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

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

Summary

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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
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Genomic context

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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

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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. Crystal structure and functional implication of the RUN domain of human NESCA. Sun Q, et al. Protein Cell, 2012 Aug. PMID 22821014, Free PMC Article
  2. Molecular cloning and characterization of a novel human gene (NESCA) which encodes a putative adapter protein containing SH3. Matsuda S, et al. Biochim Biophys Acta, 2000 Apr 25. PMID 10760598
  3. Long noncoding RNA RUSC1‑AS‑N promotes cell proliferation and metastasis through Wnt/β‑catenin signaling in human breast cancer. Zhou P, et al. Mol Med Rep, 2019 Feb. PMID 30569097, Free PMC Article
  4. Nesca, a novel adapter, translocates to the nuclear envelope and regulates neurotrophin-induced neurite outgrowth. MacDonald JI, et al. J Cell Biol, 2004 Mar 15. PMID 15024033, Free PMC Article
  5. LncRNA RUSC1-AS1 promotes osteosarcoma progression through regulating the miR-340-5p and PI3K/AKT pathway. Tong CJ, et al. Aging (Albany NY), 2021 May 28. PMID 34048366, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LncRNA RUSC1-AS1 promotes osteosarcoma progression through regulating the miR-340-5p and PI3K/AKT pathway.
    Title: LncRNA RUSC1-AS1 promotes osteosarcoma progression through regulating the miR-340-5p and PI3K/AKT pathway.
  2. The present study demonstrated that lncRNA RUSC1ASN promoted cell viability and metastasis via Wnt/betacatenin signaling in human breast cancer.
    Title: Long noncoding RNA RUSC1‑AS‑N promotes cell proliferation and metastasis through Wnt/β‑catenin signaling in human breast cancer.
  3. AP-4 deficiency causes missorting of ATG9A in diverse cell types, including patient-derived cells, as well as dysregulation of autophagy.
    Title: AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A.
  4. RUN domain of NESCA can bind H-Ras, a downstream signaling molecule of TrkA, with high affinity. Moreover, NESCA RUN can directly interact with TrkA.
    Title: Crystal structure and functional implication of the RUN domain of human NESCA.
  5. Nesca functions as an adapter involved in neuronal vesicular transport
    Title: Nesca, a novel neuronal adapter protein, links the molecular motor kinesin with the pre-synaptic membrane protein, syntaxin-1, in hippocampal neurons.
  6. Data show that NESCA and NEMO interact by their N-terminal region, that NESCA directly associates with TRAF6, which in turn catalyzes NESCA polyubiquitination, and that NESCA overexpression strongly inhibits TRAF6-mediated polyubiquitination of NEMO.
    Title: NESCA: a new NEMO/IKKgamma and TRAF6 interacting protein.
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

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

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

  • 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
  
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

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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)

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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_001105203.2 → NP_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:848 → 899
    SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
    pfam02759
    Location:530 → 640
    RUN; RUN domain

  2. NM_001105204.2 → NP_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:530 → 621
    RUN; RUN domain
    cl17036
    Location:742 → 793
    SH3; Src Homology 3 domain superfamily

  3. NM_001105205.1 → NP_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:438 → 489
    SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
    pfam02759
    Location:120 → 230
    RUN; RUN domain

  4. NM_001278227.1 → NP_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:346 → 397
    SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
    cl02689
    Location:42 → 138
    RUN; RUN domain

  5. NM_001278228.1 → NP_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:55 → 165
    RUN; RUN domain
    cl17036
    Location:373 → 424
    SH3; Src Homology 3 domain superfamily

  6. NM_001278229.1 → NP_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:61 → 152
    RUN; RUN domain
    cl17036
    Location:273 → 324
    SH3; Src Homology 3 domain superfamily

  7. NM_001278230.2 → NP_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:379 → 430
    SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
    pfam02759
    Location:61 → 171
    RUN; RUN domain

  8. NM_014328.4 → NP_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:379 → 430
    SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
    pfam02759
    Location:61 → 171
    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_047416644.1 → XP_047272600.1  AP-4 complex accessory subunit RUSC1 isoform X3

    UniProtKB/Swiss-Prot
    B3KWM9, Q5T9U9, Q5T9V0, Q5T9V1, Q5T9V2, Q9BVN2, Q9UPY4, Q9Y4T5

  2. XM_006711254.3 → XP_006711317.1  AP-4 complex accessory subunit RUSC1 isoform X1

    UniProtKB/TrEMBL
    A0A8Q3SIT1
    Related
    ENSP00000512744.1, ENST00000696599.1
    Conserved Domains (2) summary
    cd11958
    Location:985 → 1036
    SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
    pfam02759
    Location:667 → 777
    RUN; RUN domain

  3. XM_006711256.3 → XP_006711319.1  AP-4 complex accessory subunit RUSC1 isoform X2

    Conserved Domains (2) summary
    cd11958
    Location:879 → 930
    SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
    pfam02759
    Location:667 → 758
    RUN; RUN domain

  4. XM_017000891.2 → XP_016856380.1  AP-4 complex accessory subunit RUSC1 isoform X1

    UniProtKB/TrEMBL
    A0A8Q3SIT1
    Conserved Domains (2) summary
    cd11958
    Location:985 → 1036
    SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
    pfam02759
    Location:667 → 777
    RUN; RUN domain

  5. XM_006711257.2 → XP_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:379 → 430
    SH3_RUSC1; Src homology 3 domain of RUN and SH3 domain-containing protein 1
    pfam02759
    Location:61 → 171
    RUN; RUN domain

  6. XM_047416653.1 → XP_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_054335726.1 → XP_054191701.1  AP-4 complex accessory subunit RUSC1 isoform X1

    UniProtKB/TrEMBL
    A0A8Q3SIT1

  2. XM_054335727.1 → XP_054191702.1  AP-4 complex accessory subunit RUSC1 isoform X2

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

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

RNA

  1. XR_008485982.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BVN2.3 GenPept UniProtKB/Swiss-Prot:Q9BVN2

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