ABHEA_HUMAN
ID ABHEA_HUMAN Reviewed; 271 AA.
AC Q9BUJ0; Q6UXU8; Q9Y3T7;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 03-APR-2007, sequence version 2.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Protein ABHD14A {ECO:0000305};
DE EC=3.-.-.-;
DE AltName: Full=Alpha/beta hydrolase domain-containing protein 14A {ECO:0000305};
DE Short=Abhydrolase domain-containing protein 14A {ECO:0000312|HGNC:HGNC:24538};
GN Name=ABHD14A {ECO:0000312|HGNC:HGNC:24538}; ORFNames=UNQ1913/PRO4373;
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 [LARGE SCALE MRNA].
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLN-32.
RC TISSUE=Lymph;
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 -!- FUNCTION: Possible role in granule neuron development. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000305};
CC Single-pass type II membrane protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the AB hydrolase superfamily. ABHD14 family.
CC {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-30 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAQ88568.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AY358201; AAQ88568.1; ALT_INIT; mRNA.
DR EMBL; AL050015; CAB43237.2; -; mRNA.
DR EMBL; BC002571; AAH02571.1; -; mRNA.
DR CCDS; CCDS2843.1; -.
DR PIR; T08702; T08702.
DR RefSeq; NP_056222.2; NM_015407.4.
DR AlphaFoldDB; Q9BUJ0; -.
DR SMR; Q9BUJ0; -.
DR BioGRID; 117383; 72.
DR IntAct; Q9BUJ0; 21.
DR MINT; Q9BUJ0; -.
DR STRING; 9606.ENSP00000273596; -.
DR ESTHER; human-ABHD14A; CIB-CCG1-interacting-factor-B.
DR MEROPS; S33.981; -.
DR GlyGen; Q9BUJ0; 2 sites.
DR iPTMnet; Q9BUJ0; -.
DR PhosphoSitePlus; Q9BUJ0; -.
DR BioMuta; ABHD14A; -.
DR DMDM; 143955271; -.
DR EPD; Q9BUJ0; -.
DR jPOST; Q9BUJ0; -.
DR MassIVE; Q9BUJ0; -.
DR MaxQB; Q9BUJ0; -.
DR PaxDb; Q9BUJ0; -.
DR PeptideAtlas; Q9BUJ0; -.
DR PRIDE; Q9BUJ0; -.
DR ProteomicsDB; 79089; -.
DR Antibodypedia; 51597; 134 antibodies from 23 providers.
DR DNASU; 25864; -.
DR Ensembl; ENST00000273596.8; ENSP00000273596.3; ENSG00000248487.10.
DR GeneID; 25864; -.
DR KEGG; hsa:25864; -.
DR MANE-Select; ENST00000273596.8; ENSP00000273596.3; NM_015407.5; NP_056222.2.
DR UCSC; uc003dco.4; human.
DR CTD; 25864; -.
DR GeneCards; ABHD14A; -.
DR HGNC; HGNC:24538; ABHD14A.
DR HPA; ENSG00000248487; Low tissue specificity.
DR MIM; 618771; gene.
DR neXtProt; NX_Q9BUJ0; -.
DR OpenTargets; ENSG00000248487; -.
DR PharmGKB; PA142672659; -.
DR VEuPathDB; HostDB:ENSG00000248487; -.
DR eggNOG; ENOG502QR0B; Eukaryota.
DR GeneTree; ENSGT00940000161296; -.
DR HOGENOM; CLU_020336_28_2_1; -.
DR InParanoid; Q9BUJ0; -.
DR PhylomeDB; Q9BUJ0; -.
DR TreeFam; TF314465; -.
DR PathwayCommons; Q9BUJ0; -.
DR SignaLink; Q9BUJ0; -.
DR BioGRID-ORCS; 25864; 10 hits in 1068 CRISPR screens.
DR GenomeRNAi; 25864; -.
DR Pharos; Q9BUJ0; Tdark.
DR PRO; PR:Q9BUJ0; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9BUJ0; protein.
DR Bgee; ENSG00000248487; Expressed in right hemisphere of cerebellum and 197 other tissues.
DR ExpressionAtlas; Q9BUJ0; baseline and differential.
DR Genevisible; Q9BUJ0; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016787; F:hydrolase activity; IEA:UniProtKB-KW.
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 SUPFAM; SSF53474; SSF53474; 1.
PE 2: Evidence at transcript level;
KW Cytoplasm; Glycoprotein; Hydrolase; Membrane; Reference proteome;
KW Signal-anchor; Transmembrane; Transmembrane helix.
FT CHAIN 1..271
FT /note="Protein ABHD14A"
FT /id="PRO_0000282285"
FT TRANSMEM 35..55
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT ACT_SITE 171
FT /note="Charge relay system"
FT /evidence="ECO:0000250"
FT ACT_SITE 222
FT /note="Charge relay system"
FT /evidence="ECO:0000250"
FT ACT_SITE 249
FT /note="Charge relay system"
FT /evidence="ECO:0000250"
FT CARBOHYD 67
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 201
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 32
FT /note="R -> Q (in dbSNP:rs17849626)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031390"
FT VARIANT 61
FT /note="C -> W (in dbSNP:rs404527)"
FT /id="VAR_031391"
FT CONFLICT 159
FT /note="D -> N (in Ref. 2; CAB43237)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 271 AA; 29765 MW; B9CAF975D3208F10 CRC64;
MVGALCGCWF RLGGARPLIP LGPTVVQTSM SRSQVALLGL SLLLMLLLYV GLPGPPEQTS
CLWGDPNVTV LAGLTPGNSP IFYREVLPLN QAHRVEVVLL HGKAFNSHTW EQLGTLQLLS
QRGYRAVALD LPGFGNSAPS KEASTEAGRA ALLERALRDL EVQNAVLVSP SLSGHYALPF
LMRGHHQLHG FVPIAPTSTQ NYTQEQFWAV KTPTLILYGE LDHILARESL RQLRHLPNHS
VVKLRNAGHA CYLHKPQDFH LVLLAFLDHL P
