TM196_HUMAN
ID TM196_HUMAN Reviewed; 178 AA.
AC Q5HYL7; Q8N6I6;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 109.
DE RecName: Full=Transmembrane protein 196;
GN Name=TMEM196;
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] (ISOFORMS 2 AND 4).
RC TISSUE=Endometrium;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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 Q5HYL7-3; Q96AL5: PBX3; NbExp=3; IntAct=EBI-12822537, EBI-741171;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q5HYL7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5HYL7-2; Sequence=VSP_030928;
CC Name=3;
CC IsoId=Q5HYL7-3; Sequence=VSP_030928, VSP_030929;
CC Name=4;
CC IsoId=Q5HYL7-4; Sequence=VSP_039208;
CC -!- SEQUENCE CAUTION:
CC Sequence=BX648384; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; BX647256; CAI46055.1; -; mRNA.
DR EMBL; BX648384; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC004543; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471073; EAW93715.1; -; Genomic_DNA.
DR EMBL; CH471073; EAW93716.1; -; Genomic_DNA.
DR EMBL; BC030104; AAH30104.1; -; mRNA.
DR CCDS; CCDS34607.2; -. [Q5HYL7-4]
DR RefSeq; NP_689987.3; NM_152774.3. [Q5HYL7-4]
DR RefSeq; XP_011513552.1; XM_011515250.2.
DR AlphaFoldDB; Q5HYL7; -.
DR BioGRID; 129140; 8.
DR IntAct; Q5HYL7; 5.
DR STRING; 9606.ENSP00000384234; -.
DR iPTMnet; Q5HYL7; -.
DR PhosphoSitePlus; Q5HYL7; -.
DR BioMuta; TMEM196; -.
DR DMDM; 166988175; -.
DR PaxDb; Q5HYL7; -.
DR PeptideAtlas; Q5HYL7; -.
DR PRIDE; Q5HYL7; -.
DR Antibodypedia; 52300; 35 antibodies from 10 providers.
DR DNASU; 256130; -.
DR Ensembl; ENST00000405764.7; ENSP00000384234.3; ENSG00000173452.14. [Q5HYL7-4]
DR Ensembl; ENST00000433641.5; ENSP00000406460.1; ENSG00000173452.14. [Q5HYL7-3]
DR Ensembl; ENST00000493519.2; ENSP00000438368.1; ENSG00000173452.14. [Q5HYL7-2]
DR GeneID; 256130; -.
DR KEGG; hsa:256130; -.
DR UCSC; uc011jyg.3; human. [Q5HYL7-1]
DR CTD; 256130; -.
DR DisGeNET; 256130; -.
DR GeneCards; TMEM196; -.
DR HGNC; HGNC:22431; TMEM196.
DR HPA; ENSG00000173452; Group enriched (brain, retina).
DR neXtProt; NX_Q5HYL7; -.
DR OpenTargets; ENSG00000173452; -.
DR PharmGKB; PA162406335; -.
DR VEuPathDB; HostDB:ENSG00000173452; -.
DR eggNOG; ENOG502RXKV; Eukaryota.
DR GeneTree; ENSGT00940000163002; -.
DR HOGENOM; CLU_2249253_0_0_1; -.
DR InParanoid; Q5HYL7; -.
DR PhylomeDB; Q5HYL7; -.
DR TreeFam; TF332520; -.
DR PathwayCommons; Q5HYL7; -.
DR SignaLink; Q5HYL7; -.
DR BioGRID-ORCS; 256130; 12 hits in 1063 CRISPR screens.
DR GenomeRNAi; 256130; -.
DR Pharos; Q5HYL7; Tdark.
DR PRO; PR:Q5HYL7; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q5HYL7; protein.
DR Bgee; ENSG00000173452; Expressed in synovial joint and 72 other tissues.
DR ExpressionAtlas; Q5HYL7; baseline and differential.
DR Genevisible; Q5HYL7; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR037661; TMEM196.
DR PANTHER; PTHR28681; PTHR28681; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..178
FT /note="Transmembrane protein 196"
FT /id="PRO_0000317256"
FT TRANSMEM 11..31
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 47..67
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 73..93
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 106..126
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..74
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_030928"
FT VAR_SEQ 50..55
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_039208"
FT VAR_SEQ 160..178
FT /note="EITDNMSNGGPQLIFNGRV -> IEGY (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030929"
FT CONFLICT 158
FT /note="E -> G (in Ref. 1; BX648384)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 178 AA; 19025 MW; E73C72CD628CE960 CRC64;
MCTSGQIIGS LLVLSVLEIG LGVSSVAVGA VSFSLALREH KPQLGDSSPV WSGVCFLLCG
ICGILCAKKK SGLVMILFSA CCICGLIGGI LNFQFLRAVT KKTSSLYPLH LASMSLACIG
IGGCTLSSWL TCRLASYEQR RMFSEREHSL HHSHEMAEKE ITDNMSNGGP QLIFNGRV
