Seroatlas · Human Serome Atlas

PCARE

Photoreceptor cilium actin regulator

Also known as: C2orf71, FLJ34931, PCARE_HUMAN, RP54

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

Protein identityUniProt · HPA

UniProt accession
A6NGG8
Gene
PCARE
Ensembl
ENSG00000179270
Chromosome
2
Canonical length
1288 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]

Canonical amino-acid sequenceUniProt

1288 residues, UniProt reviewed canonical sequence.

>A6NGG8|PCARE
     1  MGCTPSHSDL VNSVAKSGIQ FLKKPKAIRP GCQGGSERGS IPLLVKNSTC YDAGEGLAEE
    61  QPSPRRNQTT AKGLCQLMGD PASGKRKDME GLIPGTKTSS SQLNKSQSHM AKDIPFKTQG
   121  SHGSQGADFS GDESEESSTQ DTSKWKRTAK CHTSSTQSHC YQTIHPAHEP EGKVDFPEPL
   181  VKAHQQAYTY LHSSLSKYEA ILCIIHQATQ TRELLQPMVS FLLLCFEEIS QLLGEISKDG
   241  EVLLQEVRED LAWPLKKREP QEQPNLLQQL LQYTVSKLQV LNGTVASLTG SFLEGSSSYL
   301  HSTATHLENK LSTKRNVDER LLRALRQLES LASGCGDPGV QGLPLCSEDS GIGADNESVQ
   361  SVDKLGKQTS WDLAPEPEEW KSVTSPHTEA RQSGHTWQQS PFCLGSGRPQ DCLLSGAPMA
   421  KVQPRAQDEA RSPCLSSTSP ENITSPPLKL GTSTPCDSFG IGVSVEPHLS KTSRPMDASS
   481  LSDSEDSSPE EEEEDKMSSM SLCAWQEKTP HSRPQSSPAD RESPFQARTR RLRSLQAQEM
   541  ILKMKESISE RIKFVPVPCG HQDWSEEEEG RTVVPPRPST VSGSRRAPER QTRSQSESCL
   601  QSHVEDPTFQ ELRRVQRDLS QKLEAFYALG AKGQGQSQEQ ILQPRAAAVW PNGTCRVSPS
   661  NTTSRLKASL TKNFSILPSQ DKSILQKCNP HPEDEQGKAG KLPNAIPSGE VSEAAKATDW
   721  NVRGCPTRTS VKKLIETFSP TESLRMLGDS KDAGASPCLR NCIMPPRFPK YTGLAPLYPK
   781  PQISPASGRE SLKMGIGWKP LAPIFPPLPK AEAAKSEELS CEMEGNLEHL PPPPMEVLMD
   841  KSFASLESPE SSKSTENSPK ETQEPGPGEA GPTRRTWASP KLRASVSPLD LLPSKSTASL
   901  TKPHSTGPGS GRSSCQPRKP ALDLSSPPAT SQSPEVKGGT WSQAEKATSL YRQPRKAIAW
   961  HHSGPPSGQN RTSESSLARP RQSRERSPPV GRKASPTRTH WVPQADKRRR SLPSSYRPAQ
  1021  PSPSAVQTPP SPPVSPRVLS PPTTKRRTSP PHQPKLPNPP PESAPAQCKV PSPPTQHPEA
  1081  SPPFSIPSPS PPMSPSQEHK ETRDSEDSQA VIAKVSGNTH SIFCPATSSL FEAKPPLSTA
  1141  HPLTPPSLPP EAGGPLGNPA ECWKNSSGPW LRADSQRRAA LCALNPLPFL RRTASDRQPG
  1201  GRPQPPTLDP TSTSYESQLG QNSSSEESPK KDTEPGSSPC SPELQGGTRR ASPPEFCVLG
  1261  HGLQPEPRTG HIQDKSQPEA QPQQEEVS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PCARE 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)
0.68
Highest tissue expression
26 nTPM

Expression across tissuesHPA

Tissue

  • retina: 26 nTPM
  • choroid plexus: 0.5 nTPM
  • tongue: 0.5 nTPM
  • heart muscle: 0.4 nTPM
  • kidney: 0.4 nTPM
  • ovary: 0.3 nTPM

Single-cell type

  • rod photoreceptor cells: 44 nCPM
  • cone photoreceptor cells: 39 nCPM
  • thymic myoid cells: 27 nCPM
  • early spermatids: 9.6 nCPM
  • oocytes: 9.2 nCPM
  • podocytes: 5.9 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • choroid plexus: 3.3 nTPM
  • hypothalamus: 1.2 nTPM
  • midbrain: 0.8 nTPM
  • spinal cord: 0.7 nTPM
  • basal ganglia: 0.6 nTPM
  • medulla oblongata: 0.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PCARE.

Disease | AllUniProt

Conditions PCARE is implicated in, by any mechanism.

Disease | GeneticClinVar

153 pathogenic / likely-pathogenic of 1,136 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on PCARE was assayed in.

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)
1.11
gnomAD pLI
0
DepMap mean gene effect
-0.02
DepMap dependency class
none

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Photoreceptor cilium actin regulator
  • Retinal protein

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

Canonical record: https://seroatlas.com/gene/PCARE. 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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