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Aliases for HOXD1 Gene

Aliases for HOXD1 Gene

  • Homeobox D1 2 3 5
  • Homeobox Protein Hox-GG 3 4
  • Homeo Box D1 2 3
  • HOX4G 3 4
  • HOX4 3 4
  • Homeo Box 4G 3
  • Hox-4.7 3

External Ids for HOXD1 Gene

Previous HGNC Symbols for HOXD1 Gene

  • HOX4
  • HOX4G

Previous GeneCards Identifiers for HOXD1 Gene

  • GC02P175105
  • GC02P175714
  • GC02P177017
  • GC02P177255
  • GC02P176878
  • GC02P176761
  • GC02P177053
  • GC02P168930

Summaries for HOXD1 Gene

Entrez Gene Summary for HOXD1 Gene

  • This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. [provided by RefSeq, Jul 2008]

GeneCards Summary for HOXD1 Gene

HOXD1 (Homeobox D1) is a Protein Coding gene. Among its related pathways are Developmental Biology and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HOXD3.

UniProtKB/Swiss-Prot for HOXD1 Gene

  • Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures.

Gene Wiki entry for HOXD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXD1 Gene

Genomics for HOXD1 Gene

Regulatory Elements for HOXD1 Gene

Promoters for HOXD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HOXD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HOXD1 Gene

Chromosome:
2
Start:
176,188,579 bp from pter
End:
176,190,907 bp from pter
Size:
2,329 bases
Orientation:
Plus strand

Genomic View for HOXD1 Gene

Genes around HOXD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXD1 Gene

Proteins for HOXD1 Gene

  • Protein details for HOXD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZZ0-HXD1_HUMAN
    Recommended name:
    Homeobox protein Hox-D1
    Protein Accession:
    Q9GZZ0
    Secondary Accessions:
    • B2RAB4

    Protein attributes for HOXD1 Gene

    Size:
    328 amino acids
    Molecular mass:
    34093 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HOXD1 Gene

Proteomics data for HOXD1 Gene at MOPED

Post-translational modifications for HOXD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HOXD1 Gene

Domains & Families for HOXD1 Gene

Gene Families for HOXD1 Gene

Protein Domains for HOXD1 Gene

Suggested Antigen Peptide Sequences for HOXD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9GZZ0

UniProtKB/Swiss-Prot:

HXD1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the Antp homeobox family. Labial subfamily.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the Antp homeobox family. Labial subfamily.
genes like me logo Genes that share domains with HOXD1: view

Function for HOXD1 Gene

Molecular function for HOXD1 Gene

GENATLAS Biochemistry:
homeo box D1(4G),homologous to mouse Hox-4.9,Drosophila lab
UniProtKB/Swiss-Prot Function:
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures.
genes like me logo Genes that share phenotypes with HOXD1: view

Animal Models for HOXD1 Gene

MGI Knock Outs for HOXD1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HOXD1 Gene

Localization for HOXD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HOXD1 Gene COMPARTMENTS Subcellular localization image for HOXD1 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for HOXD1 Gene

Pathways & Interactions for HOXD1 Gene

genes like me logo Genes that share pathways with HOXD1: view

Gene Ontology (GO) - Biological Process for HOXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0019233 sensory perception of pain IEA --
GO:0048706 embryonic skeletal system development IEA --
genes like me logo Genes that share ontologies with HOXD1: view

No data available for SIGNOR curated interactions for HOXD1 Gene

Drugs & Compounds for HOXD1 Gene

No Compound Related Data Available

Transcripts for HOXD1 Gene

mRNA/cDNA for HOXD1 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(44) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HOXD1 Gene

Homeobox D1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HOXD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3
SP1:
SP2: -

Relevant External Links for HOXD1 Gene

GeneLoc Exon Structure for
HOXD1
ECgene alternative splicing isoforms for
HOXD1

Expression for HOXD1 Gene

mRNA expression in normal human tissues for HOXD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXD1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x10.8), Brain - Substantia nigra (x5.4), and Kidney - Cortex (x4.2).

SOURCE GeneReport for Unigene cluster for HOXD1 Gene Hs.83465

genes like me logo Genes that share expression patterns with HOXD1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for HOXD1 Gene

Orthologs for HOXD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOXD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HOXD1 35
  • 97.87 (n)
  • 97.26 (a)
HOXD1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HOXD1 36
  • 83 (a)
OneToOne
HOXD1 35
  • 85.71 (n)
  • 83.23 (a)
dog
(Canis familiaris)
Mammalia HOXD1 35
  • 82.11 (n)
  • 77.52 (a)
HOXD1 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hoxd1 16
Hoxd1 36
  • 82 (a)
OneToOne
Hoxd1 35
  • 81.95 (n)
  • 83.38 (a)
oppossum
(Monodelphis domestica)
Mammalia HOXD1 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 63 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Hoxd1 35
  • 82.56 (n)
  • 83.69 (a)
lizard
(Anolis carolinensis)
Reptilia HOXD1 36
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxd1 35
  • 59.59 (n)
  • 56.12 (a)
zebrafish
(Danio rerio)
Actinopterygii hoxc1a 36
  • 29 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta lab 36
  • 15 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ceh-13 36
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToOne
Species with no ortholog for HOXD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HOXD1 Gene

ENSEMBL:
Gene Tree for HOXD1 (if available)
TreeFam:
Gene Tree for HOXD1 (if available)

Paralogs for HOXD1 Gene

(2) SIMAP similar genes for HOXD1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HOXD1: view

Variants for HOXD1 Gene

Sequence variations from dbSNP and Humsavar for HOXD1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_034003 -
rs55790665 -- 176,191,150(+) AGTAG(C/G)TGGGA downstream-variant-500B
rs183053159 -- 176,191,266(+) GATCC(A/G)CCCAC downstream-variant-500B
rs144649132 -- 176,191,331(+) AACTT(C/T)TAAAA downstream-variant-500B
rs138830306 -- 176,191,203(+) TTTTT(A/G)GTAGA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for HOXD1 Gene

Variant ID Type Subtype PubMed ID
dgv676n67 CNV Gain 20364138
nsv875438 CNV Loss 21882294

Variation tolerance for HOXD1 Gene

Residual Variation Intolerance Score: 48.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.92; 83.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HOXD1 Gene

HapMap Linkage Disequilibrium report
HOXD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXD1 Gene

Disorders for HOXD1 Gene

Relevant External Links for HOXD1

Genetic Association Database (GAD)
HOXD1
Human Genome Epidemiology (HuGE) Navigator
HOXD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HOXD1

No disorders were found for HOXD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HOXD1 Gene

Publications for HOXD1 Gene

  1. A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. (PMID: 20852632) Goode E.L. … Pharoah P.D. (Nat. Genet. 2010) 3 48 67
  2. Vertebrate homeobox gene nomenclature. (PMID: 1358459) Scott M.P. (Cell 1992) 2 3
  3. Nomenclature for human homeobox genes. (PMID: 1973146) McAlpine P.J. … Shows T.B. (Genomics 1990) 2 3
  4. Interleukin-27 treated human macrophages induce the expression of novel microRNAs which may mediate anti-viral properties. (PMID: 23535375) Swaminathan S. … Imamichi T. (Biochem. Biophys. Res. Commun. 2013) 3
  5. Genome-wide methylation screen in low-grade breast cancer identifies novel epigenetically altered genes as potential biomarkers for tumor diagnosis. (PMID: 22930747) Faryna M. … Gerhauser C. (FASEB J. 2012) 3

Products for HOXD1 Gene

Sources for HOXD1 Gene

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