Seroatlas · Human Serome Atlas

ATRIP

ATR-interacting protein

Also known as: ATRIP_HUMAN, FLJ12343, MGC20625, MGC21482, MGC26740

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

Protein identityUniProt · HPA

UniProt accession: Q8WXE1
Gene: ATRIP
Ensembl: ENSG00000164053
Chromosome: 3
Canonical length: 791 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

Canonical amino-acid sequenceUniProt

791 residues, UniProt reviewed canonical sequence.

>Q8WXE1|ATRIP
     1  MAGTSAPGSK RRSEPPAPRP GPPPGTGHPP SKRARGFSAA AAPDPDDPFG AHGDFTADDL
    61  EELDTLASQA LSQCPAAARD VSSDHKVHRL LDGMSKNPSG KNRETVPIKD NFELEVLQAQ
   121  YKELKEKMKV MEEEVLIKNG EIKILRDSLH QTESVLEEQR RSHFLLEQEK TQALSDKEKE
   181  FSKKLQSLQS ELQFKDAEMN ELRTKLQTSE RANKLAAPSV SHVSPRKNPS VVIKPEACSP
   241  QFGKTSFPTK ESFSANMSLP HPCQTESGYK PLVGREDSKP HSLRGDSIKQ EEAQKSFVDS
   301  WRQRSNTQGS ILINLLLKQP LIPGSSLSLC HLLSSSSESP AGTPLQPPGF GSTLAGMSGL
   361  RTTGSYDGSF SLSALREAQN LAFTGLNLVA RNECSRDGDP AEGGRRAFPL CQLPGAVHFL
   421  PLVQFFIGLH CQALQDLAAA KRSGAPGDSP THSSCVSSGV ETNPEDSVCI LEGFSVTALS
   481  ILQHLVCHSG AVVSLLLSGV GADSAAGEGN RSLVHRLSDG DMTSALRGVA DDQGQHPLLK
   541  MLLHLLAFSS AATGHLQASV LTQCLKVLVK LAENTSCDFL PRFQCVFQVL PKCLSPETPL
   601  PSVLLAVELL SLLADHDQLA PQLCSHSEGC LLLLLYMYIT SRPDRVALET QWLQLEQEVV
   661  WLLAKLGVQS PLPPVTGSNC QCNVEVVRAL TVMLHRQWLT VRRAGGPPRT DQQRRTVRCL
   721  RDTVLLLHGL SQKDKLFMMH CVEVLHQFDQ VMPGVSMLIR GLPDVTDCEE AALDDLCAAE
   781  TDVEDPEVEC G

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATRIP 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): 0.45
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

testis: 14 nTPM
cerebellum: 5.9 nTPM
thyroid gland: 5.1 nTPM
bone marrow: 4.8 nTPM
thymus: 4.5 nTPM
tonsil: 4.5 nTPM

Single-cell type

late primary spermatocytes: 68 nCPM
late spermatids: 54 nCPM
early spermatids: 43 nCPM
megakaryocytes: 25 nCPM
epicardial cells: 21 nCPM
hepatic stellate cells: 19 nCPM

Immune cell

plasmacytoid DC: 0.8 nTPM
classical monocyte: 0.7 nTPM
gdT-cell: 0.6 nTPM
memory CD4 T-cell: 0.6 nTPM
naive CD8 T-cell: 0.6 nTPM
non-classical monocyte: 0.6 nTPM

Brain region

cerebellum: 8.3 nTPM
choroid plexus: 5.3 nTPM
cerebral cortex: 5 nTPM
amygdala: 4.8 nTPM
white matter: 4.8 nTPM
thalamus: 4.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATRIP.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 1,227 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Microcephalic Primordial Dwarfism with immunodeficiency
Seckel syndrome

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): 0.64
gnomAD pLI: 0
gnomAD missense Z: 1.05
DepMap mean gene effect: -0.62
DepMap dependency class: common

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

K63-linked polyubiquitin modification-dependent protein binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

ATR-interacting protein

KeywordsUniProt

InteractionsUniProt · HPA

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

ATRIP 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 ATRIP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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