Entity Details

Primary name ATRX_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP46100
EntryNameATRX_HUMAN
FullNameTranscriptional regulator ATRX
TaxID9606
Evidenceevidence at protein level
Length2492
SequenceStatuscomplete
DateCreated1995-11-01
DateModified2021-06-02

Ontological Relatives

GenesATRX

GO terms

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GOName
GO:0000212 meiotic spindle organization
GO:0000228 nuclear chromosome
GO:0000779 condensed chromosome, centromeric region
GO:0000781 chromosome, telomeric region
GO:0000792 heterochromatin
GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0003682 chromatin binding
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005721 pericentric heterochromatin
GO:0006281 DNA repair
GO:0006306 DNA methylation
GO:0006334 nucleosome assembly
GO:0006336 DNA replication-independent nucleosome assembly
GO:0006338 chromatin remodeling
GO:0006355 regulation of transcription, DNA-templated
GO:0007283 spermatogenesis
GO:0010571 positive regulation of nuclear cell cycle DNA replication
GO:0015616 DNA translocase activity
GO:0016604 nuclear body
GO:0016605 PML body
GO:0030330 DNA damage response, signal transduction by p53 class mediator
GO:0030900 forebrain development
GO:0031297 replication fork processing
GO:0032206 positive regulation of telomere maintenance
GO:0035064 methylated histone binding
GO:0035128 post-embryonic forelimb morphogenesis
GO:0035264 multicellular organism growth
GO:0042393 histone binding
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0048239 negative regulation of DNA recombination at telomere
GO:0060009 Sertoli cell development
GO:0070087 chromo shadow domain binding
GO:0070192 chromosome organization involved in meiotic cell cycle
GO:0070198 protein localization to chromosome, telomeric region
GO:0070615 nucleosome-dependent ATPase activity
GO:0072520 seminiferous tubule development
GO:0072711 cellular response to hydroxyurea
GO:0099115 chromosome, subtelomeric region
GO:1900051 positive regulation of histone exchange
GO:1900112 regulation of histone H3-K9 trimethylation
GO:1901581 negative regulation of telomeric RNA transcription from RNA pol II promoter
GO:1901582 positive regulation of telomeric RNA transcription from RNA pol II promoter
GO:1904908 negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric

Subcellular Location

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Subcellular Location
Chromosome
Nucleus

Domains

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DomainNameCategoryType
IPR000330 SNF2, N-terminalDomainDomain
IPR001650 Helicase, C-terminalDomainDomain
IPR011011 Zinc finger, FYVE/PHD-typeFamilyHomologous superfamily
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR014001 Helicase superfamily 1/2, ATP-binding domainDomainDomain
IPR025766 ADD domainDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR038718 SNF2-like, N-terminal domain superfamilyFamilyHomologous superfamily
IPR041430 ATRX, ADD domainDomainDomain

Diseases

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Disease IDSourceNameDescription
309580 OMIMMental retardation-hypotonic facies syndrome, X-linked, 1 (MRXHF1)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. The disease is caused by variants affecting the gene represented in this entry.
301040 OMIMAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions. The disease is caused by variants affecting the gene represented in this entry.
300448 OMIMAlpha-thalassemia myelodysplasia syndrome (ATMDS)A disorder characterized by hypochromic, microcytic red blood cells, hemoglobin H detected in peripheral blood, and multilineage myelodysplasia. The disease is caused by variants affecting the gene represented in this entry.

Interactions

63 interactions

InteractorPartnerSourcesPublicationsLink
ATRX_HUMANDAXX_HUMANBioGRID, IntAct, MINT, UniProt12953102 14990586 15252119 20147399 22102817 23135716 23222847 23329831 24651726 24981860 25416818 26496610 27029610 27872097 28875283 28875424 29084956 29937341 31631027 details
ATRX_HUMANNEK1_HUMANBioGRID, HPRD, IntAct14690447 details
ATRX_HUMANZ512B_HUMANBioGRID, MINT15231748 details
ATRX_HUMANCCSE2_HUMANBioGRID, HPRD, IntAct16169070 details
ATRX_HUMANCE126_HUMANBioGRID, HPRD, IntAct16169070 details
ATRX_HUMANLC7L2_HUMANBioGRID, HPRD, IntAct16169070 details
ATRX_HUMANPTN_HUMANBioGRID, HPRD, IntAct16169070 details
ATRX_HUMANPTN4_HUMANBioGRID, HPRD, IntAct16169070 details
ATRX_HUMANH33_HUMANBioGRID, IntAct20110566 20211137 20504901 20651253 24530302 24981860 25538301 29937341 details
ATRX_HUMANCBX5_HUMANBioGRID, UniProt10699177 15882967 20110566 details
ATRX_HUMANEZH2_HUMANBioGRID, HPRD, IntAct25417162 27634302 9499421 details
ATRX_HUMANH31_HUMANBioGRID, IntAct21421568 29568061 34079125 details
ATRX_HUMANRAD51_HUMANBioGRID, HPRD10851248 12205100 12750285 15466868 16990250 19671661 23801766 28976962 32457312 9321665 details
ATRX_HUMANHDAC4_HUMANBioGRID, HPRD15964851 details
ATRX_HUMANWRN_HUMANBioGRID17118963 details
ATRX_HUMANCALM1_HUMANBioGRID15840729 details
ATRX_HUMANCALM2_HUMANBioGRID15840729 details
ATRX_HUMANCALM3_HUMANBioGRID15840729 details
ATRX_HUMANSVIL_HUMANBioGRID, HPRD20309963 details
ATRX_HUMANZBED1_HUMANBioGRID22021382 details
ATRX_HUMANH32_HUMANBioGRID21666677 21666679 details
ATRX_HUMANBLM_HUMANBioGRID19671661 details
ATRX_HUMANP53_HUMANBioGRID12750285 23329831 28875283 details
ATRX_HUMANNSD1_HUMANBioGRID24412544 details
ATRX_HUMANSUMO2_HUMANBioGRID19394292 32786267 details
ATRX_HUMANAURKA_HUMANBioGRID28218735 details
ATRX_HUMANRASF1_HUMANBioGRID28875283 details
ATRX_HUMANMDM2_HUMANBioGRID28875283 details
ATRX_HUMANCBP_HUMANBioGRID28680062 details
ATRX_HUMANBRD9_HUMANBioGRID32457312 details
ATRX_HUMANNBN_HUMANBioGRID, UniProt23329831 24651726 27171262 details
ATRX_HUMANRAD50_HUMANBioGRID, UniProt23329831 24651726 details
ATRX_HUMANMRE11_HUMANBioGRID, UniProt23329831 24651726 27171262 details
ATRX_HUMANPCNA_HUMANBioGRID, UniProt24651726 29937341 details
ATRX_HUMANMECP2_HUMANDIP17296936 details
ATRX_HUMANSMC3_HUMANUniProt20159591 details
ATRX_HUMANSMC1A_HUMANBioGRID, UniProt20159591 details
ATRX_HUMANH2AY_HUMANBioGRID, IntAct25417162 26373281 details
ATRX_HUMANDPOD1_HUMANBioGRID, IntAct27173435 unassigned1312 details
ATRX_HUMANDDX20_HUMANBioGRID, IntAct27173435 unassigned1312 details
ATRX_HUMANE2AK1_HUMANBioGRID, IntAct27173435 unassigned1312 details
ATRX_HUMANAP3B1_HUMANBioGRID, IntAct27173435 unassigned1312 details
ATRX_HUMANMFAP1_HUMANBioGRID, IntAct27173435 unassigned1312 details
ATRX_HUMANNAF1_HUMANBioGRID, IntAct27173435 unassigned1312 details
ATRX_HUMANEAF1_HUMANBioGRID, IntAct27173435 unassigned1312 details
ATRX_HUMANRBM14_HUMANBioGRID, IntAct27173435 unassigned1312 details
ATRX_HUMANFMR1_HUMANIntAct31413325 details
ATRX_HUMANTNIK_HUMANIntAct31413325 details
ATRX_HUMANDISC1_HUMANIntAct31413325 details
ATRX_HUMANPKCB1_HUMANMINT21653829 details
ATRX_HUMANPML_HUMANBioGRID23222847 details
ATRX_HUMANZN274_HUMANBioGRID27029610 details
ATRX_HUMANTIF1B_HUMANBioGRID27029610 details
ATRX_HUMANSETB1_HUMANBioGRID27029610 details
ATRX_HUMANBMI1_HUMANBioGRID26468281 details
ATRX_HUMANH2AX_HUMANBioGRID28190324 details
ATRX_HUMANMEN1_HUMANBioGRID27872097 details
ATRX_HUMANAKT1_HUMANBioGRID24462114 details
ATRX_HUMANRFC1_HUMANBioGRID29937341 details
ATRX_HUMANFACD2_HUMANBioGRID31180492 details
ATRX_HUMANWWOX_HUMANBioGRID31180492 details
ATRX_HUMANHDAC1_HUMANHPRD14645126 details
ATRX_HUMANATN1_HUMANHPRD14645126 details