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Q7L5A8

- FA2H_HUMAN

UniProt

Q7L5A8 - FA2H_HUMAN

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Protein
Fatty acid 2-hydroxylase
Gene
FA2H, FAAH
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids.2 Publications

Cofactori

Iron By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi43 – 431Iron (heme axial ligand) By similarity
Metal bindingi69 – 691Iron (heme axial ligand) By similarity

GO - Molecular functioni

  1. fatty acid alpha-hydroxylase activity Source: Ensembl
  2. heme binding Source: InterPro
  3. iron ion binding Source: InterPro

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. central nervous system myelin maintenance Source: Ensembl
  3. fatty acid biosynthetic process Source: UniProtKB-KW
  4. lipid modification Source: Ensembl
  5. peripheral nervous system myelin maintenance Source: Ensembl
  6. regulation of cell proliferation Source: Ensembl
  7. regulation of hair cycle Source: Ensembl
  8. sebaceous gland cell differentiation Source: Ensembl
  9. sphingolipid metabolic process Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Electron transport, Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Transport

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000103089-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Fatty acid 2-hydroxylase (EC:1.-.-.-)
Alternative name(s):
Fatty acid alpha-hydroxylase
Gene namesi
Name:FA2H
Synonyms:FAAH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:21197. FA2H.

Subcellular locationi

Endoplasmic reticulum membrane; Multi-pass membrane protein. Microsome membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei168 – 18821Helical; Reviewed prediction
Add
BLAST
Transmembranei213 – 23321Helical; Reviewed prediction
Add
BLAST
Transmembranei268 – 28821Helical; Reviewed prediction
Add
BLAST
Transmembranei290 – 31021Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 35, autosomal recessive (SPG35) [MIM:612319]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti35 – 351D → Y in SPG35; patients present spastic paraparesis associated with leukodystrophy and dystonia. 1 Publication
VAR_054893
Natural varianti53 – 586Missing in SPG35; significantly reduced enzymatic function.
VAR_064620
Natural varianti154 – 1541R → C in SPG35. 1 Publication
VAR_065245
Natural varianti235 – 2351R → C in SPG35; significantly reduced enzymatic function. 1 Publication
VAR_064621

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Leukodystrophy, Neurodegeneration

Organism-specific databases

MIMi612319. phenotype.
Orphaneti171629. Autosomal recessive spastic paraplegia type 35.
329308. Fatty acid hydroxylase-associated neurodegeneration.
PharmGKBiPA145148065.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 372372Fatty acid 2-hydroxylase
PRO_0000312349Add
BLAST

Proteomic databases

MaxQBiQ7L5A8.
PaxDbiQ7L5A8.
PRIDEiQ7L5A8.

Expressioni

Tissue specificityi

Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes. Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney.2 Publications

Inductioni

Up-regulated during keratinocyte differentiation.1 Publication

Gene expression databases

ArrayExpressiQ7L5A8.
BgeeiQ7L5A8.
CleanExiHS_FA2H.
GenevestigatoriQ7L5A8.

Interactioni

Protein-protein interaction databases

BioGridi122570. 1 interaction.
MINTiMINT-2876220.
STRINGi9606.ENSP00000219368.

Structurei

3D structure databases

ProteinModelPortaliQ7L5A8.
SMRiQ7L5A8. Positions 12-115.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini8 – 8679Cytochrome b5 heme-binding
Add
BLAST

Domaini

The histidine box domains may contain the active site and/or be involved in metal ion binding.

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG3000.
HOGENOMiHOG000023981.
HOVERGENiHBG054265.
InParanoidiQ7L5A8.
OMAiMKAHHVK.
OrthoDBiEOG71P2BJ.
PhylomeDBiQ7L5A8.
TreeFamiTF314955.

Family and domain databases

Gene3Di3.10.120.10. 1 hit.
InterProiIPR001199. Cyt_B5-like_heme/steroid-bd.
IPR018506. Cyt_B5_heme-BS.
IPR006694. Fatty_acid_hydroxylase.
IPR014430. Ino-phos-ceramide-B_Hydrxlase.
[Graphical view]
PfamiPF00173. Cyt-b5. 1 hit.
PF04116. FA_hydroxylase. 1 hit.
[Graphical view]
PIRSFiPIRSF005149. IPC-B_HD. 1 hit.
PRINTSiPR00363. CYTOCHROMEB5.
SUPFAMiSSF55856. SSF55856. 1 hit.
PROSITEiPS00191. CYTOCHROME_B5_1. 1 hit.
PS50255. CYTOCHROME_B5_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q7L5A8-1 [UniParc]FASTAAdd to Basket

« Hide

MAPAPPPAAS FSPSEVQRRL AAGACWVRRG ARLYDLSSFV RHHPGGEQLL    50
RARAGQDISA DLDGPPHRHS ANARRWLEQY YVGELRGEQQ GSMENEPVAL 100
EETQKTDPAM EPRFKVVDWD KDLVDWRKPL LWQVGHLGEK YDEWVHQPVT 150
RPIRLFHSDL IEGLSKTVWY SVPIIWVPLV LYLSWSYYRT FAQGNVRLFT 200
SFTTEYTVAV PKSMFPGLFM LGTFLWSLIE YLIHRFLFHM KPPSDSYYLI 250
MLHFVMHGQH HKAPFDGSRL VFPPVPASLV IGVFYLCMQL ILPEAVGGTV 300
FAGGLLGYVL YDMTHYYLHF GSPHKGSYLY SLKAHHVKHH FAHQKSGFGI 350
STKLWDYCFH TLTPEKPHLK TQ 372
Length:372
Mass (Da):42,791
Last modified:November 23, 2004 - v1
Checksum:i3F56B4C689B317BE
GO

Sequence cautioni

The sequence AAC23496.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti35 – 351D → Y in SPG35; patients present spastic paraparesis associated with leukodystrophy and dystonia. 1 Publication
VAR_054893
Natural varianti53 – 586Missing in SPG35; significantly reduced enzymatic function.
VAR_064620
Natural varianti97 – 971P → A.
Corresponds to variant rs35874850 [ dbSNP | Ensembl ].
VAR_037503
Natural varianti154 – 1541R → C in SPG35. 1 Publication
VAR_065245
Natural varianti235 – 2351R → C in SPG35; significantly reduced enzymatic function. 1 Publication
VAR_064621

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti184 – 1841S → G in BAB71632. 1 Publication
Sequence conflicti356 – 3561D → G in BAB71632. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK058016 mRNA. Translation: BAB71632.1.
AC004685 Genomic DNA. Translation: AAC23496.1. Sequence problems.
CH471114 Genomic DNA. Translation: EAW95678.1.
BC002679 mRNA. Translation: AAH02679.2.
BC004263 mRNA. Translation: AAH04263.2.
BC017049 mRNA. Translation: AAH17049.2.
AJ278219 mRNA. Translation: CAC20436.1.
CCDSiCCDS10911.1.
RefSeqiNP_077282.3. NM_024306.4.
UniGeneiHs.461329.

Genome annotation databases

EnsembliENST00000219368; ENSP00000219368; ENSG00000103089.
GeneIDi79152.
KEGGihsa:79152.
UCSCiuc002fde.2. human.

Polymorphism databases

DMDMi74749893.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK058016 mRNA. Translation: BAB71632.1 .
AC004685 Genomic DNA. Translation: AAC23496.1 . Sequence problems.
CH471114 Genomic DNA. Translation: EAW95678.1 .
BC002679 mRNA. Translation: AAH02679.2 .
BC004263 mRNA. Translation: AAH04263.2 .
BC017049 mRNA. Translation: AAH17049.2 .
AJ278219 mRNA. Translation: CAC20436.1 .
CCDSi CCDS10911.1.
RefSeqi NP_077282.3. NM_024306.4.
UniGenei Hs.461329.

3D structure databases

ProteinModelPortali Q7L5A8.
SMRi Q7L5A8. Positions 12-115.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122570. 1 interaction.
MINTi MINT-2876220.
STRINGi 9606.ENSP00000219368.

Polymorphism databases

DMDMi 74749893.

Proteomic databases

MaxQBi Q7L5A8.
PaxDbi Q7L5A8.
PRIDEi Q7L5A8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000219368 ; ENSP00000219368 ; ENSG00000103089 .
GeneIDi 79152.
KEGGi hsa:79152.
UCSCi uc002fde.2. human.

Organism-specific databases

CTDi 79152.
GeneCardsi GC16M074746.
GeneReviewsi FA2H.
HGNCi HGNC:21197. FA2H.
MIMi 611026. gene.
612319. phenotype.
neXtProti NX_Q7L5A8.
Orphaneti 171629. Autosomal recessive spastic paraplegia type 35.
329308. Fatty acid hydroxylase-associated neurodegeneration.
PharmGKBi PA145148065.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3000.
HOGENOMi HOG000023981.
HOVERGENi HBG054265.
InParanoidi Q7L5A8.
OMAi MKAHHVK.
OrthoDBi EOG71P2BJ.
PhylomeDBi Q7L5A8.
TreeFami TF314955.

Enzyme and pathway databases

BioCyci MetaCyc:ENSG00000103089-MONOMER.

Miscellaneous databases

GeneWikii FA2H.
GenomeRNAii 79152.
NextBioi 68068.
PROi Q7L5A8.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q7L5A8.
Bgeei Q7L5A8.
CleanExi HS_FA2H.
Genevestigatori Q7L5A8.

Family and domain databases

Gene3Di 3.10.120.10. 1 hit.
InterProi IPR001199. Cyt_B5-like_heme/steroid-bd.
IPR018506. Cyt_B5_heme-BS.
IPR006694. Fatty_acid_hydroxylase.
IPR014430. Ino-phos-ceramide-B_Hydrxlase.
[Graphical view ]
Pfami PF00173. Cyt-b5. 1 hit.
PF04116. FA_hydroxylase. 1 hit.
[Graphical view ]
PIRSFi PIRSF005149. IPC-B_HD. 1 hit.
PRINTSi PR00363. CYTOCHROMEB5.
SUPFAMi SSF55856. SSF55856. 1 hit.
PROSITEi PS00191. CYTOCHROME_B5_1. 1 hit.
PS50255. CYTOCHROME_B5_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    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 T.-O., 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.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Gastric mucosa.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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].
    Tissue: Colon and Pancreas.
  5. "Cloning of human fatty acid hydroxylase."
    Van Veldhoven P.P.
    Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 93-372.
  6. Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  7. "Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation."
    Uchida Y., Hama H., Alderson N.L., Douangpanya S., Wang Y., Crumrine D.A., Elias P.M., Holleran W.M.
    J. Biol. Chem. 282:13211-13219(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INDUCTION, TISSUE SPECIFICITY.
  8. "Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia."
    Edvardson S., Hama H., Shaag A., Gomori J.M., Berger I., Soffer D., Korman S.H., Taustein I., Saada A., Elpeleg O.
    Am. J. Hum. Genet. 83:643-648(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SPG35 TYR-35.
  9. Cited for: VARIANT SPG35 CYS-154.
  10. Cited for: VARIANTS SPG35 53-ARG--ILE-58 DEL AND CYS-235, CHARACTERIZATION OF VARIANTS SPG35 53-ARG--ILE-58 DEL AND CYS-235.

Entry informationi

Entry nameiFA2H_HUMAN
AccessioniPrimary (citable) accession number: Q7L5A8
Secondary accession number(s): O75213, Q96DK1, Q9H1A5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: November 23, 2004
Last modified: July 9, 2014
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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