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  6. Homeobox protein Hox-C5

Tbio Homeobox protein Hox-C5

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

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn't encode a protein. The protein-coding transcript variant contains gene-specific exons only. [provided by RefSeq, Jul 2008]

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Property Summary

NCBI Gene PubMed Count 17
PubMed Score 11.44
PubTator Score 9.10

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q00444
Symbols CP11
HOX3
HOX3D

Gene

HOXC5

PANTHER Protein Class (3)

  Ortholog (6)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG
Cow OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

 GO Function (2)

 GO Component (2)

 GO Process (4)

 Compartment GO Term (19)

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 MGI Term (1)

 GWAS Trait (3)

 HCA RNA Cell Line (44)

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 UniProt Keyword (8)

Gene RIF (2)

PMID Text
16215934 The A17860G located in 3'flanking sequence of HOXC5 gene is associated with simple congenital heart disease; the haplotype of 3 SNPs may be linked with the susceptible gene of simple CHD.
16215934 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence 

MSSYVANSFYKQSPNIPAYNMQTCGNYGSASEVQASRYCYGGLDLSITFPPPAPSNSLHGVDMAANPRAH      1 - 70
PDRPACSAAAAPGHAPGRDEAAPLNPGMYSQKAARPALEERAKSSGEIKEEQAQTGQPAGLSQPPAPPQI     71 - 140
YPWMTKLHMSHETDGKRSRTSYTRYQTLELEKEFHFNRYLTRRRRIEIANNLCLNERQIKIWFQNRRMKW    141 - 210
KKDSKMKSKEAL                                                              211 - 222
//

Text Mined References (17)

PMID Year Title
22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16341674 2005 Transcriptome analysis of human gastric cancer.
16215934 2005 Analysis of single nucleotide polymorphisms and haplotypes in HOXC gene cluster within susceptible region 12q13 of simple congenital heart disease.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11857506 2002 Complete mutation analysis panel of the 39 human HOX genes.
8646877 1996 Fine mapping of human HOX gene clusters.
7913891 1994 The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins.
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