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

Gene ID: 23623, updated on 6-May-2021

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
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
Expression
Ubiquitous expression in brain (RPKM 8.6), prostate (RPKM 6.2) and 25 other tissues See more
Orthologs
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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
109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (155320894..155331118)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155290685..155300909)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene hyperpolarization activated cyclic nucleotide gated potassium channel 3 Neighboring gene pyruvate kinase L/R 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
  • 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp761A1822

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in early endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
RUN and SH3 domain-containing protein 1
Names
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  RUN and SH3 domain-containing protein 1 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
    Q9BVN2
    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  RUN and SH3 domain-containing protein 1 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  RUN and SH3 domain-containing protein 1 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  RUN and SH3 domain-containing protein 1 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/Swiss-Prot
    Q9BVN2
    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  RUN and SH3 domain-containing protein 1 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  RUN and SH3 domain-containing protein 1 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/Swiss-Prot
    Q9BVN2
    UniProtKB/TrEMBL
    B4DQB8
    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  RUN and SH3 domain-containing protein 1 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  RUN and SH3 domain-containing protein 1 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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006711254.2XP_006711317.1  RUN and SH3 domain-containing protein 1 isoform X1

    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
  2. XM_006711256.2XP_006711319.1  RUN and SH3 domain-containing protein 1 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
  3. XM_017000891.1XP_016856380.1  RUN and SH3 domain-containing protein 1 isoform X1

    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
  4. XM_006711257.1XP_006711320.1  RUN and SH3 domain-containing protein 1 isoform X3

    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
  5. XM_017000892.1XP_016856381.1  RUN and SH3 domain-containing protein 1 isoform X4

    UniProtKB/Swiss-Prot
    Q9BVN2
    Conserved Domains (2) summary
    cl02689
    Location:61152
    RUN; RUN domain
    cl17036
    Location:273324
    SH3; Src Homology 3 domain superfamily

RNA

  1. XR_921763.2 RNA Sequence

  2. XR_001737085.2 RNA Sequence

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