Homo sapiens (human): 6785
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Entry
6785 CDS
T01001
Symbol
ELOVL4, ADMD, CT118, ISQMR, SCA34, STGD2, STGD3
Name
(RefSeq) ELOVL fatty acid elongase 4
KO
K10249
elongation of very long chain fatty acids protein 4 [EC:
2.3.1.199
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00062
Fatty acid elongation
hsa01040
Biosynthesis of unsaturated fatty acids
hsa01100
Metabolic pathways
hsa01212
Fatty acid metabolism
hsa04382
Cornified envelope formation
Module
hsa_M00415
Fatty acid elongation in endoplasmic reticulum
Network
nt06545
Cornified envelope formation
Element
N01925
Ultra-long-chain omega-hydroxy fatty acyl-CoA synthesis
Disease
H00063
Spinocerebellar ataxia (SCA)
H00819
Stargardt disease
H02935
Ichthyosis, spastic quadriplegia, and impaired intellectual development
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09103 Lipid metabolism
00062 Fatty acid elongation
6785 (ELOVL4)
01040 Biosynthesis of unsaturated fatty acids
6785 (ELOVL4)
09150 Organismal Systems
09158 Development and regeneration
04382 Cornified envelope formation
6785 (ELOVL4)
09180 Brite Hierarchies
09181 Protein families: metabolism
01004 Lipid biosynthesis proteins [BR:
hsa01004
]
6785 (ELOVL4)
Enzymes [BR:
hsa01000
]
2. Transferases
2.3 Acyltransferases
2.3.1 Transferring groups other than aminoacyl groups
2.3.1.199 very-long-chain 3-oxoacyl-CoA synthase
6785 (ELOVL4)
Lipid biosynthesis proteins [BR:
hsa01004
]
Elongase
PUFA
6785 (ELOVL4)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
ELO
Motif
Other DBs
NCBI-GeneID:
6785
NCBI-ProteinID:
NP_073563
OMIM:
605512
HGNC:
14415
Ensembl:
ENSG00000118402
UniProt:
Q9GZR5
LinkDB
All DBs
Position
6:complement(79914814..79947553)
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AA seq
314 aa
AA seq
DB search
MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFV
WLGPKWMKDREPFQMRLVLIIYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVH
EVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVYHHCTMFTLWWIGIKWVAGGQ
AFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTD
CPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMI
ENGKKQKNGKAKGD
NT seq
945 nt
NT seq
+upstream
nt +downstream
nt
atggggctcctggactcggagccgggtagtgtcctaaacgtagtgtccacggcactcaac
gacacggtagagttctaccgctggacctggtccatcgcagataagcgtgtggaaaattgg
cctctgatgcagtctccttggcctacactaagtataagcactctttatctcctgtttgtg
tggctgggtccaaaatggatgaaggaccgagaaccttttcagatgcgtctagtgctcatt
atctataattttgggatggttttgcttaacctctttatcttcagagagttattcatggga
tcatataatgcgggatatagctatatttgccagagtgtggattattctaataatgttcat
gaagtcaggatagctgctgctctgtggtggtactttgtatctaaaggagttgagtatttg
gacacagtgttttttattctgagaaagaaaaacaaccaagtttctttccttcatgtgtat
catcactgtacgatgtttaccttgtggtggattggaattaagtgggttgcaggaggacaa
gcattttttggagcccagttgaattcctttatccatgtgattatgtactcatactatggg
ttaactgcatttggcccatggattcagaaatatctttggtggaaacgatacctgactatg
ttgcaactgattcaattccatgtgaccattgggcacacggcactgtctctttacactgac
tgccccttccccaaatggatgcactgggctctaattgcctatgcaatcagcttcatattt
ctctttcttaacttctacattcggacatacaaagagcctaagaaaccaaaagctggaaaa
acagccatgaatggtatttcagcaaatggtgtgagcaaatcagaaaaacaactcatgata
gaaaatggaaaaaagcagaaaaatggaaaagcaaaaggagattaa
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