IRX5

Protein-coding gene in the species Homo sapiens
IRX5
Identifiers
AliasesIRX5, HMMS, IRX-2a, IRXB2, iroquois homeobox 5
External IDsOMIM: 606195 GeneCards: IRX5
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for IRX5
Genomic location for IRX5
Band16q12.2Start54,930,865 bp[1]
End54,934,485 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • bronchial epithelial cell

  • skin of abdomen

  • right ventricle

  • lactiferous duct

  • parotid gland

  • vulva

  • minor salivary gland

  • left ventricle

  • nipple

  • tibia
    n/a
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • sequence-specific DNA binding
  • DNA binding
  • vitamin D binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component
  • nucleus
Biological process
  • retinal bipolar neuron differentiation
  • regulation of gene expression
  • embryonic cranial skeleton morphogenesis
  • regulation of transcription, DNA-templated
  • gonad development
  • cell development
  • transcription, DNA-templated
  • regulation of heart rate
  • visual perception
  • neuron maturation
  • response to stimulus
  • regulation of transcription by RNA polymerase II
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

10265

n/a

Ensembl

ENSG00000176842

n/a

UniProt

P78411

n/a

RefSeq (mRNA)

NM_001252197
NM_005853

n/a

RefSeq (protein)

NP_001239126
NP_005844

n/a

Location (UCSC)Chr 16: 54.93 – 54.93 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Iroquois-class homeodomain protein IRX-5, also known as Iroquois homeobox protein 5, is a protein that in humans is encoded by the IRX5 gene.[3][4]

Function

IRX5 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[3] First described in a 2012 study by Reversade and colleagues, the loss of IRX5 in humans causes Hamamy Syndrome, a recessive developmental disorder mainly affecting the heart, long bones, and craniofacial structures. [5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000176842 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ a b "Entrez Gene: iroquois homeobox 1".
  4. ^ Ogura K, Matsumoto K, Kuroiwa A, Isobe T, Otoguro T, Jurecic V, et al. (2001). "Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes". Cytogenetics and Cell Genetics. 92 (3–4): 320–5. doi:10.1159/000056921. PMID 11435706. S2CID 46509502.
  5. ^ Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, et al. (May 2012). "Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1". Nature Genetics. 44 (6): 709–13. doi:10.1038/ng.2259. PMID 22581230. S2CID 5535474.

Further reading

  • Lewis MT, Ross S, Strickland PA, Snyder CJ, Daniel CW (June 1999). "Regulated expression patterns of IRX-2, an Iroquois-class homeobox gene, in the human breast". Cell and Tissue Research. 296 (3): 549–54. doi:10.1007/s004410051316. PMID 10370142. S2CID 37046813.
  • Bruneau BG (March 2006). "[Irx5: a transcription factor that regulates the cardiac repolarization gradient]". Médecine/Sciences. 22 (3): 231–2. doi:10.1051/medsci/2006223231. PMID 16527195.
  • Myrthue A, Rademacher BL, Pittsenbarger J, Kutyba-Brooks B, Gantner M, Qian DZ, Beer TM (June 2008). "The iroquois homeobox gene 5 is regulated by 1,25-dihydroxyvitamin D3 in human prostate cancer and regulates apoptosis and the cell cycle in LNCaP prostate cancer cells". Clinical Cancer Research. 14 (11): 3562–70. doi:10.1158/1078-0432.CCR-07-4649. PMID 18519790.
  • Kanno S, Kuzuoka H, Sasao S, Hong Z, Lan L, Nakajima S, Yasui A (April 2007). "A novel human AP endonuclease with conserved zinc-finger-like motifs involved in DNA strand break responses". The EMBO Journal. 26 (8): 2094–103. doi:10.1038/sj.emboj.7601663. PMC 1852789. PMID 17396150.

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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