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Q8NFV4

- ABHDB_HUMAN

UniProt

Q8NFV4 - ABHDB_HUMAN

Protein

Alpha/beta hydrolase domain-containing protein 11

Gene

ABHD11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei141 – 1411Charge relay systemBy similarity
    Active sitei237 – 2371Charge relay systemBy similarity
    Active sitei296 – 2961Charge relay systemBy similarity

    GO - Molecular functioni

    1. hydrolase activity Source: UniProtKB-KW

    Keywords - Molecular functioni

    Hydrolase

    Protein family/group databases

    MEROPSiS33.976.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alpha/beta hydrolase domain-containing protein 11 (EC:3.-.-.-)
    Short name:
    Abhydrolase domain-containing protein 11
    Alternative name(s):
    Williams-Beuren syndrome chromosomal region 21 protein
    Gene namesi
    Name:ABHD11
    Synonyms:WBSCR21
    ORF Names:PP1226
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:16407. ABHD11.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrion Source: Ensembl

    Pathology & Biotechi

    Involvement in diseasei

    ABHD11 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

    Keywords - Diseasei

    Williams-Beuren syndrome

    Organism-specific databases

    PharmGKBiPA38134.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 315315Alpha/beta hydrolase domain-containing protein 11PRO_0000281003Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei87 – 871N6-succinyllysineBy similarity

    Proteomic databases

    MaxQBiQ8NFV4.
    PaxDbiQ8NFV4.
    PRIDEiQ8NFV4.

    PTM databases

    PhosphoSiteiQ8NFV4.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed.1 Publication

    Gene expression databases

    ArrayExpressiQ8NFV4.
    BgeeiQ8NFV4.
    CleanExiHS_ABHD11.
    GenevestigatoriQ8NFV4.

    Organism-specific databases

    HPAiHPA024042.
    HPA049641.

    Interactioni

    Protein-protein interaction databases

    BioGridi123653. 5 interactions.
    STRINGi9606.ENSP00000222800.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NFV4.
    SMRiQ8NFV4. Positions 69-314.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the AB hydrolase superfamily.Curated

    Phylogenomic databases

    eggNOGiCOG0596.
    HOVERGENiHBG080815.
    InParanoidiQ8NFV4.
    KOiK13703.
    OMAiSHHAEIR.
    PhylomeDBiQ8NFV4.
    TreeFamiTF314071.

    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.

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NFV4-1) [UniParc]FASTAAdd to Basket

    Also known as: A

    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

    MRAGQQLASM LRWTRAWRLP REGLGPHGPS FARVPVAPSS SSGGRGGAEP    50
    RPLPLSYRLL DGEAALPAVV FLHGLFGSKT NFNSIAKILA QQTGRRVLTV 100
    DARNHGDSPH SPDMSYEIMS QDLQDLLPQL GLVPCVVVGH SMGGKTAMLL 150
    ALQRPELVER LIAVDISPVE STGVSHFATY VAAMRAINIA DELPRSRARK 200
    LADEQLSSVI QDMAVRQHLL TNLVEVDGRF VWRVNLDALT QHLDKILAFP 250
    QRQESYLGPT LFLLGGNSQF VHPSHHPEIM RLFPRAQMQT VPNAGHWIHA 300
    DRPQDFIAAI RGFLV 315
    Length:315
    Mass (Da):34,690
    Last modified:October 1, 2002 - v1
    Checksum:i108A2A9ED4FCA866
    GO
    Isoform 2 (identifier: Q8NFV4-2) [UniParc]FASTAAdd to Basket

    Also known as: B

    The sequence of this isoform differs from the canonical sequence as follows:
         96-101: RVLTVD → ADGGCS
         102-315: Missing.

    Show »
    Length:101
    Mass (Da):10,639
    Checksum:i76C9F062C99779CB
    GO
    Isoform 3 (identifier: Q8NFV4-3) [UniParc]FASTAAdd to Basket

    Also known as: C

    The sequence of this isoform differs from the canonical sequence as follows:
         97-97: V → G
         98-315: Missing.

    Show »
    Length:97
    Mass (Da):10,362
    Checksum:i9B5EA9CB02195B7C
    GO
    Isoform 4 (identifier: Q8NFV4-4) [UniParc]FASTAAdd to Basket

    Also known as: D

    The sequence of this isoform differs from the canonical sequence as follows:
         51-57: Missing.

    Show »
    Length:308
    Mass (Da):33,863
    Checksum:i9F0658259A86D22B
    GO
    Isoform 5 (identifier: Q8NFV4-5) [UniParc]FASTAAdd to Basket

    Also known as: E

    The sequence of this isoform differs from the canonical sequence as follows:
         51-57: Missing.
         125-152: DLLPQLGLVPCVVVGHSMGGKTAMLLAL → PAPHLGTEGLRQALCGHEVLQGWSDLRL
         153-315: Missing.

    Show »
    Length:145
    Mass (Da):15,640
    Checksum:i0593926C8FA8D294
    GO
    Isoform 6 (identifier: Q8NFV4-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         155-211: Missing.

    Note: Gene prediction based on EST data.

    Show »
    Length:258
    Mass (Da):28,473
    Checksum:i4A86D8509A583128
    GO

    Sequence cautioni

    The sequence AAS07472.1 differs from that shown. Reason: Erroneous gene model prediction.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei51 – 577Missing in isoform 4 and isoform 5. 1 PublicationVSP_023924
    Alternative sequencei96 – 1016RVLTVD → ADGGCS in isoform 2. 2 PublicationsVSP_023925
    Alternative sequencei97 – 971V → G in isoform 3. 1 PublicationVSP_023926
    Alternative sequencei98 – 315218Missing in isoform 3. 1 PublicationVSP_023927Add
    BLAST
    Alternative sequencei102 – 315214Missing in isoform 2. 2 PublicationsVSP_023928Add
    BLAST
    Alternative sequencei125 – 15228DLLPQ…MLLAL → PAPHLGTEGLRQALCGHEVL QGWSDLRL in isoform 5. 1 PublicationVSP_023929Add
    BLAST
    Alternative sequencei153 – 315163Missing in isoform 5. 1 PublicationVSP_023930Add
    BLAST
    Alternative sequencei155 – 21157Missing in isoform 6. CuratedVSP_046994Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF412030 mRNA. Translation: AAM62312.1.
    AF412031 mRNA. Translation: AAM62313.1.
    AF412032 mRNA. Translation: AAM62314.1.
    AY053499 mRNA. Translation: AAL14848.1.
    AY053500 mRNA. Translation: AAL14849.1.
    AC073846 Genomic DNA. Translation: AAS07472.1. Sequence problems.
    BC008251 mRNA. Translation: AAH08251.2.
    BC011712 mRNA. Translation: AAH11712.1.
    BC067750 mRNA. Translation: AAH67750.1.
    AF217971 mRNA. Translation: AAG17214.1. Sequence problems.
    CCDSiCCDS47607.1. [Q8NFV4-6]
    CCDS47608.1. [Q8NFV4-4]
    CCDS5558.1. [Q8NFV4-1]
    RefSeqiNP_001138836.1. NM_001145364.1. [Q8NFV4-6]
    NP_683710.1. NM_148912.2. [Q8NFV4-1]
    NP_683711.1. NM_148913.2. [Q8NFV4-4]
    UniGeneiHs.647045.

    Genome annotation databases

    EnsembliENST00000222800; ENSP00000222800; ENSG00000106077. [Q8NFV4-1]
    ENST00000357419; ENSP00000392945; ENSG00000106077. [Q8NFV4-2]
    ENST00000395147; ENSP00000378579; ENSG00000106077. [Q8NFV4-6]
    ENST00000437775; ENSP00000416970; ENSG00000106077. [Q8NFV4-4]
    GeneIDi83451.
    KEGGihsa:83451.
    UCSCiuc003tza.3. human. [Q8NFV4-1]
    uc003tzc.3. human. [Q8NFV4-4]
    uc003tzf.3. human. [Q8NFV4-3]

    Polymorphism databases

    DMDMi74751292.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF412030 mRNA. Translation: AAM62312.1 .
    AF412031 mRNA. Translation: AAM62313.1 .
    AF412032 mRNA. Translation: AAM62314.1 .
    AY053499 mRNA. Translation: AAL14848.1 .
    AY053500 mRNA. Translation: AAL14849.1 .
    AC073846 Genomic DNA. Translation: AAS07472.1 . Sequence problems.
    BC008251 mRNA. Translation: AAH08251.2 .
    BC011712 mRNA. Translation: AAH11712.1 .
    BC067750 mRNA. Translation: AAH67750.1 .
    AF217971 mRNA. Translation: AAG17214.1 . Sequence problems.
    CCDSi CCDS47607.1. [Q8NFV4-6 ]
    CCDS47608.1. [Q8NFV4-4 ]
    CCDS5558.1. [Q8NFV4-1 ]
    RefSeqi NP_001138836.1. NM_001145364.1. [Q8NFV4-6 ]
    NP_683710.1. NM_148912.2. [Q8NFV4-1 ]
    NP_683711.1. NM_148913.2. [Q8NFV4-4 ]
    UniGenei Hs.647045.

    3D structure databases

    ProteinModelPortali Q8NFV4.
    SMRi Q8NFV4. Positions 69-314.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123653. 5 interactions.
    STRINGi 9606.ENSP00000222800.

    Chemistry

    ChEMBLi CHEMBL2189134.

    Protein family/group databases

    MEROPSi S33.976.

    PTM databases

    PhosphoSitei Q8NFV4.

    Polymorphism databases

    DMDMi 74751292.

    Proteomic databases

    MaxQBi Q8NFV4.
    PaxDbi Q8NFV4.
    PRIDEi Q8NFV4.

    Protocols and materials databases

    DNASUi 83451.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000222800 ; ENSP00000222800 ; ENSG00000106077 . [Q8NFV4-1 ]
    ENST00000357419 ; ENSP00000392945 ; ENSG00000106077 . [Q8NFV4-2 ]
    ENST00000395147 ; ENSP00000378579 ; ENSG00000106077 . [Q8NFV4-6 ]
    ENST00000437775 ; ENSP00000416970 ; ENSG00000106077 . [Q8NFV4-4 ]
    GeneIDi 83451.
    KEGGi hsa:83451.
    UCSCi uc003tza.3. human. [Q8NFV4-1 ]
    uc003tzc.3. human. [Q8NFV4-4 ]
    uc003tzf.3. human. [Q8NFV4-3 ]

    Organism-specific databases

    CTDi 83451.
    GeneCardsi GC07M073150.
    HGNCi HGNC:16407. ABHD11.
    HPAi HPA024042.
    HPA049641.
    neXtProti NX_Q8NFV4.
    PharmGKBi PA38134.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0596.
    HOVERGENi HBG080815.
    InParanoidi Q8NFV4.
    KOi K13703.
    OMAi SHHAEIR.
    PhylomeDBi Q8NFV4.
    TreeFami TF314071.

    Miscellaneous databases

    ChiTaRSi ABHD11. human.
    GeneWikii ABHD11.
    GenomeRNAii 83451.
    NextBioi 72370.
    PROi Q8NFV4.

    Gene expression databases

    ArrayExpressi Q8NFV4.
    Bgeei Q8NFV4.
    CleanExi HS_ABHD11.
    Genevestigatori Q8NFV4.

    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. "Identification of additional transcripts in the Williams-Beuren syndrome critical region."
      Merla G., Ucla C., Guipponi M., Reymond A.
      Hum. Genet. 110:429-438(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), TISSUE SPECIFICITY.
    2. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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).
      Tissue: Eye, Lung and Testis.
    4. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
      Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
      , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
      Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-315 (ISOFORM 2).

    Entry informationi

    Entry nameiABHDB_HUMAN
    AccessioniPrimary (citable) accession number: Q8NFV4
    Secondary accession number(s): H7BYM8
    , Q6PJU0, Q8N722, Q8N723, Q8NFV2, Q8NFV3, Q9HBS8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 101 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 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3