Q96CM8 (ACSF2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 80.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Acyl-CoA synthetase family member 2, mitochondrial EC=6.2.1.- | ||||
| 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 | 615 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 | Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA. Has some preference toward medium-chain substrates. Plays a role in adipodyte differentiation. Ref.5 Ref.6 |
| Subcellular location | Mitochondrion Potential. |
| Induction | By PPARG. Ref.5 |
| Sequence similarities | Belongs to the ATP-dependent AMP-binding enzyme family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Fatty acid metabolism Lipid metabolism |
| Cellular component | Mitochondrion |
| Coding sequence diversity | Polymorphism |
| Domain | Transit peptide |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | Ligase |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | fatty acid metabolic process Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ligase activityInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – 41 | 41 | Mitochondrion Potential | ||||||
| Chain | 42 – 615 | 574 | Acyl-CoA synthetase family member 2, mitochondrial | PRO_0000315793 | |||||
Regions | |||||||||
| Nucleotide binding | 263 – 271 | 9 | ATP By similarity | ||||||
Sites | |||||||||
| Binding site | 493 | 1 | ATP By similarity | ||||||
| Binding site | 508 | 1 | ATP By similarity | ||||||
| Binding site | 599 | 1 | ATP By similarity | ||||||
Natural variations | |||||||||
| Natural variant | 75 | 1 | G → V. Ref.4 Corresponds to variant rs17856448 [ dbSNP | Ensembl ]. | VAR_038304 | |||||
| Natural variant | 316 | 1 | V → M. Corresponds to variant rs3744523 [ dbSNP | Ensembl ]. | VAR_038305 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [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]. Tissue: Adipose tissue. |
| [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 (SEP-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], VARIANT VAL-75. Tissue: Kidney and Skin. |
| [5] | "Identification of novel PPARgamma target genes in primary human adipocytes." Perera R.J., Marcusson E.G., Koo S., Kang X., Kim Y., White N., Dean N.M. Gene 369:90-99(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INDUCTION. |
| [6] | "Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome." Watkins P.A., Maiguel D., Jia Z., Pevsner J. J. Lipid Res. 48:2736-2750(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, ENZYME ACTIVITY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY358660 mRNA. Translation: AAQ89023.1. AK024573 mRNA. Translation: BAB14930.1. CH471109 Genomic DNA. Translation: EAW94612.1. BC012053 mRNA. Translation: AAH12053.1. BC014123 mRNA. Translation: AAH14123.1. |
| IPI | IPI00304071. |
| RefSeq | NP_079425.3. NM_025149.4. |
| UniGene | Hs.288959. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1LCI based on UniProtKB P08659. |
| ProteinModelPortal | Q96CM8. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96CM8. 1 interaction. |
| STRING | 9606.ENSP00000300441. |
Polymorphism databases | |
| DMDM | 166198367. |
Proteomic databases | |
| PaxDb | Q96CM8. |
| PeptideAtlas | Q96CM8. |
| PRIDE | Q96CM8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000300441; ENSP00000300441; ENSG00000167107. |
| GeneID | 80221. |
| KEGG | hsa:80221. |
| UCSC | uc002iqu.2. human. |
Organism-specific databases | |
| CTD | 80221. |
| GeneCards | GC17P048503. |
| HGNC | HGNC:26101. ACSF2. |
| HPA | HPA024693. |
| MIM | 610465. gene. |
| neXtProt | NX_Q96CM8. |
| PharmGKB | PA162375338. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0318. |
| HOGENOM | HOG000229999. |
| HOVERGEN | HBG103408. |
| InParanoid | Q96CM8. |
| KO | K00666. |
| OrthoDB | EOG4WSW9C. |
| PhylomeDB | Q96CM8. |
Gene expression databases | |
| ArrayExpress | Q96CM8. |
| Bgee | Q96CM8. |
| CleanEx | HS_ACSF2. |
| Genevestigator | Q96CM8. |
Family and domain databases | |
| InterPro | IPR020845. AMP-binding_CS. IPR000873. AMP-dep_Synth/Lig. IPR025110. DUF4009. [Graphical view] |
| Pfam | PF00501. AMP-binding. 1 hit. PF13193. DUF4009. 1 hit. [Graphical view] |
| PROSITE | PS00455. AMP_BINDING. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ACSF2. human. |
| GenomeRNAi | 80221. |
| NextBio | 70634. |
| SOURCE | Search... |
Entry information
| Entry name | ACSF2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96CM8 Secondary accession number(s): Q9H7G2 | ||||||||
| 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 17 Human chromosome 17: 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
