TM217_HUMAN
ID TM217_HUMAN Reviewed; 229 AA.
AC Q8N7C4; Q8TC54;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Transmembrane protein 217;
GN Name=TMEM217; Synonyms=C6orf128;
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] (ISOFORM 1).
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N7C4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N7C4-2; Sequence=VSP_014386, VSP_014387;
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DR EMBL; AK098666; BAC05371.1; -; mRNA.
DR EMBL; AL353579; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC026012; AAH26012.1; -; mRNA.
DR CCDS; CCDS4831.1; -. [Q8N7C4-1]
DR CCDS; CCDS69102.1; -. [Q8N7C4-2]
DR RefSeq; NP_001273330.1; NM_001286401.1. [Q8N7C4-2]
DR RefSeq; NP_660359.2; NM_145316.3. [Q8N7C4-1]
DR RefSeq; XP_011512668.1; XM_011514366.2. [Q8N7C4-1]
DR AlphaFoldDB; Q8N7C4; -.
DR STRING; 9606.ENSP00000338164; -.
DR GlyGen; Q8N7C4; 2 sites.
DR BioMuta; TMEM217; -.
DR DMDM; 68565216; -.
DR PaxDb; Q8N7C4; -.
DR PeptideAtlas; Q8N7C4; -.
DR PRIDE; Q8N7C4; -.
DR Antibodypedia; 67407; 42 antibodies from 9 providers.
DR DNASU; 221468; -.
DR Ensembl; ENST00000336655.7; ENSP00000338164.2; ENSG00000172738.12. [Q8N7C4-1]
DR Ensembl; ENST00000356757.7; ENSP00000349198.2; ENSG00000172738.12. [Q8N7C4-2]
DR Ensembl; ENST00000650973.1; ENSP00000498793.1; ENSG00000172738.12. [Q8N7C4-1]
DR Ensembl; ENST00000651039.1; ENSP00000499204.1; ENSG00000172738.12. [Q8N7C4-2]
DR GeneID; 221468; -.
DR KEGG; hsa:221468; -.
DR MANE-Select; ENST00000651039.2; ENSP00000499204.1; NM_001286401.2; NP_001273330.1. [Q8N7C4-2]
DR UCSC; uc003onl.5; human. [Q8N7C4-1]
DR CTD; 221468; -.
DR DisGeNET; 221468; -.
DR GeneCards; TMEM217; -.
DR HGNC; HGNC:21238; TMEM217.
DR HPA; ENSG00000172738; Tissue enhanced (testis).
DR neXtProt; NX_Q8N7C4; -.
DR OpenTargets; ENSG00000172738; -.
DR PharmGKB; PA162406568; -.
DR VEuPathDB; HostDB:ENSG00000172738; -.
DR eggNOG; ENOG502S81N; Eukaryota.
DR GeneTree; ENSGT00730000111479; -.
DR HOGENOM; CLU_105458_0_0_1; -.
DR InParanoid; Q8N7C4; -.
DR OMA; IWILFYE; -.
DR OrthoDB; 1278355at2759; -.
DR PhylomeDB; Q8N7C4; -.
DR TreeFam; TF338544; -.
DR PathwayCommons; Q8N7C4; -.
DR BioGRID-ORCS; 221468; 9 hits in 1065 CRISPR screens.
DR ChiTaRS; TMEM217; human.
DR GenomeRNAi; 221468; -.
DR Pharos; Q8N7C4; Tdark.
DR PRO; PR:Q8N7C4; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8N7C4; protein.
DR Bgee; ENSG00000172738; Expressed in testis and 99 other tissues.
DR ExpressionAtlas; Q8N7C4; baseline and differential.
DR Genevisible; Q8N7C4; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR027862; DUF4534.
DR PANTHER; PTHR34928; PTHR34928; 1.
DR Pfam; PF15049; DUF4534; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..229
FT /note="Transmembrane protein 217"
FT /id="PRO_0000089528"
FT TRANSMEM 13..33
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 67..87
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 94..114
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 129..149
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 39
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 156
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 202..211
FT /note="SFHTSIFTCL -> RRCSGKTSIK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014386"
FT VAR_SEQ 212..229
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014387"
SQ SEQUENCE 229 AA; 26582 MW; B469BABA66AA99D7 CRC64;
MKQQQWCGMT AKMGTVLSGV FTIMAVDMYL IFEQKHLGNG SCTEITPKYR GASNIINNFI
ICWSFKIVLF LSFITILISC FLLYSVYAQI FRGLVIYIVW IFFYETANVV IQILTNNDFD
IKEVRIMRWF GLVSRTVMHC FWMFFVINYA HITYKNRSQG NIISYKRRIS TAEILHSRNK
RLSISSGFSG SHLESQYFER QSFHTSIFTC LSPVPSSAPS TCRYTIDVC