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Q8NFV4

- ABHDB_HUMAN

UniProt

Q8NFV4 - ABHDB_HUMAN

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Protein

Alpha/beta hydrolase domain-containing protein 11

Gene
ABHD11, WBSCR21, PP1226
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

Sites

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

GO - Molecular functioni

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

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
Complete GO annotation...

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-succinyllysine By 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.

Family & Domainsi

Sequence similaritiesi

Belongs to the AB hydrolase superfamily.

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. VSP_023924
Alternative sequencei96 – 1016RVLTVD → ADGGCS in isoform 2. VSP_023925
Alternative sequencei97 – 971V → G in isoform 3. VSP_023926
Alternative sequencei98 – 315218Missing in isoform 3. VSP_023927Add
BLAST
Alternative sequencei102 – 315214Missing in isoform 2. VSP_023928Add
BLAST
Alternative sequencei125 – 15228DLLPQ…MLLAL → PAPHLGTEGLRQALCGHEVL QGWSDLRL in isoform 5. VSP_023929Add
BLAST
Alternative sequencei153 – 315163Missing in isoform 5. VSP_023930Add
BLAST
Alternative sequencei155 – 21157Missing in isoform 6. VSP_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]
ENST00000571470; ENSP00000459182; ENSG00000262947. [Q8NFV4-6]
ENST00000571672; ENSP00000461270; ENSG00000262947. [Q8NFV4-2]
ENST00000575418; ENSP00000461523; ENSG00000262947. [Q8NFV4-4]
ENST00000577109; ENSP00000461104; ENSG00000262947. [Q8NFV4-1]
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 ]
ENST00000571470 ; ENSP00000459182 ; ENSG00000262947 . [Q8NFV4-6 ]
ENST00000571672 ; ENSP00000461270 ; ENSG00000262947 . [Q8NFV4-2 ]
ENST00000575418 ; ENSP00000461523 ; ENSG00000262947 . [Q8NFV4-4 ]
ENST00000577109 ; ENSP00000461104 ; ENSG00000262947 . [Q8NFV4-1 ]
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 100 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

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