HOXC5

Protein-coding gene in the species Homo sapiens
HOXC5
Identifiers
AliasesHOXC5, CP11, HOX3, HOX3D, homeobox C5
External IDsOMIM: 142973 MGI: 96196 HomoloGene: 41296 GeneCards: HOXC5
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for HOXC5
Genomic location for HOXC5
Band12q13.13Start54,033,050 bp[1]
End54,035,361 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for HOXC5
Genomic location for HOXC5
Band15 F3|15 58.07 cMStart102,875,878 bp[2]
End102,925,861 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • left uterine tube

  • right uterine tube

  • fundus

  • body of stomach

  • popliteal artery

  • tibial nerve

  • subcutaneous adipose tissue

  • right adrenal gland

  • gastric mucosa

  • gastrocnemius muscle
Top expressed in
  • superior cervical ganglion

  • urethra

  • male urethra

  • esophagus

  • neural tube

  • yolk sac

  • abdominal wall

  • renal corpuscle

  • trachea

  • stomach
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • DNA-binding transcription factor activity
  • sequence-specific DNA binding
  • DNA binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
Cellular component
  • cell junction
  • nucleus
  • nucleoplasm
Biological process
  • regulation of transcription by RNA polymerase II
  • multicellular organism development
  • regulation of transcription, DNA-templated
  • transcription, DNA-templated
  • anterior/posterior pattern specification
  • embryonic skeletal system development
  • positive regulation of transcription by RNA polymerase II
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3222

15424

Ensembl

ENSG00000172789

ENSMUSG00000022485

UniProt

Q00444

P32043

RefSeq (mRNA)

NM_018953

NM_175730

RefSeq (protein)

NP_061826

NP_783857

Location (UCSC)Chr 12: 54.03 – 54.04 MbChr 15: 102.88 – 102.93 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein Hox-C5 is a protein that in humans is encoded by the HOXC5 gene.[5][6][7]

Function

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.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172789 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022485 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ McAlpine PJ, Shows TB (Jul 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
  6. ^ Scott MP (Nov 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459. S2CID 13370372.
  7. ^ a b "Entrez Gene: HOXC5 homeobox C5".

Further reading

  • Arcioni L, Simeone A, Guazzi S, Zappavigna V, Boncinelli E, Mavilio F (Jan 1992). "The upstream region of the human homeobox gene HOX3D is a target for regulation by retinoic acid and HOX homeoproteins". The EMBO Journal. 11 (1): 265–77. doi:10.1002/j.1460-2075.1992.tb05049.x. PMC 556447. PMID 1346761.
  • Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E (Dec 1989). "The human HOX gene family". Nucleic Acids Research. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMC 335308. PMID 2574852.
  • Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A (1990). "Organization of human class I homeobox genes". Genome. 31 (2): 745–56. doi:10.1139/g89-133. PMID 2576652.
  • Rabin M, Ferguson-Smith A, Hart CP, Ruddle FH (Dec 1986). "Cognate homeo-box loci mapped on homologous human and mouse chromosomes". Proceedings of the National Academy of Sciences of the United States of America. 83 (23): 9104–8. Bibcode:1986PNAS...83.9104R. doi:10.1073/pnas.83.23.9104. PMC 387083. PMID 2878432.
  • Simeone A, Pannese M, Acampora D, D'Esposito M, Boncinelli E (Jun 1988). "At least three human homeoboxes on chromosome 12 belong to the same transcription unit". Nucleic Acids Research. 16 (12): 5379–90. doi:10.1093/nar/16.12.5379. PMC 336773. PMID 2898768.
  • Guazzi S, Lonigro R, Pintonello L, Boncinelli E, Di Lauro R, Mavilio F (Jul 1994). "The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins". The EMBO Journal. 13 (14): 3339–47. doi:10.1002/j.1460-2075.1994.tb06636.x. PMC 395231. PMID 7913891.
  • Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B (1996). "Fine mapping of human HOX gene clusters". Cytogenetics and Cell Genetics. 73 (1–2): 114–5. doi:10.1159/000134320. PMID 8646877.
  • Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (Feb 2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies


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