ATRX_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
ATRX
, RAD54L, XH2
Protein names and data:
ATRX_HUMAN
, Transcriptional regulator ATRX; 3.6.4.12
, ATP-dependent helicase ATRX; X-linked helicase II; X-linked nuclear protein; XNP; Znf-HX
Lenght: 2492 a.a.
Mass: 282586 Da
fasta formatted sequence
Function:
Could be a global transcriptional regulator. Modifies gene expression by affecting chromatin. May be involved in brain development and facial morphogenesis.
Catalytic activity:
ATP + H(2)O = ADP + phosphate.
Disease:
( OMIM:
300032
300448
301040
309580
)
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]: A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions. Note=The disease is caused by mutations affecting the gene represented in this entry. Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSHF1 is a syndromic mental retardation. Clinical features include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects. Note=The disease is caused by mutations affecting the gene represented in this entry. Alpha-thalassemia myelodysplasia syndrome (ATMDS) [MIM:300448]: A disorder characterized by hypochromic, microcytic red blood cells, hemoglobin H detected in peripheral blood, and multilineage myelodysplasia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Nucleus. Note=Associated with pericentromeric heterochromatin during interphase and mitosis, probably by interacting with HP1.
Tissue specificity:
Ubiquitous.
Genetic variants
175 - 175
G -> E (in ATRX). VAR_012113
178 - 198
Missing (in ATRX). VAR_012114
179 - 179
N -> S (in ATRX). VAR_012115
190 - 190
P -> A (in ATRX). VAR_001226
190 - 190
P -> L (in ATRX). VAR_012116
190 - 190
P -> S (in ATRX). VAR_012117
192 - 192
L -> F (in ATRX). VAR_001227
194 - 194
V -> I (in ATRX). VAR_012118
200 - 200
C -> S (in ATRX). VAR_001228
219 - 219
Q -> P (in ATRX). VAR_012119
220 - 220
C -> R (in ATRX). VAR_001229
220 - 220
C -> Y (in MRXSHF1). VAR_032625
222 - 222
W -> S (in ATRX). VAR_001230
243 - 243
C -> F (in ATRX). VAR_001231
246 - 246
R -> C (in ATRX). VAR_001232
246 - 246
R -> L (in ATRX). VAR_010914
249 - 249
G -> C (in ATRX). VAR_012120
249 - 249
G -> D (in ATRX). VAR_001233
409 - 409
L -> S (in MRXSHF1). VAR_032626
545 - 545
Q -> E (in dbSNP:rs35738915). VAR_055939
35738915
596 - 596
S -> P (in dbSNP:rs1051678). VAR_016914
1051678
740 - 740
E -> G (in dbSNP:rs1051680). VAR_016915
1051680
929 - 929
Q -> E (in dbSNP:rs3088074). VAR_023438
3088074
1538 - 1538
V -> G (in ATRX; unknown pathological significance). VAR_012121
1552 - 1552
V -> F (in ATRX). VAR_012122
1609 - 1609
H -> R (in ATRX). VAR_001234
1614 - 1614
C -> R (in ATRX). VAR_001235
1621 - 1621
T -> M (in ATRX). VAR_016916
1645 - 1645
L -> S (in ATRX). VAR_012123
1650 - 1650
K -> N (in ATRX). VAR_001236
1713 - 1713
P -> S (in ATRX; without alpha- thalassemia). VAR_012124
1742 - 1742
R -> K (in ATRX; atypical; patients presents spastic paraplegia at birth). VAR_012125
1847 - 1847
Y -> C (in ATRX). VAR_012126
1860 - 1860
N -> S (rare polymorphism; dbSNP:rs45439799). VAR_001237
45439799
2035 - 2035
D -> V (in ATRX). VAR_001238
2050 - 2050
I -> T (in MRXSHF1; originally reported as Carpenter-Waziri syndrome). VAR_012127
2084 - 2084
Y -> H (in ATRX). VAR_001239
2131 - 2131
R -> Q (in MRXSHF1; originally reported as Juberg-Marsidi syndrome). VAR_001240
2163 - 2163
Y -> C (in ATRX). VAR_001241
2271 - 2271
R -> G (in MRXSHF1). VAR_032627
Database cross-references
UniProt:
P46100
Ensembl:
ENST00000373344
Ensembl:
ENST00000395603
MIM:
300032
MIM:
300448
MIM:
301040
MIM:
309580
neXtProt:
NX_P46100
Antibodypedia:
P46100
(may not find the protein thus also not any antibody)
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