ID ABHD1_HUMAN Reviewed; 405 AA. AC Q96SE0; B3KSF6; E9PDR9; Q05BY3; Q53SZ1; Q8IXQ7; DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot. DT 24-JAN-2024, sequence version 3. DT 27-MAR-2024, entry version 145. DE RecName: Full=Protein ABHD1 {ECO:0000305}; DE EC=3.1.1.-; DE AltName: Full=Alpha/beta hydrolase domain-containing protein 1 {ECO:0000305}; DE Short=Abhydrolase domain-containing protein 1 {ECO:0000312|HGNC:HGNC:17553}; DE AltName: Full=Lung alpha/beta hydrolase 1; GN Name=ABHD1 {ECO:0000312|HGNC:HGNC:17553}; Synonyms=LABH1; 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] (ISOFORM 1), AND TISSUE SPECIFICITY. RC TISSUE=Lung; RX PubMed=12735795; DOI=10.1186/1471-2164-4-18; RA Edgar A.J.; RT "The gene structure and expression of human ABHD1: overlapping RT polyadenylation signal sequence with Sec12."; RL BMC Genomics 4:18-18(2003). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Testis; 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], AND VARIANT ASP-137. RX PubMed=15815621; DOI=10.1038/nature03466; RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., RA Wilson R.K.; RT "Generation and annotation of the DNA sequences of human chromosomes 2 and RT 4."; RL Nature 434:724-731(2005). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Brain; 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). CC -!- INTERACTION: CC Q96SE0; Q8N6L0: KASH5; NbExp=3; IntAct=EBI-10293349, EBI-749265; CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II CC membrane protein {ECO:0000305}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q96SE0-1; Sequence=Displayed; CC Name=2; CC IsoId=Q96SE0-3; Sequence=VSP_054269, VSP_054270; CC -!- TISSUE SPECIFICITY: Ubiquitously expressed. CC {ECO:0000269|PubMed:12735795}. CC -!- SIMILARITY: Belongs to the AB hydrolase superfamily. AB hydrolase 4 CC family. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AY033290; AAK44222.1; -; mRNA. DR EMBL; AK093447; BAG52718.1; -; mRNA. DR EMBL; AC013403; AAX93169.1; -; Genomic_DNA. DR EMBL; CH471053; EAX00633.1; -; Genomic_DNA. DR EMBL; BC039576; AAH39576.2; -; mRNA. DR CCDS; CCDS1736.1; -. [Q96SE0-1] DR RefSeq; NP_115993.3; NM_032604.3. [Q96SE0-1] DR RefSeq; XP_011531438.1; XM_011533136.2. [Q96SE0-3] DR AlphaFoldDB; Q96SE0; -. DR BioGRID; 124211; 1. DR IntAct; Q96SE0; 1. DR STRING; 9606.ENSP00000326491; -. DR ESTHER; human-ABHD1; abh_upf0017. DR GlyCosmos; Q96SE0; 1 site, No reported glycans. DR GlyGen; Q96SE0; 1 site. DR iPTMnet; Q96SE0; -. DR PhosphoSitePlus; Q96SE0; -. DR BioMuta; ABHD1; -. DR DMDM; 308153404; -. DR jPOST; Q96SE0; -. DR MassIVE; Q96SE0; -. DR PaxDb; 9606-ENSP00000326491; -. DR PeptideAtlas; Q96SE0; -. DR Antibodypedia; 28175; 144 antibodies from 27 providers. DR DNASU; 84696; -. DR Ensembl; ENST00000316470.9; ENSP00000326491.4; ENSG00000143994.14. [Q96SE0-1] DR Ensembl; ENST00000448950.5; ENSP00000410756.1; ENSG00000143994.14. [Q96SE0-3] DR Ensembl; ENST00000621324.4; ENSP00000481238.1; ENSG00000143994.14. [Q96SE0-3] DR GeneID; 84696; -. DR KEGG; hsa:84696; -. DR MANE-Select; ENST00000316470.9; ENSP00000326491.4; NM_032604.4; NP_115993.3. DR UCSC; uc002rit.4; human. [Q96SE0-1] DR AGR; HGNC:17553; -. DR CTD; 84696; -. DR DisGeNET; 84696; -. DR GeneCards; ABHD1; -. DR HGNC; HGNC:17553; ABHD1. DR HPA; ENSG00000143994; Tissue enriched (testis). DR MIM; 612195; gene. DR neXtProt; NX_Q96SE0; -. DR OpenTargets; ENSG00000143994; -. DR PharmGKB; PA38459; -. DR VEuPathDB; HostDB:ENSG00000143994; -. DR eggNOG; KOG1838; Eukaryota. DR GeneTree; ENSGT00950000182902; -. DR HOGENOM; CLU_912033_0_0_1; -. DR InParanoid; Q96SE0; -. DR OrthoDB; 3665677at2759; -. DR PhylomeDB; Q96SE0; -. DR TreeFam; TF313195; -. DR PathwayCommons; Q96SE0; -. DR SignaLink; Q96SE0; -. DR BioGRID-ORCS; 84696; 14 hits in 1143 CRISPR screens. DR ChiTaRS; ABHD1; human. DR GenomeRNAi; 84696; -. DR Pharos; Q96SE0; Tdark. DR PRO; PR:Q96SE0; -. DR Proteomes; UP000005640; Chromosome 2. DR RNAct; Q96SE0; Protein. DR Bgee; ENSG00000143994; Expressed in left testis and 102 other cell types or tissues. DR ExpressionAtlas; Q96SE0; baseline and differential. DR GO; GO:0016020; C:membrane; NAS:UniProtKB. DR GO; GO:0008126; F:acetylesterase activity; IBA:GO_Central. DR GO; GO:0047372; F:acylglycerol lipase activity; IBA:GO_Central. DR GO; GO:0051792; P:medium-chain fatty acid biosynthetic process; IBA:GO_Central. DR GO; GO:0051793; P:medium-chain fatty acid catabolic process; IBA:GO_Central. DR Gene3D; 3.40.50.1820; alpha/beta hydrolase; 1. DR InterPro; IPR029058; AB_hydrolase. DR InterPro; IPR000073; AB_hydrolase_1. DR InterPro; IPR000952; AB_hydrolase_4_CS. DR InterPro; IPR012020; ABHD4. DR PANTHER; PTHR10794; ABHYDROLASE DOMAIN-CONTAINING PROTEIN; 1. DR PANTHER; PTHR10794:SF60; PROTEIN ABHD1; 1. DR Pfam; PF00561; Abhydrolase_1; 1. DR PIRSF; PIRSF005211; Ab_hydro_YheT; 1. DR SUPFAM; SSF53474; alpha/beta-Hydrolases; 1. DR PROSITE; PS01133; UPF0017; 1. DR Genevisible; Q96SE0; HS. PE 1: Evidence at protein level; KW Alternative splicing; Glycoprotein; Hydrolase; Membrane; KW Reference proteome; Serine esterase; Signal-anchor; Transmembrane; KW Transmembrane helix. FT CHAIN 1..405 FT /note="Protein ABHD1" FT /id="PRO_0000280204" FT TRANSMEM 17..37 FT /note="Helical; Signal-anchor for type II membrane protein" FT /evidence="ECO:0000255" FT DOMAIN 123..364 FT /note="AB hydrolase-1" FT /evidence="ECO:0000255" FT ACT_SITE 203 FT /note="Charge relay system" FT /evidence="ECO:0000250" FT ACT_SITE 329 FT /note="Charge relay system" FT /evidence="ECO:0000250" FT ACT_SITE 358 FT /note="Charge relay system" FT /evidence="ECO:0000250" FT CARBOHYD 10 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT VAR_SEQ 265..305 FT /note="NRKVIEKVVDIDFVLQARTIRQFDERYTSVAFGYQDCVTYY -> LSYGKTC FT RPVQSASLMSATHLWPLDIKTVLPTTKQQALEPR (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_054269" FT VAR_SEQ 306..405 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_054270" FT VARIANT 54 FT /note="P -> Q (in dbSNP:rs34127901)" FT /id="VAR_052484" FT VARIANT 137 FT /note="E -> D (in dbSNP:rs6715286)" FT /evidence="ECO:0000269|PubMed:15815621" FT /id="VAR_031087" FT VARIANT 371 FT /note="W -> C (in dbSNP:rs2304678)" FT /id="VAR_031088" SQ SEQUENCE 405 AA; 45221 MW; 1DC0BFB8FB2CD411 CRC64; MLSSFLSPQN GTWADTFSLL LALAVALYLG YYWACVLQRP RLVAGPQFLA FLEPHCSITT ETFYPTLWCF EGRLQSIFQV LLQSQPLVLY QSDILQTPDG GQLLLDWAKQ PDSSQDPDPT TQPIVLLLPG ITGSSQETYV LHLVNQALRD GYQAVVFNNR GCRGEELRTH RAFCASNTED LETVVNHIKH RYPQAPLLAV GISFGGILVL NHLAQARQAA GLVAALTLSA CWDSFETTRS LETPLNSLLF NQPLTAGLCQ LVERNRKVIE KVVDIDFVLQ ARTIRQFDER YTSVAFGYQD CVTYYKAASP RTKIDAIRIP VLYLSAADDP FSPVCALPIQ AAQHSPYVAL LITARGGHIG FLEGLLPWQH WYMSRLLHQY AKAIFQDPEG LPDLRALLPS EDRNS //