U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

WASHC3 WASH complex subunit 3 [ Homo sapiens (human) ]

Gene ID: 51019, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
WASHC3provided by HGNC
Official Full Name
WASH complex subunit 3provided by HGNC
Primary source
HGNC:HGNC:24256
See related
Ensembl:ENSG00000120860 MIM:619925; AllianceGenome:HGNC:24256
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
CCDC53; CGI-116
Summary
Predicted to be involved in actin filament polymerization and exocytosis. Part of WASH complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 48.2), adrenal (RPKM 16.9) and 24 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
12q23.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (102012840..102062124, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (101973971..102023257, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (102406618..102455902, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6874 Neighboring gene Sharpr-MPRA regulatory region 5561 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6876 Neighboring gene ribosomal protein L9 pseudogene 24 Neighboring gene uncharacterized LOC107984548 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_22809 Neighboring gene neudesin neurotrophic factor pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6878 Neighboring gene nucleoporin 37 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6879 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:102514807-102515364 Neighboring gene PARP1 binding protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:102546739-102547240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6880 Neighboring gene pro-melanin concentrating hormone

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes. Jia D, et al. Proc Natl Acad Sci U S A, 2010 Jun 8. PMID 20498093, Free PMC Article
  2. A FAM21-containing WASH complex regulates retromer-dependent sorting. Gomez TS, et al. Dev Cell, 2009 Nov. PMID 19922874, Free PMC Article
  3. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. Derivery E, et al. Dev Cell, 2009 Nov. PMID 19922875
  4. A whole genome screen for HIV restriction factors. Liu L, et al. Retrovirology, 2011 Nov 14. PMID 22082156, Free PMC Article
  5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. Hu RM, et al. Proc Natl Acad Sci U S A, 2000 Aug 15. PMID 10931946, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction Pubs
Knockdown of coiled-coil domain containing 53 (CCDC53) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in biological_process ND
No biological Data available
more info
  
involved_in endosomal transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of Arp2/3 complex-mediated actin nucleation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of WASH complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of WASH complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of WASH complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in early endosome membrane NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
WASH complex subunit 3
Names
WASH complex subunit CCDC53
coiled-coil domain containing 53
coiled-coil domain-containing protein 53

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_001301107.1 → NP_001288036.1  WASH complex subunit 3 isoform 2

    See identical proteins and their annotated locations for NP_001288036.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC079907, BX356987, DB452335
    Consensus CDS
    CCDS73512.1
    UniProtKB/TrEMBL
    F5GXZ7, F5GZ97
    Related
    ENSP00000443857.1, ENST00000545679.5
    Conserved Domains (1) summary
    pfam10152
    Location:30 → 166
    CCDC53; Subunit CCDC53 of WASH complex

  2. NM_016053.4 → NP_057137.1  WASH complex subunit 3 isoform 1

    See identical proteins and their annotated locations for NP_057137.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC079907, AF151874
    Consensus CDS
    CCDS44959.1
    UniProtKB/Swiss-Prot
    B2RC74, Q53FF0, Q6IAI4, Q96QK0, Q9Y3C0
    UniProtKB/TrEMBL
    F5GXZ7
    Related
    ENSP00000240079.6, ENST00000240079.11
    Conserved Domains (1) summary
    pfam10152
    Location:30 → 167
    CCDC53; Subunit CCDC53 of WASH complex

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    102012840..102062124 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448998.2 → XP_024304766.1  WASH complex subunit 3 isoform X4

    Conserved Domains (1) summary
    pfam10152
    Location:18 → 133
    DUF2360; Predicted coiled-coil domain-containing protein (DUF2360)

  2. XM_017019383.2 → XP_016874872.1  WASH complex subunit 3 isoform X3

  3. XM_047428921.1 → XP_047284877.1  WASH complex subunit 3 isoform X2

  4. XM_011538423.2 → XP_011536725.1  WASH complex subunit 3 isoform X1

    UniProtKB/TrEMBL
    F5GWI9, F5GXZ7
    Related
    ENSP00000441810.1, ENST00000540536.5
    Conserved Domains (1) summary
    pfam10152
    Location:30 → 167
    DUF2360; Predicted coiled-coil domain-containing protein (DUF2360)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    101973971..102023257 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372163.1 → XP_054228138.1  WASH complex subunit 3 isoform X4

  2. XM_054372162.1 → XP_054228137.1  WASH complex subunit 3 isoform X3

  3. XM_054372161.1 → XP_054228136.1  WASH complex subunit 3 isoform X2

  4. XM_054372160.1 → XP_054228135.1  WASH complex subunit 3 isoform X1

    UniProtKB/TrEMBL
    F5GWI9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y3C0.1 GenPept UniProtKB/Swiss-Prot:Q9Y3C0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous