Seroatlas · Human Serome Atlas

ATRX

Transcriptional regulator ATRX

Also known as: ATRX_HUMAN, JMS, MRX52, RAD54, XH2, XNP

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P46100
Gene: ATRX
Ensembl: ENSG00000085224
Chromosome: X
Canonical length: 2492 aa
Protein class: Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transcription factors
Subcellular location: Nuclear bodies

OverviewNCBI Gene

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

2492 residues, UniProt reviewed canonical sequence.

>P46100|ATRX
     1  MTAEPMSESK LNTLVQKLHD FLAHSSEESE ETSSPPRLAM NQNTDKISGS GSNSDMMENS
    61  KEEGTSSSEK SKSSGSSRSK RKPSIVTKYV ESDDEKPLDD ETVNEDASNE NSENDITMQS
   121  LPKGTVIVQP EPVLNEDKDD FKGPEFRSRS KMKTENLKKR GEDGLHGIVS CTACGQQVNH
   181  FQKDSIYRHP SLQVLICKNC FKYYMSDDIS RDSDGMDEQC RWCAEGGNLI CCDFCHNAFC
   241  KKCILRNLGR KELSTIMDEN NQWYCYICHP EPLLDLVTAC NSVFENLEQL LQQNKKKIKV
   301  DSEKSNKVYE HTSRFSPKKT SSNCNGEEKK LDDSCSGSVT YSYSALIVPK EMIKKAKKLI
   361  ETTANMNSSY VKFLKQATDN SEISSATKLR QLKAFKSVLA DIKKAHLALE EDLNSEFRAM
   421  DAVNKEKNTK EHKVIDAKFE TKARKGEKPC ALEKKDISKS EAKLSRKQVD SEHMHQNVPT
   481  EEQRTNKSTG GEHKKSDRKE EPQYEPANTS EDLDMDIVSV PSSVPEDIFE NLETAMEVQS
   541  SVDHQGDGSS GTEQEVESSS VKLNISSKDN RGGIKSKTTA KVTKELYVKL TPVSLSNSPI
   601  KGADCQEVPQ DKDGYKSCGL NPKLEKCGLG QENSDNEHLV ENEVSLLLEE SDLRRSPRVK
   661  TTPLRRPTET NPVTSNSDEE CNETVKEKQK LSVPVRKKDK RNSSDSAIDN PKPNKLPKSK
   721  QSETVDQNSD SDEMLAILKE VSRMSHSSSS DTDINEIHTN HKTLYDLKTQ AGKDDKGKRK
   781  RKSSTSGSDF DTKKGKSAKS SIISKKKRQT QSESSNYDSE LEKEIKSMSK IGAARTTKKR
   841  IPNTKDFDSS EDEKHSKKGM DNQGHKNLKT SQEGSSDDAE RKQERETFSS AEGTVDKDTT
   901  IMELRDRLPK KQQASASTDG VDKLSGKEES FTSLEVRKVA ETKEKSKHLK TKTCKKVQDG
   961  LSDIAEKFLK KDQSDETSED DKKQSKKGTE EKKKPSDFKK KVIKMEQQYE SSSDGTEKLP
  1021  EREEICHFPK GIKQIKNGTT DGEKKSKKIR DKTSKKKDEL SDYAEKSTGK GDSCDSSEDK
  1081  KSKNGAYGRE KKRCKLLGKS SRKRQDCSSS DTEKYSMKED GCNSSDKRLK RIELRERRNL
  1141  SSKRNTKEIQ SGSSSSDAEE SSEDNKKKKQ RTSSKKKAVI VKEKKRNSLR TSTKRKQADI
  1201  TSSSSSDIED DDQNSIGEGS SDEQKIKPVT ENLVLSSHTG FCQSSGDEAL SKSVPVTVDD
  1261  DDDDNDPENR IAKKMLLEEI KANLSSDEDG SSDDEPEEGK KRTGKQNEEN PGDEEAKNQV
  1321  NSESDSDSEE SKKPRYRHRL LRHKLTVSDG ESGEEKKTKP KEHKEVKGRN RRKVSSEDSE
  1381  DSDFQESGVS EEVSESEDEQ RPRTRSAKKA ELEENQRSYK QKKKRRRIKV QEDSSSENKS
  1441  NSEEEEEEKE EEEEEEEEEE EEEEDENDDS KSPGKGRKKI RKILKDDKLR TETQNALKEE
  1501  EERRKRIAER EREREKLREV IEIEDASPTK CPITTKLVLD EDEETKEPLV QVHRNMVIKL
  1561  KPHQVDGVQF MWDCCCESVK KTKKSPGSGC ILAHCMGLGK TLQVVSFLHT VLLCDKLDFS
  1621  TALVVCPLNT ALNWMNEFEK WQEGLKDDEK LEVSELATVK RPQERSYMLQ RWQEDGGVMI
  1681  IGYEMYRNLA QGRNVKSRKL KEIFNKALVD PGPDFVVCDE GHILKNEASA VSKAMNSIRS
  1741  RRRIILTGTP LQNNLIEYHC MVNFIKENLL GSIKEFRNRF INPIQNGQCA DSTMVDVRVM
  1801  KKRAHILYEM LAGCVQRKDY TALTKFLPPK HEYVLAVRMT SIQCKLYQYY LDHLTGVGNN
  1861  SEGGRGKAGA KLFQDFQMLS RIWTHPWCLQ LDYISKENKG YFDEDSMDEF IASDSDETSM
  1921  SLSSDDYTKK KKKGKKGKKD SSSSGSGSDN DVEVIKVWNS RSRGGGEGNV DETGNNPSVS
  1981  LKLEESKATS SSNPSSPAPD WYKDFVTDAD AEVLEHSGKM VLLFEILRMA EEIGDKVLVF
  2041  SQSLISLDLI EDFLELASRE KTEDKDKPLI YKGEGKWLRN IDYYRLDGST TAQSRKKWAE
  2101  EFNDETNVRG RLFIISTKAG SLGINLVAAN RVIIFDASWN PSYDIQSIFR VYRFGQTKPV
  2161  YVYRFLAQGT MEDKIYDRQV TKQSLSFRVV DQQQVERHFT MNELTELYTF EPDLLDDPNS
  2221  EKKKKRDTPM LPKDTILAEL LQIHKEHIVG YHEHDSLLDH KEEEELTEEE RKAAWAEYEA
  2281  EKKGLTMRFN IPTGTNLPPV SFNSQTPYIP FNLGALSAMS NQQLEDLINQ GREKVVEATN
  2341  SVTAVRIQPL EDIISAVWKE NMNLSEAQVQ ALALSRQASQ ELDVKRREAI YNDVLTKQQM
  2401  LISCVQRILM NRRLQQQYNQ QQQQQMTYQQ ATLGHLMMPK PPNLIMNPSN YQQIDMRGMY
  2461  QPVAGGMQPP PLQRAPPPMR SKNPGPSQGK SM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATRX can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.49
Highest tissue expression: 28 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 28 nTPM
tongue: 25 nTPM
retina: 25 nTPM
thymus: 24 nTPM
cerebral cortex: 24 nTPM
parathyroid gland: 22 nTPM

Single-cell type

corticotrophs: 511 nCPM
thyrotrophs: 499 nCPM
lactotrophs: 474 nCPM
somatotrophs: 455 nCPM
prostatic glandular cells: 446 nCPM
megakaryocyte-erythroid progenitors: 441 nCPM

Immune cell

basophil: 44 nTPM
neutrophil: 33 nTPM
naive B-cell: 33 nTPM
memory B-cell: 31 nTPM
gdT-cell: 26 nTPM
MAIT T-cell: 25 nTPM

Brain region

cerebellum: 98 nTPM
hypothalamus: 76 nTPM
choroid plexus: 75 nTPM
midbrain: 72 nTPM
basal ganglia: 71 nTPM
cerebral cortex: 70 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATRX.

Disease | AllUniProt

Conditions ATRX is implicated in, by any mechanism.

Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) MIM:301040
Intellectual disability-hypotonic facies syndrome, X-linked, 1 (MRXHF1) MIM:309580
Alpha-thalassemia myelodysplasia syndrome (ATMDS) MIM:300448

Disease | GeneticClinVar

146 pathogenic / likely-pathogenic of 2,777 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Alpha thalassemia-X-linked intellectual disability syndrome
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Acquired hemoglobin H disease
Intellectual disability-hypotonic facies syndrome, X-linked
ATRX-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.12
gnomAD pLI: 1
gnomAD missense Z: 3.1
DepMap mean gene effect: -0.25
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

SNF2, N-terminal domain
Helicase, C-terminal domain-like
Zinc finger, FYVE/PHD-type
Zinc finger, RING/FYVE/PHD-type
Helicase superfamily 1/2, ATP-binding domain
ADD domain
P-loop containing nucleoside triphosphate hydrolase
SNF2-like, N-terminal domain superfamily
SNF2/RAD5-like, C-terminal helicase domain
SNF2-related domain
Helicase conserved C-terminal domain
ATRX, ADD domain
ATRX domain-containing protein
ATRX, C-terminal domain
Cysteine Rich ADD domain
ATRX C-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ATRX in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ATRX as an antibody target. Whether an autoantibody or antibody against ATRX could matter depends on whether native ATRX is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATRX is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ATRX as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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