AB12B_HUMAN
ID AB12B_HUMAN Reviewed; 362 AA.
AC Q7Z5M8; Q3KNR9; Q3KNS0; Q7Z5M6; Q7Z5M7; Q8N4D2;
DT 05-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Protein ABHD12B {ECO:0000305};
DE EC=3.-.-.-;
DE AltName: Full=Abhydrolase domain-containing protein 12B {ECO:0000312|HGNC:HGNC:19837};
DE AltName: Full=Alpha/beta hydrolase domain-containing protein 12B {ECO:0000305};
GN Name=ABHD12B {ECO:0000312|HGNC:HGNC:19837}; Synonyms=C14orf29;
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 AND 4).
RA Schulz H.L., Weber B.H.F.;
RT "Cloning and characterization of C14orf29.";
RL Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
RC TISSUE=Kidney;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 84-362 (ISOFORM 1), AND VARIANT LEU-334.
RC TISSUE=Skin;
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 [5]
RP VARIANT [LARGE SCALE ANALYSIS] VAL-282.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- INTERACTION:
CC Q7Z5M8-2; P13473-2: LAMP2; NbExp=3; IntAct=EBI-21854797, EBI-21591415;
CC Q7Z5M8-2; Q9Y371: SH3GLB1; NbExp=3; IntAct=EBI-21854797, EBI-2623095;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=Variant 1;
CC IsoId=Q7Z5M8-1; Sequence=Displayed;
CC Name=2; Synonyms=Variant 3;
CC IsoId=Q7Z5M8-2; Sequence=VSP_010687;
CC Name=4; Synonyms=Variant 4;
CC IsoId=Q7Z5M8-4; Sequence=VSP_041149, VSP_041150;
CC Name=5;
CC IsoId=Q7Z5M8-5; Sequence=VSP_010687, VSP_010688, VSP_010689;
CC -!- MISCELLANEOUS: [Isoform 4]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the serine esterase family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH34603.3; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAP78477.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=AAP78479.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
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DR EMBL; AY311396; AAP78476.1; -; mRNA.
DR EMBL; AY311397; AAP78477.1; ALT_SEQ; mRNA.
DR EMBL; AY311398; AAP78478.1; -; mRNA.
DR EMBL; AY311399; AAP78479.1; ALT_SEQ; mRNA.
DR EMBL; AK128464; BAC87452.1; -; mRNA.
DR EMBL; AL358334; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC034603; AAH34603.3; ALT_INIT; mRNA.
DR EMBL; BC107141; AAI07142.1; -; mRNA.
DR EMBL; BC107142; AAI07143.1; -; mRNA.
DR CCDS; CCDS55916.1; -. [Q7Z5M8-1]
DR CCDS; CCDS9702.1; -. [Q7Z5M8-2]
DR RefSeq; NP_001193602.1; NM_001206673.1. [Q7Z5M8-1]
DR RefSeq; NP_853511.2; NM_181533.3.
DR RefSeq; NP_861535.1; NM_181814.1. [Q7Z5M8-2]
DR AlphaFoldDB; Q7Z5M8; -.
DR SMR; Q7Z5M8; -.
DR BioGRID; 126913; 4.
DR IntAct; Q7Z5M8; 4.
DR STRING; 9606.ENSP00000336693; -.
DR ESTHER; human-ABHD12B; ABHD12-PHARC.
DR MEROPS; S09.061; -.
DR GlyGen; Q7Z5M8; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q7Z5M8; -.
DR PhosphoSitePlus; Q7Z5M8; -.
DR BioMuta; ABHD12B; -.
DR DMDM; 50401854; -.
DR MassIVE; Q7Z5M8; -.
DR PaxDb; Q7Z5M8; -.
DR PeptideAtlas; Q7Z5M8; -.
DR PRIDE; Q7Z5M8; -.
DR ProteomicsDB; 69331; -. [Q7Z5M8-1]
DR ProteomicsDB; 69332; -. [Q7Z5M8-2]
DR Antibodypedia; 130; 90 antibodies from 26 providers.
DR DNASU; 145447; -.
DR Ensembl; ENST00000337334.7; ENSP00000336693.2; ENSG00000131969.15. [Q7Z5M8-1]
DR Ensembl; ENST00000353130.5; ENSP00000343951.1; ENSG00000131969.15. [Q7Z5M8-2]
DR Ensembl; ENST00000382029.7; ENSP00000371460.3; ENSG00000131969.15. [Q7Z5M8-4]
DR Ensembl; ENST00000557345.5; ENSP00000450643.1; ENSG00000131969.15. [Q7Z5M8-4]
DR GeneID; 145447; -.
DR KEGG; hsa:145447; -.
DR MANE-Select; ENST00000337334.7; ENSP00000336693.2; NM_001206673.2; NP_001193602.1.
DR UCSC; uc001wyq.4; human. [Q7Z5M8-1]
DR CTD; 145447; -.
DR DisGeNET; 145447; -.
DR GeneCards; ABHD12B; -.
DR HGNC; HGNC:19837; ABHD12B.
DR HPA; ENSG00000131969; Group enriched (brain, retina, skin).
DR neXtProt; NX_Q7Z5M8; -.
DR OpenTargets; ENSG00000131969; -.
DR PharmGKB; PA162375213; -.
DR VEuPathDB; HostDB:ENSG00000131969; -.
DR eggNOG; KOG1552; Eukaryota.
DR GeneTree; ENSGT00940000161597; -.
DR HOGENOM; CLU_029375_1_1_1; -.
DR InParanoid; Q7Z5M8; -.
DR OMA; PLMNMLI; -.
DR OrthoDB; 691954at2759; -.
DR PhylomeDB; Q7Z5M8; -.
DR TreeFam; TF315122; -.
DR PathwayCommons; Q7Z5M8; -.
DR SignaLink; Q7Z5M8; -.
DR BioGRID-ORCS; 145447; 7 hits in 1065 CRISPR screens.
DR ChiTaRS; ABHD12B; human.
DR GenomeRNAi; 145447; -.
DR Pharos; Q7Z5M8; Tdark.
DR PRO; PR:Q7Z5M8; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q7Z5M8; protein.
DR Bgee; ENSG00000131969; Expressed in upper arm skin and 116 other tissues.
DR Genevisible; Q7Z5M8; HS.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0047372; F:acylglycerol lipase activity; IBA:GO_Central.
DR GO; GO:0004622; F:lysophospholipase activity; IBA:GO_Central.
DR GO; GO:0008474; F:palmitoyl-(protein) hydrolase activity; IBA:GO_Central.
DR GO; GO:0052651; P:monoacylglycerol catabolic process; IBA:GO_Central.
DR GO; GO:0006660; P:phosphatidylserine catabolic process; IBA:GO_Central.
DR Gene3D; 3.40.50.1820; -; 1.
DR InterPro; IPR029058; AB_hydrolase.
DR InterPro; IPR022742; Hydrolase_4.
DR Pfam; PF12146; Hydrolase_4; 1.
DR SUPFAM; SSF53474; SSF53474; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Hydrolase; Reference proteome.
FT CHAIN 1..362
FT /note="Protein ABHD12B"
FT /id="PRO_0000089887"
FT VAR_SEQ 36..112
FT /note="Missing (in isoform 2 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_010687"
FT VAR_SEQ 36..60
FT /note="YFPHSCSMLGRKIAALYDSFTSKSL -> QSPISCGFKETRVKDSSHSELLP
FT ES (in isoform 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_041149"
FT VAR_SEQ 61..362
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_041150"
FT VAR_SEQ 261..312
FT /note="IYRNIPGFLRTLMDALRKDKIIFPNDENVKFLSSPLLILHGEDDRTVPLEYG
FT -> SLALSSRLECSGVISAHCKLRFPGSRHSPASASRVAGTTGARHHAWLIFLCF (in
FT isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_010688"
FT VAR_SEQ 313..362
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_010689"
FT VARIANT 282
FT /note="I -> V (in a breast cancer sample; somatic mutation;
FT dbSNP:rs28564871)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035676"
FT VARIANT 334
FT /note="F -> L (in dbSNP:rs7154732)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_019100"
SQ SEQUENCE 362 AA; 40776 MW; D6BD2858CE7C04AA CRC64;
MDAQDCQAAA SPEPPGPPAR SCVAAWWDMV DRNLRYFPHS CSMLGRKIAA LYDSFTSKSL
KEHVFLPLID MLIYFNFFKA PFLVDLKKPE LKIPHTVNFY LRVEPGVMLG IWHTVPSCRG
EDAKGKDCCW YEAALRDGNP IIVYLHGSAE HRAASHRLKL VKVLSDGGFH VLSVDYRGFG
DSTGKPTEEG LTTDAICVYE WTKARSGITP VCLWGHSLGT GVATNAAKVL EEKGCPVDAI
VLEAPFTNMW VASINYPLLK IYRNIPGFLR TLMDALRKDK IIFPNDENVK FLSSPLLILH
GEDDRTVPLE YGKKLYEIAR NAYRNKERVK MVIFPPGFQH NLLCKSPTLL ITVRDFLSKQ
WS
