DCAF13 DDB1 and CUL4 associated factor 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DCAF13provided by HGNC
Official Full Name: DDB1 and CUL4 associated factor 13provided by HGNC
Primary source: HGNC:HGNC:24535
See related: Ensembl:ENSG00000164934 MIM:616196; AllianceGenome:HGNC:24535
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: GM83; Sof1; WDSOF1; HSPC064
Summary: Enables estrogen receptor binding activity. Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in several cellular components, including centrosome; cytosol; and nuclear lumen. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 16.5), kidney (RPKM 11.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (103415386..103443453)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (104543035..104571087)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (104427614..104455681)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CRL4[DCAF13] E3 ubiquitin ligase targets MeCP2 for degradation to prevent DNA hypermethylation and ensure normal transcription in growing oocytes.
Title: CRL4(DCAF13) E3 ubiquitin ligase targets MeCP2 for degradation to prevent DNA hypermethylation and ensure normal transcription in growing oocytes.
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans.
Title: A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans.
A multidimensional pan-cancer analysis of DCAF13 and its protumorigenic effect in lung adenocarcinoma.
Title: A multidimensional pan-cancer analysis of DCAF13 and its protumorigenic effect in lung adenocarcinoma.
DCAF13 is essential for the pathogenesis of preeclampsia through its involvement in endometrial decidualization.
Title: DCAF13 is essential for the pathogenesis of preeclampsia through its involvement in endometrial decidualization.
DCAF13 promotes breast cancer cell proliferation by ubiquitin inhibiting PERP expression.
Title: DCAF13 promotes breast cancer cell proliferation by ubiquitin inhibiting PERP expression.
Doxorubicin promotes breast cancer cell migration and invasion via DCAF13.
Title: Doxorubicin promotes breast cancer cell migration and invasion via DCAF13.
DCAF13 promotes triple-negative breast cancer metastasis by mediating DTX3 mRNA degradation.
Title: DCAF13 promotes triple-negative breast cancer metastasis by mediating DTX3 mRNA degradation.
The DCAF13 deficiency resulted in pre-rRNA accumulation in oocytes, whereas the total mRNA level was not altered. Further exploration showed that DCAF13 participated in the 18S rRNA processing in growing oocytes.
Title: Mammalian nucleolar protein DCAF13 is essential for ovarian follicle maintenance and oocyte growth by mediating rRNA processing.
Two novel variants in the DCAF13 and NOV genes were identified that are associated with familial cortical myoclonic tremor with epilepsy in a Chinese pedigree.
Title: Whole exome sequencing reveals novel NOV and DCAF13 variants in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy.
our findings revealed that the overexpression of DCAF13 in hepatocellular carcinoma was significantly associated with poor survival and may participate in the regulation of cell cycle progression
Title: The overexpression and prognostic role of DCAF13 in hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

H05L03.2 (e-PCR)
- UniSTS:311318

D8S2279 (e-PCR)
- UniSTS:473907

D11S3663 (e-PCR)
- UniSTS:152897

RH65390 (e-PCR)
- UniSTS:7364

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables nuclear estrogen receptor binding	IPI Inferred from Physical Interaction more info	PubMed
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 decidualization	IDA Inferred from Direct Assay more info	PubMed
involved_in epigenetic programming in the zygotic pronuclei	IDA Inferred from Direct Assay more info	PubMed
involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info
involved_in oocyte growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in rRNA processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in spindle assembly involved in female meiosis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Cul4-RING E3 ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info
located_in centrosome	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of small-subunit processome	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: DDB1- and CUL4-associated factor 13

Names: WD repeat and SOF domain-containing protein 1; WD repeats and SOF1 domain containing

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_001416065.1 → NP_001402994.1 DDB1- and CUL4-associated factor 13 isoform 2

Status: VALIDATED

Source sequence(s)

AC012213
NM_015420.7 → NP_056235.5 DDB1- and CUL4-associated factor 13 isoform 1

Status: VALIDATED

Source sequence(s)

AC012213, AK027799, CA429438

Consensus CDS

CCDS34934.2

UniProtKB/Swiss-Prot

Q3MII9, Q8NCH8, Q8TC51, Q96JY7, Q9NV06, Q9NZX3

Related

ENSP00000484962.1, ENST00000612750.5

Conserved Domains (3) summary

cd00200
Location:59 → 353

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 ...

sd00039
Location:70 → 107

7WD40; WD40 repeat [structural motif]

pfam04158
Location:354 → 435

Sof1; Sof1-like domain