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

Gene ID: 11169, updated on 5-Sep-2021

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
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

See WDHD1 in Genome Data Viewer
Location:
14q22.2-q22.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (54938949..55027106, complement)
105.20201022 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 microRNA 4308 Neighboring gene farnesyl diphosphate synthase pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 2393 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

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
involved_in DNA-dependent DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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)

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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_001008396.3NP_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/Swiss-Prot
    O75717
    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
    O75717
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    54938949..55027106 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020941.2XP_016876430.1  WD repeat and HMG-box DNA-binding protein 1 isoform X4

  2. 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]
  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

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