TM114_HUMAN
ID TM114_HUMAN Reviewed; 223 AA.
AC B3SHH9;
DT 14-OCT-2008, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2008, sequence version 2.
DT 03-AUG-2022, entry version 94.
DE RecName: Full=Transmembrane protein 114 {ECO:0000312|EMBL:ABN55916.1};
GN Name=TMEM114 {ECO:0000312|EMBL:ABN55916.1};
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] {ECO:0000305, ECO:0000312|EMBL:ABN55916.1}
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-73, VARIANTS THR-35; VAL-147 AND
RP LEU-206, AND CHROMOSOMAL TRANSLOCATION.
RX PubMed=17492639; DOI=10.1002/humu.20545;
RA Jamieson R.V., Farrar N., Stewart K., Perveen R., Mihelec M., Carette M.,
RA Grigg J.R., McAvoy J.W., Lovicu F.J., Tam P.P.L., Scambler P., Lloyd I.C.,
RA Donnai D., Black G.C.M.;
RT "Characterization of a familial t(16;22) balanced translocation associated
RT with congenital cataract leads to identification of a novel gene, TMEM114,
RT expressed in the lens and disrupted by the translocation.";
RL Hum. Mutat. 28:968-977(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 26-223.
RC TISSUE=Lens;
RX PubMed=12107413;
RA Wistow G., Bernstein S.L., Wyatt M.K., Behal A., Touchman J.W.,
RA Bouffard G., Smith D., Peterson K.;
RT "Expressed sequence tag analysis of adult human lens for the NEIBank
RT project: over 2000 non-redundant transcripts, novel genes and splice
RT variants.";
RL Mol. Vis. 8:171-184(2002).
RN [3] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 102-223.
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 DEVELOPMENTAL STAGE.
RX PubMed=21689651; DOI=10.1016/j.febslet.2011.05.060;
RA Maher G.J., Hilton E.N., Urquhart J.E., Davidson A.E., Spencer H.L.,
RA Black G.C., Manson F.D.;
RT "The cataract-associated protein TMEM114, and TMEM235, are glycosylated
RT transmembrane proteins that are distinct from claudin family members.";
RL FEBS Lett. 585:2187-2192(2011).
CC -!- INTERACTION:
CC B3SHH9; P54849: EMP1; NbExp=3; IntAct=EBI-19132172, EBI-4319440;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane
CC protein {ECO:0000255}.
CC -!- DEVELOPMENTAL STAGE: Detected in the eye at gestational days 53-54 and
CC at gestational week 10. {ECO:0000269|PubMed:21689651}.
CC -!- DISEASE: Note=Chromosomal aberrations involving TMEM114 may be a cause
CC of congenital and juvenile cataracts. Translocation t(16;22)
CC (p13.3;q11.2). {ECO:0000269|PubMed:17492639}.
CC -!- SIMILARITY: Belongs to the PMP-22/EMP/MP20 family. {ECO:0000305}.
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DR EMBL; EF424218; ABN55916.1; -; Genomic_DNA.
DR EMBL; BF727259; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC150511; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS73825.1; -.
DR RefSeq; NP_001139808.1; NM_001146336.1.
DR AlphaFoldDB; B3SHH9; -.
DR BioGRID; 129713; 1.
DR IntAct; B3SHH9; 2.
DR STRING; 9606.ENSP00000484263; -.
DR GlyGen; B3SHH9; 2 sites.
DR iPTMnet; B3SHH9; -.
DR PhosphoSitePlus; B3SHH9; -.
DR BioMuta; TMEM114; -.
DR PaxDb; B3SHH9; -.
DR PeptideAtlas; B3SHH9; -.
DR PRIDE; B3SHH9; -.
DR Antibodypedia; 51871; 12 antibodies from 10 providers.
DR DNASU; 283953; -.
DR Ensembl; ENST00000620492.5; ENSP00000484263.1; ENSG00000232258.7.
DR GeneID; 283953; -.
DR KEGG; hsa:283953; -.
DR MANE-Select; ENST00000620492.5; ENSP00000484263.1; NM_001146336.2; NP_001139808.1.
DR UCSC; uc032dql.1; human.
DR CTD; 283953; -.
DR DisGeNET; 283953; -.
DR GeneCards; TMEM114; -.
DR HGNC; HGNC:33227; TMEM114.
DR HPA; ENSG00000232258; Tissue enriched (seminal).
DR MIM; 611579; gene.
DR neXtProt; NX_B3SHH9; -.
DR OpenTargets; ENSG00000232258; -.
DR PharmGKB; PA162405852; -.
DR VEuPathDB; HostDB:ENSG00000232258; -.
DR eggNOG; ENOG502QR97; Eukaryota.
DR GeneTree; ENSGT00390000011615; -.
DR HOGENOM; CLU_102991_0_0_1; -.
DR InParanoid; B3SHH9; -.
DR OMA; CYPLINP; -.
DR OrthoDB; 1265742at2759; -.
DR PhylomeDB; B3SHH9; -.
DR PathwayCommons; B3SHH9; -.
DR SignaLink; B3SHH9; -.
DR BioGRID-ORCS; 283953; 9 hits in 224 CRISPR screens.
DR ChiTaRS; TMEM114; human.
DR GenomeRNAi; 283953; -.
DR Pharos; B3SHH9; Tdark.
DR PRO; PR:B3SHH9; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; B3SHH9; protein.
DR Bgee; ENSG00000232258; Expressed in hypothalamus and 54 other tissues.
DR ExpressionAtlas; B3SHH9; baseline and differential.
DR GO; GO:0016324; C:apical plasma membrane; IBA:GO_Central.
DR GO; GO:0016327; C:apicolateral plasma membrane; IEA:Ensembl.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
DR InterPro; IPR039951; TMEM114/TMEM235.
DR PANTHER; PTHR20516; PTHR20516; 1.
DR Pfam; PF13903; Claudin_2; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Chromosomal rearrangement; Glycoprotein; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..223
FT /note="Transmembrane protein 114"
FT /id="PRO_0000352759"
FT TRANSMEM 7..27
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 106..126
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 134..154
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 189..209
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 55
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000250"
FT CARBOHYD 89
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000250"
FT VARIANT 35
FT /note="I -> T (in dbSNP:rs1048548807)"
FT /evidence="ECO:0000269|PubMed:17492639"
FT /id="VAR_058707"
FT VARIANT 147
FT /note="A -> V (in dbSNP:rs141472774)"
FT /evidence="ECO:0000269|PubMed:17492639"
FT /id="VAR_058708"
FT VARIANT 206
FT /note="F -> L"
FT /evidence="ECO:0000269|PubMed:17492639"
FT /id="VAR_058709"
FT CONFLICT 205
FT /note="A -> P (in Ref. 2; BF727259)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 223 AA; 24166 MW; 7D5D62698712B3CD CRC64;
MRVHLGGLAG AAALTGALSF VLLAAAIGTD FWYIIDTERL ERTGPGAQDL LGSINRSQPE
PLSSHSGLWR TCRVQSPCTP LMNPFRLENV TVSESSRQLL TMHGTFVILL PLSLILMVFG
GMTGFLSFLL QAYLLLLLTG ILFLFGAMVT LAGISVYIAY SAAAFREALC LLEEKALLDQ
VDISFGWSLA LGWISFIAEL LTGAAFLAAA RELSLRRRQD QAI
