Q8NFV4 (ABHDB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	315 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing
Disease	Williams-Beuren syndrome
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	mitochondrion Inferred from electronic annotation. Source: Compara
Molecular_function	hydrolase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 5 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 315	315	Alpha/beta hydrolase domain-containing protein 11		PRO_0000281003
Sites
	Active site	141	1	Charge relay system By similarity
	Active site	237	1	Charge relay system By similarity
	Active site	296	1	Charge relay system By similarity
Natural variations
	Alternative sequence	51 – 57	7	Missing in isoform 4 and isoform 5.		VSP_023924
	Alternative sequence	96 – 101	6	RVLTVD → ADGGCS in isoform 2.		VSP_023925
	Alternative sequence	97	1	V → G in isoform 3.		VSP_023926
	Alternative sequence	98 – 315	218	Missing in isoform 3.		VSP_023927
	Alternative sequence	102 – 315	214	Missing in isoform 2.		VSP_023928
	Alternative sequence	125 – 152	28	DLLPQ…MLLAL → PAPHLGTEGLRQALCGHEVL QGWSDLRL in isoform 5.		VSP_023929
	Alternative sequence	153 – 315	163	Missing in isoform 5.		VSP_023930

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (A) [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 108A2A9ED4FCA866	FASTA	315	34,690
	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
	Isoform 2 (B) [UniParc]. Checksum: 76C9F062C99779CB	FASTA	101	10,639
	10 20 30 40 50 60 MRAGQQLASM LRWTRAWRLP REGLGPHGPS FARVPVAPSS SSGGRGGAEP RPLPLSYRLL 70 80 90 100 DGEAALPAVV FLHGLFGSKT NFNSIAKILA QQTGRADGGC S
	Isoform 3 (C) [UniParc]. Checksum: 9B5EA9CB02195B7C	FASTA	97	10,362
	10 20 30 40 50 60 MRAGQQLASM LRWTRAWRLP REGLGPHGPS FARVPVAPSS SSGGRGGAEP RPLPLSYRLL 70 80 90 DGEAALPAVV FLHGLFGSKT NFNSIAKILA QQTGRRG
	Isoform 4 (D) [UniParc]. Checksum: 9F0658259A86D22B	FASTA	308	33,863
	10 20 30 40 50 60 MRAGQQLASM LRWTRAWRLP REGLGPHGPS FARVPVAPSS SSGGRGGAEP RLLDGEAALP 70 80 90 100 110 120 AVVFLHGLFG SKTNFNSIAK ILAQQTGRRV LTVDARNHGD SPHSPDMSYE IMSQDLQDLL 130 140 150 160 170 180 PQLGLVPCVV VGHSMGGKTA MLLALQRPEL VERLIAVDIS PVESTGVSHF ATYVAAMRAI 190 200 210 220 230 240 NIADELPRSR ARKLADEQLS SVIQDMAVRQ HLLTNLVEVD GRFVWRVNLD ALTQHLDKIL 250 260 270 280 290 300 AFPQRQESYL GPTLFLLGGN SQFVHPSHHP EIMRLFPRAQ MQTVPNAGHW IHADRPQDFI AAIRGFLV
	Isoform 5 (E) [UniParc]. Checksum: 0593926C8FA8D294	FASTA	145	15,640
	10 20 30 40 50 60 MRAGQQLASM LRWTRAWRLP REGLGPHGPS FARVPVAPSS SSGGRGGAEP RLLDGEAALP 70 80 90 100 110 120 AVVFLHGLFG SKTNFNSIAK ILAQQTGRRV LTVDARNHGD SPHSPDMSYE IMSQDLQPAP 130 140 HLGTEGLRQA LCGHEVLQGW SDLRL

References

	« Hide 'large scale' referencesShow '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. , 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).
+	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.
IPI	IPI00167072. IPI00171152. IPI00171692. IPI00922400. IPI01015596.
RefSeq	NP_001138836.1. NM_001145364.1. NP_683710.1. NM_148912.2. NP_683711.1. NM_148913.2.
UniGene	Hs.647045.
3D structure databases
ProteinModelPortal	Q8NFV4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000222800.
Protein family/group databases
MEROPS	S33.976.
PTM databases
PhosphoSite	Q8NFV4.
Polymorphism databases
DMDM	74751292.
Proteomic databases
PaxDb	Q8NFV4.
PRIDE	Q8NFV4.
Protocols and materials databases
DNASU	83451.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000222800; ENSP00000222800; ENSG00000106077. ENST00000357419; ENSP00000392945; ENSG00000106077. ENST00000437775; ENSP00000416970; ENSG00000106077. ENST00000571672; ENSP00000461270; ENSG00000262947. ENST00000575418; ENSP00000461523; ENSG00000262947. ENST00000577109; ENSP00000461104; ENSG00000262947.
GeneID	83451.
KEGG	hsa:83451.
UCSC	uc003tza.3. human. uc003tzc.3. human. uc003tzf.3. human.
Organism-specific databases
CTD	83451.
GeneCards	GC07M073150.
HGNC	HGNC:16407. ABHD11.
HPA	HPA024042.
neXtProt	NX_Q8NFV4.
PharmGKB	PA38134.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0596.
HOVERGEN	HBG080815.
InParanoid	Q8NFV4.
KO	K13703.
OMA	YKLLDGE.
OrthoDB	EOG4GXFNB.
PhylomeDB	Q8NFV4.
Gene expression databases
ArrayExpress	Q8NFV4.
Bgee	Q8NFV4.
CleanEx	HS_ABHD11.
Genevestigator	Q8NFV4.
Family and domain databases
InterPro	IPR000073. AB_hydrolase_1. [Graphical view]
PRINTS	PR00111. ABHYDROLASE.
ProtoNet	Search...
Other
ChiTaRS	ABHD11. human.
GenomeRNAi	83451.
NextBio	72370.

Entry information

Entry name

ABHDB_HUMAN

Accession

Primary (citable) accession number: Q8NFV4
Secondary accession number(s): Q6PJU0 , Q8N722, Q8N723, Q8NFV2, Q8NFV3, Q9HBS8

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 20, 2007
Last sequence update:	October 1, 2002
Last modified:	May 1, 2013
This is version 86 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.