• Gene id: 23007

Gene Summary

• Gene Symbol: PLCH1   Gene   UCSC   Ensembl
• Aliases: PLC eta 1, PLC-L3, PLCL3
• Gene name: phospholipase C eta 1
• Alternate names: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1, PLC-eta-1, phosphoinositide phospholipase C-eta-1, phospholipase C-eta1a, phospholipase C-eta1b, phospholipase C-like 3, phospholipase C-like protein 3,
• Gene location: 3q25.31 (155745723: 155458602)     Exons: 33     NC_000003.12
• Gene summary(Entrez): 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 di
• OMIM: 616822

Protein Summary

• Protein general information: Q4KWH8  
  • Name: 1 phosphatidylinositol 4,5 bisphosphate phosphodiesterase eta 1 (EC 3.1.4.11) (Phosphoinositide phospholipase C eta 1) (Phospholipase C eta 1) (PLC eta 1) (Phospholipase C like protein 3) (PLC L3)
  • Length: 1693  
  • Mass: 189223
  • Tissue specificity: Expressed in brain and to a lower extent in lung. In brain, it is found in cerebrum, cerebellum and spinal cord. {ECO
• Sequence:

  MADLEVYKNLSPEKVERCMSVMQSGTQMIKLKRGTKGLVRLFYLDEHRTRLRWRPSRKSEKAKILIDSIYKVTEG
  RQSEIFHRQAEGNFDPSCCFTIYHGNHMESLDLITSNPEEARTWITGLKYLMAGISDEDSLAKRQRTHDQWVKQT
  FEEADKNGDGLLNIEEIHQLMHKLNVNLPRRKVRQMFQEADTDENQGTLTFEEFCVFYKMMSLRRDLYLLLLSYS
  DKKDHLTVEELAQFLKVEQKMNNVTTDYCLDIIKKFEVSEENKVKNVLGIEGFTNFMRSPACDIFNPLHHEVYQD
  MDQPLCNYYIASSHNTYLTGDQLLSQSKVDMYARVLQEGCRCVEVDCWDGPDGEPVVHHGYTLTSKILFRDVVET
  INKHAFVKNEFPVILSIENHCSIQQQRKIAQYLKGIFGDKLDLSSVDTGECKQLPSPQSLKGKILVKGKKLPYHL
  GDDAEEGEVSDEDSADEIEDECKFKLHYSNGTTEHQVESFIRKKLESLLKESQIRDKEDPDSFTVRALLKATHEG
  LNAHLKQSPDVKESGKKSHGRSLMTNFGKHKKTTKSRSKSYSTDDEEDTQQSTGKEGGQLYRLGRRRKTMKLCRE
  LSDLVVYTNSVAAQDIVDDGTTGNVLSFSETRAHQVVQQKSEQFMIYNQKQLTRIYPSAYRIDSSNFNPLPYWNA
  GCQLVALNYQSEGRMMQLNRAKFKANGNCGYVLKPQQMCKGTFNPFSGDPLPANPKKQLILKVISGQQLPKPPDS
  MFGDRGEIIDPFVEVEIIGLPVDCCKDQTRVVDDNGFNPVWEETLTFTVHMPEIALVRFLVWDHDPIGRDFVGQR
  TVTFSSLVPGYRHVYLEGLTEASIFVHITINEIYGKWSPLILNPSYTILHFLGATKNRQLQGLKGLFNKNPRHSS
  SENNSHYVRKRSIGDRILRRTASAPAKGRKKSKMGFQEMVEIKDSVSEATRDQDGVLRRTTRSLQARPVSMPVDR
  NLLGALSLPVSETAKDIEGKENSLAEDKDGRRKGKASIKDPHFLNFNKKLSSSSSALLHKDTSQGDTIVSTAHMS
  VTGEQLGMSSPRGGRTTSNATSNCQENPCPSKSLSPKQHLAPDPVVNPTQDLHGVKIKEKGNPEDFVEGKSILSG
  SVLSHSNLEIKNLEGNRGKGRAATSFSLSDVSMLCSDIPDLHSTAILQESVISHLIDNVTLTNENEPGSSISALI
  GQFDETNNQALTVVSHLHNTSVMSGHCPLPSLGLKMPIKHGFCKGKSKSSFLCSSPELIALSSSETTKHATNTVY
  ETTCTPISKTKPDDDLSSKAKTAALESNLPGSPNTSRGWLPKSPTKGEDWETLKSCSPASSPDLTLEDVIADPTL
  CFNSGESSLVEIDGESENLSLTTCEYRREGTSQLASPLKLKYNQGVVEHFQRGLRNGYCKETLRPSVPEIFNNIQ
  DVKTQSISYLAYQGAGFVHNHFSDSDAKMFQTCVPQQSSAQDMHVPVPKQLAHLPLPALKLPSPCKSKSLGDLTS
  EDIACNFESKYQCISKSFVTTGIRDKKGVTVKTKSLEPIDALTEQLRKLVSFDQEDNCQVLYSKQDANQLPRALV
  RKLSSRSQSRVRNIASRAKEKQEANKQKVPNPSNGAGVVLRNKPSAPTPAVNRHSTGSYIAGYLKNTKGGGLEGR
  GIPEGACTALHYGHVDQFCSDNSVLQTEPSSDDKPEIYFLLRL

• Structural information:
  • Protein Domains: (20..12-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (142..17-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (178..21-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448";-)
  • Interpro: IPR000008  IPR035892  IPR011992  IPR018247  IPR002048   IPR011993  IPR001849  IPR001192  IPR028392  IPR017946  IPR015359  IPR000909  IPR001711  
  • Prosite: PS50004 PS00018 PS50222 PS50003 PS50007 PS50008
  • STRING: ENSP00000345988
• Other Databases: GeneCards:  PLCH1  Malacards:  PLCH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004435	phosphatidylinositol phospholipase C activity	IBA	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IBA	biological process
GO:0032959	inositol trisphosphate biosynthetic process	IBA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0050429	calcium-dependent phospholipase C activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0050429	calcium-dependent phospholipase C activity	IDA	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq