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Entry version 142 (13 Feb 2019)
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 stereospecific hydroxylation of free fatty acids at the C-2 position to produce (R)-2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis (PubMed:17355976, PubMed:22517924, PubMed:15863841, PubMed:15337768). 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 ‘Function’ 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 processElectron transport, Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Transport
      LigandHeme, Iron, Metal-binding, Zinc

      Enzyme and pathway databases

      BioCyc Collection of Pathway/Genome Databases

      More...
      BioCyci
      MetaCyc:ENSG00000103089-MONOMER

      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.-3 Publications)
      Alternative name(s):
      Fatty acid alpha-hydroxylase1 Publication
      <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
      <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

      Eukaryotic Pathogen Database Resources

      More...
      EuPathDBi
      HostDB:ENSG00000103089.8

      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

      <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

      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
      <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 mutations 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.
      See also OMIM:612319
      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 mutation, 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

      Polymorphism and mutation 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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003123491 – 372Fatty acid 2-hydroxylaseAdd BLAST372

      Proteomic databases

      Encyclopedia of Proteome Dynamics

      More...
      EPDi
      Q7L5A8

      jPOST - Japan Proteome Standard Repository/Database

      More...
      jPOSTi
      Q7L5A8

      MaxQB - The MaxQuant DataBase

      More...
      MaxQBi
      Q7L5A8

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

      More...
      PaxDbi
      Q7L5A8

      PeptideAtlas

      More...
      PeptideAtlasi
      Q7L5A8

      PRoteomics IDEntifications database

      More...
      PRIDEi
      Q7L5A8

      ProteomicsDB human proteome resource

      More...
      ProteomicsDBi
      68806

      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 153 organ(s), highest expression level in C1 segment of cervical spinal cord

      ExpressionAtlas, Differential and Baseline Expression

      More...
      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
      HPA056614
      HPA077840

      <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

      Protein-protein interaction databases

      The Biological General Repository for Interaction Datasets (BioGrid)

      More...
      BioGridi
      122570, 5 interactors

      Protein interaction database and analysis system

      More...
      IntActi
      Q7L5A8, 26 interactors

      Molecular INTeraction database

      More...
      MINTi
      Q7L5A8

      STRING: functional protein association networks

      More...
      STRINGi
      9606.ENSP00000219368

      <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

      Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

      More...
      ProteinModelPortali
      Q7L5A8

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

      More...
      SMRi
      Q7L5A8

      Database of comparative protein structure models

      More...
      ModBasei
      Search...

      MobiDB: a database of protein disorder and mobility annotations

      More...
      MobiDBi
      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
      KOG0539 Eukaryota
      COG3000 LUCA

      Ensembl GeneTree

      More...
      GeneTreei
      ENSGT00390000002142

      The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

      More...
      HOGENOMi
      HOG000023981

      The HOVERGEN Database of Homologous Vertebrate Genes

      More...
      HOVERGENi
      HBG054265

      InParanoid: Eukaryotic Ortholog Groups

      More...
      InParanoidi
      Q7L5A8

      KEGG Orthology (KO)

      More...
      KOi
      K19703

      Identification of Orthologs from Complete Genome Data

      More...
      OMAi
      MEHLVDW

      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

      More...
      PIRSFi
      PIRSF005149 IPC-B_HD, 1 hit

      Protein Motif fingerprint database; a protein domain database

      More...
      PRINTSi
      PR00363 CYTOCHROMEB5

      Simple Modular Architecture Research Tool; a protein domain database

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

      Superfamily database of structural and functional annotation

      More...
      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>.<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 '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 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.

      Note: No experimental confirmation available.
      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

      More...
      EMBLi

      GenBank nucleotide sequence database

      More...
      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

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

      UniGene gene-oriented nucleotide sequence clusters

      More...
      UniGenei
      Hs.461329

      Genome annotation databases

      Ensembl eukaryotic genome annotation project

      More...
      Ensembli
      ENST00000219368; ENSP00000219368; ENSG00000103089 [Q7L5A8-1]

      Database of genes from NCBI RefSeq genomes

      More...
      GeneIDi
      79152

      KEGG: Kyoto Encyclopedia of Genes and Genomes

      More...
      KEGGi
      hsa:79152

      UCSC genome browser

      More...
      UCSCi
      uc002fde.3 human [Q7L5A8-1]

      Keywords - Coding sequence diversityi

      Alternative splicing, Polymorphism

      <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]
      UniGeneiHs.461329

      3D structure databases

      ProteinModelPortaliQ7L5A8
      SMRiQ7L5A8
      ModBaseiSearch...
      MobiDBiSearch...

      Protein-protein interaction databases

      BioGridi122570, 5 interactors
      IntActiQ7L5A8, 26 interactors
      MINTiQ7L5A8
      STRINGi9606.ENSP00000219368

      Chemistry databases

      SwissLipidsiSLP:000000328
      SLP:000000519

      PTM databases

      iPTMnetiQ7L5A8
      PhosphoSitePlusiQ7L5A8

      Polymorphism and mutation databases

      BioMutaiFA2H
      DMDMi74749893

      Proteomic databases

      EPDiQ7L5A8
      jPOSTiQ7L5A8
      MaxQBiQ7L5A8
      PaxDbiQ7L5A8
      PeptideAtlasiQ7L5A8
      PRIDEiQ7L5A8
      ProteomicsDBi68806

      Protocols and materials databases

      Structural Biology KnowledgebaseSearch...

      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
      EuPathDBiHostDB:ENSG00000103089.8

      GeneCards: human genes, protein and diseases

      More...
      GeneCardsi
      FA2H
      GeneReviewsiFA2H
      HGNCiHGNC:21197 FA2H
      HPAiHPA056614
      HPA077840
      MalaCardsiFA2H
      MIMi611026 gene
      612319 phenotype
      neXtProtiNX_Q7L5A8
      OpenTargetsiENSG00000103089
      Orphaneti171629 Autosomal recessive spastic paraplegia type 35
      329308 Fatty acid hydroxylase-associated neurodegeneration
      PharmGKBiPA145148065

      GenAtlas: human gene database

      More...
      GenAtlasi
      Search...

      Phylogenomic databases

      eggNOGiKOG0539 Eukaryota
      COG3000 LUCA
      GeneTreeiENSGT00390000002142
      HOGENOMiHOG000023981
      HOVERGENiHBG054265
      InParanoidiQ7L5A8
      KOiK19703
      OMAiMEHLVDW
      OrthoDBi1049908at2759
      PhylomeDBiQ7L5A8
      TreeFamiTF314955

      Enzyme and pathway databases

      UniPathwayi
      UPA00199

      UPA00787

      BioCyciMetaCyc:ENSG00000103089-MONOMER
      ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis

      Miscellaneous databases

      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

      Protein Ontology

      More...
      PROi
      PR:Q7L5A8

      The Stanford Online Universal Resource for Clones and ESTs

      More...
      SOURCEi
      Search...

      Gene expression databases

      BgeeiENSG00000103089 Expressed in 153 organ(s), highest expression level in C1 segment of cervical spinal cord
      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

      ProtoNet; Automatic hierarchical classification of proteins

      More...
      ProtoNeti
      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: February 13, 2019
      This is version 142 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

      Complete proteome, Reference proteome

      Documents

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