ABHDB_HUMAN
ID ABHDB_HUMAN Reviewed; 315 AA.
AC Q8NFV4; H7BYM8; Q6PJU0; Q8N722; Q8N723; Q8NFV2; Q8NFV3; Q9HBS8;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Protein ABHD11 {ECO:0000305};
DE EC=3.-.-.-;
DE AltName: Full=Alpha/beta hydrolase domain-containing protein 11 {ECO:0000305};
DE Short=Abhydrolase domain-containing protein 11 {ECO:0000312|HGNC:HGNC:16407};
DE AltName: Full=Williams-Beuren syndrome chromosomal region 21 protein;
GN Name=ABHD11 {ECO:0000312|HGNC:HGNC:16407}; Synonyms=WBSCR21;
GN ORFNames=PP1226;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), AND TISSUE
RP SPECIFICITY.
RX PubMed=12073013; DOI=10.1007/s00439-002-0710-x;
RA Merla G., Ucla C., Guipponi M., Reymond A.;
RT "Identification of additional transcripts in the Williams-Beuren syndrome
RT critical region.";
RL Hum. Genet. 110:429-438(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Eye, Lung, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-315 (ISOFORM 2).
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- INTERACTION:
CC Q8NFV4-4; X5D778: ANKRD11; NbExp=3; IntAct=EBI-12318443, EBI-17183751;
CC Q8NFV4-4; P33240: CSTF2; NbExp=3; IntAct=EBI-12318443, EBI-711360;
CC Q8NFV4-4; Q6PKX4: DOK6; NbExp=3; IntAct=EBI-12318443, EBI-2880244;
CC Q8NFV4-4; Q86UW9: DTX2; NbExp=3; IntAct=EBI-12318443, EBI-740376;
CC Q8NFV4-4; Q53EP0-3: FNDC3B; NbExp=3; IntAct=EBI-12318443, EBI-10242151;
CC Q8NFV4-4; P28676: GCA; NbExp=3; IntAct=EBI-12318443, EBI-947242;
CC Q8NFV4-4; O43593: HR; NbExp=3; IntAct=EBI-12318443, EBI-2880706;
CC Q8NFV4-4; Q99750: MDFI; NbExp=3; IntAct=EBI-12318443, EBI-724076;
CC Q8NFV4-4; Q6PF18: MORN3; NbExp=3; IntAct=EBI-12318443, EBI-9675802;
CC Q8NFV4-4; Q9HBE1-4: PATZ1; NbExp=3; IntAct=EBI-12318443, EBI-11022007;
CC Q8NFV4-4; P78337: PITX1; NbExp=3; IntAct=EBI-12318443, EBI-748265;
CC Q8NFV4-4; O43741: PRKAB2; NbExp=3; IntAct=EBI-12318443, EBI-1053424;
CC Q8NFV4-4; O75360: PROP1; NbExp=3; IntAct=EBI-12318443, EBI-9027467;
CC Q8NFV4-4; P0CG20: PRR35; NbExp=3; IntAct=EBI-12318443, EBI-11986293;
CC Q8NFV4-4; Q9BVN2: RUSC1; NbExp=3; IntAct=EBI-12318443, EBI-6257312;
CC Q8NFV4-4; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-12318443, EBI-739895;
CC Q8NFV4-4; Q08AM6: VAC14; NbExp=3; IntAct=EBI-12318443, EBI-2107455;
CC Q8NFV4-4; O95231: VENTX; NbExp=3; IntAct=EBI-12318443, EBI-10191303;
CC Q8NFV4-4; A5D8V6: VPS37C; NbExp=3; IntAct=EBI-12318443, EBI-2559305;
CC Q8NFV4-4; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-12318443, EBI-12040603;
CC Q8NFV4-4; Q9BYJ9: YTHDF1; NbExp=3; IntAct=EBI-12318443, EBI-1051237;
CC Q8NFV4-4; Q15915: ZIC1; NbExp=3; IntAct=EBI-12318443, EBI-11963196;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1; Synonyms=A;
CC IsoId=Q8NFV4-1; Sequence=Displayed;
CC Name=2; Synonyms=B;
CC IsoId=Q8NFV4-2; Sequence=VSP_023925, VSP_023928;
CC Name=3; Synonyms=C;
CC IsoId=Q8NFV4-3; Sequence=VSP_023926, VSP_023927;
CC Name=4; Synonyms=D;
CC IsoId=Q8NFV4-4; Sequence=VSP_023924;
CC Name=5; Synonyms=E;
CC IsoId=Q8NFV4-5; Sequence=VSP_023924, VSP_023929, VSP_023930;
CC Name=6;
CC IsoId=Q8NFV4-6; Sequence=VSP_046994;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC {ECO:0000269|PubMed:12073013}.
CC -!- DISEASE: Note=ABHD11 is located in the Williams-Beuren syndrome (WBS)
CC critical region. WBS results from a hemizygous deletion of several
CC genes on chromosome 7q11.23, thought to arise as a consequence of
CC unequal crossing over between highly homologous low-copy repeat
CC sequences flanking the deleted region.
CC -!- SIMILARITY: Belongs to the AB hydrolase superfamily. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-10 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG17214.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
CC Sequence=AAS07472.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AF412030; AAM62312.1; -; mRNA.
DR EMBL; AF412031; AAM62313.1; -; mRNA.
DR EMBL; AF412032; AAM62314.1; -; mRNA.
DR EMBL; AY053499; AAL14848.1; -; mRNA.
DR EMBL; AY053500; AAL14849.1; -; mRNA.
DR EMBL; AC073846; AAS07472.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC008251; AAH08251.2; -; mRNA.
DR EMBL; BC011712; AAH11712.1; -; mRNA.
DR EMBL; BC067750; AAH67750.1; -; mRNA.
DR EMBL; AF217971; AAG17214.1; ALT_SEQ; mRNA.
DR RefSeq; NP_001138836.1; NM_001145364.2. [Q8NFV4-6]
DR RefSeq; NP_001287987.1; NM_001301058.1.
DR RefSeq; NP_001308311.1; NM_001321382.1.
DR RefSeq; NP_683710.1; NM_148912.3. [Q8NFV4-1]
DR RefSeq; NP_683711.1; NM_148913.3. [Q8NFV4-4]
DR AlphaFoldDB; Q8NFV4; -.
DR SMR; Q8NFV4; -.
DR BioGRID; 123653; 88.
DR IntAct; Q8NFV4; 45.
DR MINT; Q8NFV4; -.
DR STRING; 9606.ENSP00000222800; -.
DR BindingDB; Q8NFV4; -.
DR ChEMBL; CHEMBL2189134; -.
DR ESTHER; human-ABHD11; ABHD11-Acetyl_transferase.
DR MEROPS; S33.976; -.
DR GlyGen; Q8NFV4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8NFV4; -.
DR PhosphoSitePlus; Q8NFV4; -.
DR BioMuta; ABHD11; -.
DR DMDM; 74751292; -.
DR EPD; Q8NFV4; -.
DR jPOST; Q8NFV4; -.
DR MassIVE; Q8NFV4; -.
DR MaxQB; Q8NFV4; -.
DR PaxDb; Q8NFV4; -.
DR PeptideAtlas; Q8NFV4; -.
DR PRIDE; Q8NFV4; -.
DR ProteomicsDB; 43672; -.
DR ProteomicsDB; 73364; -. [Q8NFV4-1]
DR ProteomicsDB; 73365; -. [Q8NFV4-2]
DR ProteomicsDB; 73366; -. [Q8NFV4-3]
DR ProteomicsDB; 73367; -. [Q8NFV4-4]
DR ProteomicsDB; 73368; -. [Q8NFV4-5]
DR TopDownProteomics; Q8NFV4-1; -. [Q8NFV4-1]
DR Antibodypedia; 14446; 136 antibodies from 24 providers.
DR DNASU; 83451; -.
DR Ensembl; ENST00000222800.8; ENSP00000222800.4; ENSG00000106077.19.
DR Ensembl; ENST00000357419.9; ENSP00000392945.3; ENSG00000106077.19.
DR Ensembl; ENST00000395147.9; ENSP00000378579.5; ENSG00000106077.19.
DR Ensembl; ENST00000437775.7; ENSP00000416970.3; ENSG00000106077.19.
DR GeneID; 83451; -.
DR KEGG; hsa:83451; -.
DR UCSC; uc003tzb.4; human. [Q8NFV4-1]
DR CTD; 83451; -.
DR DisGeNET; 83451; -.
DR GeneCards; ABHD11; -.
DR HGNC; HGNC:16407; ABHD11.
DR HPA; ENSG00000106077; Low tissue specificity.
DR neXtProt; NX_Q8NFV4; -.
DR PharmGKB; PA38134; -.
DR VEuPathDB; HostDB:ENSG00000106077; -.
DR eggNOG; KOG2382; Eukaryota.
DR HOGENOM; CLU_020336_53_0_1; -.
DR InParanoid; Q8NFV4; -.
DR OMA; MMYFARK; -.
DR OrthoDB; 1268438at2759; -.
DR PhylomeDB; Q8NFV4; -.
DR TreeFam; TF314071; -.
DR PathwayCommons; Q8NFV4; -.
DR SignaLink; Q8NFV4; -.
DR BioGRID-ORCS; 83451; 236 hits in 1078 CRISPR screens.
DR ChiTaRS; ABHD11; human.
DR GeneWiki; ABHD11; -.
DR GenomeRNAi; 83451; -.
DR Pharos; Q8NFV4; Tbio.
DR PRO; PR:Q8NFV4; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8NFV4; protein.
DR Bgee; ENSG00000106077; Expressed in mucosa of transverse colon and 198 other tissues.
DR ExpressionAtlas; Q8NFV4; baseline and differential.
DR Genevisible; Q8NFV4; HS.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0052689; F:carboxylic ester hydrolase activity; IBA:GO_Central.
DR GO; GO:0044255; P:cellular lipid metabolic process; IBA:GO_Central.
DR Gene3D; 3.40.50.1820; -; 1.
DR InterPro; IPR029058; AB_hydrolase.
DR InterPro; IPR000073; AB_hydrolase_1.
DR Pfam; PF12697; Abhydrolase_6; 1.
DR PRINTS; PR00111; ABHYDROLASE.
DR SUPFAM; SSF53474; SSF53474; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Hydrolase; Reference proteome;
KW Williams-Beuren syndrome.
FT CHAIN 1..315
FT /note="Protein ABHD11"
FT /id="PRO_0000281003"
FT REGION 28..49
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT ACT_SITE 141
FT /note="Charge relay system"
FT /evidence="ECO:0000250"
FT ACT_SITE 237
FT /note="Charge relay system"
FT /evidence="ECO:0000250"
FT ACT_SITE 296
FT /note="Charge relay system"
FT /evidence="ECO:0000250"
FT MOD_RES 87
FT /note="N6-succinyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q8K4F5"
FT VAR_SEQ 51..57
FT /note="Missing (in isoform 4 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:12073013"
FT /id="VSP_023924"
FT VAR_SEQ 96..101
FT /note="RVLTVD -> ADGGCS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12073013,
FT ECO:0000303|PubMed:15498874"
FT /id="VSP_023925"
FT VAR_SEQ 97
FT /note="V -> G (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12073013"
FT /id="VSP_023926"
FT VAR_SEQ 98..315
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12073013"
FT /id="VSP_023927"
FT VAR_SEQ 102..315
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12073013,
FT ECO:0000303|PubMed:15498874"
FT /id="VSP_023928"
FT VAR_SEQ 125..152
FT /note="DLLPQLGLVPCVVVGHSMGGKTAMLLAL -> PAPHLGTEGLRQALCGHEVL
FT QGWSDLRL (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:12073013"
FT /id="VSP_023929"
FT VAR_SEQ 153..315
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:12073013"
FT /id="VSP_023930"
FT VAR_SEQ 155..211
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000305"
FT /id="VSP_046994"
SQ SEQUENCE 315 AA; 34690 MW; 108A2A9ED4FCA866 CRC64;
MRAGQQLASM LRWTRAWRLP REGLGPHGPS FARVPVAPSS SSGGRGGAEP RPLPLSYRLL
DGEAALPAVV FLHGLFGSKT NFNSIAKILA QQTGRRVLTV DARNHGDSPH SPDMSYEIMS
QDLQDLLPQL GLVPCVVVGH SMGGKTAMLL ALQRPELVER LIAVDISPVE STGVSHFATY
VAAMRAINIA DELPRSRARK LADEQLSSVI QDMAVRQHLL TNLVEVDGRF VWRVNLDALT
QHLDKILAFP QRQESYLGPT LFLLGGNSQF VHPSHHPEIM RLFPRAQMQT VPNAGHWIHA
DRPQDFIAAI RGFLV
