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

    Gene ID: 11169, updated on 5-May-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
    mouse all
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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

    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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