Reviewed,
UniProtKB/Swiss-Prot Q9UKU0 (ACSL6_HUMAN)
Last modified
November 25, 2008.
Version 75.
History...
Clusters with 100%,
90%,
50% identity |
 Documents (3) |
 Third-party data |
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Names and origin
| Protein names | Recommended name: Long-chain-fatty-acid--CoA ligase 6 EC=6.2.1.3 Alternative name(s): Long-chain acyl-CoA synthetase 6 Short name=LACS 6 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 697 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilized exclusively for the synthesis of the brain lipid. |
| Catalytic activity | ATP + a long-chain carboxylic acid + CoA = AMP + diphosphate + an acyl-CoA. |
| Cofactor | Magnesium. |
| Subcellular location | Mitochondrion outer membrane; Single-pass type III membrane proteinBy similarity. Peroxisome membrane; Single-pass type III membrane proteinBy similarity. Microsome membrane; Single-pass type III membrane proteinBy similarity. Endoplasmic reticulum membrane; Single-pass type III membrane proteinBy similarity. |
| Tissue specificity | Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, haemopoietic stem cells from cord blood, bone marrow, and brain. |
| Developmental stage | Expression is low at earlier stages of erythroid development but is very high in reticulocytes. |
| Involvement in disease | A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5;12)(q31;p13) with ETV6. A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6. A chromosomal aberration involving ACSL6 may be a cause of acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ETV6. |
| Sequence similarities | Belongs to the ATP-dependent AMP-binding enzyme family. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform Long (identifier: Q9UKU0-1) 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 Short (identifier: Q9UKU0-2) The sequence of this isoform differs from the canonical sequence as follows: 653-697: VKAIHIHSDMFSVQNGLLTPTLKAKRPELREYFKKQIEELYSISM → DLPQCLIQIKVFSKY | ||||||
| Notes: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9UKU0-3) The sequence of this isoform differs from the canonical sequence as follows: 306-319: KVIFPRQDDVLISF → SQWAPTCADVHISY | ||||||
| Notes: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 697 | 697 | Long-chain-fatty-acid--CoA ligase 6 | PRO_0000193115 | |||||
Regions | |||||||||
| Transmembrane | 25 – 45 | 21 | Signal-anchor for type III membrane protein Potential | ||||||
| Topological domain | 46 – 697 | 652 | Cytoplasmic Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 306 – 319 | 14 | KVIFP…VLISF → SQWAPTCADVHISY in isoform 3. | VSP_021024 | |||||
| Alternative sequence | 653 – 697 | 45 | VKAIH…YSISM → DLPQCLIQIKVFSKY in isoform Short. | VSP_000241 | |||||
Experimental info | |||||||||
| Sequence conflict | 19 | 1 | G → E in AAD47199. Ref.1 | ||||||
| Sequence conflict | 46 | 1 | H → Q in AAD47199. Ref.1 | ||||||
| Sequence conflict | 329 – 330 | 2 | VI → MV in AAD47199. Ref.1 | ||||||
| Sequence conflict | 329 – 330 | 2 | VI → MV in AAD17853. Ref.2 | ||||||
| Sequence conflict | 696 | 1 | S → P in AAD47199. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification and molecular characterization of acyl-CoA synthetase in human red cells and erythroid precursor." Malhotra K.T., Malhotra K., Lubin B.H., Kuypers F.A. Biochem. J. 344:135-143(1999) [PubMed: 10548543] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY. |
| [2] | "Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13)." Yagasaki F., Jinnai I., Yoshida S., Yokoyama Y., Matsuda A., Kusumoto S., Kobayashi H., Terasaki H., Ohyashiki K., Asou N., Murohashi I., Bessho M., Hirashima K. Genes Chromosomes Cancer 26:192-202(1999) [PubMed: 10502316] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT), CHROMOSOMAL TRANSLOCATION WITH ETV6. Tissue: Bone marrow. |
| [3] | "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:355-364(1998) [PubMed: 10048485] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG). Tissue: Brain. |
| [4] | "The DNA sequence and comparative analysis of human chromosome 5." Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.  Rubin E.M.Nature 431:268-274(2004) [PubMed: 15372022] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF129166 mRNA. Translation: AAD47199.1. AF099740 mRNA. Translation: AAD17853.1. AB020644 mRNA. Translation: BAA74860.1. Different initiation. AC034228 Genomic DNA. No translation available. | |
| RefSeq | NP_001009185.1. NP_056071.2. |
| UniGene | Hs.14945 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1LCI based on UniProtKB P08659. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q9UKU0. |
Genome annotation databases | |
| Ensembl | ENSG00000164398. Homo sapiens. [Contig view] |
| GeneID | 23305. |
| KEGG | hsa:23305. |
Organism-specific databases | |
| H-InvDB | HIX0005151. |
| HGNC | HGNC:16496. ACSL6. |
| MIM | 604443. gene. |
| PharmGKB | PA27970. |
| HUGE | Search... |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOVERGEN | Q9UKU0. |
Gene expression databases | |
| ArrayExpress | Q9UKU0. |
| CleanEx | HS_ACSL6. |
| GermOnline | ENSG00000164398. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000873. AMP-dep_Synth/Lig. [Graphical view] |
| Pfam | PF00501. AMP-binding. 2 hits. [Graphical view] |
| PRINTS | PR00154. AMPBINDING. |
| PROSITE | PS00455. AMP_BINDING. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 45153. |
| SOURCE | Search... |
Entry information
| Entry name | ACSL6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UKU0 Secondary accession number(s): O94924, O95829 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 5 Human chromosome 5: 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 |
