Q8NEL9 (DDHD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 84.
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: Phospholipase DDHD1 EC=3.1.1.- Alternative name(s): DDHD domain-containing protein 1 Phosphatidic acid-preferring phospholipase A1 homolog Short name=PA-PLA1 | ||||
| Gene names |
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| 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 | 900 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity. Ref.9 |
| Subunit structure | Forms homooligomers and, to a much smaller extent, heterooligomers with DDHD2. Ref.9 |
| Subcellular location | |
| Tissue specificity | Highly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in cerebellum in fetal brain. Ref.6 |
| Sequence similarities | Belongs to the PA-PLA1 family. Contains 1 DDHD domain. |
| Sequence caution | The sequence BAB21796.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAB71679.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Lipid degradation Lipid metabolism |
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing |
| Molecular function | Hydrolase |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | lipid catabolic process Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | hydrolase activity Inferred from electronic annotation. Source: UniProtKB-KW metal ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NEL9-1) 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: Q8NEL9-2) The sequence of this isoform differs from the canonical sequence as follows: 813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L | ||||||
| Isoform 3 (identifier: Q8NEL9-3) The sequence of this isoform differs from the canonical sequence as follows: 1-418: Missing. 813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q8NEL9-4) The sequence of this isoform differs from the canonical sequence as follows: 337-337: D → DGSGINYS 813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 900 | 900 | Phospholipase DDHD1 | PRO_0000079845 | |||||
Regions | |||||||||
| Domain | 611 – 886 | 276 | DDHD | ||||||
Sites | |||||||||
| Active site | 537 | 1 | By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 418 | 418 | Missing in isoform 3. | VSP_008628 | |||||
| Alternative sequence | 337 | 1 | D → DGSGINYS in isoform 4. | VSP_045340 | |||||
| Alternative sequence | 813 – 841 | 29 | YFRLQ…DNALV → L in isoform 2, isoform 3 and isoform 4. | VSP_008629 | |||||
Experimental info | |||||||||
| Mutagenesis | 590 | 1 | L → S: No effect on homooligomer formation; when associated with S-593. Ref.9 | ||||||
| Mutagenesis | 593 | 1 | I → S: No effect on homooligomer formation; when associated with S-590. Ref.9 | ||||||
| Mutagenesis | 662 | 1 | D → A: Markedly decreased enzymatic activity. Ref.9 | ||||||
| Mutagenesis | 848 | 1 | D → A: Markedly decreased enzymatic activity. Ref.9 | ||||||
| Mutagenesis | 867 | 1 | H → A: Markedly decreased enzymatic activity. Ref.9 | ||||||
| Mutagenesis | 875 | 1 | D → A: No effect on enzymatic activity. Ref.9 | ||||||
| Sequence conflict | 109 | 1 | G → GGG in AK125372. Ref.2 | ||||||
| Sequence conflict | 675 | 1 | H → R in AAH30703. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O. DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 357-900 (ISOFORMS 2/4). Tissue: Fetal brain and Testis. |
| [3] | "The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. Weissenbach J.Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Brain and Testis. |
| [6] | "Cloning of a phosphatidic acid-preferring phospholipase A1 from bovine testis." Higgs H.N., Han M.H., Johnson G.E., Glomset J.A. J. Biol. Chem. 273:5468-5477(1998) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [7] | "p125 is localized in endoplasmic reticulum exit sites and involved in their organization." Shimoi W., Ezawa I., Nakamoto K., Uesaki S., Gabreski G., Aridor M., Yamamoto A., Nagahama M., Tagaya M., Tani K. J. Biol. Chem. 280:10141-10148(2005) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [8] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [9] | "Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p." Inoue H., Baba T., Sato S., Ohtsuki R., Takemori A., Watanabe T., Tagaya M., Tani K. Biochim. Biophys. Acta 1823:930-939(2012) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBUNIT, HOMOOLIGOMER FORMATION, INTERACTION WITH DDHD2, MUTAGENESIS OF LEU-590; ILE-593; ASP-662; ASP-848; HIS-867 AND ASP-875. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB051492 mRNA. Translation: BAB21796.1. Different initiation. AK058137 mRNA. Translation: BAB71679.1. Different initiation. AK125372 mRNA. No translation available. AL352979 Genomic DNA. No translation available. AL356020 Genomic DNA. No translation available. CH471061 Genomic DNA. Translation: EAW80623.1. BC018014 mRNA. Translation: AAH18014.1. BC030703 mRNA. Translation: AAH30703.1. |
| IPI | IPI00376941. IPI00794129. IPI00956137. |
| RefSeq | NP_001153619.1. NM_001160147.1. NP_001153620.1. NM_001160148.1. NP_085140.2. NM_030637.2. |
| UniGene | Hs.125525. |
3D structure databases | |
| ProteinModelPortal | Q8NEL9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000350401. |
PTM databases | |
| PhosphoSite | Q8NEL9. |
Polymorphism databases | |
| DMDM | 37999716. |
Proteomic databases | |
| PaxDb | Q8NEL9. |
| PRIDE | Q8NEL9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000323669; ENSP00000327104; ENSG00000100523. ENST00000357758; ENSP00000350401; ENSG00000100523. ENST00000395606; ENSP00000378970; ENSG00000100523. |
| GeneID | 80821. |
| KEGG | hsa:80821. |
| UCSC | uc001xag.3. human. uc001xah.3. human. uc001xai.3. human. |
Organism-specific databases | |
| CTD | 80821. |
| GeneCards | GC14M053510. |
| HGNC | HGNC:19714. DDHD1. |
| HPA | HPA049870. |
| MIM | 614603. gene. |
| neXtProt | NX_Q8NEL9. |
| PharmGKB | PA134861440. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG285690. |
| HOGENOM | HOG000007412. |
| HOVERGEN | HBG059037. |
| InParanoid | Q8NEL9. |
| KO | K13619. |
| OMA | LDPCLSD. |
| PhylomeDB | Q8NEL9. |
Gene expression databases | |
| ArrayExpress | Q8NEL9. |
| Bgee | Q8NEL9. |
| CleanEx | HS_DDHD1. |
| Genevestigator | Q8NEL9. |
| GermOnline | ENSG00000100523. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004177. DDHD. [Graphical view] |
| Pfam | PF02862. DDHD. 1 hit. [Graphical view] |
| PROSITE | PS51043. DDHD. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 80821. |
| NextBio | 71223. |
| SOURCE | Search... |
Entry information
| Entry name | DDHD1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NEL9 Secondary accession number(s): G5E9D1 Q9C0F8 | ||||||||
| 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 14 Human chromosome 14: 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 |

Clusters with
