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Protein

Fatty acid 2-hydroxylase

Gene

Fa2h

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Cofactori

Fe cationBy similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi43Iron (heme axial ligand)PROSITE-ProRule annotation1
Metal bindingi69Iron (heme axial ligand)PROSITE-ProRule annotation1

GO - Molecular functioni

  • fatty acid alpha-hydroxylase activity Source: MGI
  • heme binding Source: InterPro
  • iron ion binding Source: InterPro

GO - Biological processi

  • central nervous system myelin maintenance Source: MGI
  • fatty acid biosynthetic process Source: UniProtKB-KW
  • fatty acid metabolic process Source: MGI
  • lipid modification Source: MGI
  • peripheral nervous system myelin maintenance Source: MGI
  • regulation of cell proliferation Source: MGI
  • regulation of hair cycle Source: MGI
  • sebaceous gland cell differentiation Source: MGI

Keywordsi

Molecular functionOxidoreductase
Biological processElectron transport, Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Transport
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

ReactomeiR-MMU-1660661 Sphingolipid de novo biosynthesis

Chemistry databases

SwissLipidsiSLP:000000363

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
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 8

Organism-specific databases

MGIiMGI:2443327 Fa2h

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei168 – 188HelicalSequence analysisAdd BLAST21
Transmembranei213 – 233HelicalSequence analysisAdd BLAST21
Transmembranei268 – 288HelicalSequence analysisAdd BLAST21
Transmembranei290 – 310HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003123511 – 372Fatty acid 2-hydroxylaseAdd BLAST372

Proteomic databases

PaxDbiQ5MPP0
PRIDEiQ5MPP0

PTM databases

PhosphoSitePlusiQ5MPP0

Expressioni

Tissue specificityi

Detected in brain and skin (at protein level). Detected in brain white matter, cerebellum forebrain, stomach, kidney, skin and testis. Detected in oligodendrocytes.2 Publications

Developmental stagei

Levels increase rapidly in brains from newborns, in parallel with myelination in the central nervous system. Present at very low levels in newborns. Levels are highest at 2 to 3 weeks, and then decrease slightly to reach an constant, intermediate level after 4 months. Constitutively expressed at an intermediate level throughout adult life.2 Publications

Gene expression databases

BgeeiENSMUSG00000033579
CleanExiMM_FA2H
MM_FAAH
GenevisibleiQ5MPP0 MM

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000043597

Structurei

3D structure databases

ProteinModelPortaliQ5MPP0
SMRiQ5MPP0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini8 – 86Cytochrome b5 heme-bindingPROSITE-ProRule annotationAdd BLAST79

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

eggNOGiKOG0539 Eukaryota
COG3000 LUCA
GeneTreeiENSGT00390000002142
HOGENOMiHOG000023981
HOVERGENiHBG054265
InParanoidiQ5MPP0
KOiK19703
OMAiRWLEQYY
OrthoDBiEOG091G0I8M
PhylomeDBiQ5MPP0
TreeFamiTF314955

Family and domain databases

Gene3Di3.10.120.10, 1 hit
InterProiView protein in InterPro
IPR001199 Cyt_B5-like_heme/steroid-bd
IPR036400 Cyt_B5-like_heme/steroid_sf
IPR018506 Cyt_B5_heme-BS
IPR006694 Fatty_acid_hydroxylase
IPR014430 Scs7
PfamiView protein in Pfam
PF00173 Cyt-b5, 1 hit
PF04116 FA_hydroxylase, 1 hit
PIRSFiPIRSF005149 IPC-B_HD, 1 hit
PRINTSiPR00363 CYTOCHROMEB5
SMARTiView protein in SMART
SM01117 Cyt-b5, 1 hit
SUPFAMiSSF55856 SSF55856, 1 hit
PROSITEiView protein in PROSITE
PS00191 CYTOCHROME_B5_1, 1 hit
PS50255 CYTOCHROME_B5_2, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5MPP0-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAPAPPPAAS FTPAEVQRRL AAGACWVRRG ASLYDLTSFV RHHPGGEQLL
60 70 80 90 100
LARAGQDISA DLDGPPHRHS DNARRWLEQY YVGELRADPQ DPTENGAVAS
110 120 130 140 150
AETQKTDPAL EPQFKVVDWD KDLVDWQKPL LWQVGHLGEK YDEWVHQPVA
160 170 180 190 200
RPIRLFHSDL IEAFSKTVWY SVPIIWVPLV LYLSWSYYRT LTQDNIRLFA
210 220 230 240 250
SLTREYSMMM PESVFIGLFV LGMLFWTFVE YVIHRFLFHM KPPSNSHYLI
260 270 280 290 300
MLHFVMHGQH HKAPFDGSRL VFPPVPASLV IAFFYVFLRL ILPETVGGII
310 320 330 340 350
FAGGLLGYVL YDMTHYYLHF GSPHKGSYLY NMKAHHVKHH FEYQKSGFGI
360 370
STKLWDYFFH TLIPEEAHPK MQ
Length:372
Mass (Da):42,981
Last modified:February 1, 2005 - v1
Checksum:i8E3311FE6491F088
GO
Isoform 2 (identifier: Q5MPP0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     267-325: Missing.

Show »
Length:313
Mass (Da):36,428
Checksum:iE84CB7A709E01ED6
GO
Isoform 3 (identifier: Q5MPP0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-208: Missing.

Show »
Length:164
Mass (Da):19,207
Checksum:i67DB00281A4B380B
GO

Sequence cautioni

The sequence AAH46985 differs from that shown. Reason: Frameshift at position 34.Curated
The sequence AAI11913 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti103T → I in strain: C57BL/6J. 2 Publications1
Natural varianti348F → L in strain: C57BL/6J. 2 Publications1
Natural varianti354L → P in strain: C57BL/6J. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0298371 – 208Missing in isoform 3. 1 PublicationAdd BLAST208
Alternative sequenceiVSP_029838267 – 325Missing in isoform 2. 1 PublicationAdd BLAST59

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY660882 mRNA Translation: AAV70494.1
AK090338 mRNA Translation: BAC41174.1
AK161502 mRNA Translation: BAE36428.1
BC026400 mRNA Translation: AAH26400.1
BC026629 mRNA Translation: AAH26629.1
BC046985 mRNA Translation: AAH46985.1 Frameshift.
BC111912 mRNA Translation: AAI11913.1 Different initiation.
BC128080 mRNA Translation: AAI28081.1
BC128081 mRNA Translation: AAI28082.1
CCDSiCCDS22674.1 [Q5MPP0-1]
RefSeqiNP_835187.2, NM_178086.3 [Q5MPP0-1]
UniGeneiMm.41083

Genome annotation databases

EnsembliENSMUST00000038475; ENSMUSP00000043597; ENSMUSG00000033579 [Q5MPP0-1]
GeneIDi338521
KEGGimmu:338521
UCSCiuc009nmf.2 mouse [Q5MPP0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFA2H_MOUSE
AccessioniPrimary (citable) accession number: Q5MPP0
Secondary accession number(s): Q2M2M0
, Q5RL53, Q8BTH1, Q8R0M0, Q8R0V1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: February 1, 2005
Last modified: April 25, 2018
This is version 111 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health