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    ITSN1 intersectin 1 [ Homo sapiens (human) ]

    Gene ID: 6453, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ITSN1provided by HGNC
    Official Full Name
    intersectin 1provided by HGNC
    Primary source
    HGNC:HGNC:6183
    See related
    Ensembl:ENSG00000205726 MIM:602442; AllianceGenome:HGNC:6183
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ITSN; SH3D1A; SH3P17
    Summary
    The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 8.8), brain (RPKM 4.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ITSN1 in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33642501..33899861)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (32024315..32281564)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35014807..35272165)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:34960679-34961178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18382 Neighboring gene DNA replication fork stabilization factor DONSON Neighboring gene crystallin zeta like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35029077-35029576 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:35063898-35064424 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:35064425-35064951 Neighboring gene H3K27me3-DHS negatively-acting regulatory element H4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35069053-35069554 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:35114498-35114600 Neighboring gene NANOG hESC enhancer GRCh37_chr21:35173966-35174467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35229825-35230518 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:35257366-35258565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35267187-35267773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35267774-35268359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35274085-35274680 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:35285966-35287165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18384 Neighboring gene RNA, 7SL, cytoplasmic 740, pseudogene Neighboring gene ATP synthase peripheral stalk subunit OSCP

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The SH3D1A gene maps to human chromosome 21q22.1-->q22.2. Chen H, et al. Cytogenet Cell Genet, 1997. PMID 9465890
    2. Silencing Intersectin 1 Slows Orthotopic Neuroblastoma Growth in Mice. Harris J, et al. J Pediatr Hematol Oncol, 2017 Nov. PMID 28787396, Free PMC Article
    3. WIP/ITSN1 complex is involved in cellular vesicle trafficking and formation of filopodia-like protrusions. Gryaznova T, et al. Gene, 2018 Oct 20. PMID 29958948
    4. Intersectin1-S, a multidomain adapter protein, is essential for malignant glioma proliferation. Gu F, et al. Glia, 2015 Sep. PMID 25832561
    5. Whole-genome sequencing of quartet families with autism spectrum disorder. Yuen RK, et al. Nat Med, 2015 Feb. PMID 25621899

    See all (143) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The alternative splicing of intersectin 1 regulated by PTBP1 promotes human glioma progression.
      Title: The alternative splicing of intersectin 1 regulated by PTBP1 promotes human glioma progression.
    2. ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
      Title: ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
    3. Endocytic protein intersectin1-S shuttles into nucleus to suppress the DNA replication in breast cancer.
      Title: Endocytic protein intersectin1-S shuttles into nucleus to suppress the DNA replication in breast cancer.
    4. ITSN1 regulates SAM68 solubility through SH3 domain interactions with SAM68 proline-rich motifs.
      Title: ITSN1 regulates SAM68 solubility through SH3 domain interactions with SAM68 proline-rich motifs.
    5. two isoforms of intersectin1 ITSN1-S and ITSN1-L produced by alternative splicing exerted opposite functions in glioma development.
      Title: Alternative splicing-derived intersectin1-L and intersectin1-S exert opposite function in glioma progression.
    6. Different modes of ubiquitination regulated by AIP4 have opposite effects on ITSN1 isoform stability.
      Title: Ubiquitin-ligase AIP4 controls differential ubiquitination and stability of isoforms of the scaffold protein ITSN1.
    7. the long isoform of intersectin-1 (ITSN-1), a guanine nucleotide exchange factor for Cdc42, is identified as a novel Golgi component and an interaction partner of GCC88 responsible for mediating the actin-dependent dispersal of the Golgi ribbon.
      Title: Intersectin-1 interacts with the golgin GCC88 to couple the actin network and Golgi architecture.
    8. WIP enhances the interaction of N-WASP with ITSN1 and promotes ITSN1/beta-actin association.
      Title: WIP/ITSN1 complex is involved in cellular vesicle trafficking and formation of filopodia-like protrusions.
    9. Here, we discover that intersectin-s binds DENND2B, a guanine nucleotide exchange factor for the exocytic GTPase Rab13, and this interaction promotes recycling of ligand-free EGFR to the cell surface. Our study thus reveals a novel mechanism controlling the fate of internalized EGFR with important implications for cancer.
      Title: Intersectin-s interaction with DENND2B facilitates recycling of epidermal growth factor receptor.
    10. study reports that vaccinia virus A36 contains three NPF motifs that interact with the Eps15 homology (EH) domains in intersectin-1 and Eps15 to promote the release of virus from infected cells and their subsequent spread
      Title: NPF motifs in the vaccinia virus protein A36 recruit intersectin-1 to promote Cdc42:N-WASP-mediated viral release from infected cells.
    Submit: New GeneRIF Correction See all GeneRIFs (36)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-10-08)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2024-10-08)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Genome-wide shRNA screening identifies ITSN1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC134948, MGC134949

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables proline-rich region binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in clathrin-dependent synaptic vesicle endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in intracellular vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lamellipodium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in presynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    intersectin-1
    Names
    SH3 domain-containing protein 1A
    Src homology 3 domain-containing protein
    human intersectin-SH3 domain-containing protein SH3P17
    intersectin 1 (SH3 domain protein)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029504.2 RefSeqGene

      Range
      5002..262362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001132.2 → NP_001001132.1  intersectin-1 isoform ITSN-s

      See identical proteins and their annotated locations for NP_001001132.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (ITSN-s) is shorter at the C-terminus compared to isoform ITSN-l.
      Source sequence(s)
      AF114488, AI857585, BC058925
      Consensus CDS
      CCDS33546.1
      UniProtKB/TrEMBL
      Q0PW96
      Related
      ENSP00000370691.4, ENST00000381291.8
      Conserved Domains (10) summary
      smart00027
      Location:214 → 309
      EH; Eps15 homology domain
      cd11991
      Location:1006 → 1057
      SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
      cd11995
      Location:1158 → 1211
      SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
      COG1340
      Location:372 → 686
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00052
      Location:225 → 291
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam13476
      Location:509 → 636
      AAA_23; AAA domain
      pfam16617
      Location:803 → 917
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      cd16269
      Location:383 → 394
      GBP_C; coiled coil [structural motif]
      cl17036
      Location:1074 → 1138
      SH3; Src Homology 3 domain superfamily
      cl20817
      Location:331 → 414
      GBP_C; Guanylate-binding protein, C-terminal domain

    2. NM_001331008.2 → NP_001317937.1  intersectin-1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK027846, AP000308, AP000311, AP000312, CX163355, KF511399
      Consensus CDS
      CCDS82661.1
      UniProtKB/TrEMBL
      F8W7U0, Q0PW96
      Related
      ENSP00000382292.2, ENST00000399355.6

    3. NM_001331009.2 → NP_001317938.1  intersectin-1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AK027846, AK300274, AP000312, CX163355
      Consensus CDS
      CCDS82663.1
      UniProtKB/TrEMBL
      Q0PW96
      Related
      ENSP00000382289.1, ENST00000399352.5
      Conserved Domains (11) summary
      smart00027
      Location:214 → 309
      EH; Eps15 homology domain
      cd11987
      Location:744 → 798
      SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
      cd11991
      Location:1001 → 1052
      SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
      cd11995
      Location:1153 → 1206
      SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
      COG1340
      Location:372 → 686
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00052
      Location:225 → 291
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam13476
      Location:509 → 636
      AAA_23; AAA domain
      pfam16617
      Location:798 → 912
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      cd16269
      Location:383 → 394
      GBP_C; coiled coil [structural motif]
      cl17036
      Location:1069 → 1133
      SH3; Src Homology 3 domain superfamily
      cl20817
      Location:331 → 414
      GBP_C; Guanylate-binding protein, C-terminal domain

    4. NM_001331010.2 → NP_001317939.1  intersectin-1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AK027846, AP000308, AP000311, AP000312, AP000313, KF511399
      Consensus CDS
      CCDS82664.1
      UniProtKB/TrEMBL
      Q14BD4
      Related
      ENSP00000382301.3, ENST00000399367.7
      Conserved Domains (16) summary
      cd08375
      Location:1577 → 1711
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:214 → 309
      EH; Eps15 homology domain
      cd11987
      Location:744 → 798
      SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
      cd11989
      Location:912 → 963
      SH3_Intersectin1_2; Second Src homology 3 domain (or SH3B) of Intersectin-1
      cd11991
      Location:1001 → 1052
      SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
      cd11993
      Location:1069 → 1133
      SH3_Intersectin1_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-1
      cd11995
      Location:1153 → 1206
      SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
      COG1340
      Location:372 → 686
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00052
      Location:225 → 291
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cd13264
      Location:1443 → 1574
      PH_ITSN; Intersectin Pleckstrin homology (PH) domain
      pfam00169
      Location:1460 → 1566
      PH; PH domain
      pfam00621
      Location:1237 → 1417
      RhoGEF; RhoGEF domain
      pfam13476
      Location:509 → 636
      AAA_23; AAA domain
      pfam16617
      Location:798 → 912
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      cd16269
      Location:383 → 394
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:331 → 414
      GBP_C; Guanylate-binding protein, C-terminal domain

    5. NM_001331011.2 → NP_001317940.1  intersectin-1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP000312, BC117560, CX163355
      Consensus CDS
      CCDS82665.1
      UniProtKB/TrEMBL
      Q0PW96
      Related
      ENSP00000382286.1, ENST00000399349.5
      Conserved Domains (10) summary
      smart00027
      Location:214 → 309
      EH; Eps15 homology domain
      cd11987
      Location:744 → 798
      SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
      cd11995
      Location:1082 → 1135
      SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
      COG1340
      Location:372 → 686
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00052
      Location:225 → 291
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam13476
      Location:509 → 636
      AAA_23; AAA domain
      pfam16617
      Location:798 → 912
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      cd16269
      Location:383 → 394
      GBP_C; coiled coil [structural motif]
      cl17036
      Location:1001 → 1062
      SH3; Src Homology 3 domain superfamily
      cl20817
      Location:331 → 414
      GBP_C; Guanylate-binding protein, C-terminal domain

    6. NM_001331012.2 → NP_001317941.1  intersectin-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AK027846, AP000308, AP000311, AP000312, CX163355, KF511399
      Consensus CDS
      CCDS82666.1
      UniProtKB/TrEMBL
      Q0PW96
      Related
      ENSP00000382290.1, ENST00000399353.5
      Conserved Domains (11) summary
      smart00027
      Location:177 → 272
      EH; Eps15 homology domain
      cd11987
      Location:707 → 761
      SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
      cd11991
      Location:964 → 1015
      SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
      cd11995
      Location:1116 → 1169
      SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
      COG1340
      Location:335 → 649
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00052
      Location:188 → 254
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam13476
      Location:472 → 599
      AAA_23; AAA domain
      pfam16617
      Location:761 → 875
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      cd16269
      Location:346 → 357
      GBP_C; coiled coil [structural motif]
      cl17036
      Location:1032 → 1096
      SH3; Src Homology 3 domain superfamily
      cl20817
      Location:294 → 377
      GBP_C; Guanylate-binding protein, C-terminal domain

    7. NM_003024.3 → NP_003015.2  intersectin-1 isoform ITSN-l

      See identical proteins and their annotated locations for NP_003015.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (ITSN-l).
      Source sequence(s)
      AF064244, AF114487, AP000313, BC058925
      Consensus CDS
      CCDS33545.1
      UniProtKB/Swiss-Prot
      A7Y322, A8CTX8, A8CTY3, A8CTY7, A8D7D0, A8DCP3, B4DTM2, E7ERJ1, E9PE44, E9PG01, E9PHV2, O95216, Q0PW94, Q0PW95, Q0PW97, Q14BD3, Q15811, Q1ED40, Q20BK3, Q9UET5, Q9UK60, Q9UNK1, Q9UNK2, Q9UQ92
      UniProtKB/TrEMBL
      Q14BD4
      Related
      ENSP00000370719.3, ENST00000381318.8
      Conserved Domains (16) summary
      cd08375
      Location:1582 → 1716
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:214 → 309
      EH; Eps15 homology domain
      cd11987
      Location:744 → 803
      SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
      cd11989
      Location:917 → 968
      SH3_Intersectin1_2; Second Src homology 3 domain (or SH3B) of Intersectin-1
      cd11991
      Location:1006 → 1057
      SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
      cd11993
      Location:1074 → 1138
      SH3_Intersectin1_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-1
      cd11995
      Location:1158 → 1211
      SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
      COG1340
      Location:372 → 686
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00052
      Location:225 → 291
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cd13264
      Location:1448 → 1579
      PH_ITSN; Intersectin Pleckstrin homology (PH) domain
      pfam00169
      Location:1465 → 1571
      PH; PH domain
      pfam00621
      Location:1242 → 1422
      RhoGEF; RhoGEF domain
      pfam13476
      Location:509 → 636
      AAA_23; AAA domain
      pfam16617
      Location:803 → 917
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      cd16269
      Location:383 → 394
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:331 → 414
      GBP_C; Guanylate-binding protein, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      33642501..33899861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028428.2 → XP_016883917.1  intersectin-1 isoform X1

      UniProtKB/Swiss-Prot
      A7Y322, A8CTX8, A8CTY3, A8CTY7, A8D7D0, A8DCP3, B4DTM2, E7ERJ1, E9PE44, E9PG01, E9PHV2, O95216, Q0PW94, Q0PW95, Q0PW97, Q14BD3, Q15811, Q1ED40, Q20BK3, Q9UET5, Q9UK60, Q9UNK1, Q9UNK2, Q9UQ92
      UniProtKB/TrEMBL
      Q14BD4
      Conserved Domains (16) summary
      cd08375
      Location:1582 → 1716
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:214 → 309
      EH; Eps15 homology domain
      cd11987
      Location:744 → 803
      SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
      cd11989
      Location:917 → 968
      SH3_Intersectin1_2; Second Src homology 3 domain (or SH3B) of Intersectin-1
      cd11991
      Location:1006 → 1057
      SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
      cd11993
      Location:1074 → 1138
      SH3_Intersectin1_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-1
      cd11995
      Location:1158 → 1211
      SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
      COG1340
      Location:372 → 686
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00052
      Location:225 → 291
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cd13264
      Location:1448 → 1579
      PH_ITSN; Intersectin Pleckstrin homology (PH) domain
      pfam00169
      Location:1465 → 1571
      PH; PH domain
      pfam00621
      Location:1242 → 1422
      RhoGEF; RhoGEF domain
      pfam13476
      Location:509 → 636
      AAA_23; AAA domain
      pfam16617
      Location:803 → 917
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      cd16269
      Location:383 → 394
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:331 → 414
      GBP_C; Guanylate-binding protein, C-terminal domain

    2. XM_017028431.3 → XP_016883920.1  intersectin-1 isoform X4

      UniProtKB/TrEMBL
      Q14BD4

    3. XM_017028433.3 → XP_016883922.1  intersectin-1 isoform X6

      UniProtKB/TrEMBL
      Q14BD4

    4. XM_017028432.3 → XP_016883921.1  intersectin-1 isoform X5

      UniProtKB/TrEMBL
      Q14BD4
      Conserved Domains (16) summary
      cd08375
      Location:1521 → 1655
      C2_Intersectin; C2 domain present in Intersectin
      smart00027
      Location:214 → 309
      EH; Eps15 homology domain
      cd11987
      Location:744 → 798
      SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
      cd11989
      Location:912 → 963
      SH3_Intersectin1_2; Second Src homology 3 domain (or SH3B) of Intersectin-1
      cd11991
      Location:1001 → 1052
      SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
      cd11993
      Location:1069 → 1133
      SH3_Intersectin1_4; Fourth Src homology 3 domain (or SH3D) of Intersectin-1
      cd11995
      Location:1153 → 1206
      SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
      COG1340
      Location:372 → 686
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00052
      Location:225 → 291
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cd13264
      Location:1387 → 1518
      PH_ITSN; Intersectin Pleckstrin homology (PH) domain
      pfam00169
      Location:1404 → 1510
      PH; PH domain
      pfam00621
      Location:1237 → 1386
      RhoGEF; RhoGEF domain
      pfam13476
      Location:509 → 636
      AAA_23; AAA domain
      pfam16617
      Location:798 → 912
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      cd16269
      Location:383 → 394
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:331 → 414
      GBP_C; Guanylate-binding protein, C-terminal domain

    5. XM_017028434.3 → XP_016883923.1  intersectin-1 isoform X7

      UniProtKB/TrEMBL
      Q14BD4

    6. XM_017028429.3 → XP_016883918.1  intersectin-1 isoform X2

      UniProtKB/TrEMBL
      A0A2X0TVY8

    7. XM_017028435.3 → XP_016883924.1  intersectin-1 isoform X8

      UniProtKB/TrEMBL
      A0A2X0TVY8

    8. XM_017028430.3 → XP_016883919.1  intersectin-1 isoform X3

      UniProtKB/TrEMBL
      Q14BD4

    9. XM_017028436.3 → XP_016883925.1  intersectin-1 isoform X9

      UniProtKB/TrEMBL
      Q14BD4

    10. XM_047440945.1 → XP_047296901.1  intersectin-1 isoform X10

    11. XM_017028438.3 → XP_016883927.1  intersectin-1 isoform X11

      UniProtKB/TrEMBL
      A7XZY7, Q0PW96
      Conserved Domains (10) summary
      smart00027
      Location:177 → 272
      EH; Eps15 homology domain
      cd11991
      Location:969 → 1020
      SH3_Intersectin1_3; Third Src homology 3 domain (or SH3C) of Intersectin-1
      cd11995
      Location:1121 → 1174
      SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
      COG1340
      Location:335 → 649
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00052
      Location:188 → 254
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam13476
      Location:472 → 599
      AAA_23; AAA domain
      pfam16617
      Location:766 → 880
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      cd16269
      Location:346 → 357
      GBP_C; coiled coil [structural motif]
      cl17036
      Location:1037 → 1101
      SH3; Src Homology 3 domain superfamily
      cl20817
      Location:294 → 377
      GBP_C; Guanylate-binding protein, C-terminal domain

    12. XM_017028440.3 → XP_016883929.1  intersectin-1 isoform X14

      UniProtKB/TrEMBL
      Q0PW96
      Conserved Domains (9) summary
      smart00027
      Location:177 → 272
      EH; Eps15 homology domain
      cd11995
      Location:1050 → 1103
      SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
      COG1340
      Location:335 → 649
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00052
      Location:188 → 254
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam13476
      Location:472 → 599
      AAA_23; AAA domain
      pfam16617
      Location:766 → 880
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      cd16269
      Location:346 → 357
      GBP_C; coiled coil [structural motif]
      cl17036
      Location:969 → 1030
      SH3; Src Homology 3 domain superfamily
      cl20817
      Location:294 → 377
      GBP_C; Guanylate-binding protein, C-terminal domain

    13. XM_011529692.3 → XP_011527994.1  intersectin-1 isoform X15

      See identical proteins and their annotated locations for XP_011527994.1

      UniProtKB/TrEMBL
      Q0PW96
      Conserved Domains (10) summary
      smart00027
      Location:177 → 272
      EH; Eps15 homology domain
      cd11987
      Location:707 → 761
      SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
      cd11995
      Location:1045 → 1098
      SH3_Intersectin1_5; Fifth Src homology 3 domain (or SH3E) of Intersectin-1
      COG1340
      Location:335 → 649
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00052
      Location:188 → 254
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam13476
      Location:472 → 599
      AAA_23; AAA domain
      pfam16617
      Location:761 → 875
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      cd16269
      Location:346 → 357
      GBP_C; coiled coil [structural motif]
      cl17036
      Location:964 → 1025
      SH3; Src Homology 3 domain superfamily
      cl20817
      Location:294 → 377
      GBP_C; Guanylate-binding protein, C-terminal domain

    14. XM_047440949.1 → XP_047296905.1  intersectin-1 isoform X18

    15. XM_047440950.1 → XP_047296906.1  intersectin-1 isoform X19

      Related
      ENSP00000370685.5, ENST00000381285.8

    16. XM_017028441.3 → XP_016883930.1  intersectin-1 isoform X16

      UniProtKB/TrEMBL
      A8CTZ0, E9PD98

    17. XM_011529693.4 → XP_011527995.1  intersectin-1 isoform X17

      UniProtKB/TrEMBL
      A8CTZ0, E9PD98
      Related
      ENSP00000382275.4, ENST00000399338.8
      Conserved Domains (8) summary
      smart00027
      Location:214 → 309
      EH; Eps15 homology domain
      cd11987
      Location:744 → 798
      SH3_Intersectin1_1; First Src homology 3 domain (or SH3A) of Intersectin-1
      COG1340
      Location:372 → 686
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00052
      Location:225 → 291
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam13476
      Location:509 → 636
      AAA_23; AAA domain
      pfam16617
      Location:798 → 904
      INTAP; Intersectin and clathrin adaptor AP2 binding region
      cd16269
      Location:383 → 394
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:331 → 414
      GBP_C; Guanylate-binding protein, C-terminal domain

    18. XM_047440951.1 → XP_047296907.1  intersectin-1 isoform X20

    19. XM_047440943.1 → XP_047296899.1  intersectin-1 isoform X3

    20. XM_047440944.1 → XP_047296900.1  intersectin-1 isoform X10

    21. XM_047440947.1 → XP_047296903.1  intersectin-1 isoform X13

    22. XM_047440946.1 → XP_047296902.1  intersectin-1 isoform X12

    23. XM_047440948.1 → XP_047296904.1  intersectin-1 isoform X17

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      32024315..32281564
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324760.1 → XP_054180735.1  intersectin-1 isoform X1

      UniProtKB/Swiss-Prot
      A7Y322, A8CTX8, A8CTY3, A8CTY7, A8D7D0, A8DCP3, B4DTM2, E7ERJ1, E9PE44, E9PG01, E9PHV2, O95216, Q0PW94, Q0PW95, Q0PW97, Q14BD3, Q15811, Q1ED40, Q20BK3, Q9UET5, Q9UK60, Q9UNK1, Q9UNK2, Q9UQ92

    2. XM_054324764.1 → XP_054180739.1  intersectin-1 isoform X4

    3. XM_054324766.1 → XP_054180741.1  intersectin-1 isoform X6

    4. XM_054324765.1 → XP_054180740.1  intersectin-1 isoform X5

    5. XM_054324767.1 → XP_054180742.1  intersectin-1 isoform X7

    6. XM_054324761.1 → XP_054180736.1  intersectin-1 isoform X2

    7. XM_054324768.1 → XP_054180743.1  intersectin-1 isoform X8

    8. XM_054324762.1 → XP_054180737.1  intersectin-1 isoform X3

    9. XM_054324769.1 → XP_054180744.1  intersectin-1 isoform X9

    10. XM_054324771.1 → XP_054180746.1  intersectin-1 isoform X10

    11. XM_054324773.1 → XP_054180748.1  intersectin-1 isoform X11

      UniProtKB/TrEMBL
      A7XZY7

    12. XM_054324776.1 → XP_054180751.1  intersectin-1 isoform X14

    13. XM_054324777.1 → XP_054180752.1  intersectin-1 isoform X15

    14. XM_054324781.1 → XP_054180756.1  intersectin-1 isoform X18

    15. XM_054324782.1 → XP_054180757.1  intersectin-1 isoform X19

    16. XM_054324778.1 → XP_054180753.1  intersectin-1 isoform X16

    17. XM_054324779.1 → XP_054180754.1  intersectin-1 isoform X17

    18. XM_054324783.1 → XP_054180758.1  intersectin-1 isoform X20

    19. XM_054324763.1 → XP_054180738.1  intersectin-1 isoform X3

    20. XM_054324770.1 → XP_054180745.1  intersectin-1 isoform X10

    21. XM_054324775.1 → XP_054180750.1  intersectin-1 isoform X13

    22. XM_054324774.1 → XP_054180749.1  intersectin-1 isoform X12

    23. XM_054324780.1 → XP_054180755.1  intersectin-1 isoform X17

    24. XM_054324772.1 → XP_054180747.1  intersectin-1 isoform X21

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15811.3 GenPept UniProtKB/Swiss-Prot:Q15811

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