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

    Gene ID: 11169, updated on 15-May-2017
    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; Vega:OTTHUMG00000140304
    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]
    Orthologs
    Location:
    14q22.2-q22.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (54938938..55027105, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (55405656..55493819, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene GTP cyclohydrolase 1 Neighboring gene microRNA 4308 Neighboring gene farnesyl diphosphate synthase pseudogene 3 Neighboring gene ribosomal protein SA pseudogene 13 Neighboring gene suppressor of cytokine signaling 4 Neighboring gene mitogen-activated protein kinase 1 interacting protein 1 like

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
    NHGRI GWA Catalog
    • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
      Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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_001008396.2NP_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/Swiss-Prot
      O75717
      Related
      ENSP00000399349.2, OTTHUMP00000197498, ENST00000420358.2, OTTHUMT00000318343
      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_007086.3NP_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
      O75717
      Related
      ENSP00000353793.3, OTTHUMP00000178995, ENST00000360586.7, OTTHUMT00000276897
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      54938938..55027105 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

      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_017020941.1XP_016876430.1  WD repeat and HMG-box DNA-binding protein 1 isoform X4

    3. XM_011536373.2XP_011534675.1  WD repeat and HMG-box DNA-binding protein 1 isoform X3

      Conserved Domains (2) summary
      smart00398
      Location:654711
      HMG; high mobility group
      pfam12341
      Location:69351
      Mcl1_mid; Minichromosome loss protein, Mcl1, middle region
    4. XM_017020940.1XP_016876429.1  WD repeat and HMG-box DNA-binding protein 1 isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      55344261..55432436 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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