• diferenciación celular • regulación de la transcripción, plantilla de ADN • migración tangencial de la corteza cerebral • digestión de lípidos • regulación positiva del crecimiento de órganos • migración de neuronas • regulación negativa de la transcripción por la ARN polimerasa II • desarrollo del globo pálido • transcripción, plantilla de ADN • sistema nervioso desarrollo • guía de axones • desarrollo de organismos multicelulares • regulación positiva de la expresión génica • regulación de la proliferación de poblaciones celulares • 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
Species
Human
Mouse
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 Mb
Chr X: 93.29 – 93.3 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.[5]
Contents
1 Function
2 Clinical significance
3 See also
4 References
5 Further reading
6 External links
Function[edit]
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[edit]
Mutation in the ARX gene are associated with X-linked intellectual disability, lissencephaly, as well as hypoglycemia (in mice).[5]
See also[edit]
homeobox
References[edit]
^ a b cGRCh38: Ensembl release 89: ENSG00000004848 - Ensembl, May 2017
^ a b cGRCm38: Ensembl release 89: ENSMUSG00000035277 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ a b c"Entrez Gene: ARX aristaless related homeobox".
Further reading[edit]
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.
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[edit]
aristaless+related+homeobox+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
Human ARX genome location and ARX gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
vteTranscription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
Activating transcription factor
AATF
1
2
3
4
5
6
7
AP-1
c-Fos
FOSB
FOSL1
FOSL2
JDP2
c-Jun
JUNB
JunD
BACH
1
2
BATF
BLZF1
C/EBP
α
β
γ
δ
ε
ζ
CREB
1
3
L1
CREM
DBP
DDIT3
GABPA
GCN4
HLF
MAF
B
F
G
K
NFE
2
L1
L2
L3
NFIL3
NRL
NRF
1
2
3
XBP1
(1.2) Basic helix-loop-helix (bHLH)
Group A
AS-C
ASCL1
ASCL2
ATOH1
HAND
1
2
MESP2
Myogenic regulatory factors
MyoD
Myogenin
MYF5
MYF6
NeuroD
1
2
Neurogenins
1
2
3
OLIG
1
2
Paraxis
TCF15
Scleraxis
SLC
LYL1
TAL
1
2
Twist
Group B
FIGLA
Myc
c-Myc
l-Myc
n-Myc
MXD4
TCF4
Group CbHLH-PAS
AhR
AHRR
ARNT
ARNTL
ARNTL2
CLOCK
HIF
1A
EPAS1
3A
NPAS
1
2
3
SIM
1
2
Group D
BHLH
2
3
9
Pho4
ID
1
2
3
4
Group E
HES
1
2
3
4
5
6
7
HEY
1
2
L
Group FbHLH-COE
EBF1
(1.3) bHLH-ZIP
AP-4
MAX
MXD1
MXD3
MITF
MNT
MLX
MLXIPL
MXI1
Myc
SREBP
1
2
USF1
(1.4) NF-1
NFI
A
B
C
X
SMAD
R-SMAD
1
2
3
5
9
I-SMAD
6
7
4)
(1.5) RF-X
RFX
1
2
3
4
5
6
ANK
(1.6) Basic helix-span-helix (bHSH)
AP-2
α
β
γ
δ
ε
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
Thyroid hormone
α
β
CAR
FXR
LXR
α
β
PPAR
α
β/δ
γ
PXR
RAR
α
β
γ
ROR
α
β
γ
Rev-ErbA
α
β
VDR
subfamily 2
COUP-TF
(I
II
Ear-2
HNF4
α
γ
PNR
RXR
α
β
γ
Testicular receptor
2
4
TLX
subfamily 3
Steroid hormone
Androgen
Estrogen
α
β
Glucocorticoid
Mineralocorticoid
Progesterone
Estrogen related
α
β
γ
subfamily 4
NUR
NGFIB
NOR1
NURR1
subfamily 5
LRH-1
SF1
subfamily 6
GCNF
subfamily 0
DAX1
SHP
(2.2) Other Cys4
GATA
1
2
3
4
5
6
MTA
1
2
3
TRPS1
(2.3) Cys2His2
General transcription factors
TFIIA
TFIIB
TFIID
TFIIE
1
2
TFIIF
1
2
TFIIH
1
2
4
2I
3A
3C1
3C2
ATBF1
BCL
6
11A
11B
CTCF
E4F1
EGR
1
2
3
4
ERV3
GFI1
GLI-Krüppel family
1
2
3
REST
S1
S2
YY1
HIC
1
2
HIVEP
1
2
3
IKZF
1
2
3
ILF
2
3
KLF
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
17
MTF1
MYT1
OSR1
PRDM9
SALL
1
2
3
4
SP
1
2
4
7
8
TSHZ3
WT1
Zbtb7
7A
7B
ZBTB
11
16
17
20
32
33
40
zinc finger
3
7
9
10
19
22
24
33B
34
35
41
43
44
51
74
143
146
148
165
202
217
219
238
239
259
267
268
281
295
300
318
330
346
350
365
366
384
423
451
452
471
593
638
644
649
655
804A
(2.4) Cys6
HIVEP1
(2.5) Alternating composition
AIRE
DIDO1
GRLF1
ING
1
2
4
JARID
1A
1B
1C
1D
2
JMJD1B
(2.6) WRKY
WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
AntennapediaANTP class
protoHOXHox-like
ParaHox
Gsx
1
2
Xlox
PDX1
Cdx
1
2
4
extended Hox: Evx1
Evx2
MEOX1
MEOX2
Homeobox
A1
A2
A3
A4
A5
A7
A9
A10
A11
A13
B1
B2
B3
B4
B5
B6
B7
B8
B9
B13
C4
C5
C6
C8
C9
C10
C11
C12
C13
D1
D3
D4
D8
D9
D10
D11
D12
D13
GBX1
GBX2
MNX1
metaHOXNK-like
BARHL1
BARHL2
BARX1
BARX2
BSX
DBX
1
2
DLX
1
2
3
4
5
6
EMX
1
2
EN
1
2
HHEX
HLX
LBX1
LBX2
MSX
1
2
NANOG
NKX
2-1
2-2
2-3
2-5
3-1
3-2
HMX1
HMX2
HMX3
6-1
6-2
NATO
TLX1
TLX2
TLX3
VAX1
VAX2
other
ARX
CRX
CUTL1
FHL
1
2
3
HESX1
HOPX
LMX
1A
1B
NOBOX
TALE
IRX
1
2
3
4
5
6
MKX
MEIS
1
2
PBX
1
2
3
PKNOX
1
2
SIX
1
2
3
4
5
PHF
1
3
6
8
10
16
17
20
21A
POU domain
PIT-1
BRN-3: A
B
C
Octamer transcription factor: 1
2
3/4
6
7
11
SATB2
ZEB
1
2
(3.2) Paired box
PAX
1
2
3
4
5
6
7
8
9
PRRX
1
2
PROP1
PHOX
2A
2B
RAX
SHOX
SHOX2
VSX1
VSX2
Bicoid
GSC
BICD2
OTX
1
2
PITX
1
2
3
(3.3) Fork head / winged helix
E2F
1
2
3
4
5
FOX proteins
A1
A2
A3
C1
C2
D3
D4
E1
E3
F1
G1
H1
I1
J1
J2
K1
K2
L2
M1
N1
N3
O1
O3
O4
P1
P2
P3
P4
(3.4) Heat shock factors
HSF
1
2
4
(3.5) Tryptophan clusters
ELF
2
4
5
EGF
ELK
1
3
4
ERF
ETS
1
2
ERG
SPIB
ETV
1
4
5
6
FLI1
Interferon regulatory factors
1
2
3
4
5
6
7
8
MYB
MYBL2
(3.6) TEA domain
transcriptional enhancer factor
1
2
3
4
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
NF-κB
NFKB1
NFKB2
REL
RELA
RELB
NFAT
C1
C2
C3
C4
5
(4.2) STAT
STAT
1
2
3
4
5
6
(4.3) p53-like
p53 p63 p73 family
p53
TP63
p73
TBX
1
2
3
5
19
21
22
TBR1
TBR2
TFT
MYRF
(4.4) MADS box
Mef2
A
B
C
D
SRF
(4.6) TATA-binding proteins
TBP
TBPL1
(4.7) High-mobility group
BBX
HMGB
1
2
3
4
HMGN
1
2
3
4
HNF
1A
1B
SOX
1
2
3
4
5
6
8
9
10
11
12
13
14
15
18
21
SRY
SSRP1
TCF/LEF
TCF
1
3
4
LEF1
TOX
1
2
3
4
(4.9) Grainyhead
TFCP2
(4.10) Cold-shock domain
CSDA
YBX1
(4.11) Runt
CBF
CBFA2T2
CBFA2T3
RUNX1
RUNX2
RUNX3
RUNX1T1
(0) Other transcription factors
(0.2) HMGI(Y)
HMGA
1
2
HBP1
(0.3) Pocket domain
Rb
RBL1
RBL2
(0.5) AP-2/EREBP-related factors
Apetala 2
EREBP
B3
(0.6) Miscellaneous
ARID
1A
1B
2
3A
3B
4A
CAP
IFI
16
35
MLL
2
3
T1
MNDA
NFY
A
B
C
Rho/Sigma
see also transcription factor/coregulator deficiencies
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