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Entry version 157 (29 Sep 2021)
Sequence version 1 (23 Nov 2004)
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Protein

Fatty acid 2-hydroxylase

Gene

FA2H

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the hydroxylation of free fatty acids at the C-2 position to produce 2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis (PubMed:15337768, PubMed:15863841, PubMed:17355976, PubMed:22517924).

FA2H is stereospecific for the production of (R)-2-hydroxy fatty acids (PubMed:22517924).

Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath (By similarity).

Responsible for the synthesis of sphingolipids and glycosphingolipids involved in the formation of epidermal lamellar bodies critical for skin permeability barrier (PubMed:17355976).

Participates in the synthesis of glycosphingolipids and a fraction of type II wax diesters in sebaceous gland, specifically regulating hair follicle homeostasis (By similarity).

Involved in the synthesis of sphingolipids of plasma membrane rafts, controlling lipid raft mobility and trafficking of raft-associated proteins (By similarity).

By similarity4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+By similarityNote: Binds 2 Zn2+ ions per subunit that likely form a catalytic dimetal center.By similarity

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

KM<0.18 µM for tetracosanoic acid.1 Publication

pH dependencei

Optimum pH is 7.6-7.8.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: fatty acid metabolism

This protein is involved in the pathway fatty acid metabolism, which is part of Lipid metabolism.2 Publications
View all proteins of this organism that are known to be involved in the pathway fatty acid metabolism and in Lipid metabolism.

Pathwayi: galactosylceramide biosynthesis

This protein is involved in the pathway galactosylceramide biosynthesis, which is part of Sphingolipid metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway galactosylceramide biosynthesis and in Sphingolipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi43Iron (heme axial ligand)PROSITE-ProRule annotation1
Metal bindingi69Iron (heme axial ligand)PROSITE-ProRule annotation1
Metal bindingi234Zinc 1; via tele nitrogenBy similarity1
Metal bindingi239Zinc 1; via tele nitrogenBy similarity1
Metal bindingi257Zinc 1; via tele nitrogenBy similarity1
Metal bindingi260Zinc 2; via tele nitrogenBy similarity1
Metal bindingi261Zinc 1; via tele nitrogenBy similarity1
Metal bindingi315Zinc 2; via tele nitrogenBy similarity1
Metal bindingi319Zinc 2; via tele nitrogenBy similarity1
Metal bindingi336Zinc 2; via tele nitrogenBy similarity1
Metal bindingi339Zinc 1; via tele nitrogenBy similarity1
Metal bindingi340Zinc 2; via tele nitrogenBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
Biological processFatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Sphingolipid metabolism
LigandHeme, Iron, Metal-binding, Zinc

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:ENSG00000103089-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
1.14.18.6, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q7L5A8

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1660661, Sphingolipid de novo biosynthesis

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00199
UPA00787

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000328
SLP:000000519

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Fatty acid 2-hydroxylase4 Publications (EC:1.14.18.-4 Publications)
Alternative name(s):
Fatty acid alpha-hydroxylase1 Publication
Fatty acid hydroxylase domain-containing protein 1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FA2H4 PublicationsImported
Synonyms:FAAH, FAXDC1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21197, FA2H

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611026, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7L5A8

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000103089

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei168 – 188HelicalSequence analysisAdd BLAST21
Transmembranei213 – 233HelicalSequence analysisAdd BLAST21
Transmembranei268 – 288HelicalSequence analysisAdd BLAST21
Transmembranei290 – 310HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spastic paraplegia 35, autosomal recessive (SPG35)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05489335D → Y in SPG35; patients present spastic paraparesis associated with leukodystrophy and dystonia. 1 PublicationCorresponds to variant dbSNP:rs121918217EnsemblClinVar.1
Natural variantiVAR_06462053 – 58Missing in SPG35; significantly reduced enzymatic function. 1 Publication6
Natural variantiVAR_065245154R → C in SPG35. 1 PublicationCorresponds to variant dbSNP:rs387907040EnsemblClinVar.1
Natural variantiVAR_064621235R → C in SPG35; significantly reduced enzymatic function. 1 PublicationCorresponds to variant dbSNP:rs387907039EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Hereditary spastic paraplegia, Leukodystrophy, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
79152

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
FA2H

MalaCards human disease database

More...
MalaCardsi
FA2H
MIMi612319, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000103089

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
171629, Autosomal recessive spastic paraplegia type 35
329308, Fatty acid hydroxylase-associated neurodegeneration

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA145148065

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q7L5A8, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FA2H

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74749893

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003123491 – 372Fatty acid 2-hydroxylaseAdd BLAST372

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q7L5A8

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q7L5A8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q7L5A8

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q7L5A8

PeptideAtlas

More...
PeptideAtlasi
Q7L5A8

PRoteomics IDEntifications database

More...
PRIDEi
Q7L5A8

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
68806 [Q7L5A8-1]
6981

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7L5A8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q7L5A8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes (PubMed:17355976). Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney (PubMed:15337768).2 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated during keratinocyte differentiation.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000103089, Expressed in C1 segment of cervical spinal cord and 177 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q7L5A8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q7L5A8, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000103089, Tissue enhanced (brain, stomach)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
122570, 38 interactors

Protein interaction database and analysis system

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IntActi
Q7L5A8, 31 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000219368

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q7L5A8, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q7L5A8

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini8 – 86Cytochrome b5 heme-bindingPROSITE-ProRule annotationAdd BLAST79
Domaini219 – 361Fatty acid hydroxylaseSequence analysisAdd BLAST143

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The histidine box domains may contain the active site and/or be involved in metal ion binding.
The N-terminal cytochrome b5 heme-binding domain is essential for catalytic activity.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0537, Eukaryota
KOG0539, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000002142

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_034756_2_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q7L5A8

Identification of Orthologs from Complete Genome Data

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OMAi
HFADYEN

Database of Orthologous Groups

More...
OrthoDBi
1049908at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q7L5A8

TreeFam database of animal gene trees

More...
TreeFami
TF314955

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.10.120.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00173, Cyt-b5, 1 hit
PF04116, FA_hydroxylase, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF005149, IPC-B_HD, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00363, CYTOCHROMEB5

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01117, Cyt-b5, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF55856, SSF55856, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00191, CYTOCHROME_B5_1, 1 hit
PS50255, CYTOCHROME_B5_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7L5A8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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 FSPSEVQRRL AAGACWVRRG ARLYDLSSFV RHHPGGEQLL
60 70 80 90 100
RARAGQDISA DLDGPPHRHS ANARRWLEQY YVGELRGEQQ GSMENEPVAL
110 120 130 140 150
EETQKTDPAM EPRFKVVDWD KDLVDWRKPL LWQVGHLGEK YDEWVHQPVT
160 170 180 190 200
RPIRLFHSDL IEGLSKTVWY SVPIIWVPLV LYLSWSYYRT FAQGNVRLFT
210 220 230 240 250
SFTTEYTVAV PKSMFPGLFM LGTFLWSLIE YLIHRFLFHM KPPSDSYYLI
260 270 280 290 300
MLHFVMHGQH HKAPFDGSRL VFPPVPASLV IGVFYLCMQL ILPEAVGGTV
310 320 330 340 350
FAGGLLGYVL YDMTHYYLHF GSPHKGSYLY SLKAHHVKHH FAHQKSGFGI
360 370
STKLWDYCFH TLTPEKPHLK TQ
Length:372
Mass (Da):42,791
Last modified:November 23, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3F56B4C689B317BE
GO
Isoform 2 (identifier: Q7L5A8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-213: Missing.

Show »
Length:159
Mass (Da):18,324
Checksum:i547E5204C9151968
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BP32H3BP32_HUMAN
Fatty acid 2-hydroxylase
FA2H
156Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QS89J3QS89_HUMAN
Fatty acid 2-hydroxylase
FA2H
192Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WVM8A0A087WVM8_HUMAN
Fatty acid 2-hydroxylase
FA2H
18Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti184S → G in BAB71632 (PubMed:14702039).Curated1
Sequence conflicti356D → G in BAB71632 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05489335D → Y in SPG35; patients present spastic paraparesis associated with leukodystrophy and dystonia. 1 PublicationCorresponds to variant dbSNP:rs121918217EnsemblClinVar.1
Natural variantiVAR_06462053 – 58Missing in SPG35; significantly reduced enzymatic function. 1 Publication6
Natural variantiVAR_03750397P → A. Corresponds to variant dbSNP:rs35874850EnsemblClinVar.1
Natural variantiVAR_065245154R → C in SPG35. 1 PublicationCorresponds to variant dbSNP:rs387907040EnsemblClinVar.1
Natural variantiVAR_064621235R → C in SPG35; significantly reduced enzymatic function. 1 PublicationCorresponds to variant dbSNP:rs387907039EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0561351 – 213Missing in isoform 2. 1 PublicationAdd BLAST213

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK058016 mRNA Translation: BAB71632.1
AK303878 mRNA Translation: BAH14072.1
AC004685 Genomic DNA Translation: AAC23496.1 Sequence problems.
AC009132 Genomic DNA No translation available.
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10911.1 [Q7L5A8-1]

NCBI Reference Sequences

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RefSeqi
NP_077282.3, NM_024306.4 [Q7L5A8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000219368; ENSP00000219368; ENSG00000103089 [Q7L5A8-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79152

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79152

UCSC genome browser

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UCSCi
uc002fde.3, human [Q7L5A8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK058016 mRNA Translation: BAB71632.1
AK303878 mRNA Translation: BAH14072.1
AC004685 Genomic DNA Translation: AAC23496.1 Sequence problems.
AC009132 Genomic DNA No translation available.
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 [Q7L5A8-1]
RefSeqiNP_077282.3, NM_024306.4 [Q7L5A8-1]

3D structure databases

SMRiQ7L5A8
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi122570, 38 interactors
IntActiQ7L5A8, 31 interactors
STRINGi9606.ENSP00000219368

Chemistry databases

SwissLipidsiSLP:000000328
SLP:000000519

PTM databases

iPTMnetiQ7L5A8
PhosphoSitePlusiQ7L5A8

Genetic variation databases

BioMutaiFA2H
DMDMi74749893

Proteomic databases

EPDiQ7L5A8
MassIVEiQ7L5A8
MaxQBiQ7L5A8
PaxDbiQ7L5A8
PeptideAtlasiQ7L5A8
PRIDEiQ7L5A8
ProteomicsDBi68806 [Q7L5A8-1]
6981

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
30274, 215 antibodies

The DNASU plasmid repository

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DNASUi
79152

Genome annotation databases

EnsembliENST00000219368; ENSP00000219368; ENSG00000103089 [Q7L5A8-1]
GeneIDi79152
KEGGihsa:79152
UCSCiuc002fde.3, human [Q7L5A8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79152
DisGeNETi79152

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FA2H
GeneReviewsiFA2H
HGNCiHGNC:21197, FA2H
HPAiENSG00000103089, Tissue enhanced (brain, stomach)
MalaCardsiFA2H
MIMi611026, gene
612319, phenotype
neXtProtiNX_Q7L5A8
OpenTargetsiENSG00000103089
Orphaneti171629, Autosomal recessive spastic paraplegia type 35
329308, Fatty acid hydroxylase-associated neurodegeneration
PharmGKBiPA145148065
VEuPathDBiHostDB:ENSG00000103089

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0537, Eukaryota
KOG0539, Eukaryota
GeneTreeiENSGT00390000002142
HOGENOMiCLU_034756_2_0_1
InParanoidiQ7L5A8
OMAiHFADYEN
OrthoDBi1049908at2759
PhylomeDBiQ7L5A8
TreeFamiTF314955

Enzyme and pathway databases

UniPathwayiUPA00199
UPA00787
BioCyciMetaCyc:ENSG00000103089-MONOMER
BRENDAi1.14.18.6, 2681
PathwayCommonsiQ7L5A8
ReactomeiR-HSA-1660661, Sphingolipid de novo biosynthesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
79152, 4 hits in 1007 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
FA2H, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
FA2H

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
79152
PharosiQ7L5A8, Tbio

Protein Ontology

More...
PROi
PR:Q7L5A8
RNActiQ7L5A8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000103089, Expressed in C1 segment of cervical spinal cord and 177 other tissues
ExpressionAtlasiQ7L5A8, baseline and differential
GenevisibleiQ7L5A8, HS

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

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFA2H_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q7L5A8
Secondary accession number(s): B7Z8T6
, O75213, Q96DK1, Q9H1A5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: November 23, 2004
Last modified: September 29, 2021
This is version 157 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families
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