Q9UKU0 (ACSL6_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 123.
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: 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) [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 | 697 AA. |
| Sequence status | Complete. |
| 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 fatty acid + CoA = AMP + diphosphate + an acyl-CoA. |
| Cofactor | Magnesium. |
| Subcellular location | Mitochondrion outer membrane; Single-pass type III membrane protein By similarity. Peroxisome membrane; Single-pass type III membrane protein By similarity. Microsome membrane; Single-pass type III membrane protein By similarity. Endoplasmic reticulum membrane; Single-pass type III membrane protein By similarity. |
| Tissue specificity | Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. Ref.1 |
| 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. |
| Sequence caution | The sequence BAA74860.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 8 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 4 (identifier: Q9UKU0-4) 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 1 (identifier: Q9UKU0-1) Also known as: Long; v2; The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MLTFFLVSGGSLWLFVEFVLSLLEKM | ||||||
| Isoform 2 (identifier: Q9UKU0-2) Also known as: Short; The sequence of this isoform differs from the canonical sequence as follows: 306-330: KVIFPRQDDVLISFLPLAHMFERVI → SQWAPTCADVHISYLPLAHMFERMV 653-697: VKAIHIHSDMFSVQNGLLTPTLKAKRPELREYFKKQIEELYSISM → DLPQCLIQIKVFSKY | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9UKU0-3) The sequence of this isoform differs from the canonical sequence as follows: 306-330: KVIFPRQDDVLISFLPLAHMFERVI → SQWAPTCADVHISYLPLAHMFERMV | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q9UKU0-5) Also known as: v4; The sequence of this isoform differs from the canonical sequence as follows: 306-312: Missing. | ||||||
| Isoform 6 (identifier: Q9UKU0-6) Also known as: v5; The sequence of this isoform differs from the canonical sequence as follows: 192-192: T → TGLSCQEGASATASTQ | ||||||
| Isoform 7 (identifier: Q9UKU0-7) Also known as: v3; The sequence of this isoform differs from the canonical sequence as follows: 31-65: Missing. 306-345: Missing. | ||||||
| Isoform 8 (identifier: Q9UKU0-8) Also known as: v1; The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MLTFFLVSGGSLWLFVEFVLSLLEKM 306-330: KVIFPRQDDVLISFLPLAHMFERVI → SQWAPTCADVHISYLPLAHMFERMV | ||||||
| Note: 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 | Helical; Signal-anchor for type III membrane protein; Potential | ||||||
| Topological domain | 46 – 697 | 652 | Cytoplasmic Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 | 1 | M → MLTFFLVSGGSLWLFVEFVL SLLEKM in isoform 1 and isoform 8. | VSP_037819 | |||||
| Alternative sequence | 31 – 65 | 35 | Missing in isoform 7. | VSP_037820 | |||||
| Alternative sequence | 192 | 1 | T → TGLSCQEGASATASTQ in isoform 6. | VSP_037821 | |||||
| Alternative sequence | 306 – 345 | 40 | Missing in isoform 7. | VSP_037822 | |||||
| Alternative sequence | 306 – 330 | 25 | KVIFP…FERVI → SQWAPTCADVHISYLPLAHM FERMV in isoform 3, isoform 2 and isoform 8. | VSP_021024 | |||||
| Alternative sequence | 306 – 312 | 7 | Missing in isoform 5. | VSP_037823 | |||||
| Alternative sequence | 653 – 697 | 45 | VKAIH…YSISM → DLPQCLIQIKVFSKY in isoform 2. | 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 | 257 | 1 | E → A in AAH47453. Ref.7 | ||||||
| Sequence conflict | 356 | 1 | K → R in AAZ30714. Ref.3 | ||||||
| Sequence conflict | 696 | 1 | S → P in AAD47199. Ref.1 | ||||||
| Sequence conflict | 696 | 1 | S → P in AAZ30714. Ref.3 | ||||||
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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), CHROMOSOMAL TRANSLOCATION WITH ETV6. Tissue: Bone marrow. |
| [3] | "Multiple erythroid isoforms of human long-chain acyl-CoA synthetases are produced by switch of the fatty acid gate domains." Soupene E., Kuypers F.A. BMC Mol. Biol. 7:21-21(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6), NUCLEOTIDE SEQUENCE [MRNA] OF 253-374 (ISOFORM 5), ALTERNATIVE SPLICING (ISOFORM 8). |
| [4] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [5] | "Full-length cDNA libraries and normalization." Li W.B., Gruber C., Jessee J., Polayes D. Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Brain. |
| [6] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 8). |
| [7] | "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 7). Tissue: Testis. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF129166 mRNA. Translation: AAD47199.1. AF099740 mRNA. Translation: AAD17853.1. DQ083030 mRNA. Translation: AAZ30713.1. DQ083031 mRNA. Translation: AAZ30714.1. AB020644 mRNA. Translation: BAA74860.1. Different initiation. CR606980 mRNA. No translation available. AC034228 Genomic DNA. No translation available. BC047453 mRNA. Translation: AAH47453.1. |
| IPI | IPI00296333. IPI00384110. IPI00657816. IPI00657883. IPI00658107. IPI00874262. IPI00879209. IPI00939479. |
| RefSeq | NP_001009185.1. NM_001009185.2. NP_001192176.1. NM_001205247.1. NP_001192177.1. NM_001205248.1. NP_001192179.1. NM_001205250.1. NP_001192180.1. NM_001205251.1. NP_056071.2. NM_015256.3. |
| UniGene | Hs.14945. |
3D structure databases | |
| ProteinModelPortal | Q9UKU0. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9UKU0. 1 interaction. |
| STRING | 9606.ENSP00000296869. |
PTM databases | |
| PhosphoSite | Q9UKU0. |
Polymorphism databases | |
| DMDM | 146322303. |
Proteomic databases | |
| PaxDb | Q9UKU0. |
| PRIDE | Q9UKU0. |
Protocols and materials databases | |
| DNASU | 23305. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000296869; ENSP00000296869; ENSG00000164398. ENST00000357096; ENSP00000349608; ENSG00000164398. ENST00000379240; ENSP00000368542; ENSG00000164398. ENST00000379244; ENSP00000368546; ENSG00000164398. ENST00000379249; ENSP00000368551; ENSG00000164398. ENST00000379255; ENSP00000368557; ENSG00000164398. ENST00000379264; ENSP00000368566; ENSG00000164398. ENST00000379272; ENSP00000368574; ENSG00000164398. ENST00000413683; ENSP00000415140; ENSG00000164398. ENST00000543479; ENSP00000442124; ENSG00000164398. |
| GeneID | 23305. |
| KEGG | hsa:23305. |
| UCSC | uc003kvx.2. human. uc003kvy.2. human. uc003kvz.2. human. uc010jdn.2. human. uc010jdo.2. human. |
Organism-specific databases | |
| CTD | 23305. |
| GeneCards | GC05M131146. |
| HGNC | HGNC:16496. ACSL6. |
| HPA | HPA040470. |
| MIM | 604443. gene. |
| neXtProt | NX_Q9UKU0. |
| PharmGKB | PA27970. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1022. |
| HOGENOM | HOG000159459. |
| HOVERGEN | HBG050452. |
| KO | K01897. |
| OMA | MFERMVQ. |
Enzyme and pathway databases | |
| BioCyc | MetaCyc:HS15193-MONOMER. |
| BRENDA | 6.2.1.3. 2681. |
| Reactome | REACT_111217. Metabolism. |
Gene expression databases | |
| ArrayExpress | Q9UKU0. |
| Bgee | Q9UKU0. |
| CleanEx | HS_ACSL6. |
| Genevestigator | Q9UKU0. |
| GermOnline | ENSG00000164398. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR020845. AMP-binding_CS. IPR000873. AMP-dep_Synth/Lig. [Graphical view] |
| Pfam | PF00501. AMP-binding. 1 hit. [Graphical view] |
| PROSITE | PS00455. AMP_BINDING. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 23305. |
| NextBio | 45153. |
| SOURCE | Search... |
Entry information
| Entry name | ACSL6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UKU0 Secondary accession number(s): O94924 Q86TN7 | ||||||||
| 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 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 |

Clusters with
