Q15147 (PLCB4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 139.
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 beta-4 EC=3.1.4.11 Alternative name(s): Phosphoinositide phospholipase C-beta-4 Phospholipase C-beta-4 Short name=PLC-beta-4 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1175 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein 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 form has a role in retina signal transduction. |
| Catalytic activity | 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol. |
| Cofactor | Calcium. |
| Tissue specificity | Preferentially expressed in the retina. |
| Involvement in disease | Auriculocondylar syndrome 2 (ARCND2) [MIM:614669]: An autosomal dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. |
| Sequence similarities | Contains 1 C2 domain. Contains 1 PI-PLC X-box domain. Contains 1 PI-PLC Y-box domain. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform 2 (identifier: Q15147-1) 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 1 (identifier: Q15147-2) The sequence of this isoform differs from the canonical sequence as follows: 1-153: Missing. 154-167: LAFMTNTNGKIPVR → MNNNWNVCFFLFCP | ||||||
| Isoform 3 (identifier: Q15147-4) The sequence of this isoform differs from the canonical sequence as follows: 1154-1175: AKEMQQMVKLEAEMDRRPATVV → LLKSCHAVSQTQGEGDAADGEIGSRDGPQTSNSSMKLQNAN | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed Ref.4 | ||||||
| Chain | 2 – 1175 | 1174 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 | PRO_0000088495 | |||||
Regions | |||||||||
| Domain | 313 – 463 | 151 | PI-PLC X-box | ||||||
| Domain | 565 – 681 | 117 | PI-PLC Y-box | ||||||
| Domain | 688 – 786 | 99 | C2 | ||||||
Sites | |||||||||
| Active site | 328 | 1 | By similarity | ||||||
| Active site | 375 | 1 | By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylalanine Ref.4 | ||||||
| Modified residue | 886 | 1 | Phosphothreonine Ref.5 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 153 | 153 | Missing in isoform 1. | VSP_004721 | |||||
| Alternative sequence | 154 – 167 | 14 | LAFMT…KIPVR → MNNNWNVCFFLFCP in isoform 1. | VSP_004722 | |||||
| Alternative sequence | 1154 – 1175 | 22 | AKEMQ…PATVV → LLKSCHAVSQTQGEGDAADG EIGSRDGPQTSNSSMKLQNA N in isoform 3. | VSP_037818 | |||||
| Natural variant | 21 | 1 | A → T. Ref.3 Corresponds to variant rs6077510 [ dbSNP | Ensembl ]. | VAR_056694 | |||||
| Natural variant | 329 | 1 | N → T in ARCND2. Ref.6 | VAR_068559 | |||||
| Natural variant | 621 | 1 | R → C in ARCND2. Ref.6 | VAR_068560 | |||||
| Natural variant | 621 | 1 | R → H in ARCND2. Ref.6 | VAR_068561 | |||||
| Natural variant | 623 | 1 | Y → C in ARCND2. Ref.6 | VAR_068562 | |||||
| Natural variant | 650 | 1 | N → H in ARCND2. Ref.6 | VAR_068563 | |||||
| Natural variant | 710 | 1 | G → S. Corresponds to variant rs6118603 [ dbSNP | Ensembl ]. | VAR_056695 | |||||
Experimental info | |||||||||
| Sequence conflict | 447 | 1 | A → P in AAB02027. Ref.1 | ||||||
| Sequence conflict | 757 | 1 | F → L in AAB02027. Ref.1 | ||||||
| Sequence conflict | 787 | 1 | L → P in AAB02027. Ref.1 | ||||||
| Sequence conflict | 840 | 1 | K → T in AAB02027. Ref.1 | ||||||
| Sequence conflict | 902 | 1 | A → P in AAB02027. Ref.1 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | L41349 mRNA. Translation: AAB02027.1. AL031652, AL023805 Genomic DNA. Translation: CAI42213.1. AL023805, AL031652 Genomic DNA. Translation: CAI43087.1. AL031652, AL023805 Genomic DNA. Translation: CAI42218.2. AL023805, AL031652 Genomic DNA. Translation: CAI43092.2. BC117458 mRNA. Translation: AAI17459.1. BC143868 mRNA. Translation: AAI43869.1. |
| IPI | IPI00014897. IPI00783004. IPI00883983. |
| RefSeq | NP_000924.3. NM_000933.3. NP_001166117.1. NM_001172646.1. NP_877949.2. NM_182797.2. |
| UniGene | Hs.472101. |
3D structure databases | |
| ProteinModelPortal | Q15147. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q15147. 1 interaction. |
PTM databases | |
| PhosphoSite | Q15147. |
Polymorphism databases | |
| DMDM | 17433757. |
Proteomic databases | |
| PaxDb | Q15147. |
| PeptideAtlas | Q5JYT3. |
| PRIDE | Q15147. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000278655; ENSP00000278655; ENSG00000101333. ENST00000334005; ENSP00000334105; ENSG00000101333. ENST00000378493; ENSP00000367754; ENSG00000101333. ENST00000378501; ENSP00000367762; ENSG00000101333. |
| GeneID | 5332. |
| KEGG | hsa:5332. |
| UCSC | uc002wnh.3. human. uc010gbw.1. human. uc021wam.1. human. |
Organism-specific databases | |
| CTD | 5332. |
| GeneCards | GC20P009024. |
| HGNC | HGNC:9059. PLCB4. |
| MIM | 600810. gene. 614669. phenotype. |
| neXtProt | NX_Q15147. |
| Orphanet | 137888. Auriculo-condylar syndrome. |
| PharmGKB | PA33387. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG149692. |
| HOVERGEN | HBG053609. |
| KO | K05858. |
| OMA | VPKDPKI. |
| OrthoDB | EOG4K3KVF. |
Enzyme and pathway databases | |
| Reactome | REACT_111102. Signal Transduction. REACT_111217. Metabolism. |
Gene expression databases | |
| ArrayExpress | Q15147. |
| Bgee | Q15147. |
| Genevestigator | Q15147. |
| GermOnline | ENSG00000101333. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.238.10. 1 hit. 2.30.29.30. 1 hit. 3.20.20.190. 2 hits. |
| InterPro | IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR018029. C2_membr_targeting. IPR011992. EF-hand-like_dom. IPR011993. PH_like_dom. IPR001192. Pinositol_PLipase_C. IPR016280. PLC-beta. IPR009535. PLC-beta_CS. IPR017946. PLC-like_Pdiesterase_TIM-brl. IPR015359. PLipase_C_EF-hand-like. IPR000909. PLipase_C_PInositol-sp_X_dom. IPR001711. PLipase_C_Pinositol-sp_Y. [Graphical view] |
| PANTHER | PTHR10336. PTHR10336. 1 hit. |
| Pfam | PF00168. C2. 1 hit. PF06631. DUF1154. 1 hit. PF09279. efhand_like. 1 hit. PF00388. PI-PLC-X. 1 hit. PF00387. PI-PLC-Y. 1 hit. [Graphical view] |
| PIRSF | PIRSF000956. PLC-beta. 1 hit. |
| PRINTS | PR00390. PHPHLIPASEC. |
| SMART | SM00239. C2. 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. PS50007. PIPLC_X_DOMAIN. 1 hit. PS50008. PIPLC_Y_DOMAIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChEMBL | CHEMBL2751. |
| ChiTaRS | PLCB4. human. |
| GenomeRNAi | 5332. |
| NextBio | 20648. |
| SOURCE | Search... |
Entry information
| Entry name | PLCB4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q15147 Secondary accession number(s): B7ZLK6 Q9UJQ2 | ||||||||
| 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 20 Human chromosome 20: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
