Hmdb loader
Identification
HMDB Protein ID HMDBP08645
Secondary Accession Numbers
  • 14364
Name Fatty acid 2-hydroxylase
Synonyms
  1. Fatty acid alpha-hydroxylase
Gene Name FA2H
Protein Type Unknown
Biological Properties
General Function Involved in heme binding
Specific Function Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids
Pathways Not Available
Reactions Not Available
GO Classification
Component
endoplasmic reticulum
organelle
membrane-bounded organelle
intracellular membrane-bounded organelle
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
transition metal ion binding
iron ion binding
heme binding
oxidoreductase activity
Process
metabolic process
sphingolipid metabolic process
membrane lipid metabolic process
primary metabolic process
cellular metabolic process
organic acid metabolic process
oxoacid metabolic process
carboxylic acid metabolic process
monocarboxylic acid metabolic process
fatty acid metabolic process
fatty acid biosynthetic process
oxidation reduction
lipid metabolic process
cellular lipid metabolic process
Cellular Location
  1. Endoplasmic reticulum membrane
  2. Multi-pass membrane protein
  3. Multi-pass membrane protein
  4. Microsome membrane
Gene Properties
Chromosome Location Chromosome:1
Locus 16q23
SNPs FA2H
Gene Sequence
>1119 bp
ATGGCCCCCGCTCCGCCCCCCGCCGCCTCCTTCTCGCCCTCCGAGGTCCAGCGGCGCCTG
GCGGCCGGCGCGTGCTGGGTCCGCCGCGGGGCCCGCCTCTACGACCTCTCCAGCTTCGTG
CGGCACCACCCGGGGGGCGAGCAGCTGCTGCGGGCCAGGGCGGGCCAGGACATCAGCGCC
GACCTGGACGGGCCGCCGCACAGGCACTCGGCCAACGCGCGCCGCTGGCTGGAGCAGTAC
TACGTGGGAGAGCTCCGCGGGGAGCAGCAGGGCTCCATGGAGAACGAGCCTGTAGCCCTT
GAGGAAACTCAGAAGACAGATCCTGCTATGGAACCACGGTTCAAAGTGGTGGATTGGGAC
AAGGACCTGGTGGACTGGCGAAAGCCTCTCCTGTGGCAGGTGGGCCACTTGGGAGAGAAG
TACGATGAGTGGGTTCACCAGCCGGTGACCAGGCCCATCCGCCTCTTCCACTCAGACCTC
ATTGAGGGCCTCTCTAAGACTGTCTGGTACAGTGTCCCCATCATCTGGGTGCCCCTGGTG
CTGTATCTCAGCTGGTCCTACTACCGAACCTTTGCCCAGGGCAACGTCCGACTCTTCACG
TCATTTACAACAGAGTACACGGTGGCAGTGCCCAAGTCCATGTTCCCCGGGCTCTTCATG
CTGGGGACATTCCTCTGGAGCCTCATCGAGTACCTCATCCACCGCTTCCTGTTCCACATG
AAGCCCCCCAGCGACAGCTATTACCTCATCATGCTGCACTTCGTCATGCACGGCCAGCAC
CACAAGGCACCCTTCGACGGCTCCCGCCTGGTCTTCCCCCCTGTGCCAGCCTCCCTGGTG
ATCGGCGTCTTCTACTTGTGCATGCAGCTCATCCTGCCCGAGGCAGTAGGGGGCACTGTG
TTTGCGGGGGGCCTCCTGGGCTACGTCCTCTATGACATGACCCATTACTACCTGCACTTT
GGCTCGCCGCACAAGGGCTCCTACCTGTACAGCCTGAAGGCCCACCACGTCAAGCACCAC
TTTGCACATCAGAAGTCAGGATTTGGTATCAGCACTAAATTGTGGGATTACTGTTTCCAC
ACCCTCACTCCAGAGAAACCCCACCTGAAGACGCAGTGA
Protein Properties
Number of Residues 372
Molecular Weight 42791.0
Theoretical pI 8.88
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 168-188
  • 213-233
  • 268-288
  • 290-310
Protein Sequence
>Fatty acid 2-hydroxylase
MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLLRARAGQDISA
DLDGPPHRHSANARRWLEQYYVGELRGEQQGSMENEPVALEETQKTDPAMEPRFKVVDWD
KDLVDWRKPLLWQVGHLGEKYDEWVHQPVTRPIRLFHSDLIEGLSKTVWYSVPIIWVPLV
LYLSWSYYRTFAQGNVRLFTSFTTEYTVAVPKSMFPGLFMLGTFLWSLIEYLIHRFLFHM
KPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVPASLVIGVFYLCMQLILPEAVGGTV
FAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGISTKLWDYCFH
TLTPEKPHLKTQ
GenBank ID Protein 205360949
UniProtKB/Swiss-Prot ID Q7L5A8
UniProtKB/Swiss-Prot Entry Name FA2H_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_024306.4
GeneCard ID FA2H
GenAtlas ID FA2H
HGNC ID HGNC:21197
References
General References
  1. 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, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y, Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC, Adams MD: Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Genomics. 1999 Sep 15;60(3):295-308. [PubMed:10493829 ]
  4. Alderson NL, Rembiesa BM, Walla MD, Bielawska A, Bielawski J, Hama H: The human FA2H gene encodes a fatty acid 2-hydroxylase. J Biol Chem. 2004 Nov 19;279(47):48562-8. Epub 2004 Aug 27. [PubMed:15337768 ]
  5. Uchida Y, Hama H, Alderson NL, Douangpanya S, Wang Y, Crumrine DA, Elias PM, Holleran WM: Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation. J Biol Chem. 2007 May 4;282(18):13211-9. Epub 2007 Mar 12. [PubMed:17355976 ]
  6. Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O: Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008.10.010. [PubMed:19068277 ]