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

Gene ID: 11169, updated on 7-Apr-2024

Summary

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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
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Genomic context

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Location:
14q22.2-q22.3
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (54938949..55027099, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (49144139..49232288, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (55405667..55493817, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene GTP cyclohydrolase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8421 Neighboring gene microRNA 4308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:55364129-55364629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5774 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5775 Neighboring gene farnesyl diphosphate synthase pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 2393 Neighboring gene ribosomal protein SA pseudogene 13 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:55493639-55494166 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:55494167-55494693 Neighboring gene suppressor of cytokine signaling 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:55517727-55518416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5779 Neighboring gene mitogen-activated protein kinase 1 interacting protein 1 like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Targeted inhibition of acidic nucleoplasmic DNA-binding protein 1 enhances radiosensitivity of non-small cell lung cancer. Gou W, et al. Cancer Lett, 2022 Apr 1. PMID 35065237
  2. 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. Wu JY, et al. Pathol Res Pract, 2022 Feb. PMID 34999279
  3. WDHD1 facilitates G1 checkpoint abrogation in HPV E7 expressing cells by modulating GCN5. Zhou Y, et al. BMC Cancer, 2020 Sep 3. PMID 32883234, Free PMC Article
  4. AND-1 fork protection function prevents fork resection and is essential for proliferation. Abe T, et al. Nat Commun, 2018 Aug 6. PMID 30082684, Free PMC Article
  5. The structure and polymerase-recognition mechanism of the crucial adaptor protein AND-1 in the human replisome. Guan C, et al. J Biol Chem, 2017 Jun 9. PMID 28381552, Free PMC Article

See all (88) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. The WDHD1 gene, one of the genes that is upregulated in human papillomavirus E7-expressing cells, was found to play an important role in E7-induced G1 checkpoint abrogation and rereplication
    Title: Role of WDHD1 in Human Papillomavirus-Mediated Oncogenesis Identified by Transcriptional Profiling of E7-Expressing Cells.
Submit: New GeneRIF Correction See all GeneRIFs (24)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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)

  1. NM_001008396.3 → NP_001008397.1  WD repeat and HMG-box DNA-binding protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001008397.1

    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 ...

  2. NM_007086.4 → NP_009017.1  WD repeat and HMG-box DNA-binding protein 1 isoform 1

    See identical proteins and their annotated locations for NP_009017.1

    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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    54938949..55027099 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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]

  2. 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

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    49144139..49232288 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75717.1 GenPept UniProtKB/Swiss-Prot:O75717

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