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Q96SE0

- ABHD1_HUMAN

UniProt

Q96SE0 - ABHD1_HUMAN

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Protein
Abhydrolase domain-containing protein 1
Gene
ABHD1, LABH1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei203 – 2031Charge relay system By similarity
Active sitei329 – 3291Charge relay system By similarity
Active sitei358 – 3581Charge relay system By similarity

GO - Molecular functioni

  1. hydrolase activity Source: UniProtKB-KW
Complete GO annotation...

GO - Biological processi

    Complete GO annotation...

    Keywords - Molecular functioni

    Hydrolase, Serine esterase

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Abhydrolase domain-containing protein 1 (EC:3.1.1.-)
    Alternative name(s):
    Lung alpha/beta hydrolase 1
    Gene namesi
    Name:ABHD1
    Synonyms:LABH1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:17553. ABHD1.

    Subcellular locationi

    Topology

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei17 – 3721Helical; Signal-anchor for type II membrane protein; Reviewed prediction
    Add
    BLAST

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB
    Complete GO annotation...

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38459.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 405405Abhydrolase domain-containing protein 1
    PRO_0000280204Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi10 – 101N-linked (GlcNAc...) Reviewed prediction

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PRIDEiQ96SE0.

    PTM databases

    PhosphoSiteiQ96SE0.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed.1 Publication

    Gene expression databases

    ArrayExpressiQ96SE0.
    BgeeiQ96SE0.
    CleanExiHS_ABHD1.
    GenevestigatoriQ96SE0.

    Organism-specific databases

    HPAiHPA044390.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000326491.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96SE0.

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0429.
    HOGENOMiHOG000230596.
    HOVERGENiHBG053994.
    InParanoidiQ96SE0.
    KOiK13696.
    OMAiGYQAVVF.
    PhylomeDBiQ96SE0.
    TreeFamiTF313195.

    Family and domain databases

    Gene3Di3.40.50.1820. 1 hit.
    InterProiIPR012020. AB-Hydro_YheT.
    IPR029058. AB_hydrolase.
    IPR000952. UPF0017_hydro-like_CS.
    [Graphical view]
    PIRSFiPIRSF005211. Ab_hydro_YheT. 1 hit.
    SUPFAMiSSF53474. SSF53474. 1 hit.
    PROSITEiPS01133. UPF0017. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96SE0-1) [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

    MLSSFLSPQN GTWADTFSLL LALAVALYLG YYWACVLQRP RLVAGPQFLA    50
    FLEPHCSITT ETFYPTLWCF EGRLQSIFQV LLQSQPLVLY QSDILQTPDG 100
    GQLLLDWAKQ PDSSQDPDPT TQPIVLLLPG ITGSSQDTYV LHLVNQALRD 150
    GYQAVVFNNR GCRGEELRTH RAFCASNTED LETVVNHIKH RYPQAPLLAV 200
    GISFGGILVL NHLAQARQAA GLVAALTLSA CWDSFETTRS LETPLNSLLF 250
    NQPLTAGLCQ LVERNRKVIE KVVDIDFVLQ ARTIRQFDER YTSVAFGYQD 300
    CVTYYKAASP RTKIDAIRIP VLYLSAADDP FSPVCALPIQ AAQHSPYVAL 350
    LITARGGHIG FLEGLLPWQH WYMSRLLHQY AKAIFQDPEG LPDLRALLPS 400
    EDRNS 405
    Length:405
    Mass (Da):45,207
    Last modified:October 5, 2010 - v2
    Checksum:i1D0BDEB8FB79C511
    GO
    Isoform 2 (identifier: Q96SE0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         265-305: NRKVIEKVVD...FGYQDCVTYY → LSYGKTCRPV...TTKQQALEPR
         306-405: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:305
    Mass (Da):33,754
    Checksum:iD1E61C49C33DB947
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541P → Q.
    Corresponds to variant rs34127901 [ dbSNP | Ensembl ].
    VAR_052484
    Natural varianti137 – 1371D → E.3 Publications
    Corresponds to variant rs6715286 [ dbSNP | Ensembl ].
    VAR_031087
    Natural varianti371 – 3711W → C.
    Corresponds to variant rs2304678 [ dbSNP | Ensembl ].
    VAR_031088

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei265 – 30541NRKVI…CVTYY → LSYGKTCRPVQSASLMSATH LWPLDIKTVLPTTKQQALEP R in isoform 2.
    VSP_054269Add
    BLAST
    Alternative sequencei306 – 405100Missing in isoform 2.
    VSP_054270Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY033290 mRNA. Translation: AAK44222.1.
    AK093447 mRNA. Translation: BAG52718.1.
    AC013403 Genomic DNA. Translation: AAX93169.1.
    CH471053 Genomic DNA. Translation: EAX00633.1.
    BC039576 mRNA. Translation: AAH39576.2.
    CCDSiCCDS1736.1. [Q96SE0-1]
    RefSeqiNP_115993.3. NM_032604.3.
    UniGeneiHs.375791.

    Genome annotation databases

    EnsembliENST00000316470; ENSP00000326491; ENSG00000143994.
    ENST00000448950; ENSP00000410756; ENSG00000143994.
    GeneIDi84696.
    KEGGihsa:84696.
    UCSCiuc002rit.3. human. [Q96SE0-1]

    Polymorphism databases

    DMDMi308153404.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY033290 mRNA. Translation: AAK44222.1 .
    AK093447 mRNA. Translation: BAG52718.1 .
    AC013403 Genomic DNA. Translation: AAX93169.1 .
    CH471053 Genomic DNA. Translation: EAX00633.1 .
    BC039576 mRNA. Translation: AAH39576.2 .
    CCDSi CCDS1736.1. [Q96SE0-1 ]
    RefSeqi NP_115993.3. NM_032604.3.
    UniGenei Hs.375791.

    3D structure databases

    ProteinModelPortali Q96SE0.
    ModBasei Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000326491.

    PTM databases

    PhosphoSitei Q96SE0.

    Polymorphism databases

    DMDMi 308153404.

    Proteomic databases

    PRIDEi Q96SE0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316470 ; ENSP00000326491 ; ENSG00000143994 .
    ENST00000448950 ; ENSP00000410756 ; ENSG00000143994 .
    GeneIDi 84696.
    KEGGi hsa:84696.
    UCSCi uc002rit.3. human. [Q96SE0-1 ]

    Organism-specific databases

    CTDi 84696.
    GeneCardsi GC02P027349.
    HGNCi HGNC:17553. ABHD1.
    HPAi HPA044390.
    MIMi 612195. gene.
    neXtProti NX_Q96SE0.
    PharmGKBi PA38459.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0429.
    HOGENOMi HOG000230596.
    HOVERGENi HBG053994.
    InParanoidi Q96SE0.
    KOi K13696.
    OMAi GYQAVVF.
    PhylomeDBi Q96SE0.
    TreeFami TF313195.

    Miscellaneous databases

    GenomeRNAii 84696.
    NextBioi 35469704.
    PROi Q96SE0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96SE0.
    Bgeei Q96SE0.
    CleanExi HS_ABHD1.
    Genevestigatori Q96SE0.

    Family and domain databases

    Gene3Di 3.40.50.1820. 1 hit.
    InterProi IPR012020. AB-Hydro_YheT.
    IPR029058. AB_hydrolase.
    IPR000952. UPF0017_hydro-like_CS.
    [Graphical view ]
    PIRSFi PIRSF005211. Ab_hydro_YheT. 1 hit.
    SUPFAMi SSF53474. SSF53474. 1 hit.
    PROSITEi PS01133. UPF0017. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    « Hide 'large scale' publications
    1. "The gene structure and expression of human ABHD1: overlapping polyadenylation signal sequence with Sec12."
      Edgar A.J.
      BMC Genomics 4:18-18(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT GLU-137.
      Tissue: Lung.
    2. "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] (ISOFORM 2), VARIANT GLU-137.
      Tissue: Testis.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 1), VARIANT GLU-137.
      Tissue: Brain.

    Entry informationi

    Entry nameiABHD1_HUMAN
    AccessioniPrimary (citable) accession number: Q96SE0
    Secondary accession number(s): B3KSF6
    , E9PDR9, Q05BY3, Q53SZ1, Q8IXQ7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: October 5, 2010
    Last modified: September 3, 2014
    This is version 87 of the entry and version 2 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 2
      Human chromosome 2: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3

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