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Gene id 23305
Gene Summary    Protein Summary    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol ACSL6   Gene   UCSC   Ensembl
Aliases ACS2, FACL6, LACS 6, LACS2, LACS5
Gene name acyl-CoA synthetase long chain family member 6
Alternate names long-chain-fatty-acid--CoA ligase 6, arachidonate--CoA ligase, fatty-acid-Coenzyme A ligase, long-chain 6, long fatty acyl-CoA synthetase 2,
Gene location 5q31.1 (132012067: 131949972)     Exons: 24     NC_000005.10
Gene summary(Entrez) The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes
OMIM 604443

Protein Summary

Protein general information Q9UKU0  

Name: Long chain fatty acid CoA ligase 6 (EC 6.2.1.3) (Arachidonate CoA ligase) (EC 6.2.1.15) (Long chain acyl CoA synthetase 6) (LACS 6)

Length: 697  Mass: 77752

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. {ECO

Sequence MQTQEILRILRLPELGDLGQFFRSLSATTLVSMGALAAILAYWFTHRPKALQPPCNLLMQSEEVEDSGGARRSVI
GSGPQLLTHYYDDARTMYQVFRRGLSISGNGPCLGFRKPKQPYQWLSYQEVADRAEFLGSGLLQHNCKACTDQFI
GVFAQNRPEWIIVELACYTYSMVVVPLYDTLGPGAIRYIINTADISTVIVDKPQKAVLLLEHVERKETPGLKLII
LMDPFEEALKERGQKCGVVIKSMQAVEDCGQENHQAPVPPQPDDLSIVCFTSGTTGNPKGAMLTHGNVVADFSGF
LKVTEKVIFPRQDDVLISFLPLAHMFERVIQSVVYCHGGRVGFFQGDIRLLSDDMKALCPTIFPVVPRLLNRMYD
KIFSQANTPLKRWLLEFAAKRKQAEVRSGIIRNDSIWDELFFNKIQASLGGCVRMIVTGAAPASPTVLGFLRAAL
GCQVYEGYGQTECTAGCTFTTPGDWTSGHVGAPLPCNHIKLVDVEELNYWACKGEGEICVRGPNVFKGYLKDPDR
TKEALDSDGWLHTGDIGKWLPAGTLKIIDRKKHIFKLAQGEYVAPEKIENIYIRSQPVAQIYVHGDSLKAFLVGI
VVPDPEVMPSWAQKRGIEGTYADLCTNKDLKKAILEDMVRLGKESGLHSFEQVKAIHIHSDMFSVQNGLLTPTLK
AKRPELREYFKKQIEELYSISM
Structural information
Interpro:  IPR020845  IPR000873  IPR042099  
Prosite:   PS00455
STRING:   ENSP00000368566
Other Databases GeneCards:  ACSL6  Malacards:  ACSL6

KEGG pathways

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Pathway idPathway name
hsa01100Metabolic pathways
hsa04714Thermogenesis
hsa04146Peroxisome
hsa03320PPAR signaling pathway
hsa01212Fatty acid metabolism
hsa04920Adipocytokine signaling pathway
hsa00071Fatty acid degradation
hsa04216Ferroptosis
hsa00061Fatty acid biosynthesis
Associated diseases References
leukemia PMID:10502316
acute myeloid leukemia PMID:10502316
Teratozoospermia MIK: 17327269
Unexplained infertility MIK: 25753583

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
25753583 Unexplaine
d infertil
ity

46 (17 fertile
men, 29 male pa
tients)
Male infertility Microarray
Show abstract