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    EHBP1L1 EH domain binding protein 1 like 1 [ Homo sapiens (human) ]

    Gene ID: 254102, updated on 5-Mar-2024

    Summary

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    Official Symbol
    EHBP1L1provided by HGNC
    Official Full Name
    EH domain binding protein 1 like 1provided by HGNC
    Primary source
    HGNC:HGNC:30682
    See related
    Ensembl:ENSG00000173442 MIM:619583; AllianceGenome:HGNC:30682
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be involved in actin cytoskeleton organization. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in spleen (RPKM 34.0), appendix (RPKM 32.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q13.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65576053..65592650)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65570286..65586883)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65343524..65360121)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3540 Neighboring gene zinc ribbon domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3543 Neighboring gene family with sequence similarity 89 member B Neighboring gene Sharpr-MPRA regulatory region 14514 Neighboring gene uncharacterized LOC124902692 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr11:65355424-65355944 and GRCh37_chr11:65355945-65356464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65356597-65357098 Neighboring gene potassium two pore domain channel subfamily K member 7 Neighboring gene mitogen-activated protein kinase kinase kinase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65380127-65381014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3545

    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
    • 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. EHBP1L1 Drives Immune Evasion in Renal Cell Carcinoma through Binding and Stabilizing JAK1. Pan Y, et al. Adv Sci (Weinh), 2023 Apr. PMID 36775874, Free PMC Article
    2. Identification of genes downstream of Pax6 in the mouse lens using cDNA microarrays. Chauhan BK, et al. J Biol Chem, 2002 Mar 29. PMID 11790784
    3. EHBP1L1 coordinates Rab8 and Bin1 to regulate apical-directed transport in polarized epithelial cells. Nakajo A, et al. J Cell Biol, 2016 Feb 1. PMID 26833786, Free PMC Article
    4. Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. Chalasani N, et al. Gastroenterology, 2010 Nov. PMID 20708005, Free PMC Article
    5. Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. Simino J, et al. Am J Hum Genet, 2014 Jul 3. PMID 24954895, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EHBP1L1 Drives Immune Evasion in Renal Cell Carcinoma through Binding and Stabilizing JAK1.
      Title: EHBP1L1 Drives Immune Evasion in Renal Cell Carcinoma through Binding and Stabilizing JAK1.
    2. Data demonstrate that EHBP1L1 links Rab8 and the Bin1-dynamin complex, which generates membrane curvature and excises the vesicle at the endocytic recycling compartment for apical transport.
      Title: EHBP1L1 coordinates Rab8 and Bin1 to regulate apical-directed transport in polarized epithelial cells.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog
    Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35431, DKFZp762C186

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    EH domain-binding protein 1-like protein 1
    Names
    tangerin

    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.

    mRNA and Protein(s)

    1. NM_001099409.3 → NP_001092879.1  EH domain-binding protein 1-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001092879.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK024451, AL834433, AP001362, BU630372, BX443367, CA397617
      Consensus CDS
      CCDS44649.1
      UniProtKB/Swiss-Prot
      Q8N3D4, Q8TB89, Q9H7M7
      Related
      ENSP00000312671.4, ENST00000309295.9
      Conserved Domains (4) summary
      pfam00307
      Location:1038 → 1137
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:1359 → 1499
      DUF3585; Protein of unknown function (DUF3585)
      cl09930
      Location:260 → 304
      RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.

    2. NM_001351087.2 → NP_001338016.1  EH domain-binding protein 1-like protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AP001362
      Conserved Domains (3) summary
      pfam00307
      Location:280 → 379
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:605 → 741
      DUF3585; Protein of unknown function (DUF3585)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      65576053..65592650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017468.2 → XP_016872957.1  EH domain-binding protein 1-like protein 1 isoform X2

    2. XM_047426704.1 → XP_047282660.1  EH domain-binding protein 1-like protein 1 isoform X3

    3. XM_017017467.2 → XP_016872956.1  EH domain-binding protein 1-like protein 1 isoform X2

    4. XM_006718486.4 → XP_006718549.1  EH domain-binding protein 1-like protein 1 isoform X1

      Conserved Domains (4) summary
      pfam00307
      Location:1050 → 1149
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:1371 → 1511
      DUF3585; Protein of unknown function (DUF3585)
      cl09930
      Location:272 → 316
      RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.

    5. XM_005273867.4 → XP_005273924.1  EH domain-binding protein 1-like protein 1 isoform X5

      Conserved Domains (4) summary
      pfam00307
      Location:508 → 607
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:829 → 969
      DUF3585; Protein of unknown function (DUF3585)
      cl09930
      Location:272 → 316
      RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.

    6. XM_005273868.4 → XP_005273925.1  EH domain-binding protein 1-like protein 1 isoform X6

      Conserved Domains (4) summary
      pfam00307
      Location:450 → 549
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:771 → 911
      DUF3585; Protein of unknown function (DUF3585)
      cl09930
      Location:272 → 316
      RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.

    7. XM_005273869.4 → XP_005273926.1  EH domain-binding protein 1-like protein 1 isoform X8

      Conserved Domains (3) summary
      pfam00307
      Location:350 → 449
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:671 → 811
      DUF3585; Protein of unknown function (DUF3585)

    8. XM_005273870.4 → XP_005273927.1  EH domain-binding protein 1-like protein 1 isoform X9

      Conserved Domains (3) summary
      pfam00307
      Location:292 → 391
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:613 → 753
      DUF3585; Protein of unknown function (DUF3585)

    9. XM_047426705.1 → XP_047282661.1  EH domain-binding protein 1-like protein 1 isoform X7

    10. XM_006718487.5 → XP_006718550.1  EH domain-binding protein 1-like protein 1 isoform X4

      Conserved Domains (2) summary
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      cl09930
      Location:272 → 316
      RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.

    11. XM_024448416.2 → XP_024304184.1  EH domain-binding protein 1-like protein 1 isoform X11

      Conserved Domains (2) summary
      pfam10358
      Location:12 → 164
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      cl26386
      Location:199 → 405
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    12. XM_011544886.4 → XP_011543188.1  EH domain-binding protein 1-like protein 1 isoform X10

      Conserved Domains (2) summary
      pfam00307
      Location:22 → 121
      CH; Calponin homology (CH) domain
      pfam12130
      Location:343 → 483
      DUF3585; Protein of unknown function (DUF3585)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65570286..65586883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368288.1 → XP_054224263.1  EH domain-binding protein 1-like protein 1 isoform X2

    2. XM_054368289.1 → XP_054224264.1  EH domain-binding protein 1-like protein 1 isoform X3

    3. XM_054368287.1 → XP_054224262.1  EH domain-binding protein 1-like protein 1 isoform X2

    4. XM_054368286.1 → XP_054224261.1  EH domain-binding protein 1-like protein 1 isoform X1

    5. XM_054368291.1 → XP_054224266.1  EH domain-binding protein 1-like protein 1 isoform X5

    6. XM_054368292.1 → XP_054224267.1  EH domain-binding protein 1-like protein 1 isoform X6

    7. XM_054368294.1 → XP_054224269.1  EH domain-binding protein 1-like protein 1 isoform X8

    8. XM_054368295.1 → XP_054224270.1  EH domain-binding protein 1-like protein 1 isoform X9

    9. XM_054368293.1 → XP_054224268.1  EH domain-binding protein 1-like protein 1 isoform X7

    10. XM_054368290.1 → XP_054224265.1  EH domain-binding protein 1-like protein 1 isoform X4

    11. XM_054368297.1 → XP_054224272.1  EH domain-binding protein 1-like protein 1 isoform X11

    12. XM_054368296.1 → XP_054224271.1  EH domain-binding protein 1-like protein 1 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N3D4.2 GenPept UniProtKB/Swiss-Prot:Q8N3D4

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