Q9NVF9 (EKI2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 98.
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: Ethanolamine kinase 2 Short name=EKI 2 EC=2.7.1.82 Alternative name(s): Ethanolamine kinase-like protein | ||||||
| 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 | 386 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Highly specific for ethanolamine phosphorylation. Does not have choline kinase activity By similarity. |
| Catalytic activity | ATP + ethanolamine = ADP + O-phosphoethanolamine. |
| Pathway | |
| Tissue specificity | Expressed in kidney, liver, ovary, testis and prostate. Ref.6 |
| Sequence similarities | Belongs to the choline/ethanolamine kinase family. |
| Sequence caution | The sequence BAH13637.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9NVF9-1) 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: Q9NVF9-2) The sequence of this isoform differs from the canonical sequence as follows: 339-386: ASHFFWALWA...PQASALEMPK → GPSCVSSTMT...HPEPVLHHRL | ||||||
| Isoform 3 (identifier: Q9NVF9-3) The sequence of this isoform differs from the canonical sequence as follows: 173-213: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 386 | 386 | Ethanolamine kinase 2 | PRO_0000206229 | |||||
Natural variations | |||||||||
| Alternative sequence | 173 – 213 | 41 | Missing in isoform 3. | VSP_039558 | |||||
| Alternative sequence | 339 – 386 | 48 | ASHFF…LEMPK → GPSCVSSTMTASLQCCRVGN RHGEIARLTLSGLFPGVSLL LGSLGPHPEPVLHHRL in isoform 2. | VSP_039098 | |||||
| Natural variant | 227 | 1 | R → Q. Ref.5 Corresponds to variant rs3737657 [ dbSNP | Ensembl ]. | VAR_022145 | |||||
Experimental info | |||||||||
| Sequence conflict | 10 | 1 | P → Q in BAA91793. Ref.1 | ||||||
| Sequence conflict | 148 | 1 | Q → R in BAH13637. Ref.1 | ||||||
| Sequence conflict | 241 | 1 | S → F in BAH13637. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 25-386 (ISOFORM 3). Tissue: Testis. |
| [2] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | Mural R.J., Istrail S., Sutton G.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]. |
| [4] | "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] (ISOFORM 1). Tissue: Uterus. |
| [5] | "Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas." Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S., Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S., Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A. Oncogene 23:5901-5911(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 25-386 (ISOFORM 1), VARIANT GLN-227. Tissue: Hepatoblastoma. |
| [6] | "Overexpression of a mammalian ethanolamine-specific kinase accelerates the CDP-ethanolamine pathway." Lykidis A., Wang J., Karim M.A., Jackowski S. J. Biol. Chem. 276:2174-2179(2001) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK001623 mRNA. Translation: BAA91793.1. AK302145 mRNA. Translation: BAH13637.1. Different initiation. AL592146 Genomic DNA. Translation: CAI16602.1. AL592146 Genomic DNA. Translation: CAI16603.1. CH471067 Genomic DNA. Translation: EAW91501.1. CH471067 Genomic DNA. Translation: EAW91502.1. BC010082 mRNA. Translation: AAH10082.1. AB073608 mRNA. Translation: BAD38645.1. |
| IPI | IPI00019374. IPI00514040. IPI00514943. |
| RefSeq | NP_060678.2. NM_018208.2. |
| UniGene | Hs.497469. |
3D structure databases | |
| ProteinModelPortal | Q9NVF9. |
| SMR | Q9NVF9. Positions 62-381. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9NVF9. 3 interactions. |
| STRING | 9606.ENSP00000356170. |
Polymorphism databases | |
| DMDM | 296439366. |
Proteomic databases | |
| PaxDb | Q9NVF9. |
| PRIDE | Q9NVF9. |
Protocols and materials databases | |
| DNASU | 55224. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000367201; ENSP00000356169; ENSG00000143845. ENST00000367202; ENSP00000356170; ENSG00000143845. |
| GeneID | 55224. |
| KEGG | hsa:55224. |
| UCSC | uc001han.4. human. uc001hao.4. human. uc010pqs.2. human. |
Organism-specific databases | |
| CTD | 55224. |
| GeneCards | GC01M204100. |
| H-InvDB | HIX0001494. |
| HGNC | HGNC:25575. ETNK2. |
| HPA | HPA057167. |
| MIM | 609859. gene. |
| neXtProt | NX_Q9NVF9. |
| PharmGKB | PA134888760. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0510. |
| HOGENOM | HOG000004856. |
| HOVERGEN | HBG018981. |
| InParanoid | Q9NVF9. |
| KO | K00894. |
| OMA | VPCFNIS. |
| OrthoDB | EOG4HT8S7. |
Enzyme and pathway databases | |
| Reactome | REACT_111217. Metabolism. |
| UniPathway | UPA00558; UER00741. |
Gene expression databases | |
| ArrayExpress | Q9NVF9. |
| Bgee | Q9NVF9. |
| CleanEx | HS_ETNK2. |
| Genevestigator | Q9NVF9. |
| GermOnline | ENSG00000143845. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR026712. Cho/Etha_kinase. IPR011009. Kinase-like_dom. [Graphical view] |
| PANTHER | PTHR22603. PTHR22603. 1 hit. |
| SUPFAM | SSF56112. Kinase_like. 1 hit. |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ETNK2. human. |
| GenomeRNAi | 55224. |
| NextBio | 59212. |
| SOURCE | Search... |
Entry information
| Entry name | EKI2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NVF9 Secondary accession number(s): B7Z7K1 Q96G05 | ||||||||
| 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 |
| 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 |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with
