PLCH1

Protein identityUniProt · HPA

UniProt accession

Q4KWH8

Gene

PLCH1

Ensembl

ENSG00000114805

Chromosome

3

Canonical length

1693 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Vesicles

OverviewNCBI Gene

PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]

Canonical amino-acid sequenceUniProt

1693 residues, UniProt reviewed canonical sequence.

>Q4KWH8|PLCH1
     1  MADLEVYKNL SPEKVERCMS VMQSGTQMIK LKRGTKGLVR LFYLDEHRTR LRWRPSRKSE
    61  KAKILIDSIY KVTEGRQSEI FHRQAEGNFD PSCCFTIYHG NHMESLDLIT SNPEEARTWI
   121  TGLKYLMAGI SDEDSLAKRQ RTHDQWVKQT FEEADKNGDG LLNIEEIHQL MHKLNVNLPR
   181  RKVRQMFQEA DTDENQGTLT FEEFCVFYKM MSLRRDLYLL LLSYSDKKDH LTVEELAQFL
   241  KVEQKMNNVT TDYCLDIIKK FEVSEENKVK NVLGIEGFTN FMRSPACDIF NPLHHEVYQD
   301  MDQPLCNYYI ASSHNTYLTG DQLLSQSKVD MYARVLQEGC RCVEVDCWDG PDGEPVVHHG
   361  YTLTSKILFR DVVETINKHA FVKNEFPVIL SIENHCSIQQ QRKIAQYLKG IFGDKLDLSS
   421  VDTGECKQLP SPQSLKGKIL VKGKKLPYHL GDDAEEGEVS DEDSADEIED ECKFKLHYSN
   481  GTTEHQVESF IRKKLESLLK ESQIRDKEDP DSFTVRALLK ATHEGLNAHL KQSPDVKESG
   541  KKSHGRSLMT NFGKHKKTTK SRSKSYSTDD EEDTQQSTGK EGGQLYRLGR RRKTMKLCRE
   601  LSDLVVYTNS VAAQDIVDDG TTGNVLSFSE TRAHQVVQQK SEQFMIYNQK QLTRIYPSAY
   661  RIDSSNFNPL PYWNAGCQLV ALNYQSEGRM MQLNRAKFKA NGNCGYVLKP QQMCKGTFNP
   721  FSGDPLPANP KKQLILKVIS GQQLPKPPDS MFGDRGEIID PFVEVEIIGL PVDCCKDQTR
   781  VVDDNGFNPV WEETLTFTVH MPEIALVRFL VWDHDPIGRD FVGQRTVTFS SLVPGYRHVY
   841  LEGLTEASIF VHITINEIYG KWSPLILNPS YTILHFLGAT KNRQLQGLKG LFNKNPRHSS
   901  SENNSHYVRK RSIGDRILRR TASAPAKGRK KSKMGFQEMV EIKDSVSEAT RDQDGVLRRT
   961  TRSLQARPVS MPVDRNLLGA LSLPVSETAK DIEGKENSLA EDKDGRRKGK ASIKDPHFLN
  1021  FNKKLSSSSS ALLHKDTSQG DTIVSTAHMS VTGEQLGMSS PRGGRTTSNA TSNCQENPCP
  1081  SKSLSPKQHL APDPVVNPTQ DLHGVKIKEK GNPEDFVEGK SILSGSVLSH SNLEIKNLEG
  1141  NRGKGRAATS FSLSDVSMLC SDIPDLHSTA ILQESVISHL IDNVTLTNEN EPGSSISALI
  1201  GQFDETNNQA LTVVSHLHNT SVMSGHCPLP SLGLKMPIKH GFCKGKSKSS FLCSSPELIA
  1261  LSSSETTKHA TNTVYETTCT PISKTKPDDD LSSKAKTAAL ESNLPGSPNT SRGWLPKSPT
  1321  KGEDWETLKS CSPASSPDLT LEDVIADPTL CFNSGESSLV EIDGESENLS LTTCEYRREG
  1381  TSQLASPLKL KYNQGVVEHF QRGLRNGYCK ETLRPSVPEI FNNIQDVKTQ SISYLAYQGA
  1441  GFVHNHFSDS DAKMFQTCVP QQSSAQDMHV PVPKQLAHLP LPALKLPSPC KSKSLGDLTS
  1501  EDIACNFESK YQCISKSFVT TGIRDKKGVT VKTKSLEPID ALTEQLRKLV SFDQEDNCQV
  1561  LYSKQDANQL PRALVRKLSS RSQSRVRNIA SRAKEKQEAN KQKVPNPSNG AGVVLRNKPS
  1621  APTPAVNRHS TGSYIAGYLK NTKGGGLEGR GIPEGACTAL HYGHVDQFCS DNSVLQTEPS
  1681  SDDKPEIYFL LRL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLCH1 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)

0.48

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PLCH1.

Disease | AllUniProt

Conditions PLCH1 is implicated in, by any mechanism.

• Holoprosencephaly 14 (HPE14) MIM:619895

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 269 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Holoprosencephaly 14

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)

0.34

gnomAD pLI

0.4

gnomAD missense Z

1.48

DepMap mean gene effect

0.12

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• lipid catabolic process
• phosphatidylinositol metabolic process
• phosphatidylinositol-mediated signaling
• release of sequestered calcium ion into cytosol

Molecular functions

• calcium ion binding
• calcium-dependent phospholipase C activity
• phosphatidylinositol-4,5-bisphosphate phospholipase C activity

Cellular components

• cytoplasm
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• C2 domain
• Phosphatidylinositol-specific phospholipase C, X domain
• Phosphoinositide phospholipase C family
• Phospholipase C, phosphatidylinositol-specific, Y domain
• Pleckstrin homology domain
• EF-hand domain
• EF-hand domain pair
• PH-like domain superfamily
• Phosphoinositide-specific phospholipase C, EF-hand-like domain
• PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily
• EF-Hand 1, calcium-binding site
• C2 domain superfamily
• C2 domain
• Phosphatidylinositol-specific phospholipase C, Y domain
• Phosphatidylinositol-specific phospholipase C, X domain
• Phosphoinositide-specific phospholipase C, efhand-like
• Pleckstrin homology domain
• 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1, catalytic domain
• 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1, EF-hand motif

KeywordsUniProt

• Calcium
• Cytoplasm
• Holoprosencephaly
• Hydrolase
• Lipid degradation
• Lipid metabolism
• Membrane
• Metal-binding
• Repeat
• Transducer

InteractionsUniProt · HPA

Protein binding partners of PLCH1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• YWHAB
• YWHAE
• YWHAG
• YWHAH
• YWHAZ