Fa2h fatty acid 2-hydroxylase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fa2hprovided by MGI
Official Full Name: fatty acid 2-hydroxylaseprovided by MGI
Primary source: MGI:MGI:2443327
See related: Ensembl:ENSMUSG00000033579 AllianceGenome:MGI:2443327
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: FAAH; Faxdc1; G630055L08Rik
Summary: Enables fatty acid 2-hydroxylase activity. Involved in galactosylceramide biosynthetic process; glucosylceramide biosynthetic process; and plasma membrane raft organization. Acts upstream of or within several processes, including myelin maintenance; regulation of acinar cell proliferation; and sebaceous gland cell differentiation. Located in endoplasmic reticulum. Is expressed in back skin; sebaceous gland; skin; spinal cord; and vibrissa. Used to study hereditary spastic paraplegia 35. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 35. Orthologous to human FA2H (fatty acid 2-hydroxylase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in stomach adult (RPKM 77.1), colon adult (RPKM 59.1) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 57.98 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (112071770..112120453, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (111345138..111393821, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dysregulated ceramides metabolism by fatty acid 2-hydroxylase exposes a metabolic vulnerability to target cancer metastasis.
Title: Dysregulated ceramides metabolism by fatty acid 2-hydroxylase exposes a metabolic vulnerability to target cancer metastasis.
Age-Dependent Increase in Schmidt-Lanterman Incisures and a Cadm4-Associated Membrane Skeletal Complex in Fatty Acid 2-hydroxylase Deficient Mice: a Mouse Model of Spastic Paraplegia SPG35.
Title: Age-Dependent Increase in Schmidt-Lanterman Incisures and a Cadm4-Associated Membrane Skeletal Complex in Fatty Acid 2-hydroxylase Deficient Mice: a Mouse Model of Spastic Paraplegia SPG35.
Decreased turnover of the CNS myelin protein Opalin in a mouse model of hereditary spastic paraplegia 35.
Title: Decreased turnover of the CNS myelin protein Opalin in a mouse model of hereditary spastic paraplegia 35.
expression of Elovl4 and Fa2h thus correlate with the abundance of n-Vs and h-Vs in the SLs of rat spermatocytes and spermatids, respectively
Title: Elovl4 and Fa2h expression during rat spermatogenesis: a link to the very-long-chain PUFAs typical of germ cell sphingolipids.
the importance of the sebaceous glands and a role of specific sebaceous gland or sebum lipids, synthesized by FA2H, in the hair follicle homeostasis
Title: Normal fur development and sebum production depends on fatty acid 2-hydroxylase expression in sebaceous glands.
This study provided the first evidence that FA2H has an important function outside of oligodendrocytes in the Central nervous system.
Title: Central nervous system dysfunction in a mouse model of FA2H deficiency.
Our study showed that the additional deletion of Fa2h does not obviously affect the phenotype of Cgt-/- mice. This suggests that HFA-GlcCer and HFA-sphingomyelin do not functionally compensate the loss of HFA-GalCer in Cgt-/- mice.
Title: Myelination in the absence of UDP-galactose:ceramide galactosyl-transferase and fatty acid 2 -hydroxylase.
Fndings document the novel role of FA2H in adipocyte lipogenesis possibly by modulation of raft fluidity and level of GLUT4.
Title: Fatty acid 2-hydroxylase mediates diffusional mobility of Raft-associated lipids, GLUT4 level, and lipogenesis in 3T3-L1 adipocytes.
FA2H is the enzyme responsible for the formation of alpha-hydroxylated ceramide in oligodendrocytes of the mammalian brain.
Title: A mammalian fatty acid hydroxylase responsible for the formation of alpha-hydroxylated galactosylceramide in myelin.
FA2H is the major fatty acid 2-hydroxylase in brain, and 2-hydroxylation of free fatty acids is the first step in the synthesis of 2-hydroxy galactolipids
Title: FA2H-dependent fatty acid 2-hydroxylation in postnatal mouse brain.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (5)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase activity	IEA Inferred from Electronic Annotation more info
enables fatty acid 2-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid 2-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables fatty acid 2-hydroxylase activity	ISO Inferred from Sequence Orthology more info
enables free fatty acid 2-hydroxylase activity	IEA Inferred from Electronic Annotation more info
enables heme binding	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within central nervous system myelin maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in ceramide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of skin barrier	ISO Inferred from Sequence Orthology more info
involved_in establishment of skin barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in fatty acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in galactosylceramide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in galactosylceramide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in galactosylceramide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in galactosylceramide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in glucosylceramide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid modification	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within lipid modification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peripheral nervous system myelin maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in plasma membrane raft organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of acinar cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of hair cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of sebum secreting cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sebaceous gland cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: fatty acid 2-hydroxylase

Names: fatty acid alpha-hydroxylase; fatty acid hydroxylase domain containing 1

NP_835187.2

EC 1.-.-.-

EC 1.14.18.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_178086.3 → NP_835187.2 fatty acid 2-hydroxylase

See identical proteins and their annotated locations for NP_835187.2

Status: VALIDATED

Source sequence(s)

AK161502, BB076849, CJ152901

Consensus CDS

CCDS22674.1

UniProtKB/Swiss-Prot

Q2M2M0, Q5MPP0, Q5RL53, Q8BTH1, Q8R0M0, Q8R0V1

Related

ENSMUSP00000043597.9, ENSMUST00000038475.9

Conserved Domains (3) summary

COG3000
Location:208 → 365

ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]

pfam00173
Location:11 → 85

Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

cl01132
Location:124 → 372

FA_hydroxylase; Fatty acid hydroxylase superfamily