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Rusc1 RUN and SH3 domain containing 1 [ Mus musculus (house mouse) ]

Gene ID: 72296, updated on 11-Apr-2024

Summary

Official Symbol
Rusc1provided by MGI
Official Full Name
RUN and SH3 domain containing 1provided by MGI
Primary source
MGI:MGI:1919546
See related
Ensembl:ENSMUSG00000041263 AllianceGenome:MGI:1919546
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
NESCA; 2210403N08Rik
Summary
Enables actin binding activity. Predicted to be involved in protein polyubiquitination. Located in Golgi apparatus; early endosome; and microtubule cytoskeleton. Is expressed in gut; nervous system; and sensory organ. Orthologous to human RUSC1 (RUN and SH3 domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in cortex adult (RPKM 26.5), CNS E18 (RPKM 25.7) and 25 other tissues See more
Orthologs
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Genomic context

Location:
3 F1; 3 39.01 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (88991282..89000670, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (89083975..89093363, complement)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene ASH1 like histone lysine methyltransferase Neighboring gene STARR-seq mESC enhancer starr_08222 Neighboring gene predicted gene, 26465 Neighboring gene predicted gene, 24403 Neighboring gene STARR-seq mESC enhancer starr_08223 Neighboring gene STARR-positive B cell enhancer ABC_E1623 Neighboring gene STARR-positive B cell enhancer ABC_E2078 Neighboring gene predicted gene, 22935 Neighboring gene farnesyl diphosphate synthetase Neighboring gene predicted gene, 29704

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables actin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in protein polyubiquitination ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

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)

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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_001083807.2NP_001077276.1  AP-4 complex accessory subunit RUSC1 isoform 2

    See identical proteins and their annotated locations for NP_001077276.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC140468
    Consensus CDS
    CCDS38485.1
    UniProtKB/Swiss-Prot
    Q6PHT9, Q8BG26
    Related
    ENSMUSP00000056640.7, ENSMUST00000052539.13
    Conserved Domains (2) summary
    pfam02759
    Location:523633
    RUN; RUN domain
    cl17036
    Location:839890
    SH3; Src Homology 3 domain superfamily
  2. NM_001083808.2NP_001077277.1  AP-4 complex accessory subunit RUSC1 isoform 3

    See identical proteins and their annotated locations for NP_001077277.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation from a downstream ATG and an isoform (3) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC140468
    Consensus CDS
    CCDS50956.1
    UniProtKB/TrEMBL
    Q3TDG5
    Related
    ENSMUSP00000130477.2, ENSMUST00000166687.6
    Conserved Domains (2) summary
    cl02689
    Location:61171
    RUN; RUN domain
    cl17036
    Location:377428
    SH3; Src Homology 3 domain superfamily
  3. NM_001429159.1NP_001416088.1  AP-4 complex accessory subunit RUSC1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation from a downstream ATG and an isoform (3) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC140468
  4. NM_028188.3NP_082464.2  AP-4 complex accessory subunit RUSC1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC140468
    Consensus CDS
    CCDS38486.1
    UniProtKB/Swiss-Prot
    Q8BG26
    Related
    ENSMUSP00000088447.6, ENSMUST00000090929.12
    Conserved Domains (2) summary
    pfam02759
    Location:660770
    RUN; RUN domain
    cl17036
    Location:9761027
    SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    88991282..89000670 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006502134.5XP_006502197.1  AP-4 complex accessory subunit RUSC1 isoform X1

    UniProtKB/TrEMBL
    Q3TDG5
    Conserved Domains (2) summary
    cl02689
    Location:61171
    RUN; RUN domain
    cl17036
    Location:377428
    SH3; Src Homology 3 domain superfamily