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WASHC4 WASH complex subunit 4 [ Homo sapiens (human) ]

Gene ID: 23325, updated on 20-Dec-2019

Summary

Official Symbol
WASHC4provided by HGNC
Official Full Name
WASH complex subunit 4provided by HGNC
Primary source
HGNC:HGNC:29174
See related
Ensembl:ENSG00000136051 MIM:615748
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SWIP; MRT43; KIAA1033
Summary
This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Expression
Ubiquitous expression in lymph node (RPKM 16.8), appendix (RPKM 15.8) and 25 other tissues See more
Orthologs

Genomic context

See WASHC4 in Genome Data Viewer
Location:
12q23.3
Exon count:
36
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (105107726..105169134)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (105501492..105562912)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene aldehyde dehydrogenase 1 family member L2 Neighboring gene uncharacterized LOC414300 Neighboring gene uncharacterized LOC105369953 Neighboring gene adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 Neighboring gene renal clear cell carcinoma-associated transcript 198

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosomal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
endosomal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with BLOC-1 complex IDA
Inferred from Direct Assay
more info
PubMed 
WASH complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
WASH complex IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IEA
Inferred from Electronic Annotation
more info
 
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
WASH complex subunit 4
Names
WASH complex subunit 7
WASH complex subunit SWIP
strumpellin and WASH-interacting protein

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_034157.1 RefSeqGene

    Range
    5018..66417
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001293640.2NP_001280569.1  WASH complex subunit 4 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK001657, AL137753, BC040936, BC143373
    Consensus CDS
    CCDS73514.1
    UniProtKB/Swiss-Prot
    Q2M389
    UniProtKB/TrEMBL
    A0A087X256, B7ZKT9
    Related
    ENSP00000484713.1, ENST00000620430.5
    Conserved Domains (3) summary
    pfam14744
    Location:613946
    WASH-7_mid; WASH complex subunit 7
    pfam14745
    Location:32601
    WASH-7_N; WASH complex subunit 7, N-terminal
    pfam14746
    Location:9671136
    WASH-7_C; WASH complex subunit 7, C-terminal
  2. NM_015275.3NP_056090.1  WASH complex subunit 4 isoform 2

    See identical proteins and their annotated locations for NP_056090.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB028956, AK001657, AL137753, BC040936
    Consensus CDS
    CCDS41826.1
    UniProtKB/Swiss-Prot
    Q2M389
    Related
    ENSP00000328062.5, ENST00000332180.9
    Conserved Domains (3) summary
    pfam14744
    Location:612945
    WASH-7_mid; WASH complex subunit 7
    pfam14745
    Location:32600
    WASH-7_N; WASH complex subunit 7, N-terminal
    pfam14746
    Location:9661135
    WASH-7_C; WASH complex subunit 7, C-terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    105107726..105169134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538073.3XP_011536375.1  WASH complex subunit 4 isoform X1

    Conserved Domains (3) summary
    pfam14744
    Location:612900
    WASH-7_mid; WASH complex subunit 7
    pfam14745
    Location:32600
    WASH-7_N; WASH complex subunit 7, N-terminal
    pfam14746
    Location:9211090
    WASH-7_C; WASH complex subunit 7, C-terminal
  2. XM_017019082.2XP_016874571.1  WASH complex subunit 4 isoform X3

    Conserved Domains (2) summary
    pfam14744
    Location:612920
    WASH-7_mid; WASH complex subunit 7
    pfam14745
    Location:32600
    WASH-7_N; WASH complex subunit 7, N-terminal
  3. XM_011538077.3XP_011536379.1  WASH complex subunit 4 isoform X4

    Conserved Domains (2) summary
    pfam14744
    Location:612843
    WASH-7_mid; WASH complex subunit 7
    pfam14745
    Location:32600
    WASH-7_N; WASH complex subunit 7, N-terminal
  4. XM_011538074.2XP_011536376.1  WASH complex subunit 4 isoform X2

    See identical proteins and their annotated locations for XP_011536376.1

    Conserved Domains (3) summary
    pfam14744
    Location:424757
    WASH-7_mid; WASH complex subunit 7
    pfam14745
    Location:1412
    WASH-7_N; WASH complex subunit 7, N-terminal
    pfam14746
    Location:778947
    WASH-7_C; WASH complex subunit 7, C-terminal

RNA

  1. XR_001748640.2 RNA Sequence

    Related
    ENST00000550053.5
  2. XR_001748641.2 RNA Sequence

  3. XR_001748639.2 RNA Sequence

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