O75038 (PLCH2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 86.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase eta-2 EC=3.1.4.11 Alternative name(s): Phosphoinositide phospholipase C-eta-2 Phosphoinositide phospholipase C-like 4 Short name=PLC-L4 Short name=Phospholipase C-like protein 4 Phospholipase C-eta-2 Short name=PLC-eta2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1416 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This phospholipase activity is very sensitive to calcium. May be important for formation and maintenance of the neuronal network in the postnatal brain By similarity. |
| Catalytic activity | 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol. |
| Cofactor | Calcium By similarity. |
| Subcellular location | Cytoplasm. Cell membrane. Note: Localized predominantly at the plasma membrane By similarity. |
| Tissue specificity | Expressed in retina and kidney. Ref.1 |
| Sequence similarities | Contains 1 C2 domain. Contains 2 EF-hand domains. Contains 1 PH domain. Contains 1 PI-PLC X-box domain. Contains 1 PI-PLC Y-box domain. |
| Sequence caution | The sequence AAH43358.1 differs from that shown. Reason: Frameshift at position 172. The sequence BAA32295.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAC56932.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Lipid degradation |
| Cellular component | Cell membrane Cytoplasm Membrane |
| Coding sequence diversity | Alternative splicing |
| Domain | Repeat |
| Ligand | Calcium Metal-binding |
| Molecular function | Hydrolase Transducer |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | intracellular signal transduction Inferred from electronic annotation. Source: InterPro lipid catabolic processInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | calcium ion binding Inferred from electronic annotation. Source: InterPro phosphatidylinositol phospholipase C activityInferred from electronic annotation. Source: EC signal transducer activityInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | |||||||||
| Isoform 1 (identifier: O75038-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | |||||||||
| Isoform 2 (identifier: O75038-2) The sequence of this isoform differs from the canonical sequence as follows: 1-41: MSGPWPSPDSRTKGTVAWLAEVLLWVGGSVVLSSEWQLGPL → MEEPGPPGGLSQDQ 987-1156: DTRPLSTQRP...SSMSSSDTVI → GKAPAAVAEK...KSPMFSAVRN 1157-1416: Missing. | |||||||||
| Isoform 3 (identifier: O75038-3) The sequence of this isoform differs from the canonical sequence as follows: 706-741: Missing. | |||||||||
| Note: No experimental confirmation available. | |||||||||
| Isoform 4 (identifier: O75038-4) The sequence of this isoform differs from the canonical sequence as follows: 987-1211: DTRPLSTQRP...SNPNLRATGQ → GKAPAAVAEK...TLLPWLACGP 1212-1416: Missing. | |||||||||
| Note: No experimental confirmation available. | |||||||||
Sequence annotation (Features) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
| Sequence conflict | 1004 | 1 | P → L in BAB84975. Ref.2 | ||||||
| Isoform 5 (identifier: O75038-5) The sequence of this isoform differs from the canonical sequence as follows: 1-45: Missing. 117-785: Missing. 987-1211: DTRPLSTQRP...SNPNLRATGQ → GKAPAAVAEK...TLLPWLACGP 1212-1416: Missing. | |||||||||
| Note: No experimental confirmation available. | |||||||||
Sequence annotation (Features) | |||||||||
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
| Sequence conflict | 209 | 1 | Q → L in BAC56932. Ref.2 | ||||||
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1416 | 1416 | 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase eta-2 | PRO_0000088507 | |||||
Regions | |||||||||
| Domain | 47 – 155 | 109 | PH | ||||||
| Domain | 169 – 204 | 36 | EF-hand 1 | ||||||
| Domain | 205 – 241 | 37 | EF-hand 2 | ||||||
| Domain | 326 – 471 | 146 | PI-PLC X-box | ||||||
| Domain | 626 – 740 | 115 | PI-PLC Y-box | ||||||
| Domain | 745 – 852 | 108 | C2 | ||||||
| Calcium binding | 182 – 193 | 12 | Potential | ||||||
| Region | 1 – 155 | 155 | Necessary for plasma membrane localization By similarity | ||||||
Sites | |||||||||
| Active site | 341 | 1 | By similarity | ||||||
| Active site | 385 | 1 | By similarity | ||||||
| Metal binding | 342 | 1 | Calcium 1; catalytic By similarity | ||||||
| Metal binding | 371 | 1 | Calcium 1; catalytic By similarity | ||||||
| Metal binding | 373 | 1 | Calcium 1; catalytic By similarity | ||||||
| Metal binding | 420 | 1 | Calcium 1; catalytic By similarity | ||||||
| Metal binding | 784 | 1 | Calcium 2; via carbonyl oxygen By similarity | ||||||
| Metal binding | 786 | 1 | Calcium 2 By similarity | ||||||
| Metal binding | 810 | 1 | Calcium 2 By similarity | ||||||
| Metal binding | 839 | 1 | Calcium 3 By similarity | ||||||
| Metal binding | 840 | 1 | Calcium 3; via carbonyl oxygen By similarity | ||||||
| Metal binding | 841 | 1 | Calcium 3 By similarity | ||||||
| Binding site | 469 | 1 | Substrate By similarity | ||||||
| Binding site | 471 | 1 | Substrate By similarity | ||||||
| Binding site | 653 | 1 | Substrate By similarity | ||||||
| Binding site | 680 | 1 | Substrate By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 595 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 605 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 45 | 45 | Missing in isoform 5. | VSP_029067 | |||||
| Alternative sequence | 1 – 41 | 41 | MSGPW…QLGPL → MEEPGPPGGLSQDQ in isoform 2. | VSP_029068 | |||||
| Alternative sequence | 117 – 785 | 669 | Missing in isoform 5. | VSP_029069 | |||||
| Alternative sequence | 706 – 741 | 36 | Missing in isoform 3. | VSP_029070 | |||||
| Alternative sequence | 987 – 1211 | 225 | DTRPL…RATGQ → GKAPAAVAEKSPVRVRPPRV LDGPGPAGMAATCMKCVVGS CAGVNTGGLQRERPPSPGPA SRQAAIRQQPRARADSLGAP CCGLDPHAIPGRSREAPKGP GAWRQGPGGSGSMSSDSSSP DSPGIPERSPRWPEGACRQP GALQGEMSALFAQKLEEIRS KSPMFSAGKPLLPCVVLPHA PGMAGPGSPAAASAWTVSPR VLVLVALYPWHCLRGTLLPW LACGP in isoform 4 and isoform 5. | VSP_029071 | |||||
| Alternative sequence | 987 – 1156 | 170 | DTRPL…SDTVI → GKAPAAVAEKSPVRVRPPRV LDGPGPAGMAATCMKCVVGS CAGVNTGGLQRERPPSPGPA SRQAAIRQQPRARADSLGAP CCGLDPHAIPGRSREAPKGP GAWRQGPGGSGSMSSDSSSP DSPGIPERSPRWPEGACRQP GALQGEMSALFAQKLEEIRS KSPMFSAVRN in isoform 2. | VSP_029072 | |||||
| Alternative sequence | 1157 – 1416 | 260 | Missing in isoform 2. | VSP_029073 | |||||
| Alternative sequence | 1212 – 1416 | 205 | Missing in isoform 4 and isoform 5. | VSP_029074 | |||||
Experimental info | |||||||||
| Sequence conflict | 559 | 1 | D → E in BAB84975. Ref.2 | ||||||
| Sequence conflict | 560 | 1 | V → M in BAB84975. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning and characterization of PLC-eta2." Zhou Y., Wing M.R., Sondek J., Harden T.K. Biochem. J. 391:667-676(2005) [PubMed: 16107206] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. |
| [2] | "The nucleotide sequence of a long cDNA clone isolated from human spleen." Jikuya H., Takano J., Nomura N., Kikuno R., Nagase T., Ohara O. Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 556-1403 (ISOFORM 4). Tissue: Spleen. |
| [3] | "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain." Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D., Nomura N., Ohara O. DNA Res. 4:345-349(1997) [PubMed: 9455484] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain. |
| [4] | Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D., Nomura N., Ohara O. Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION. |
| [5] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 116-1416 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 143-1416 (ISOFORM 3). Tissue: Brain, Pancreas and Skin. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | DQ176850 mRNA. Translation: ABA12209.1. AK074149 mRNA. Translation: BAB84975.1. AK122591 mRNA. Translation: BAC56932.2. Different initiation. AB007919 mRNA. Translation: BAA32295.3. Different initiation. AL139246 Genomic DNA. Translation: CAX30815.1. BC019679 mRNA. Translation: AAH19679.1. BC043358 mRNA. Translation: AAH43358.1. Frameshift. BC050037 mRNA. Translation: AAH50037.1. BC128207 mRNA. Translation: AAI28208.1. |
| IPI | IPI00384764. IPI00409676. IPI00654552. IPI00744887. IPI00873071. |
| RefSeq | NP_055453.2. NM_014638.2. |
| UniGene | Hs.170156. |
3D structure databases | |
| ProteinModelPortal | O75038. |
| SMR | O75038. Positions 39-915. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | O75038. |
PTM databases | |
| PhosphoSite | O75038. |
Proteomic databases | |
| PRIDE | O75038. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000378483; ENSP00000367744; ENSG00000149527. ENST00000378486; ENSP00000367747; ENSG00000149527. |
| GeneID | 9651. |
| KEGG | hsa:9651. |
| UCSC | uc001ajj.1. human. uc009vle.1. human. |
Organism-specific databases | |
| CTD | 9651. |
| GeneCards | GC01P002397. |
| H-InvDB | HIX0000057. |
| HGNC | HGNC:29037. PLCH2. |
| HPA | HPA003346. |
| MIM | 612836. gene. |
| neXtProt | NX_O75038. |
| PharmGKB | PA134914471. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG14209. |
| GeneTree | ENSGT00600000084266. |
| HOVERGEN | HBG107105. |
| InParanoid | O75038. |
| OMA | TEVASSW. |
| PhylomeDB | O75038. |
Gene expression databases | |
| ArrayExpress | O75038. |
| Bgee | O75038. |
| CleanEx | HS_PLCH2. |
| Genevestigator | O75038. |
| GermOnline | ENSG00000149527. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR018029. C2_membr_targeting. IPR011992. EF-hand-like_dom. IPR018247. EF_Hand_1_Ca_BS. IPR018249. EF_HAND_2. IPR002048. EF_hand_Ca-bd. IPR011993. PH_type. IPR001192. Pinositol_PLipase_C. IPR017946. PLC-like_Pdiesterase_TIM-brl. IPR001849. Pleckstrin_homology. IPR015359. PLipase_C_EF-hand-like. IPR000909. PLipase_C_PInositol-sp_X_dom. IPR001711. PLipase_C_Pinositol-sp_Y. [Graphical view] |
| Gene3D | G3DSA:1.10.238.10. EF-Hand_type. 2 hits. G3DSA:2.30.29.30. PH_type. 1 hit. G3DSA:3.20.20.190. PLC-like_Pdiesterase_TIM-brl. 2 hits. |
| Pfam | PF00168. C2. 1 hit. PF09279. efhand_like. 1 hit. PF00388. PI-PLC-X. 1 hit. PF00387. PI-PLC-Y. 1 hit. [Graphical view] |
| PRINTS | PR00390. PHPHLIPASEC. |
| SMART | SM00239. C2. 1 hit. SM00054. EFh. 2 hits. SM00233. PH. 1 hit. SM00148. PLCXc. 1 hit. SM00149. PLCYc. 1 hit. [Graphical view] |
| SUPFAM | SSF49562. C2_CaLB. 1 hit. SSF51695. PLC-like_Pdiesterase_TIM-brl. 1 hit. |
| PROSITE | PS50004. C2. 1 hit. PS00018. EF_HAND_1. 1 hit. PS50222. EF_HAND_2. 2 hits. PS50003. PH_DOMAIN. 1 hit. PS50007. PIPLC_X_DOMAIN. 1 hit. PS50008. PIPLC_Y_DOMAIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 36229. |
| SOURCE | Search... |
Entry information
| Entry name | PLCH2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O75038 Secondary accession number(s): A2VCM3 Q8WUS6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

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