Aristaless related homeobox

Protein-coding gene in humans
ARX
Identifiers
AliasesARX, CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS, aristaless related homeobox
External IDsOMIM: 300382 MGI: 1097716 HomoloGene: 68998 GeneCards: ARX
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for ARX
Genomic location for ARX
BandXp21.3Start25,003,694 bp[1]
End25,016,420 bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for ARX
Genomic location for ARX
BandX C3|X 41.05 cMStart92,330,051 bp[2]
End92,341,963 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • vastus lateralis muscle

  • germinal epithelium

  • endothelial cell

  • bronchial epithelial cell

  • Brodmann area 23

  • biceps brachii

  • cingulate gyrus

  • ganglionic eminence

  • middle temporal gyrus

  • tibialis anterior muscle
Top expressed in
  • medial ganglionic eminence

  • olfactory bulb

  • uterine tube

  • temporal muscle

  • nucleus accumbens

  • ovary

  • superior frontal gyrus

  • prefrontal cortex

  • temporal lobe

  • islet of Langerhans
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • DNA binding
  • sequence-specific DNA binding
  • chromatin binding
  • DNA-binding transcription repressor activity, RNA polymerase II-specific
  • DNA-binding transcription factor activity, RNA polymerase II-specific
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding
Cellular component
  • nucleus
Biological process
  • cell differentiation
  • regulation of transcription, DNA-templated
  • cerebral cortex tangential migration
  • lipid digestion
  • positive regulation of organ growth
  • neuron migration
  • negative regulation of transcription by RNA polymerase II
  • globus pallidus development
  • transcription, DNA-templated
  • nervous system development
  • axon guidance
  • multicellular organism development
  • positive regulation of gene expression
  • regulation of cell population proliferation
  • epithelial cell fate commitment
  • embryonic olfactory bulb interneuron precursor migration
  • cerebral cortex GABAergic interneuron migration
  • forebrain development
  • olfactory bulb development
  • cell proliferation in forebrain
  • neuron development
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

170302

11878

Ensembl

ENSG00000004848

ENSMUSG00000035277

UniProt

Q96QS3

O35085

RefSeq (mRNA)

NM_139058

NM_007492
NM_001305940

RefSeq (protein)

NP_620689

NP_001292869
NP_031518

Location (UCSC)Chr X: 25 – 25.02 MbChr X: 92.33 – 92.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.[5]

Function

This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is involved in CNS and pancreas development.[5]

Clinical significance

Mutation in the ARX gene are associated with X-linked intellectual disability, lissencephaly, as well as hypoglycemia (in mice).[5]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000004848 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035277 – 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. ^ a b c "Entrez Gene: ARX aristaless related homeobox".

Further reading

  • Mulley JC, Kerr B, Stevenson R, Lubs H (1992). "Nomenclature guidelines for X-linked mental retardation". Am. J. Med. Genet. 43 (1–2): 383–91. doi:10.1002/ajmg.1320430159. PMID 1605216.
  • Häne B, Schroer RJ, Arena JF, et al. (1997). "Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21". Clin. Genet. 50 (4): 176–83. doi:10.1111/j.1399-0004.1996.tb02622.x. PMID 9001795. S2CID 33109092.
  • Suri M (2005). "The phenotypic spectrum of ARX mutations". Developmental Medicine & Child Neurology. 47 (2): 133–7. doi:10.1017/S001216220500023X. PMID 15707237.
  • Partington MW, Mulley JC, Sutherland GR, et al. (1988). "X-linked mental retardation with dystonic movements of the hands". Am. J. Med. Genet. 30 (1–2): 251–62. doi:10.1002/ajmg.1320300127. PMID 3177452.
  • Schutz CK, Ives EJ, Chalifoux M, et al. (1996). "Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)". Am. J. Med. Genet. 64 (1): 89–96. doi:10.1002/(SICI)1096-8628(19960712)64:1<89::AID-AJMG16>3.0.CO;2-O. PMID 8826457.
  • Holinski-Feder E, Golla A, Rost I, et al. (1996). "Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)". Am. J. Med. Genet. 64 (1): 125–30. doi:10.1002/(SICI)1096-8628(19960712)64:1<125::AID-AJMG21>3.0.CO;2-O. PMID 8826462.
  • Claes S, Gu XX, Legius E, et al. (1996). "Linkage analysis in three families with nonspecific X-linked mental retardation". Am. J. Med. Genet. 64 (1): 137–46. doi:10.1002/(SICI)1096-8628(19960712)64:1<137::AID-AJMG24>3.0.CO;2-N. PMID 8826464.
  • Jemaa LB, des Portes V, Zemni R, et al. (2000). "Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54)". Am. J. Med. Genet. 85 (3): 276–82. doi:10.1002/(SICI)1096-8628(19990730)85:3<276::AID-AJMG18>3.0.CO;2-I. PMID 10398243.
  • Hamel BC, Smits AP, van den Helm B, et al. (2000). "Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis". Am. J. Med. Genet. 85 (3): 290–304. doi:10.1002/(SICI)1096-8628(19990730)85:3<290::AID-AJMG21>3.0.CO;2-H. PMID 10398246.
  • Blair HJ, Reed V, Gormally E, et al. (2000). "Positioning of five genes (CASK, ARX, SAT, IMAGE cDNAs 248928 and 253949) from the human X chromosome short arm with respect to evolutionary breakpoints on the mouse X chromosome". Mamm. Genome. 11 (8): 710–2. doi:10.1007/s003350010141. PMID 10920247. S2CID 675465.
  • Strømme P, Mangelsdorf ME, Shaw MA, et al. (2002). "Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy". Nat. Genet. 30 (4): 441–5. doi:10.1038/ng862. PMID 11889467. S2CID 12822090.
  • Bienvenu T, Poirier K, Friocourt G, et al. (2003). "ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation". Hum. Mol. Genet. 11 (8): 981–91. doi:10.1093/hmg/11.8.981. PMID 11971879.
  • Strømme P, Mangelsdorf ME, Scheffer IE, Gécz J (2002). "Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX". Brain Dev. 24 (5): 266–8. doi:10.1016/S0387-7604(02)00079-7. PMID 12142061. S2CID 32508324.
  • Scheffer IE, Wallace RH, Phillips FL, et al. (2002). "X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX". Neurology. 59 (3): 348–56. doi:10.1212/wnl.59.3.348. PMID 12177367. S2CID 46362550.
  • Ohira R, Zhang YH, Guo W, et al. (2003). "Human ARX gene: genomic characterization and expression". Mol. Genet. Metab. 77 (1–2): 179–88. doi:10.1016/S1096-7192(02)00126-9. PMID 12359145.
  • Turner G, Partington M, Kerr B, et al. (2003). "Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation". Am. J. Med. Genet. 112 (4): 405–11. doi:10.1002/ajmg.10714. PMID 12376946.
  • Frints SG, Froyen G, Marynen P, et al. (2003). "Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome". Am. J. Med. Genet. 112 (4): 427–8. doi:10.1002/ajmg.10628. PMID 12376949.
  • Kitamura K, Yanazawa M, Sugiyama N, et al. (2002). "Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans". Nat. Genet. 32 (3): 359–69. doi:10.1038/ng1009. PMID 12379852. S2CID 6666397.

External links

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

  • v
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  • e
(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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