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Aristaless related homeobox

From Wikipedia, the free encyclopedia
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;OMA:ARX - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for ARX
Genomic location for ARX
BandXp21.3Start25,003,694bp[1]
End25,016,420bp[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 cMStart92,330,051bp[2]
End92,341,963bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • left ovary

  • right ovary

  • ventricular zone

  • vastus lateralis muscle

  • germinal epithelium

  • endothelial cell

  • bronchial epithelial cell

  • Brodmann area 23

  • biceps brachii

  • cingulate gyrus
Top expressed in
  • Rostral migratory stream

  • medial ganglionic eminence

  • Gonadal ridge

  • ventricular zone

  • olfactory bulb

  • fallopian tube

  • temporal muscle

  • nucleus accumbens

  • efferent ductule

  • ovary
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
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 aprotein that in humans is encoded by theARXgene.[5]

Function

[edit]

This gene is ahomeobox-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

[edit]

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

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000004848Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000035277Ensembl, 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. ^abc"Entrez Gene: ARX aristaless related homeobox".

Further reading

[edit]

External links

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

(1) Basic domains
(1.1) Basicleucine 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
(3.1)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


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