WDHD1 WD repeat and HMG-box DNA binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDHD1provided by HGNC
Official Full Name: WD repeat and HMG-box DNA binding protein 1provided by HGNC
Primary source: HGNC:HGNC:23170
See related: Ensembl:ENSG00000198554 MIM:608126; AllianceGenome:HGNC:23170
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: AND1; CTF4; AND-1; CHTF4
Summary: The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 3.1), lymph node (RPKM 2.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q22.2-q22.3

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (54938949..55027099, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (49144139..49232288, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (55405667..55493817, complement)

Chromosome 14 - NC_000014.9 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: 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?

ZBTB16 inhibits DNA replication and induces cell cycle arrest by targeting WDHD1 transcription in lung adenocarcinoma.
Title: ZBTB16 inhibits DNA replication and induces cell cycle arrest by targeting WDHD1 transcription in lung adenocarcinoma.
The clinical significance of transcription factor WD repeat and HMG-box DNA binding protein 1 in laryngeal squamous cell carcinoma and its potential molecular mechanism.
Title: The clinical significance of transcription factor WD repeat and HMG-box DNA binding protein 1 in laryngeal squamous cell carcinoma and its potential molecular mechanism.
Targeted inhibition of acidic nucleoplasmic DNA-binding protein 1 enhances radiosensitivity of non-small cell lung cancer.
Title: Targeted inhibition of acidic nucleoplasmic DNA-binding protein 1 enhances radiosensitivity of non-small cell lung cancer.
WDHD1 is essential for the survival of PTEN-inactive triple-negative breast cancer.
Title: WDHD1 is essential for the survival of PTEN-inactive triple-negative breast cancer.
WDHD1 facilitates G1 checkpoint abrogation in HPV E7 expressing cells by modulating GCN5.
Title: WDHD1 facilitates G1 checkpoint abrogation in HPV E7 expressing cells by modulating GCN5.
The study indicated that miR-494 overexpression suppresses epithelial-mesenchymal transition, tumor formation and lymph node metastasis while promoting cholangiocarcinoma (CCA) cell apoptosis through inhibiting WDHD1 in CCA.
Title: MicroRNA-494-dependent WDHDI inhibition suppresses epithelial-mesenchymal transition, tumor growth and metastasis in cholangiocarcinoma.
AND-1 depletion is incompatible with proliferation, owing to cells accumulating in G2 with activated DNA damage checkpoint
Title: AND-1 fork protection function prevents fork resection and is essential for proliferation.
important role of And-1 in homologous recombination repair by regulating CtIP-mediated DNA double-strand break end resection
Title: And-1 is required for homologous recombination repair by regulating DNA end resection.
And-1 interacts with CtIP and that these interactions are required for DNA damage checkpoint maintenance, thereby linking DNA processing with prolonged cell cycle arrest to allow sufficient time for DNA repair.
Title: And-1 coordinates with CtIP for efficient homologous recombination and DNA damage checkpoint maintenance.
findings provide important insights into the mechanistic details of human AND-1 function, advancing our understanding of replisome formation during eukaryotic replication.
Title: The structure and polymerase-recognition mechanism of the crucial adaptor protein AND-1 in the human replisome.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. 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

RH121830 (e-PCR)
- UniSTS:134979

RH102782 (e-PCR)
- UniSTS:97116

RH45114 (e-PCR)
- UniSTS:74855

G35898 (e-PCR)
- UniSTS:38068

RH104447 (e-PCR)
- UniSTS:98771

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA-templated DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
is_active_in nuclear replication fork	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: WD repeat and HMG-box DNA-binding protein 1

Names: Acidic nucleoplasmic DNA-binding protein 1; CTF4, chromosome transmission fidelity factor 4 homolog

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_001008396.3 → NP_001008397.1 WD repeat and HMG-box DNA-binding protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2) that has a shortened N-terminus, compared to isoform 1.

Source sequence(s)

AL160471, BC063041, CB053003, DA189308

Consensus CDS

CCDS41955.1

UniProtKB/TrEMBL

A8KAE0

Related

ENSP00000399349.2, ENST00000420358.2

Conserved Domains (5) summary

smart00398
Location:894 → 951

HMG; high mobility group

COG2319
Location:2 → 176

WD40; WD40 repeat [General function prediction only]

pfam12341
Location:309 → 591

Mcl1_mid; Minichromosome loss protein, Mcl1, middle region

sd00039
Location:17 → 59

7WD40; WD40 repeat [structural motif]

cl02567
Location:5 → 165

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_007086.4 → NP_009017.1 WD repeat and HMG-box DNA-binding protein 1 isoform 1

Status: REVIEWED

Description

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

Source sequence(s)

AL160471, BC063041, CB053003, DB082418

Consensus CDS

CCDS9721.1

UniProtKB/Swiss-Prot

C9JW18, F6W0U7, O75717

UniProtKB/TrEMBL

A8KAE0

Related

ENSP00000353793.3, ENST00000360586.8

Conserved Domains (5) summary

smart00398
Location:1017 → 1074

HMG; high mobility group

COG2319
Location:11 → 299

WD40; WD40 repeat [General function prediction only]

cd00200
Location:10 → 288

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 ...

pfam12341
Location:432 → 714

Mcl1_mid; Minichromosome loss protein, Mcl1, middle region

sd00039
Location:21 → 54

7WD40; WD40 repeat [structural motif]

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

54938949..55027099 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006720012.2 → XP_006720075.1 WD repeat and HMG-box DNA-binding protein 1 isoform X1

UniProtKB/TrEMBL

A8KAE0

Conserved Domains (5) summary

smart00398
Location:1015 → 1072

HMG; high mobility group

COG2319
Location:11 → 299

WD40; WD40 repeat [General function prediction only]

cd00200
Location:10 → 288

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 ...

pfam12341
Location:432 → 714

Mcl1_mid; Minichromosome loss protein, Mcl1, middle region

sd00039
Location:21 → 54

7WD40; WD40 repeat [structural motif]
XM_011536373.3 → XP_011534675.1 WD repeat and HMG-box DNA-binding protein 1 isoform X2

UniProtKB/TrEMBL

B3KMD2

Conserved Domains (2) summary

smart00398
Location:654 → 711

HMG; high mobility group

pfam12341
Location:69 → 351

Mcl1_mid; Minichromosome loss protein, Mcl1, middle region

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

49144139..49232288 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054375294.1 → XP_054231269.1 WD repeat and HMG-box DNA-binding protein 1 isoform X1
XM_054375295.1 → XP_054231270.1 WD repeat and HMG-box DNA-binding protein 1 isoform X2