Seroatlas · Human Serome Atlas

PIP5K1C

Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma

Also known as: KIAA0589, LCCS3, PI51C_HUMAN, PIP5Kgamma

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

Protein identityUniProt · HPA

UniProt accession
O60331
Gene
PIP5K1C
Ensembl
ENSG00000186111
Chromosome
19
Canonical length
668 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]

Canonical amino-acid sequenceUniProt

668 residues, UniProt reviewed canonical sequence.

>O60331|PIP5K1C
     1  MELEVPDEAE SAEAGAVPSE AAWAAESGAA AGLAQKKAAP TEVLSMTAQP GPGHGKKLGH
    61  RGVDASGETT YKKTTSSTLK GAIQLGIGYT VGHLSSKPER DVLMQDFYVV ESIFFPSEGS
   121  NLTPAHHFQD FRFKTYAPVA FRYFRELFGI RPDDYLYSLC NEPLIELSNP GASGSLFYVT
   181  SDDEFIIKTV MHKEAEFLQK LLPGYYMNLN QNPRTLLPKF YGLYCVQSGG KNIRVVVMNN
   241  ILPRVVKMHL KFDLKGSTYK RRASKKEKEK SFPTYKDLDF MQDMPEGLLL DADTFSALVK
   301  TLQRDCLVLE SFKIMDYSLL LGVHNIDQHE RERQAQGAQS TSDEKRPVGQ KALYSTAMES
   361  IQGGAARGEA IESDDTMGGI PAVNGRGERL LLHIGIIDIL QSYRFIKKLE HTWKALVHDG
   421  DTVSVHRPSF YAERFFKFMS NTVFRKNSSL KSSPSKKGRG GALLAVKPLG PTAAFSASQI
   481  PSEREEAQYD LRGARSYPTL EDEGRPDLLP CTPPSFEEAT TASIATTLSS TSLSIPERSP
   541  SETSEQPRYR RRTQSSGQDG RPQEEPPAEE DLQQITVQVE PACSVEIVVP KEEDAGVEAS
   601  PAGASAAVEV ETASQASDEE GAPASQASDE EDAPATDIYF PTDERSWVYS PLHYSAQAPP
   661  ASDGESDT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIP5K1C 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.47
Highest tissue expression
116 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 116 nTPM
  • cerebral cortex: 74 nTPM
  • testis: 56 nTPM
  • colon: 56 nTPM
  • hippocampal formation: 49 nTPM
  • blood vessel: 43 nTPM

Single-cell type

  • retinal bipolar cells: 69 nCPM
  • rod photoreceptor cells: 59 nCPM
  • cone photoreceptor cells: 56 nCPM
  • late spermatids: 55 nCPM
  • smooth muscle cells: 55 nCPM
  • vascular endothelial cells: 51 nCPM

Immune cell

  • basophil: 1 nTPM
  • myeloid DC: 0.8 nTPM
  • non-classical monocyte: 0.8 nTPM
  • classical monocyte: 0.7 nTPM
  • gdT-cell: 0.7 nTPM
  • memory B-cell: 0.6 nTPM

Brain region

  • cerebral cortex: 210 nTPM
  • hippocampal formation: 159 nTPM
  • white matter: 139 nTPM
  • amygdala: 138 nTPM
  • thalamus: 115 nTPM
  • cerebellum: 113 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIP5K1C.

Disease | AllUniProt

Conditions PIP5K1C is implicated in, by any mechanism.

  • Lethal congenital contracture syndrome 3 (LCCS3) MIM:611369

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 289 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.31
gnomAD pLI
0.98
gnomAD missense Z
2.29
DepMap mean gene effect
-0.07
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 PIP5K1C 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 PIP5K1C as an antibody target. Whether an autoantibody or antibody against PIP5K1C could matter depends on whether native PIP5K1C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PIP5K1C is annotated at the cell surface, where native PIP5K1C is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label PIP5K1C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PIP5K1C. 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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