Seroatlas · Human Serome Atlas

ITPR1

Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1

Also known as: ACV, Insp3r1, IP3R1, ITPR1_HUMAN, PPP1R94, SCA15, SCA16, SCA29

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

Protein identityUniProt · HPA

UniProt accession
Q14643
Gene
ITPR1
Ensembl
ENSG00000150995
Chromosome
3
Canonical length
2758 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Vesicles
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

Canonical amino-acid sequenceUniProt

2758 residues, UniProt reviewed canonical sequence.

>Q14643|ITPR1
     1  MSDKMSSFLH IGDICSLYAE GSTNGFISTL GLVDDRCVVQ PETGDLNNPP KKFRDCLFKL
    61  CPMNRYSAQK QFWKAAKPGA NSTTDAVLLN KLHHAADLEK KQNETENRKL LGTVIQYGNV
   121  IQLLHLKSNK YLTVNKRLPA LLEKNAMRVT LDEAGNEGSW FYIQPFYKLR SIGDSVVIGD
   181  KVVLNPVNAG QPLHASSHQL VDNPGCNEVN SVNCNTSWKI VLFMKWSDNK DDILKGGDVV
   241  RLFHAEQEKF LTCDEHRKKQ HVFLRTTGRQ SATSATSSKA LWEVEVVQHD PCRGGAGYWN
   301  SLFRFKHLAT GHYLAAEVDP DFEEECLEFQ PSVDPDQDAS RSRLRNAQEK MVYSLVSVPE
   361  GNDISSIFEL DPTTLRGGDS LVPRNSYVRL RHLCTNTWVH STNIPIDKEE EKPVMLKIGT
   421  SPVKEDKEAF AIVPVSPAEV RDLDFANDAS KVLGSIAGKL EKGTITQNER RSVTKLLEDL
   481  VYFVTGGTNS GQDVLEVVFS KPNRERQKLM REQNILKQIF KLLQAPFTDC GDGPMLRLEE
   541  LGDQRHAPFR HICRLCYRVL RHSQQDYRKN QEYIAKQFGF MQKQIGYDVL AEDTITALLH
   601  NNRKLLEKHI TAAEIDTFVS LVRKNREPRF LDYLSDLCVS MNKSIPVTQE LICKAVLNPT
   661  NADILIETKL VLSRFEFEGV SSTGENALEA GEDEEEVWLF WRDSNKEIRS KSVRELAQDA
   721  KEGQKEDRDV LSYYRYQLNL FARMCLDRQY LAINEISGQL DVDLILRCMS DENLPYDLRA
   781  SFCRLMLHMH VDRDPQEQVT PVKYARLWSE IPSEIAIDDY DSSGASKDEI KERFAQTMEF
   841  VEEYLRDVVC QRFPFSDKEK NKLTFEVVNL ARNLIYFGFY NFSDLLRLTK ILLAILDCVH
   901  VTTIFPISKM AKGEENKGNN DVEKLKSSNV MRSIHGVGEL MTQVVLRGGG FLPMTPMAAA
   961  PEGNVKQAEP EKEDIMVMDT KLKIIEILQF ILNVRLDYRI SCLLCIFKRE FDESNSQTSE
  1021  TSSGNSSQEG PSNVPGALDF EHIEEQAEGI FGGSEENTPL DLDDHGGRTF LRVLLHLTMH
  1081  DYPPLVSGAL QLLFRHFSQR QEVLQAFKQV QLLVTSQDVD NYKQIKQDLD QLRSIVEKSE
  1141  LWVYKGQGPD ETMDGASGEN EHKKTEEGNN KPQKHESTSS YNYRVVKEIL IRLSKLCVQE
  1201  SASVRKSRKQ QQRLLRNMGA HAVVLELLQI PYEKAEDTKM QEIMRLAHEF LQNFCAGNQQ
  1261  NQALLHKHIN LFLNPGILEA VTMQHIFMNN FQLCSEINER VVQHFVHCIE THGRNVQYIK
  1321  FLQTIVKAEG KFIKKCQDMV MAELVNSGED VLVFYNDRAS FQTLIQMMRS ERDRMDENSP
  1381  LMYHIHLVEL LAVCTEGKNV YTEIKCNSLL PLDDIVRVVT HEDCIPEVKI AYINFLNHCY
  1441  VDTEVEMKEI YTSNHMWKLF ENFLVDICRA CNNTSDRKHA DSILEKYVTE IVMSIVTTFF
  1501  SSPFSDQSTT LQTRQPVFVQ LLQGVFRVYH CNWLMPSQKA SVESCIRVLS DVAKSRAIAI
  1561  PVDLDSQVNN LFLKSHSIVQ KTAMNWRLSA RNAARRDSVL AASRDYRNII ERLQDIVSAL
  1621  EDRLRPLVQA ELSVLVDVLH RPELLFPENT DARRKCESGG FICKLIKHTK QLLEENEEKL
  1681  CIKVLQTLRE MMTKDRGYGE KLISIDELDN AELPPAPDSE NATEELEPSP PLRQLEDHKR
  1741  GEALRQVLVN RYYGNVRPSG RRESLTSFGN GPLSAGGPGK PGGGGGGSGS SSMSRGEMSL
  1801  AEVQCHLDKE GASNLVIDLI MNASSDRVFH ESILLAIALL EGGNTTIQHS FFCRLTEDKK
  1861  SEKFFKVFYD RMKVAQQEIK ATVTVNTSDL GNKKKDDEVD RDAPSRKKAK EPTTQITEEV
  1921  RDQLLEASAA TRKAFTTFRR EADPDDHYQP GEGTQATADK AKDDLEMSAV ITIMQPILRF
  1981  LQLLCENHNR DLQNFLRCQN NKTNYNLVCE TLQFLDCICG STTGGLGLLG LYINEKNVAL
  2041  INQTLESLTE YCQGPCHENQ NCIATHESNG IDIITALILN DINPLGKKRM DLVLELKNNA
  2101  SKLLLAIMES RHDSENAERI LYNMRPKELV EVIKKAYMQG EVEFEDGENG EDGAASPRNV
  2161  GHNIYILAHQ LARHNKELQS MLKPGGQVDG DEALEFYAKH TAQIEIVRLD RTMEQIVFPV
  2221  PSICEFLTKE SKLRIYYTTE RDEQGSKIND FFLRSEDLFN EMNWQKKLRA QPVLYWCARN
  2281  MSFWSSISFN LAVLMNLLVA FFYPFKGVRG GTLEPHWSGL LWTAMLISLA IVIALPKPHG
  2341  IRALIASTIL RLIFSVGLQP TLFLLGAFNV CNKIIFLMSF VGNCGTFTRG YRAMVLDVEF
  2401  LYHLLYLVIC AMGLFVHEFF YSLLLFDLVY REETLLNVIK SVTRNGRSII LTAVLALILV
  2461  YLFSIVGYLF FKDDFILEVD RLPNETAVPE TGESLASEFL FSDVCRVESG ENCSSPAPRE
  2521  ELVPAEETEQ DKEHTCETLL MCIVTVLSHG LRSGGGVGDV LRKPSKEEPL FAARVIYDLL
  2581  FFFMVIIIVL NLIFGVIIDT FADLRSEKQK KEEILKTTCF ICGLERDKFD NKTVTFEEHI
  2641  KEEHNMWHYL CFIVLVKVKD STEYTGPESY VAEMIKERNL DWFPRMRAMS LVSSDSEGEQ
  2701  NELRNLQEKL ESTMKLVTNL SGQLSELKDQ MTEQRKQKQR IGLLGHPPHM NVNPQQPA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ITPR1 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
Other membrane
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0
Highest tissue expression
42 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 42 nTPM
  • thyroid gland: 29 nTPM
  • blood vessel: 28 nTPM
  • seminal vesicle: 25 nTPM
  • smooth muscle: 22 nTPM
  • cerebellum: 21 nTPM

Single-cell type

  • gonadotrophs: 1,021 nCPM
  • distal convoluted tubule cells: 893 nCPM
  • choroid plexus epithelial cells: 718 nCPM
  • pituitary stem cells: 648 nCPM
  • salivary myoepithelial cells: 586 nCPM
  • b-cells: 556 nCPM

Immune cell

  • naive B-cell: 6.2 nTPM
  • memory B-cell: 4.5 nTPM
  • basophil: 3.2 nTPM
  • plasmacytoid DC: 2.8 nTPM
  • myeloid DC: 1.8 nTPM
  • classical monocyte: 1.4 nTPM

Brain region

  • cerebellum: 167 nTPM
  • cerebral cortex: 97 nTPM
  • choroid plexus: 89 nTPM
  • basal ganglia: 80 nTPM
  • white matter: 68 nTPM
  • hippocampal formation: 50 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ITPR1.

Disease | AllUniProt

Conditions ITPR1 is implicated in, by any mechanism.

Disease | GeneticClinVar

89 pathogenic / likely-pathogenic of 2,300 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

ReferencesPubMed · IEDB

Publications for ITPR1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

6 publications

Show 1 more

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)
0.13
gnomAD pLI
1
gnomAD missense Z
5.6
DepMap mean gene effect
0
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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ITPR1 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 ITPR1 as an antibody target. Whether an autoantibody or antibody against ITPR1 could matter depends on whether native ITPR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ITPR1 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 ITPR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ITPR1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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