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

    Gene ID: 11169, updated on 28-Oct-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WDHD1 in Genome Data Viewer
    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_000014.9Genomic 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001008396.3NP_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:894951
      HMG; high mobility group
      COG2319
      Location:2176
      WD40; WD40 repeat [General function prediction only]
      pfam12341
      Location:309591
      Mcl1_mid; Minichromosome loss protein, Mcl1, middle region
      sd00039
      Location:1759
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:5165
      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_007086.4NP_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:10171074
      HMG; high mobility group
      COG2319
      Location:11299
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:10288
      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:432714
      Mcl1_mid; Minichromosome loss protein, Mcl1, middle region
      sd00039
      Location:2154
      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

    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_006720012.2XP_006720075.1  WD repeat and HMG-box DNA-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      A8KAE0
      Conserved Domains (5) summary
      smart00398
      Location:10151072
      HMG; high mobility group
      COG2319
      Location:11299
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:10288
      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:432714
      Mcl1_mid; Minichromosome loss protein, Mcl1, middle region
      sd00039
      Location:2154
      7WD40; WD40 repeat [structural motif]
    2. XM_011536373.3XP_011534675.1  WD repeat and HMG-box DNA-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      B3KMD2
      Conserved Domains (2) summary
      smart00398
      Location:654711
      HMG; high mobility group
      pfam12341
      Location:69351
      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_054375294.1XP_054231269.1  WD repeat and HMG-box DNA-binding protein 1 isoform X1

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