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Protein

Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1

Gene

HACD1

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

Isoform 1: Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.1 Publication
Isoform 2: In tooth development, may play a role in the recruitment and the differentiation of cells that contribute to cementum formation. May also bind hydroxyapatite and regulate its crystal nucleation to form cementum.1 Publication

Caution

Isoform 1 shares some similarity with tyrosine phosphatase proteins but it has probably no phosphatase activity.By similarity1 Publication

<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 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

  1. KM=33.6 µM for 3-hydroxypalmitoyl-CoA (at 37 degrees Celsius)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 biosynthesis

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

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei210By similarity1
    Active sitei217By 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 functionDevelopmental protein, Lyase
    Biological processFatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism

    Enzyme and pathway databases

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs

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

    More...
    UniPathwayi
    UPA00094

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000000435

    <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:
    Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1Curated (EC:4.2.1.1342 Publications)
    Alternative name(s):
    3-hydroxyacyl-CoA dehydratase 11 Publication
    Short name:
    HACD11 Publication
    Cementum-attachment protein1 Publication
    Short name:
    CAP1 Publication
    Protein-tyrosine phosphatase-like member AImported
    <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:HACD11 PublicationImported
    Synonyms:PTPLA
    <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 10

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000165996.13

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:9639 HACD1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    610467 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_B0YJ81

    <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 subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 75CytoplasmicSequence analysisAdd BLAST75
    <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>Transmembranei76 – 95HelicalSequence analysisAdd BLAST20
    Topological domaini96 – 114LumenalSequence analysisAdd BLAST19
    Transmembranei115 – 131HelicalSequence analysisAdd BLAST17
    Topological domaini132 – 141CytoplasmicSequence analysis10
    Transmembranei142 – 159HelicalSequence analysisAdd BLAST18
    Topological domaini160 – 165LumenalSequence analysis6
    Transmembranei166 – 180HelicalSequence analysisAdd BLAST15
    Topological domaini181 – 203CytoplasmicSequence analysisAdd BLAST23
    Transmembranei204 – 221HelicalSequence analysisAdd BLAST18
    Topological domaini222 – 251LumenalSequence analysisAdd BLAST30
    Transmembranei252 – 269HelicalSequence analysisAdd BLAST18
    Topological domaini270 – 288CytoplasmicSequence analysisAdd BLAST19

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    <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

    Myopathy, congenital, with fiber-type disproportion (CFTD)1 Publication
    The gene represented in this entry may be involved in disease pathogenesis. A loss-of-function mutation that segregates with the disease was found in four members of a consanguineous family and not identified in unaffected controls. The mutation affects the expression of the mRNA and the produced protein is catalytically inactive.1 Publication
    Disease descriptionA genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions.
    See also OMIM:255310

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    9200

    MalaCards human disease database

    More...
    MalaCardsi
    HACD1
    MIMi255310 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000165996

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

    More...
    Orphaneti
    2020 Congenital fiber-type disproportion myopathy

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA33982

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    PTPLA

    <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_00003493151 – 288Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1Add BLAST288

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei22PhosphoserineCombined sources1
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi243N-linked (GlcNAc...) asparagineSequence analysis1

    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

    N-glycosylated.1 Publication

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    B0YJ81

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    B0YJ81

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

    More...
    PaxDbi
    B0YJ81

    PRoteomics IDEntifications database

    More...
    PRIDEi
    B0YJ81

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    2882
    2883 [B0YJ81-2]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    B0YJ81

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

    More...
    PhosphoSitePlusi
    B0YJ81

    <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

    Isoform 1 is highly expressed in the myocardium, and to a lesser extent in skeletal and smooth muscular tissues including those from stomach, jejunum, and bladder. Also detected in gingival fibroblasts, periodontal ligament cells, osteoblasts and cementoblasts (PubMed:11054553, PubMed:22067203). Isoform 2 is specifically expressed by cementoblasts but also detected in periodontal ligament cells, heart, liver and kidney (at protein level) (PubMed:22067203).2 Publications

    <p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

    Isoform 1 is expressed in fetal heart.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000165996 Expressed in 199 organ(s), highest expression level in heart

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_PTPLA

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    B0YJ81 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    B0YJ81 HS

    <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 the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Isoform 1: May interact with enzymes of the ELO family (including ELOVL1); with those enzymes that mediate condensation, the first of the four steps of the reaction cycle responsible for fatty acids elongation, may be part of a larger fatty acids elongase complex (PubMed:18554506). Isoform 2: Homooligomer. Self-assembles into spheres which then aggregates to form strings and a meshwork that may support hydroxyapatite crystal nucleation (PubMed:25263524).2 Publications

    GO - Molecular functioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    114634, 18 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    B0YJ81, 16 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000355308

    <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
    B0YJ81

    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

    <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
    KOG3187 Eukaryota
    COG5198 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00530000062962

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000190538

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG057518

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    B0YJ81

    KEGG Orthology (KO)

    More...
    KOi
    K10703

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    TKLYLFA

    Database of Orthologous Groups

    More...
    OrthoDBi
    EOG091G0Q7P

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    B0YJ81

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF313326

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR007482 Tyr_Pase-like_PTPLA

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR11035 PTHR11035, 1 hit

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF04387 PTPLA, 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: B0YJ81-1) [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
    MGRLTEAAAA GSGSRAAGWA GSPPTLLPLS PTSPRCAATM ASSDEDGTNG
    60 70 80 90 100
    GASEAGEDRE APGERRRLGV LATAWLTFYD IAMTAGWLVL AIAMVRFYME
    110 120 130 140 150
    KGTHRGLYKS IQKTLKFFQT FALLEIVHCL IGIVPTSVIV TGVQVSSRIF
    160 170 180 190 200
    MVWLITHSIK PIQNEESVVL FLVAWTVTEI TRYSFYTFSL LDHLPYFIKW
    210 220 230 240 250
    ARYNFFIILY PVGVAGELLT IYAALPHVKK TGMFSIRLPN KYNVSFDYYY
    260 270 280
    FLLITMASYI PLFPQLYFHM LRQRRKVLHG EVIVEKDD
    Length:288
    Mass (Da):32,388
    Last modified:April 8, 2008 - 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:i1CB64F23C3907F6E
    GO
    Isoform 2 (identifier: B0YJ81-2) [UniParc]FASTAAdd to basket
    Also known as: CAP, cementum-attachment protein, PTPLA-CAP1 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         126-140: IVHCLIGIVPTSVIV → VSFPSCCFSIAVIFM
         141-288: Missing.

    Note: Catalytically inactive since it lacks the active site but may have an alternative function.1 Publication
    Show »
    Length:140
    Mass (Da):14,920
    Checksum:i21870B3D77BD5ECE
    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
    J3KS69J3KS69_HUMAN
    Very-long-chain (3R)-3-hydroxyacyl-...
    HACD1
    174Annotation score:

    Annotation score:3 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>
    J3KT94J3KT94_HUMAN
    Very-long-chain (3R)-3-hydroxyacyl-...
    HACD1
    37Annotation score:

    Annotation score:2 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>
    A6NP58A6NP58_HUMAN
    Very-long-chain (3R)-3-hydroxyacyl-...
    HACD1
    158Annotation 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 AAG10713 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
    The sequence ACA06059 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 conflicti80D → N in AAF21976 (PubMed:10644438).Curated1

    Natural variant

    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_04636664E → K3 PublicationsCorresponds to variant dbSNP:rs7895850Ensembl.1
    Natural variantiVAR_04636764E → Q1 PublicationCorresponds to variant dbSNP:rs7895850Ensembl.1
    Natural variantiVAR_04636870V → F2 PublicationsCorresponds to variant dbSNP:rs11254692Ensembl.1
    Natural variantiVAR_046369227H → Y2 PublicationsCorresponds to variant dbSNP:rs1053926Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_035363126 – 140IVHCL…TSVIV → VSFPSCCFSIAVIFM in isoform 2. 1 PublicationAdd BLAST15
    Alternative sequenceiVSP_035364141 – 288Missing in isoform 2. 1 PublicationAdd BLAST148

    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
    AF266852
    , AF266848, AF266849, AF266850, AF266851 Genomic DNA Translation: AAG10713.1 Different initiation.
    AF114494 mRNA Translation: AAF21976.1
    AY455942 mRNA Translation: AAR22554.1
    EF445016 Genomic DNA Translation: ACA06059.1 Different initiation.
    EF445016 Genomic DNA Translation: ACA06060.1
    EF445016 Genomic DNA Translation: ACA06061.1
    AC069542 Genomic DNA No translation available.
    BC010353 mRNA Translation: AAH10353.1
    CR608689 mRNA No translation available.

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS7121.1 [B0YJ81-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_055056.3, NM_014241.3 [B0YJ81-1]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.114062

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000361271; ENSP00000355308; ENSG00000165996 [B0YJ81-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    9200

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:9200

    UCSC genome browser

    More...
    UCSCi
    uc001ipg.4 human [B0YJ81-1]

    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
    AF266852
    , AF266848, AF266849, AF266850, AF266851 Genomic DNA Translation: AAG10713.1 Different initiation.
    AF114494 mRNA Translation: AAF21976.1
    AY455942 mRNA Translation: AAR22554.1
    EF445016 Genomic DNA Translation: ACA06059.1 Different initiation.
    EF445016 Genomic DNA Translation: ACA06060.1
    EF445016 Genomic DNA Translation: ACA06061.1
    AC069542 Genomic DNA No translation available.
    BC010353 mRNA Translation: AAH10353.1
    CR608689 mRNA No translation available.
    CCDSiCCDS7121.1 [B0YJ81-1]
    RefSeqiNP_055056.3, NM_014241.3 [B0YJ81-1]
    UniGeneiHs.114062

    3D structure databases

    ProteinModelPortaliB0YJ81
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi114634, 18 interactors
    IntActiB0YJ81, 16 interactors
    STRINGi9606.ENSP00000355308

    Chemistry databases

    SwissLipidsiSLP:000000435

    PTM databases

    iPTMnetiB0YJ81
    PhosphoSitePlusiB0YJ81

    Polymorphism and mutation databases

    BioMutaiPTPLA

    Proteomic databases

    EPDiB0YJ81
    MaxQBiB0YJ81
    PaxDbiB0YJ81
    PRIDEiB0YJ81
    ProteomicsDBi2882
    2883 [B0YJ81-2]

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    9200
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000361271; ENSP00000355308; ENSG00000165996 [B0YJ81-1]
    GeneIDi9200
    KEGGihsa:9200
    UCSCiuc001ipg.4 human [B0YJ81-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    9200
    DisGeNETi9200
    EuPathDBiHostDB:ENSG00000165996.13

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    HACD1

    H-Invitational Database, human transcriptome db

    More...
    H-InvDBi
    HIX0008683
    HGNCiHGNC:9639 HACD1
    MalaCardsiHACD1
    MIMi255310 phenotype
    610467 gene
    neXtProtiNX_B0YJ81
    OpenTargetsiENSG00000165996
    Orphaneti2020 Congenital fiber-type disproportion myopathy
    PharmGKBiPA33982

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG3187 Eukaryota
    COG5198 LUCA
    GeneTreeiENSGT00530000062962
    HOGENOMiHOG000190538
    HOVERGENiHBG057518
    InParanoidiB0YJ81
    KOiK10703
    OMAiTKLYLFA
    OrthoDBiEOG091G0Q7P
    PhylomeDBiB0YJ81
    TreeFamiTF313326

    Enzyme and pathway databases

    UniPathwayi
    UPA00094

    ReactomeiR-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs

    Miscellaneous databases

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

    More...
    ChiTaRSi
    HACD1 human

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

    More...
    GenomeRNAii
    9200

    Protein Ontology

    More...
    PROi
    PR:B0YJ81

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000165996 Expressed in 199 organ(s), highest expression level in heart
    CleanExiHS_PTPLA
    ExpressionAtlasiB0YJ81 baseline and differential
    GenevisibleiB0YJ81 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR007482 Tyr_Pase-like_PTPLA
    PANTHERiPTHR11035 PTHR11035, 1 hit
    PfamiView protein in Pfam
    PF04387 PTPLA, 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 nameiHACD1_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: B0YJ81
    Secondary accession number(s): B0YJ80
    , Q6JIC5, Q96FW7, Q9HB93, Q9UHX2
    <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: September 2, 2008
    Last sequence update: April 8, 2008
    Last modified: December 5, 2018
    This is version 94 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. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    5. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
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