DCAF5 DDB1 and CUL4 associated factor 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DCAF5provided by HGNC
Official Full Name: DDB1 and CUL4 associated factor 5provided by HGNC
Primary source: HGNC:HGNC:20224
See related: Ensembl:ENSG00000139990 MIM:603812; AllianceGenome:HGNC:20224
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: BCRG2; BCRP2; WDR22; D14S1461E
Summary: Predicted to be involved in negative regulation of fatty acid biosynthetic process. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 20.5), thyroid (RPKM 9.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q24.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (69050881..69153197, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (63263958..63366302, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (69517598..69619914, complement)

Chromosome 14 - NC_000014.9 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 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?

Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF.
Title: Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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

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

RH99180 (e-PCR)
- UniSTS:88090

SHGC-37528 (e-PCR)
- UniSTS:43553

RH91357 (e-PCR)
- UniSTS:85570

G35482 (e-PCR)
- UniSTS:24932

RH122414 (e-PCR)
- UniSTS:135284

WI-14076 (e-PCR)
- UniSTS:72052

D14S848 (e-PCR)
- UniSTS:29576

D10S2387 (e-PCR)
- UniSTS:29577

D14S244 (e-PCR)
- UniSTS:148366

RH79197 (e-PCR)
- UniSTS:3482

SHGC-36869 (e-PCR)
- UniSTS:22993

G36216 (e-PCR)
- UniSTS:21998

D14S1011 (e-PCR)
- UniSTS:50167

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 negative regulation of fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

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
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: DDB1- and CUL4-associated factor 5

Names: WD repeat-containing protein 22; breakpoint cluster region protein, uterine leiomyoma, 2

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_001284206.1 → NP_001271135.1 DDB1- and CUL4-associated factor 5 isoform 2

See identical proteins and their annotated locations for NP_001271135.1

Status: VALIDATED

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)

AK094283, BC013239, BC136632, BM681039, BX648006

Consensus CDS

CCDS61481.1

UniProtKB/Swiss-Prot

Q96JK2

Related

ENSP00000451845.1, ENST00000557386.5

Conserved Domains (3) summary

COG2319
Location:16 → 360

WD40; WD40 repeat [General function prediction only]

sd00039
Location:105 → 139

7WD40; WD40 repeat [structural motif]

cl02567
Location:49 → 360

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 ...
NM_001284207.1 → NP_001271136.1 DDB1- and CUL4-associated factor 5 isoform 3

See identical proteins and their annotated locations for NP_001271136.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.

Source sequence(s)

AB058727, AL831932, BC013239, BC136632, BM681039, BX648006

Consensus CDS

CCDS61480.1

UniProtKB/Swiss-Prot

Q96JK2

Related

ENSP00000451551.1, ENST00000554215.5

Conserved Domains (3) summary

COG2319
Location:7 → 279

WD40; WD40 repeat [General function prediction only]

sd00039
Location:22 → 58

7WD40; WD40 repeat [structural motif]

cl02567
Location:13 → 317

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 ...
NM_001284208.2 → NP_001271137.1 DDB1- and CUL4-associated factor 5 isoform 4

See identical proteins and their annotated locations for NP_001271137.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks multiple 3' exons and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK094283, BC022967, DB507867

Consensus CDS

CCDS73646.1

UniProtKB/TrEMBL

Q8TBB7

Related

ENSP00000374647.6, ENST00000389997.10

Conserved Domains (2) summary

sd00039
Location:57 → 98

7WD40; WD40 repeat [structural motif]

cl29593
Location:49 → 248

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 ...
NM_003861.3 → NP_003852.1 DDB1- and CUL4-associated factor 5 isoform 1

See identical proteins and their annotated locations for NP_003852.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AB058727, AL391262, BC013239, BC136632, BX648006, DA058347, R41943

Consensus CDS

CCDS32106.1

UniProtKB/Swiss-Prot

B2RN31, G3V4J7, O60559, Q8N3V3, Q8N3V5, Q96JK2

Related

ENSP00000341351.5, ENST00000341516.10

Conserved Domains (3) summary

COG2319
Location:16 → 361

WD40; WD40 repeat [General function prediction only]

sd00039
Location:57 → 98

7WD40; WD40 repeat [structural motif]

cl02567
Location:49 → 361

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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

69050881..69153197 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006720298.3 → XP_006720361.1 DDB1- and CUL4-associated factor 5 isoform X2

Conserved Domains (3) summary

COG2319
Location:16 → 395

WD40; WD40 repeat [General function prediction only]

sd00039
Location:57 → 98

7WD40; WD40 repeat [structural motif]

cl02567
Location:49 → 395

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 ...
XM_006720297.3 → XP_006720360.1 DDB1- and CUL4-associated factor 5 isoform X1

Conserved Domains (3) summary

COG2319
Location:16 → 396

WD40; WD40 repeat [General function prediction only]

sd00039
Location:57 → 98

7WD40; WD40 repeat [structural motif]

cl02567
Location:49 → 396

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 ...
XM_011537278.2 → XP_011535580.1 DDB1- and CUL4-associated factor 5 isoform X3

See identical proteins and their annotated locations for XP_011535580.1

Conserved Domains (3) summary

COG2319
Location:18 → 319

WD40; WD40 repeat [General function prediction only]

sd00039
Location:22 → 58

7WD40; WD40 repeat [structural motif]

cl02567
Location:13 → 356

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 ...
XM_006720299.4 → XP_006720362.1 DDB1- and CUL4-associated factor 5 isoform X3

See identical proteins and their annotated locations for XP_006720362.1

Conserved Domains (3) summary

COG2319
Location:18 → 319

WD40; WD40 repeat [General function prediction only]

sd00039
Location:22 → 58

7WD40; WD40 repeat [structural motif]

cl02567
Location:13 → 356

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 ...
XM_017021733.2 → XP_016877222.1 DDB1- and CUL4-associated factor 5 isoform X3

Conserved Domains (3) summary

COG2319
Location:18 → 319

WD40; WD40 repeat [General function prediction only]

sd00039
Location:22 → 58

7WD40; WD40 repeat [structural motif]

cl02567
Location:13 → 356

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 ...
XM_047431847.1 → XP_047287803.1 DDB1- and CUL4-associated factor 5 isoform X3
XM_011537279.3 → XP_011535581.1 DDB1- and CUL4-associated factor 5 isoform X3

See identical proteins and their annotated locations for XP_011535581.1

Conserved Domains (3) summary

COG2319
Location:18 → 319

WD40; WD40 repeat [General function prediction only]

sd00039
Location:22 → 58

7WD40; WD40 repeat [structural motif]

cl02567
Location:13 → 356

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 ...
XM_047431846.1 → XP_047287802.1 DDB1- and CUL4-associated factor 5 isoform X3
XM_017021737.2 → XP_016877226.1 DDB1- and CUL4-associated factor 5 isoform X5
XM_011537280.4 → XP_011535582.1 DDB1- and CUL4-associated factor 5 isoform X4

Conserved Domains (1) summary

cl02567
Location:107 → 217

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 ...