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Q8NFV4 (ABHDB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Alpha/beta hydrolase domain-containing protein 11

Short name=Abhydrolase domain-containing protein 11
EC=3.-.-.-
Alternative name(s):
Williams-Beuren syndrome chromosomal region 21 protein
Gene names
Name:ABHD11
Synonyms:WBSCR21
ORF Names:PP1226
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length315 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Tissue specificity

Ubiquitously expressed. Ref.1

Involvement in disease

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.

Sequence similarities

Belongs to the AB hydrolase superfamily.

Caution

It is uncertain whether Met-1 or Met-10 is the initiator.

Sequence caution

The sequence AAG17214.1 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.

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

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
   DiseaseWilliams-Beuren syndrome
   Molecular functionHydrolase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentmitochondrion

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionhydrolase activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NFV4-1)

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.
Isoform 2 (identifier: Q8NFV4-2)

Also known as: B;

The sequence of this isoform differs from the canonical sequence as follows:
     96-101: RVLTVD → ADGGCS
     102-315: Missing.
Isoform 3 (identifier: Q8NFV4-3)

Also known as: C;

The sequence of this isoform differs from the canonical sequence as follows:
     97-97: V → G
     98-315: Missing.
Isoform 4 (identifier: Q8NFV4-4)

Also known as: D;

The sequence of this isoform differs from the canonical sequence as follows:
     51-57: Missing.
Isoform 5 (identifier: Q8NFV4-5)

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.
Isoform 6 (identifier: Q8NFV4-6)

The sequence of this isoform differs from the canonical sequence as follows:
     155-211: Missing.
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 315315Alpha/beta hydrolase domain-containing protein 11
PRO_0000281003

Sites

Active site1411Charge relay system By similarity
Active site2371Charge relay system By similarity
Active site2961Charge relay system By similarity

Amino acid modifications

Modified residue871N6-succinyllysine By similarity

Natural variations

Alternative sequence51 – 577Missing in isoform 4 and isoform 5.
VSP_023924
Alternative sequence96 – 1016RVLTVD → ADGGCS in isoform 2.
VSP_023925
Alternative sequence971V → G in isoform 3.
VSP_023926
Alternative sequence98 – 315218Missing in isoform 3.
VSP_023927
Alternative sequence102 – 315214Missing in isoform 2.
VSP_023928
Alternative sequence125 – 15228DLLPQ…MLLAL → PAPHLGTEGLRQALCGHEVL QGWSDLRL in isoform 5.
VSP_023929
Alternative sequence153 – 315163Missing in isoform 5.
VSP_023930
Alternative sequence155 – 21157Missing in isoform 6.
VSP_046994

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (A) [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 108A2A9ED4FCA866

FASTA31534,690
        10         20         30         40         50         60 
MRAGQQLASM LRWTRAWRLP REGLGPHGPS FARVPVAPSS SSGGRGGAEP RPLPLSYRLL 

        70         80         90        100        110        120 
DGEAALPAVV FLHGLFGSKT NFNSIAKILA QQTGRRVLTV DARNHGDSPH SPDMSYEIMS 

       130        140        150        160        170        180 
QDLQDLLPQL GLVPCVVVGH SMGGKTAMLL ALQRPELVER LIAVDISPVE STGVSHFATY 

       190        200        210        220        230        240 
VAAMRAINIA DELPRSRARK LADEQLSSVI QDMAVRQHLL TNLVEVDGRF VWRVNLDALT 

       250        260        270        280        290        300 
QHLDKILAFP QRQESYLGPT LFLLGGNSQF VHPSHHPEIM RLFPRAQMQT VPNAGHWIHA 

       310 
DRPQDFIAAI RGFLV 

« Hide

Isoform 2 (B) [UniParc].

Checksum: 76C9F062C99779CB
Show »

FASTA10110,639
Isoform 3 (C) [UniParc].

Checksum: 9B5EA9CB02195B7C
Show »

FASTA9710,362
Isoform 4 (D) [UniParc].

Checksum: 9F0658259A86D22B
Show »

FASTA30833,863
Isoform 5 (E) [UniParc].

Checksum: 0593926C8FA8D294
Show »

FASTA14515,640
Isoform 6 [UniParc].

Checksum: 4A86D8509A583128
Show »

FASTA25828,473

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS47607.1. [Q8NFV4-6]
CCDS47608.1. [Q8NFV4-4]
CCDS5558.1. [Q8NFV4-1]
RefSeqNP_001138836.1. NM_001145364.1. [Q8NFV4-6]
NP_683710.1. NM_148912.2. [Q8NFV4-1]
NP_683711.1. NM_148913.2. [Q8NFV4-4]
UniGeneHs.647045.

3D structure databases

ProteinModelPortalQ8NFV4.
SMRQ8NFV4. Positions 69-314.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123653. 2 interactions.
STRING9606.ENSP00000222800.

Chemistry

ChEMBLCHEMBL2189134.

Protein family/group databases

MEROPSS33.976.

PTM databases

PhosphoSiteQ8NFV4.

Polymorphism databases

DMDM74751292.

Proteomic databases

MaxQBQ8NFV4.
PaxDbQ8NFV4.
PRIDEQ8NFV4.

Protocols and materials databases

DNASU83451.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000222800; 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]
GeneID83451.
KEGGhsa:83451.
UCSCuc003tza.3. human. [Q8NFV4-1]
uc003tzc.3. human. [Q8NFV4-4]
uc003tzf.3. human. [Q8NFV4-3]

Organism-specific databases

CTD83451.
GeneCardsGC07M073150.
HGNCHGNC:16407. ABHD11.
HPAHPA024042.
HPA049641.
neXtProtNX_Q8NFV4.
PharmGKBPA38134.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0596.
HOVERGENHBG080815.
InParanoidQ8NFV4.
KOK13703.
OMASHHAEIR.
PhylomeDBQ8NFV4.
TreeFamTF314071.

Gene expression databases

ArrayExpressQ8NFV4.
BgeeQ8NFV4.
CleanExHS_ABHD11.
GenevestigatorQ8NFV4.

Family and domain databases

Gene3D3.40.50.1820. 1 hit.
InterProIPR029058. AB_hydrolase.
IPR000073. AB_hydrolase_1.
[Graphical view]
PRINTSPR00111. ABHYDROLASE.
SUPFAMSSF53474. SSF53474. 1 hit.
ProtoNetSearch...

Other

ChiTaRSABHD11. human.
GeneWikiABHD11.
GenomeRNAi83451.
NextBio72370.
PROQ8NFV4.

Entry information

Entry nameABHDB_HUMAN
AccessionPrimary (citable) accession number: Q8NFV4
Secondary accession number(s): H7BYM8 expand/collapse secondary AC list , Q6PJU0, Q8N722, Q8N723, Q8NFV2, Q8NFV3, Q9HBS8
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 99 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM