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Q8WTS1

- ABHD5_HUMAN

UniProt

Q8WTS1 - ABHD5_HUMAN

Protein

1-acylglycerol-3-phosphate O-acyltransferase ABHD5

Gene

ABHD5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 1 (01 Mar 2002)
      Previous versions | rss
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    Functioni

    Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte differentiation.3 Publications

    Catalytic activityi

    Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate.1 Publication

    GO - Molecular functioni

    1. 1-acylglycerol-3-phosphate O-acyltransferase activity Source: UniProtKB-EC
    2. lysophosphatidic acid acyltransferase activity Source: UniProtKB

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. fatty acid metabolic process Source: UniProtKB-KW
    3. negative regulation of sequestering of triglyceride Source: UniProtKB
    4. phosphatidic acid biosynthetic process Source: UniProtKB
    5. positive regulation of lipoprotein lipase activity Source: Ensembl
    6. positive regulation of triglyceride catabolic process Source: UniProtKB
    7. small molecule metabolic process Source: Reactome
    8. triglyceride catabolic process Source: Reactome

    Keywords - Molecular functioni

    Acyltransferase, Transferase

    Keywords - Biological processi

    Differentiation, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism

    Enzyme and pathway databases

    ReactomeiREACT_494. Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis.

    Protein family/group databases

    MEROPSiS33.975.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    1-acylglycerol-3-phosphate O-acyltransferase ABHD5 (EC:2.3.1.51)
    Alternative name(s):
    Abhydrolase domain-containing protein 5
    Lipid droplet-binding protein CGI-58
    Gene namesi
    Name:ABHD5
    Synonyms:NCIE2
    ORF Names:CGI-58
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:21396. ABHD5.

    Subcellular locationi

    Cytoplasm 1 Publication. Lipid droplet By similarity
    Note: Colocalized with PLIN and ADRP on the surface of lipid droplets. The localization is dependent upon the metabolic status of the adipocytes and the activity of PKA By similarity.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. cytosol Source: UniProtKB
    3. intracellular membrane-bounded organelle Source: HPA
    4. lipid particle Source: UniProtKB
    5. nucleus Source: HPA

    Keywords - Cellular componenti

    Cytoplasm, Lipid droplet

    Pathology & Biotechi

    Involvement in diseasei

    Chanarin-Dorfman syndrome (CDS) [MIM:275630]: An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71E → K in CDS. 1 Publication
    Corresponds to variant rs104893676 [ dbSNP | Ensembl ].
    VAR_023387
    Natural varianti82 – 821H → R Found in a patient with CDS but without evidence it may cause the disease. 1 Publication
    VAR_057953
    Natural varianti115 – 1151S → G in CDS. 1 Publication
    VAR_057954
    Natural varianti130 – 1301Q → P in CDS; loss of PNPLA2-dependent triacylclycerol hydrolysis but no effect on LPA acyltransferase activity. 1 Publication
    Corresponds to variant rs28939077 [ dbSNP | Ensembl ].
    VAR_023388
    Natural varianti260 – 2601E → K in CDS; loss of PNPLA2-dependent triacylclycerol hydrolysis but no effect on LPA acyltransferase activity. 1 Publication
    Corresponds to variant rs28939078 [ dbSNP | Ensembl ].
    VAR_023389

    Keywords - Diseasei

    Cataract, Deafness, Disease mutation, Ichthyosis

    Organism-specific databases

    MIMi275630. phenotype.
    Orphaneti98907. Dorfman-Chanarin disease.
    PharmGKBiPA134891622.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 3493481-acylglycerol-3-phosphate O-acyltransferase ABHD5PRO_0000080866Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ8WTS1.
    PaxDbiQ8WTS1.
    PeptideAtlasiQ8WTS1.
    PRIDEiQ8WTS1.

    PTM databases

    PhosphoSiteiQ8WTS1.

    Expressioni

    Tissue specificityi

    Widely expressed in various tissues, including lymphocytes, liver, skeletal muscle and brain. Expressed by upper epidermal layers and dermal fibroblasts in skin, hepatocytes and neurons (at protein level).2 Publications

    Developmental stagei

    Detected in fetal epidermis from 49 to 135 days estimated gestational age (at protein level).1 Publication

    Inductioni

    Up-regulated upon keratinocyte differentiation (at protein level).1 Publication

    Gene expression databases

    ArrayExpressiQ8WTS1.
    BgeeiQ8WTS1.
    CleanExiHS_ABHD5.
    GenevestigatoriQ8WTS1.

    Organism-specific databases

    HPAiCAB020685.
    HPA035851.
    HPA035852.

    Interactioni

    Subunit structurei

    Interacts with ADRP, PLIN and PNPLA2. Interacts with PLIN5; promotes interaction with PNPLA2 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi119288. 5 interactions.
    IntActiQ8WTS1. 3 interactions.
    MINTiMINT-4650384.
    STRINGi9606.ENSP00000390849.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WTS1.
    SMRiQ8WTS1. Positions 70-242.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi327 – 3326HXXXXD motif

    Domaini

    The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.By similarity

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0596.
    HOGENOMiHOG000007445.
    HOVERGENiHBG054445.
    InParanoidiQ8WTS1.
    KOiK13699.
    OMAiPWGFAEK.
    PhylomeDBiQ8WTS1.
    TreeFamiTF314196.

    Family and domain databases

    Gene3Di3.40.50.1820. 1 hit.
    InterProiIPR029058. AB_hydrolase.
    IPR000073. AB_hydrolase_1.
    [Graphical view]
    PRINTSiPR00111. ABHYDROLASE.
    SUPFAMiSSF53474. SSF53474. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q8WTS1-1 [UniParc]FASTAAdd to Basket

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    MAAEEEEVDS ADTGERSGWL TGWLPTWCPT SISHLKEAEE KMLKCVPCTY    50
    KKEPVRISNG NKIWTLKFSH NISNKTPLVL LHGFGGGLGL WALNFGDLCT 100
    NRPVYAFDLL GFGRSSRPRF DSDAEEVENQ FVESIEEWRC ALGLDKMILL 150
    GHNLGGFLAA AYSLKYPSRV NHLILVEPWG FPERPDLADQ DRPIPVWIRA 200
    LGAALTPFNP LAGLRIAGPF GLSLVQRLRP DFKRKYSSMF EDDTVTEYIY 250
    HCNVQTPSGE TAFKNMTIPY GWAKRPMLQR IGKMHPDIPV SVIFGARSCI 300
    DGNSGTSIQS LRPHSYVKTI AILGAGHYVY ADQPEEFNQK VKEICDTVD 349
    Length:349
    Mass (Da):39,096
    Last modified:March 1, 2002 - v1
    Checksum:i85958A2DEC169C82
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti263 – 2631F → S in AAD34053. (PubMed:10810093)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71E → K in CDS. 1 Publication
    Corresponds to variant rs104893676 [ dbSNP | Ensembl ].
    VAR_023387
    Natural varianti72 – 721I → T.
    Corresponds to variant rs2302349 [ dbSNP | Ensembl ].
    VAR_037574
    Natural varianti82 – 821H → R Found in a patient with CDS but without evidence it may cause the disease. 1 Publication
    VAR_057953
    Natural varianti115 – 1151S → G in CDS. 1 Publication
    VAR_057954
    Natural varianti130 – 1301Q → P in CDS; loss of PNPLA2-dependent triacylclycerol hydrolysis but no effect on LPA acyltransferase activity. 1 Publication
    Corresponds to variant rs28939077 [ dbSNP | Ensembl ].
    VAR_023388
    Natural varianti260 – 2601E → K in CDS; loss of PNPLA2-dependent triacylclycerol hydrolysis but no effect on LPA acyltransferase activity. 1 Publication
    Corresponds to variant rs28939078 [ dbSNP | Ensembl ].
    VAR_023389

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL606838 Genomic DNA. Translation: CAD12731.1.
    AF151816 mRNA. Translation: AAD34053.1.
    AK313811 mRNA. Translation: BAG36547.1.
    AC105903 Genomic DNA. No translation available.
    CH471055 Genomic DNA. Translation: EAW64699.1.
    BC021958 mRNA. Translation: AAH21958.1.
    CCDSiCCDS2711.1.
    RefSeqiNP_057090.2. NM_016006.4.
    UniGeneiHs.19385.

    Genome annotation databases

    EnsembliENST00000458276; ENSP00000390849; ENSG00000011198.
    GeneIDi51099.
    KEGGihsa:51099.
    UCSCiuc003cmx.3. human.

    Polymorphism databases

    DMDMi73921640.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL606838 Genomic DNA. Translation: CAD12731.1 .
    AF151816 mRNA. Translation: AAD34053.1 .
    AK313811 mRNA. Translation: BAG36547.1 .
    AC105903 Genomic DNA. No translation available.
    CH471055 Genomic DNA. Translation: EAW64699.1 .
    BC021958 mRNA. Translation: AAH21958.1 .
    CCDSi CCDS2711.1.
    RefSeqi NP_057090.2. NM_016006.4.
    UniGenei Hs.19385.

    3D structure databases

    ProteinModelPortali Q8WTS1.
    SMRi Q8WTS1. Positions 70-242.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119288. 5 interactions.
    IntActi Q8WTS1. 3 interactions.
    MINTi MINT-4650384.
    STRINGi 9606.ENSP00000390849.

    Protein family/group databases

    MEROPSi S33.975.

    PTM databases

    PhosphoSitei Q8WTS1.

    Polymorphism databases

    DMDMi 73921640.

    Proteomic databases

    MaxQBi Q8WTS1.
    PaxDbi Q8WTS1.
    PeptideAtlasi Q8WTS1.
    PRIDEi Q8WTS1.

    Protocols and materials databases

    DNASUi 51099.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000458276 ; ENSP00000390849 ; ENSG00000011198 .
    GeneIDi 51099.
    KEGGi hsa:51099.
    UCSCi uc003cmx.3. human.

    Organism-specific databases

    CTDi 51099.
    GeneCardsi GC03P043707.
    HGNCi HGNC:21396. ABHD5.
    HPAi CAB020685.
    HPA035851.
    HPA035852.
    MIMi 275630. phenotype.
    604780. gene.
    neXtProti NX_Q8WTS1.
    Orphaneti 98907. Dorfman-Chanarin disease.
    PharmGKBi PA134891622.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0596.
    HOGENOMi HOG000007445.
    HOVERGENi HBG054445.
    InParanoidi Q8WTS1.
    KOi K13699.
    OMAi PWGFAEK.
    PhylomeDBi Q8WTS1.
    TreeFami TF314196.

    Enzyme and pathway databases

    Reactomei REACT_494. Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis.

    Miscellaneous databases

    GeneWikii ABHD5.
    GenomeRNAii 51099.
    NextBioi 53805.
    PROi Q8WTS1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8WTS1.
    Bgeei Q8WTS1.
    CleanExi HS_ABHD5.
    Genevestigatori Q8WTS1.

    Family and domain databases

    Gene3Di 3.40.50.1820. 1 hit.
    InterProi IPR029058. AB_hydrolase.
    IPR000073. AB_hydrolase_1.
    [Graphical view ]
    PRINTSi PR00111. ABHYDROLASE.
    SUPFAMi SSF53474. SSF53474. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome."
      Lefevre C., Jobard F., Caux F., Bouadjar B., Karaduman A., Heilig R., Lakhdar H., Wollenberg A., Verret J.-L., Weissenbach J., Oezguec M., Lathrop M., Prud'homme J.-F., Fischer J.
      Am. J. Hum. Genet. 69:1002-1012(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, VARIANTS CDS LYS-7; PRO-130 AND LYS-260.
    2. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
      Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
      Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Substantia nigra.
    4. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Skin.
    7. "Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome."
      Lass A., Zimmermann R., Haemmerle G., Riederer M., Schoiswohl G., Schweiger M., Kienesberger P., Strauss J.G., Gorkiewicz G., Zechner R.
      Cell Metab. 3:309-319(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CHARACTERIZATION OF VARIANTS CDS PRO-130 AND LYS-260.
    8. "CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes."
      Akiyama M., Sakai K., Takayama C., Yanagi T., Yamanaka Y., McMillan J.R., Shimizu H.
      Am. J. Pathol. 173:1349-1360(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INDUCTION.
    9. "CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid."
      Ghosh A.K., Ramakrishnan G., Chandramohan C., Rajasekharan R.
      J. Biol. Chem. 283:24525-24533(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, CHARACTERIZATION OF VARIANTS CDS PRO-130 AND LYS-260.
    10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    11. "Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease."
      Schleinitz N., Fischer J., Sanchez A., Veit V., Harle J.-R., Pelissier J.-F.
      Arch. Dermatol. 141:798-800(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARG-82.
    12. "A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome."
      Ben Selma Z., Yilmaz S., Schischmanoff P.O., Blom A., Ozogul C., Laroche L., Caux F.
      J. Invest. Dermatol. 127:2273-2276(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDS GLY-115.

    Entry informationi

    Entry nameiABHD5_HUMAN
    AccessioniPrimary (citable) accession number: Q8WTS1
    Secondary accession number(s): B2R9K0, Q9Y369
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 30, 2005
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 119 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3