DCAF12 DDB1 and CUL4 associated factor 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DCAF12provided by HGNC
Official Full Name: DDB1 and CUL4 associated factor 12provided by HGNC
Primary source: HGNC:HGNC:19911
See related: Ensembl:ENSG00000198876 MIM:620087; AllianceGenome:HGNC:19911
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: CT102; TCC52; WDR40A; KIAA1892
Summary: This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]
Expression: Broad expression in testis (RPKM 38.2), lymph node (RPKM 19.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (34086387..34126698, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (34104956..34145564, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (34086385..34126696, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CRL4-DCAF12 Ubiquitin Ligase Controls MOV10 RNA Helicase during Spermatogenesis and T Cell Activation.
Title: CRL4-DCAF12 Ubiquitin Ligase Controls MOV10 RNA Helicase during Spermatogenesis and T Cell Activation.
Of the classifier's 11 informative genes, expression of MIR and WDR40 showed statistically significant increases for both Grade 1B and Grade >or=3A rejection.
Title: Gene expression profiling distinguishes a molecular signature for grade 1B mild acute cellular rejection in cardiac allograft recipients.
TCC52, as a novel CT antigen, would be a promising candidate for cancer immunotherapy.
Title: Novel centrosome protein, TCC52, is a cancer-testis antigen.

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

EBI GWAS Catalog

Description
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH45345 (e-PCR)
- UniSTS:70954

G59679 (e-PCR)
- UniSTS:136833

NoName (e-PCR)
- UniSTS:484034

STS-W90655 (e-PCR)
- UniSTS:34025

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
acts_upstream_of regulation of autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Cul4-RING E3 ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul4-RING E3 ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
part_of Cul4-RING E3 ubiquitin ligase complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: DDB1- and CUL4-associated factor 12

Names: WD repeat domain 40A; WD repeat-containing protein 40A; cancer/testis antigen 102; centrosome-related protein TCC52; testis cancer centrosome-related protein

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)

NM_015397.4 → NP_056212.1 DDB1- and CUL4-associated factor 12

See identical proteins and their annotated locations for NP_056212.1

Status: REVIEWED

Source sequence(s)

AB067479, AL354989, BM144957, BM747928

Consensus CDS

CCDS6549.1

UniProtKB/Swiss-Prot

A8KA70, D3DRL6, Q5T6E9, Q5T6F0, Q5T6F1, Q6P3V0, Q7L4F8, Q96PZ5, Q9NXA9, Q9UFJ1

Related

ENSP00000355114.3, ENST00000361264.9

Conserved Domains (2) summary

sd00039
Location:137 → 180

7WD40; WD40 repeat [structural motif]

cl25539
Location:85 → 279

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...