Gene: ENSG00000085224 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000085224
Transcript Identifier
ENST00000373344
Gene Type
Coding gene
Location
X : 77508351-77786001 : negative

Family Information

Homologous gene family
HOM02SEM000010
(859 genes in 26 species)
specific family
Orthologous gene family
ORTHO02SEM000020
(548 genes in 26 species)
specific family

Descriptions

gene_descr
alpha thalassemia/mental retardation syndrome X- linked

Identifiers

Type Value
pidENSP00000362441
HGNC886
UniprotP46100
UniprotA4LAA3
RefSeq_mRNANM_000489.4
EMBLEF467914

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:1904908
IMP
Genome Projectnegative regulation of maintenance of mitotic sister chromatid cohesion, telomeric
GO:1904908
IMP
Gene Ontologynegative regulation of maintenance of mitotic sister chromatid cohesion, telomeric1
GO:1901582
IMP
Genome Projectpositive regulation of telomeric RNA transcription from RNA pol II promoter
GO:1901582
IMP
Gene Ontologypositive regulation of telomeric RNA transcription from RNA pol II promoter2
GO:1901581
ISS
Genome Projectnegative regulation of telomeric RNA transcription from RNA pol II promoter
GO:1901581
ISS
Gene Ontologynegative regulation of telomeric RNA transcription from RNA pol II promoter
GO:1900112
IMP
Genome Projectregulation of histone H3-K9 trimethylation
GO:1900112
IMP
Gene Ontologyregulation of histone H3-K9 trimethylation3
GO:0072711
ISS
Genome Projectcellular response to hydroxyurea
GO:0072711
ISS
Gene Ontologycellular response to hydroxyurea
GO:0072520
IEA
Genome Projectseminiferous tubule development
GO:0070198
ISS
Genome Projectprotein localization to chromosome, telomeric region
GO:0070198
ISS
Gene Ontologyprotein localization to chromosome, telomeric region
GO:0070192
IEA
Genome Projectchromosome organization involved in meiotic cell cycle
GO:0060009
IEA
Genome ProjectSertoli cell development
GO:0045944
IMP
Genome Projectpositive regulation of transcription by RNA polymerase II
GO:0045944
IMP
Gene Ontologypositive regulation of transcription by RNA polymerase II4
GO:0035264
IEA
Genome Projectmulticellular organism growth
GO:0035128
IEA
Genome Projectpost-embryonic forelimb morphogenesis
GO:0032508
IEA
Genome ProjectDNA duplex unwinding
GO:0032206
ISS
Genome Projectpositive regulation of telomere maintenance
GO:0032206
ISS
Gene Ontologypositive regulation of telomere maintenance
GO:0031297
ISS
Genome Projectreplication fork processing
GO:0031297
ISS
Gene Ontologyreplication fork processing
GO:0030900
IEA
Genome Projectforebrain development
GO:0030330
ISS
Genome ProjectDNA damage response, signal transduction by p53 class mediator
GO:0030330
ISS
Gene OntologyDNA damage response, signal transduction by p53 class mediator
GO:0016569
IEA
Genome Projectcovalent chromatin modification
GO:0010571
ISS
Genome Projectpositive regulation of nuclear cell cycle DNA replication
GO:0010571
ISS
Gene Ontologypositive regulation of nuclear cell cycle DNA replication
GO:0007283
IEA
Genome Projectspermatogenesis
GO:0006355
TAS
Genome Projectregulation of transcription, DNA-templated
GO:0006355
TAS
Gene Ontologyregulation of transcription, DNA-templated5
GO:0006351
IEA
Genome Projecttranscription, DNA-templated
GO:0006338
IDA
Genome Projectchromatin remodeling
GO:0006338
IDA
Gene Ontologychromatin remodeling6
GO:0006336
IMP
Genome ProjectDNA replication-independent nucleosome assembly
GO:0006336
IMP
Gene OntologyDNA replication-independent nucleosome assembly4
GO:0006334
IDA
Genome Projectnucleosome assembly
GO:0006334
IDA
Gene Ontologynucleosome assembly6
GO:0006310
TAS
Genome ProjectDNA recombination
GO:0006310
TAS
Gene OntologyDNA recombination5
GO:0006306
TAS
Genome ProjectDNA methylation
GO:0006306
TAS
Gene OntologyDNA methylation7
GO:0006281
IEA
Genome ProjectDNA repair
GO:0000212
IEA
Genome Projectmeiotic spindle organization
GO:0012501
IEA
PLAZA Integrative Orthologyprogrammed cell death FBgn0039338
GO:0010646
IEA
PLAZA Integrative Orthologyregulation of cell communication FBgn0039338
GO:0001932
IEA
PLAZA Integrative Orthologyregulation of protein phosphorylation FBgn0039338
GO:0051674
IEA
PLAZA Integrative Orthologylocalization of cell FBgn0039338
GO:0048870
IEA
PLAZA Integrative Orthologycell motility FBgn0039338
GO:0046328
IEA
PLAZA Integrative Orthologyregulation of JNK cascade FBgn0039338
GO:0040029
IEA
PLAZA Integrative Orthologyregulation of gene expression, epigenetic FBgn0039338
GO:0042325
IEA
PLAZA Integrative Orthologyregulation of phosphorylation FBgn0039338
GO:0006796
IEA
PLAZA Integrative Orthologyphosphate-containing compound metabolic process FBgn0039338
GO:0006793
IEA
PLAZA Integrative Orthologyphosphorus metabolic process FBgn0039338
GO:0048666
IEA
PLAZA Integrative Orthologyneuron development FBgn0039338
GO:0048667
IEA
PLAZA Integrative Orthologycell morphogenesis involved in neuron differentiation FBgn0039338
GO:1900049
IEA
PLAZA Integrative Orthologyregulation of histone exchange AT1G08600
GO:0048229
IEA
PLAZA Integrative Orthologygametophyte development AT1G08600
GO:0031098
IEA
PLAZA Integrative Orthologystress-activated protein kinase signaling cascade FBgn0039338
GO:0031175
IEA
PLAZA Integrative Orthologyneuron projection development FBgn0039338
GO:0040025
IEA
PLAZA Integrative Orthologyvulval development WBGene00006961
GO:0016458
IEA
PLAZA Integrative Orthologygene silencing FBgn0039338
GO:0016477
IEA
PLAZA Integrative Orthologycell migration FBgn0039338
GO:0070868
IEA
PLAZA Integrative Orthologyheterochromatin organization involved in chromatin silencing FBgn0039338
GO:0097549
IEA
PLAZA Integrative Orthologychromatin organization involved in negative regulation of transcription FBgn0039338
GO:0016310
IEA
PLAZA Integrative Orthologyphosphorylation FBgn0039338
GO:0034401
IEA
PLAZA Integrative Orthologychromatin organization involved in regulation of transcription FBgn0039338
GO:0070302
IEA
PLAZA Integrative Orthologyregulation of stress-activated protein kinase signaling cascade FBgn0039338
GO:0019220
IEA
PLAZA Integrative Orthologyregulation of phosphate metabolic process FBgn0039338
GO:0043570
IEA
PLAZA Integrative Orthologymaintenance of DNA repeat elements AT1G08600
GO:0032989
IEA
PLAZA Integrative Orthologycellular component morphogenesis FBgn0039338
GO:0009605
IEA
PLAZA Integrative Orthologyresponse to external stimulus FBgn0039338
GO:0048583
IEA
PLAZA Integrative Orthologyregulation of response to stimulus FBgn0039338
GO:0000165
IEA
PLAZA Integrative OrthologyMAPK cascade FBgn0039338
GO:0006935
IEA
PLAZA Integrative Orthologychemotaxis FBgn0039338
GO:0043007
IEA
PLAZA Integrative Orthologymaintenance of rDNA AT1G08600
GO:0048858
IEA
PLAZA Integrative Orthologycell projection morphogenesis FBgn0039338
GO:0006468
IEA
PLAZA Integrative Orthologyprotein phosphorylation FBgn0039338
GO:0006342
IEA
PLAZA Integrative Orthologychromatin silencing FBgn0039338
GO:0048699
IEA
PLAZA Integrative Orthologygeneration of neurons FBgn0039338
GO:0097193
IEA
PLAZA Integrative Orthologyintrinsic apoptotic signaling pathway FBgn0039338
GO:0097190
IEA
PLAZA Integrative Orthologyapoptotic signaling pathway FBgn0039338
GO:0048812
IEA
PLAZA Integrative Orthologyneuron projection morphogenesis FBgn0039338
GO:0043486
IEA
PLAZA Integrative Orthologyhistone exchange AT1G08600
GO:0032990
IEA
PLAZA Integrative Orthologycell part morphogenesis FBgn0039338
GO:0040011
IEA
PLAZA Integrative Orthologylocomotion FBgn0039338
GO:1902531
IEA
PLAZA Integrative Orthologyregulation of intracellular signal transduction FBgn0039338
GO:0043408
IEA
PLAZA Integrative Orthologyregulation of MAPK cascade FBgn0039338
GO:0070828
IEA
PLAZA Integrative Orthologyheterochromatin organization FBgn0039338
GO:0032872
IEA
PLAZA Integrative Orthologyregulation of stress-activated MAPK cascade FBgn0039338
GO:0051174
IEA
PLAZA Integrative Orthologyregulation of phosphorus metabolic process FBgn0039338
GO:0043044
IEA
PLAZA Integrative OrthologyATP-dependent chromatin remodeling AT1G08600
GO:0006928
IEA
PLAZA Integrative Orthologymovement of cell or subcellular component FBgn0039338
GO:0002009
IEA
PLAZA Integrative Orthologymorphogenesis of an epithelium WBGene00006961
GO:0023051
IEA
PLAZA Integrative Orthologyregulation of signaling FBgn0039338
GO:0009966
IEA
PLAZA Integrative Orthologyregulation of signal transduction FBgn0039338
GO:0048569
IEA
PLAZA Integrative Orthologypost-embryonic animal organ development WBGene00006961
GO:0000902
IEA
PLAZA Integrative Orthologycell morphogenesis FBgn0039338
GO:0030182
IEA
PLAZA Integrative Orthologyneuron differentiation FBgn0039338
GO:0000904
IEA
PLAZA Integrative Orthologycell morphogenesis involved in differentiation FBgn0039338
GO:0048729
IEA
PLAZA Integrative Orthologytissue morphogenesis WBGene00006961
GO:0048806
IEA
PLAZA Integrative Orthologygenitalia development WBGene00006961
GO:0045814
IEA
PLAZA Integrative Orthologynegative regulation of gene expression, epigenetic FBgn0039338
GO:0061564
IEA
PLAZA Integrative Orthologyaxon development FBgn0039338
GO:0051403
IEA
PLAZA Integrative Orthologystress-activated MAPK cascade FBgn0039338
GO:0006915
IEA
PLAZA Integrative Orthologyapoptotic process FBgn0039338
GO:0007409
IEA
PLAZA Integrative Orthologyaxonogenesis FBgn0039338
GO:0042063
IEA
PLAZA Integrative Orthologygliogenesis FBgn0039338
GO:0002119
IEA
PLAZA Integrative Orthologynematode larval development WBGene00006961
GO:0008219
IEA
PLAZA Integrative Orthologycell death FBgn0039338
GO:0097485
IEA
PLAZA Integrative Orthologyneuron projection guidance FBgn0039338
GO:0008347
IEA
PLAZA Integrative Orthologyglial cell migration FBgn0039338
GO:0023014
IEA
PLAZA Integrative Orthologysignal transduction by protein phosphorylation FBgn0039338
GO:0002164
IEA
PLAZA Integrative Orthologylarval development WBGene00006961
GO:0022008
IEA
PLAZA Integrative Orthologyneurogenesis FBgn0039338
GO:0007254
IEA
PLAZA Integrative OrthologyJNK cascade FBgn0039338
GO:0080135
IEA
PLAZA Integrative Orthologyregulation of cellular response to stress FBgn0039338
GO:0007411
IEA
PLAZA Integrative Orthologyaxon guidance FBgn0039338
GO:0009555
IEA
PLAZA Integrative Orthologypollen development AT1G08600
GO:0080134
IEA
PLAZA Integrative Orthologyregulation of response to stress FBgn0039338
GO:0042330
IEA
PLAZA Integrative Orthologytaxis FBgn0039338
GO:0030030
IEA
PLAZA Integrative Orthologycell projection organization FBgn0039338
GO:0009792
IEA
PLAZA Integrative Orthologyembryo development ending in birth or egg hatching WBGene00006961
GO:0120039
IEA
PLAZA Integrative Orthologyplasma membrane bounded cell projection morphogenesis FBgn0039338
GO:0040035
IEA
PLAZA Integrative Orthologyhermaphrodite genitalia development WBGene00006961
GO:0120036
IEA
PLAZA Integrative Orthologyplasma membrane bounded cell projection organization FBgn0039338
GO:0009790
IEA
PLAZA Integrative Orthologyembryo development WBGene00006961

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0070087
IPI
Genome Projectchromo shadow domain binding
GO:0070087
IPI
Gene Ontologychromo shadow domain binding8
GO:0046872
IEA
Genome Projectmetal ion binding
GO:0042393
IDA
Genome Projecthistone binding
GO:0042393
IDA
Gene Ontologyhistone binding4 9
GO:0035064
IDA
Genome Projectmethylated histone binding
GO:0035064
IDA
Gene Ontologymethylated histone binding10
GO:0015616
IDA
Genome ProjectDNA translocase activity
GO:0015616
IDA
Gene OntologyDNA translocase activity11
GO:0005524
IEA
Genome ProjectATP binding
GO:0005515
IPI
Genome Projectprotein binding
GO:0005515
IPI
Gene Ontologyprotein binding1 3 4 11 12 13 14 15 16 17
GO:0004386
TAS
Genome Projecthelicase activity
GO:0004386
TAS
Gene Ontologyhelicase activity18
GO:0003682
IDA
Genome Projectchromatin binding
GO:0003682
IDA
Gene Ontologychromatin binding3
GO:0003678
TAS
Genome ProjectDNA helicase activity
GO:0003678
TAS
Gene OntologyDNA helicase activity5
GO:0003677
IEA
Genome ProjectDNA binding
GO:0000981
ISA
Gene OntologyDNA-binding transcription factor activity, RNA polymerase II-specific

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0000784
ISS
Genome Projectnuclear chromosome, telomeric region
GO:0000784
ISS
Gene Ontologynuclear chromosome, telomeric region
GO:1990707
IDA
Genome Projectnuclear subtelomeric heterochromatin
GO:1990707
IDA
Gene Ontologynuclear subtelomeric heterochromatin2
GO:0070603
IDA
Genome ProjectSWI/SNF superfamily-type complex
GO:0031933
ISS
Genome Projecttelomeric heterochromatin
GO:0031933
ISS
Gene Ontologytelomeric heterochromatin
GO:0031618
IEA
Genome Projectnuclear pericentric heterochromatin
GO:0016605
ISS
Genome ProjectPML body
GO:0016605
ISS
Gene OntologyPML body
GO:0016604
IDA
Genome Projectnuclear body
GO:0016604
IDA
Gene Ontologynuclear body
GO:0005721
ISS
Genome Projectpericentric heterochromatin
GO:0005721
ISS
Gene Ontologypericentric heterochromatin
GO:0005720
TAS
Genome Projectnuclear heterochromatin
GO:0005720
TAS
Gene Ontologynuclear heterochromatin19
GO:0005654
IDA
Genome Projectnucleoplasm
GO:0005654
IDA
Gene Ontologynucleoplasm
GO:0005634
TAS
Genome Projectnucleus
GO:0005634
TAS
Gene Ontologynucleus18
GO:0000780
IEA
Genome Projectcondensed nuclear chromosome, centromeric region
GO:0010369
IEA
PLAZA Integrative Orthologychromocenter FBgn0039338
GO:0005722
IEA
PLAZA Integrative Orthologybeta-heterochromatin FBgn0039338
GO:0001674
IEA
PLAZA Integrative Orthologyfemale germ cell nucleus FBgn0039338
GO:0042585
IEA
PLAZA Integrative Orthologygerminal vesicle FBgn0039338
GO:0043073
IEA
PLAZA Integrative Orthologygerm cell nucleus FBgn0039338
GO:0005700
IEA
PLAZA Integrative Orthologypolytene chromosome FBgn0039338
GO:0005701
IEA
PLAZA Integrative Orthologypolytene chromosome chromocenter FBgn0039338

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
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InterPro Description
IPR000330SNF2-related, N-terminal domain
IPR001650Helicase, C-terminal
IPR011011Zinc finger, FYVE/PHD-type
IPR013083Zinc finger, RING/FYVE/PHD-type
IPR014001Helicase superfamily 1/2, ATP-binding domain
IPR025766ADD domain
IPR027417P-loop containing nucleoside triphosphate hydrolase

No MapMan annotations defined for this gene.
KeggID Description
K10779ATRX; transcriptional regulator ATRX [EC:3.6.4.12]
No chloroplast target sequence found.