Reviewed,
UniProtKB/Swiss-Prot Q9NUB1 (ACS2L_HUMAN)
Last modified
July 7, 2009.
Version 68.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Acetyl-coenzyme A synthetase 2-like, mitochondrial EC=6.2.1.1 Alternative name(s): Acetate--CoA ligase 2 Acetyl-CoA synthetase 2 Acyl-CoA synthetase short-chain family member 1 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete 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 | 689 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 | Converts acetate to acetyl-CoA so that it can be used for oxidation through the tricarboxylic cycle to produce ATP and CO2 By similarity. |
| Catalytic activity | ATP + acetate + CoA = AMP + diphosphate + acetyl-CoA. |
| Subcellular location | Mitochondrion matrix By similarity. |
| Sequence similarities | Belongs to the ATP-dependent AMP-binding enzyme family. |
| Sequence caution | The sequence BAC03853.1 differs from that shown. Reason: Frameshift at position 250. The sequence BAC03853.1 differs from that shown. Reason: Miscellaneous discrepancy. Sequencing errors. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Mitochondrion |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transit peptide |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | Ligase |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | metabolic process Inferred from electronic annotation. Source: InterPro |
| Cellular component | mitochondrial matrix Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | AMP binding Inferred from electronic annotation. Source: InterPro ATP bindingInferred from electronic annotation. Source: UniProtKB-KW acetate-CoA ligase activityInferred from electronic annotation. Source: EC |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9NUB1-1) 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: Q9NUB1-2) The sequence of this isoform differs from the canonical sequence as follows: 446-447: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – 36 | 36 | Mitochondrion Potential | ||||||
| Chain | 37 – 689 | 653 | Acetyl-coenzyme A synthetase 2-like, mitochondrial | PRO_0000000596 | |||||
Regions | |||||||||
| Compositional bias | 45 – 53 | 9 | Poly-Ala | ||||||
Natural variations | |||||||||
| Alternative sequence | 446 – 447 | 2 | Missing in isoform 2. | VSP_007249 | |||||
| Natural variant | 488 | 1 | V → M: dbSNP rs6050249. Ref.2 | VAR_048184 | |||||
Experimental info | |||||||||
| Sequence conflict | 277 | 1 | V → M in AAH39261. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. Rogers J.Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [2] | "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] (ISOFORMS 1 AND 2), VARIANT MET-488. Tissue: Brain and Testis. |
| [3] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 169-689 (ISOFORM 1). Tissue: Placenta and Tongue. |
| [4] | "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O. DNA Res. 8:85-95(2001) [PubMed: 11347906] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 336-689 (ISOFORM 1). Tissue: Brain. |
| [5] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION. |
| [6] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| AL035661, AL080312 Genomic DNA. Translation: CAI21828.1. AL080312, AL035661 Genomic DNA. Translation: CAI18917.1. BC039261 mRNA. Translation: AAH39261.1. BC044588 mRNA. Translation: AAH44588.1. AK027817 mRNA. Translation: BAB55390.1. Different initiation. AK092295 mRNA. Translation: BAC03853.1. Sequence problems. AB058749 mRNA. Translation: BAB47475.1. | |
| IPI | IPI00216932. IPI00248961. |
| RefSeq | NP_115890.2. |
| UniGene | Hs.529353 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1PG4 based on UniProtKB Q8ZKF6. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q9NUB1. |
Proteomic databases | |
| PRIDE | Q9NUB1. |
Genome annotation databases | |
| Ensembl | ENSG00000154930. Homo sapiens. [Contig view] |
| GeneID | 84532. |
| KEGG | hsa:84532. |
| NMPDR | fig|9606.3.peg.19997. |
| UCSC | uc002wub.1. human. uc002wuc.1. human. |
Organism-specific databases | |
| GeneCards | GC20M024935. |
| H-InvDB | HIX0015699. |
| HGNC | HGNC:16091. ACSS1. |
| PharmGKB | PA24430. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q9NUB1. |
| OMA | Q9NUB1. NCLDQHV. |
Enzyme and pathway databases | |
| BRENDA | 6.2.1.1. 247. |
Gene expression databases | |
| ArrayExpress | Q9NUB1. |
| Bgee | Q9NUB1. |
| CleanEx | HS_ACSS1. |
| GermOnline | ENSG00000154930. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR011904. Ac_CoA_lig_AcsA. IPR000873. AMP-dep_Synth/Lig. [Graphical view] |
| Pfam | PF00501. AMP-binding. 1 hit. [Graphical view] |
| TIGRFAMs | TIGR02188. Ac_CoA_lig_AcsA. 1 hit. |
| PROSITE | PS00455. AMP_BINDING. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00131. Adenosine monophosphate. DB00171. Adenosine triphosphate. |
| NextBio | 74375. |
Entry information
| Entry name | ACS2L_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NUB1 Secondary accession number(s): Q5TF42 Q9NU28 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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 |
| SIMILARITY comments Index of protein domains and families |

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