ABHD1_HUMAN
ID ABHD1_HUMAN Reviewed; 405 AA.
AC Q96SE0; B3KSF6; E9PDR9; Q05BY3; Q53SZ1; Q8IXQ7;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2010, sequence version 2.
DT 03-AUG-2022, entry version 136.
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), TISSUE SPECIFICITY, AND VARIANT
RP GLU-137.
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), AND VARIANT GLU-137.
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].
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), AND VARIANT GLU-137.
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}.
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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.
DR RefSeq; XP_011531438.1; XM_011533136.2.
DR AlphaFoldDB; Q96SE0; -.
DR BioGRID; 124211; 1.
DR IntAct; Q96SE0; 1.
DR STRING; 9606.ENSP00000326491; -.
DR ESTHER; human-ABHD1; abh_upf0017.
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; Q96SE0; -.
DR PeptideAtlas; Q96SE0; -.
DR PRIDE; Q96SE0; -.
DR Antibodypedia; 28175; 136 antibodies from 27 providers.
DR DNASU; 84696; -.
DR Ensembl; ENST00000316470.9; ENSP00000326491.4; ENSG00000143994.14.
DR Ensembl; ENST00000448950.5; ENSP00000410756.1; ENSG00000143994.14.
DR Ensembl; ENST00000621324.4; ENSP00000481238.1; ENSG00000143994.14.
DR GeneID; 84696; -.
DR KEGG; hsa:84696; -.
DR UCSC; uc002rit.4; human. [Q96SE0-1]
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 PharmGKB; PA38459; -.
DR VEuPathDB; HostDB:ENSG00000143994; -.
DR eggNOG; KOG1838; Eukaryota.
DR HOGENOM; CLU_912033_0_0_1; -.
DR InParanoid; Q96SE0; -.
DR OrthoDB; 1162019at2759; -.
DR PhylomeDB; Q96SE0; -.
DR TreeFam; TF313195; -.
DR PathwayCommons; Q96SE0; -.
DR SignaLink; Q96SE0; -.
DR BioGRID-ORCS; 84696; 13 hits in 1066 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 100 other tissues.
DR ExpressionAtlas; Q96SE0; baseline and differential.
DR Genevisible; Q96SE0; HS.
DR GO; GO:0016021; C:integral component of 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:0034338; F:short-chain carboxylesterase activity; IBA:GO_Central.
DR GO; GO:0044255; P:cellular lipid metabolic process; 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; -; 1.
DR InterPro; IPR029058; AB_hydrolase.
DR InterPro; IPR000073; AB_hydrolase_1.
DR InterPro; IPR000952; AB_hydrolase_4_CS.
DR InterPro; IPR012020; ABHD4.
DR Pfam; PF00561; Abhydrolase_1; 1.
DR PIRSF; PIRSF005211; Ab_hydro_YheT; 1.
DR SUPFAM; SSF53474; SSF53474; 1.
DR PROSITE; PS01133; UPF0017; 1.
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="D -> E (in dbSNP:rs6715286)"
FT /evidence="ECO:0000269|PubMed:12735795,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334"
FT /id="VAR_031087"
FT VARIANT 371
FT /note="W -> C (in dbSNP:rs2304678)"
FT /id="VAR_031088"
SQ SEQUENCE 405 AA; 45207 MW; 1D0BDEB8FB79C511 CRC64;
MLSSFLSPQN GTWADTFSLL LALAVALYLG YYWACVLQRP RLVAGPQFLA FLEPHCSITT
ETFYPTLWCF EGRLQSIFQV LLQSQPLVLY QSDILQTPDG GQLLLDWAKQ PDSSQDPDPT
TQPIVLLLPG ITGSSQDTYV 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
