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    RUSC1 RUN and SH3 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 23623, updated on 2-Nov-2024

    Summary

    Official Symbol
    RUSC1provided by HGNC
    Official Full Name
    RUN and SH3 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:17153
    See related
    Ensembl:ENSG00000160753 MIM:617318; AllianceGenome:HGNC:17153
    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
    Also known as
    NESCA
    Summary
    Predicted to enable actin binding activity. Involved in protein polyubiquitination. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 8.6), prostate (RPKM 6.2) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See RUSC1 in Genome Data Viewer
    Location:
    1q22
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155320894..155331118)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154459434..154469658)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155290685..155300909)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155263898-155264430 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:155275791-155276290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1813 Neighboring gene hyperpolarization activated cyclic nucleotide gated potassium channel 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1400 Neighboring gene pyruvate kinase L/R Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155291392-155292375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155295943-155296500 Neighboring gene RUSC1 antisense RNA 1 Neighboring gene farnesyl diphosphate synthase Neighboring gene ASH1 like histone lysine methyltransferase Neighboring gene microRNA 555 Neighboring gene RNA, U6 small nuclear 106, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • DKFZp761A1822

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding  
    enables protein binding PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus  
    is_active_in cytoplasmic vesicle  
    located_in cytoplasmic vesicle  
    located_in cytosol  
    located_in early endosome  
    located_in microtubule  
    located_in microtubule cytoskeleton  
    located_in nucleus  
    located_in postsynaptic density  

    General protein information

    Preferred Names
    AP-4 complex accessory subunit RUSC1
    Names
    RUN and SH3 domain-containing protein 1
    new molecule containing SH3 at the carboxy-terminus

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001105203.2NP_001098673.1  AP-4 complex accessory subunit RUSC1 isoform a

      See identical proteins and their annotated locations for NP_001098673.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC025680, DA099897
      Consensus CDS
      CCDS41410.1
      UniProtKB/Swiss-Prot
      B3KWM9, Q5T9U9, Q5T9V0, Q5T9V1, Q5T9V2, Q9BVN2, Q9UPY4, Q9Y4T5
      Related
      ENSP00000357336.5, ENST00000368352.10
      Conserved Domains (2) summary
      cd11958
      Location:848899
      SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
      pfam02759
      Location:530640
      RUN; RUN domain
    2. NM_001105204.2NP_001098674.1  AP-4 complex accessory subunit RUSC1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AK125378, BC025680, BQ004124, DA099897
      Consensus CDS
      CCDS41411.1
      UniProtKB/Swiss-Prot
      Q9BVN2
      Related
      ENSP00000357338.3, ENST00000368354.7
      Conserved Domains (2) summary
      pfam02759
      Location:530621
      RUN; RUN domain
      cl17036
      Location:742793
      SH3; Src Homology 3 domain superfamily
    3. NM_001105205.1NP_001098675.1  AP-4 complex accessory subunit RUSC1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      BC052277, BQ004124
      Consensus CDS
      CCDS41412.1
      UniProtKB/Swiss-Prot
      Q9BVN2
      Related
      ENSP00000357331.4, ENST00000368347.8
      Conserved Domains (2) summary
      cd11958
      Location:438489
      SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
      pfam02759
      Location:120230
      RUN; RUN domain
    4. NM_001278227.1NP_001265156.1  AP-4 complex accessory subunit RUSC1 isoform e

      See identical proteins and their annotated locations for NP_001265156.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (e) is shorter and has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AK298730, BC052277, BQ004124
      UniProtKB/TrEMBL
      B4DQB8
      Conserved Domains (2) summary
      cd11958
      Location:346397
      SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
      cl02689
      Location:42138
      RUN; RUN domain
    5. NM_001278228.1NP_001265157.1  AP-4 complex accessory subunit RUSC1 isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 1. It initiates translation at an alternate start codon. The encoded isoform (f) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AK074982, AK307736, BC052277, BQ004124
      UniProtKB/Swiss-Prot
      Q9BVN2
      Conserved Domains (2) summary
      pfam02759
      Location:55165
      RUN; RUN domain
      cl17036
      Location:373424
      SH3; Src Homology 3 domain superfamily
    6. NM_001278229.1NP_001265158.1  AP-4 complex accessory subunit RUSC1 isoform g

      See identical proteins and their annotated locations for NP_001265158.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (g) is shorter and has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AK074982, AK298730, BC052277, BQ004124, BX402179
      UniProtKB/TrEMBL
      A0A087WX95
      Related
      ENSP00000480831.1, ENST00000479924.5
      Conserved Domains (2) summary
      cl02689
      Location:61152
      RUN; RUN domain
      cl17036
      Location:273324
      SH3; Src Homology 3 domain superfamily
    7. NM_001278230.2NP_001265159.1  AP-4 complex accessory subunit RUSC1 isoform d

      See identical proteins and their annotated locations for NP_001265159.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a. Variants 1 and 8 encode the same isoform (d).
      Source sequence(s)
      AL139410
      Consensus CDS
      CCDS1112.1
      UniProtKB/Swiss-Prot
      Q9BVN2
      Related
      ENSP00000292254.4, ENST00000292254.8
      Conserved Domains (2) summary
      cd11958
      Location:379430
      SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
      pfam02759
      Location:61171
      RUN; RUN domain
    8. NM_014328.4NP_055143.2  AP-4 complex accessory subunit RUSC1 isoform d

      See identical proteins and their annotated locations for NP_055143.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a. Variants 1 and 8 encode the same isoform (d).
      Source sequence(s)
      AK074982, BC052277, BQ004124, DA131200
      Consensus CDS
      CCDS1112.1
      UniProtKB/Swiss-Prot
      Q9BVN2
      Related
      ENSP00000357333.4, ENST00000368349.8
      Conserved Domains (2) summary
      cd11958
      Location:379430
      SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
      pfam02759
      Location:61171
      RUN; RUN domain

    RNA

    1. NR_103478.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) contains multiple differences, compared to variant 1, including the lack of multiple 5' exons. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AL139410
      Related
      ENST00000471876.5

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155320894..155331118
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416644.1XP_047272600.1  AP-4 complex accessory subunit RUSC1 isoform X3

      UniProtKB/Swiss-Prot
      B3KWM9, Q5T9U9, Q5T9V0, Q5T9V1, Q5T9V2, Q9BVN2, Q9UPY4, Q9Y4T5
    2. XM_006711254.3XP_006711317.1  AP-4 complex accessory subunit RUSC1 isoform X1

      UniProtKB/TrEMBL
      A0A8Q3SIT1
      Related
      ENSP00000512744.1, ENST00000696599.1
      Conserved Domains (2) summary
      cd11958
      Location:9851036
      SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
      pfam02759
      Location:667777
      RUN; RUN domain
    3. XM_006711256.3XP_006711319.1  AP-4 complex accessory subunit RUSC1 isoform X2

      Conserved Domains (2) summary
      cd11958
      Location:879930
      SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
      pfam02759
      Location:667758
      RUN; RUN domain
    4. XM_017000891.2XP_016856380.1  AP-4 complex accessory subunit RUSC1 isoform X1

      UniProtKB/TrEMBL
      A0A8Q3SIT1
      Conserved Domains (2) summary
      cd11958
      Location:9851036
      SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
      pfam02759
      Location:667777
      RUN; RUN domain
    5. XM_006711257.2XP_006711320.1  AP-4 complex accessory subunit RUSC1 isoform X4

      See identical proteins and their annotated locations for XP_006711320.1

      UniProtKB/Swiss-Prot
      Q9BVN2
      Conserved Domains (2) summary
      cd11958
      Location:379430
      SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
      pfam02759
      Location:61171
      RUN; RUN domain
    6. XM_047416653.1XP_047272609.1  AP-4 complex accessory subunit RUSC1 isoform X5

    RNA

    1. XR_007058572.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      154459434..154469658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335726.1XP_054191701.1  AP-4 complex accessory subunit RUSC1 isoform X1

      UniProtKB/TrEMBL
      A0A8Q3SIT1
    2. XM_054335727.1XP_054191702.1  AP-4 complex accessory subunit RUSC1 isoform X2

    3. XM_054335728.1XP_054191703.1  AP-4 complex accessory subunit RUSC1 isoform X4

    4. XM_054335729.1XP_054191704.1  AP-4 complex accessory subunit RUSC1 isoform X5

    RNA

    1. XR_008485982.1 RNA Sequence

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