ID TMM8B_HUMAN Reviewed; 472 AA.
AC A6NDV4; B3KQF3; O75539; Q49AB1; Q4KMX5; Q5TCW5; Q9HBY2; Q9P0U7;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 01-MAY-2013, entry version 53.
DE RecName: Full=Transmembrane protein 8B;
DE AltName: Full=Nasopharyngeal carcinoma-associated gene 6 protein;
DE AltName: Full=Protein NAG-5;
DE AltName: Full=Protein NGX6;
GN Name=TMEM8B; Synonyms=C9orf127, NGX6;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RX PubMed=11565907; DOI=10.1023/A:1010912311564;
RA Li J., Tan C., Xiang Q., Zhang X., Ma J., Wang J.-R., Yang J.,
RA Li W.-F., Shen S.-R., Liang S., Li G.-Y.;
RT "Proteomic detection of changes in protein synthesis induced by NGX6
RT transfected in human nasopharyngeal carcinoma cells.";
RL J. Protein Chem. 20:265-271(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RA Yu W., Gibbs R.A.;
RL Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
RA Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
RA Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
RA Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
RA Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
RA Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
RA Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
RA Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
RA Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
RA Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
RA Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
RA Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
RA McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
RA Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
RA Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
RA Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
RA Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
RA Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
RA Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
RA Rogers J., Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP FUNCTION, INTERACTION WITH EZR, SUBCELLULAR LOCATION, GLYCOSYLATION,
RP AND INDUCTION.
RX PubMed=15498789; DOI=10.1093/carcin/bgh312;
RA Ma J., Zhou J., Fan S., Wang L.-L., Li X.-L., Yan Q., Zhou M.,
RA Liu H.-Y., Zhang Q., Zhou H., Gan K., Li Z., Peng C., Xiong W.,
RA Tan C., Shen S.-R., Yang J., Li J., Li G.-Y.;
RT "Role of a novel EGF-like domain-containing gene NGX6 in cell adhesion
RT modulation in nasopharyngeal carcinoma cells.";
RL Carcinogenesis 26:281-291(2005).
RN [8]
RP FUNCTION.
RX PubMed=15723283; DOI=10.1002/jcb.20393;
RA Wang L.-L., Ma J., Li J., Li X.-L., Zhang Q., Peng S.-P., Peng C.,
RA Zhou M., Xiong W., Yang J., Zhou J., Fan S., Tan C., Yan Q.,
RA Shen S.-R., Li G.-Y.;
RT "NGX6 gene inhibits cell proliferation and plays a negative role in
RT EGFR pathway in nasopharyngeal carcinoma cells.";
RL J. Cell. Biochem. 95:64-73(2005).
RN [9]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=17641538; DOI=10.1159/000106073;
RA Peng S.P., Li X.-L., Wang L., Ou-Yang J., Ma J., Wang L.-L.,
RA Liu H.-Y., Zhou M., Tang Y.-L., Li W.-S., Luo X.-M., Cao L., Tang K.,
RA Shen S.-R., Li G.-Y.;
RT "The role of NGX6 and its deletion mutants in the proliferation,
RT adhesion and migration of nasopharyngeal carcinoma 5-8F cells.";
RL Oncology 71:273-281(2006).
RN [10]
RP FUNCTION, AND INTERACTION WITH EZR.
RX PubMed=17270023; DOI=10.1111/j.1349-7006.2007.00410.x;
RA Peng S.-P., Fan S., Li X.-L., Wang L., Liu H.-Y., Zhou M., Wang L.-L.,
RA Shen S.-R., Li G.-Y.;
RT "The expression of ezrin in NPC and its interaction with NGX6, a novel
RT candidate suppressor.";
RL Cancer Sci. 98:341-349(2007).
CC -!- FUNCTION: May function as a regulator of the EGFR pathway.
CC Probable tumor suppressor which may function in cell growth,
CC proliferation and adhesion.
CC -!- SUBUNIT: Isoform 2 (via its cytoplasmic part) interacts with EZR.
CC -!- SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Multi-pass
CC membrane protein (Probable). Cytoplasm (Probable). Nucleus
CC (Probable). Mitochondrion. Endoplasmic reticulum. Note=Also
CC detected in mitochondrion and endoplasmic reticulum.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=A6NDV4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A6NDV4-2; Sequence=VSP_033452, VSP_033453;
CC Name=3;
CC IsoId=A6NDV4-3; Sequence=VSP_033450, VSP_033451, VSP_033452,
CC VSP_033453;
CC Note=No experimental confirmation available;
CC -!- INDUCTION: Isoform 2 is down-regulated in nasopharyngeal carcinoma
CC cells.
CC -!- PTM: Isoform 2 is N-glycosylated.
CC -!- SIMILARITY: Belongs to the TMEM8 family.
CC -!- SIMILARITY: Contains 1 EGF-like domain.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC28644.1; Type=Erroneous initiation;
CC Sequence=AAF34820.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
CC Sequence=AAF34820.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part;
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DR EMBL; AF149297; AAF34820.1; ALT_SEQ; mRNA.
DR EMBL; AF188239; AAG29055.1; -; mRNA.
DR EMBL; AF070572; AAC28644.1; ALT_INIT; mRNA.
DR EMBL; AK074844; BAG52015.1; -; mRNA.
DR EMBL; AL133410; CAI10995.1; -; Genomic_DNA.
DR EMBL; AL133410; CAI10996.2; -; Genomic_DNA.
DR EMBL; CH471071; EAW58325.1; -; Genomic_DNA.
DR EMBL; BC041377; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC098265; AAH98265.1; -; mRNA.
DR EMBL; BC098296; AAH98296.1; -; mRNA.
DR EMBL; BC099733; AAH99733.1; -; mRNA.
DR IPI; IPI00415061; -.
DR IPI; IPI00513780; -.
DR IPI; IPI00894263; -.
DR RefSeq; NP_001036054.1; NM_001042589.2.
DR RefSeq; NP_001036055.1; NM_001042590.2.
DR RefSeq; NP_057530.2; NM_016446.3.
DR UniGene; Hs.493808; -.
DR ProteinModelPortal; A6NDV4; -.
DR MINT; MINT-2873602; -.
DR PaxDb; A6NDV4; -.
DR PRIDE; A6NDV4; -.
DR Ensembl; ENST00000377988; ENSP00000367227; ENSG00000137103.
DR Ensembl; ENST00000377991; ENSP00000367230; ENSG00000137103.
DR Ensembl; ENST00000377996; ENSP00000367235; ENSG00000137103.
DR Ensembl; ENST00000439587; ENSP00000395810; ENSG00000137103.
DR GeneID; 51754; -.
DR KEGG; hsa:51754; -.
DR UCSC; uc003zyk.3; human.
DR UCSC; uc003zym.3; human.
DR CTD; 51754; -.
DR GeneCards; GC09P035814; -.
DR HGNC; HGNC:21427; TMEM8B.
DR HPA; HPA052130; -.
DR neXtProt; NX_A6NDV4; -.
DR PharmGKB; PA165586305; -.
DR eggNOG; NOG77604; -.
DR OMA; TIAIRSH; -.
DR ChiTaRS; TMEM8B; human.
DR GenomeRNAi; 51754; -.
DR NextBio; 55850; -.
DR ArrayExpress; A6NDV4; -.
DR Bgee; A6NDV4; -.
DR CleanEx; HS_C9orf127; -.
DR Genevestigator; A6NDV4; -.
DR GO; GO:0009986; C:cell surface; IDA:HGNC.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0005739; C:mitochondrion; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; IDA:HGNC.
DR GO; GO:0007160; P:cell-matrix adhesion; IMP:HGNC.
DR GO; GO:0040008; P:regulation of growth; IEA:UniProtKB-KW.
DR GO; GO:0007346; P:regulation of mitotic cell cycle; TAS:HGNC.
DR InterPro; IPR021910; DUF3522.
DR InterPro; IPR000742; EG-like_dom.
DR InterPro; IPR013032; EGF-like_CS.
DR Pfam; PF12036; DUF3522; 1.
DR SMART; SM00181; EGF; 1.
DR PROSITE; PS00022; EGF_1; 1.
DR PROSITE; PS01186; EGF_2; 1.
DR PROSITE; PS50026; EGF_3; FALSE_NEG.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell adhesion; Cell membrane; Complete proteome;
KW Cytoplasm; Disulfide bond; EGF-like domain; Endoplasmic reticulum;
KW Glycoprotein; Growth regulation; Membrane; Mitochondrion; Nucleus;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1 472 Transmembrane protein 8B.
FT /FTId=PRO_0000333039.
FT TOPO_DOM 1 233 Extracellular (Potential).
FT TRANSMEM 234 254 Helical; (Potential).
FT TOPO_DOM 255 257 Cytoplasmic (Potential).
FT TRANSMEM 258 277 Helical; (Potential).
FT TOPO_DOM 278 292 Extracellular (Potential).
FT TRANSMEM 293 313 Helical; (Potential).
FT TOPO_DOM 314 315 Cytoplasmic (Potential).
FT TRANSMEM 316 336 Helical; (Potential).
FT TOPO_DOM 337 342 Extracellular (Potential).
FT TRANSMEM 343 363 Helical; (Potential).
FT TOPO_DOM 364 379 Cytoplasmic (Potential).
FT TRANSMEM 380 400 Helical; (Potential).
FT TOPO_DOM 401 405 Extracellular (Potential).
FT TRANSMEM 406 426 Helical; (Potential).
FT TOPO_DOM 427 472 Cytoplasmic (Potential).
FT DOMAIN 182 221 EGF-like.
FT CARBOHYD 92 92 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 100 100 N-linked (GlcNAc...) (Potential).
FT DISULFID 186 196 By similarity.
FT DISULFID 190 209 By similarity.
FT DISULFID 211 220 By similarity.
FT VAR_SEQ 1 81 Missing (in isoform 3).
FT /FTId=VSP_033450.
FT VAR_SEQ 82 93 GGVLSLELQLNA -> MWRPHFHTCPPQ (in isoform
FT 3).
FT /FTId=VSP_033451.
FT VAR_SEQ 274 337 FYHACDQPGIVVFCIMDYDVLQFCDFLGSLMSVWVTVIAMA
FT RLQPVVKQVLYLLGAMLLSMALQ -> VCGGVCILSLGACA
FT WWWVTVCISTTFSEGLGMSVPSLCLLQTETAVLPKLSCIDN
FT GHFCKTHWSK (in isoform 2 and isoform 3).
FT /FTId=VSP_033452.
FT VAR_SEQ 338 472 Missing (in isoform 2 and isoform 3).
FT /FTId=VSP_033453.
FT CONFLICT 178 178 R -> W (in Ref. 6; AAH98296).
SQ SEQUENCE 472 AA; 51941 MW; 3E5EA4495CF54389 CRC64;
MNMPQSLGNQ PLPPEPPSLG TPAEGPGTTS PPEHCWPVRP TLRNELDTFS VHFYIFFGPS
VALPPERPAV FAMRLLPVLD SGGVLSLELQ LNASSVRQEN VTVFGCLTHE VPLSLGDAAV
TCSKESLAGF LLSVSATTRV ARLRIPFPQT GTWFLALRSL CGVGPRFVRC RNATAEVRMR
TFLSPCVDDC GPYGQCKLLR THNYLYAACE CKAGWRGWGC TDSADALTYG FQLLSTLLLC
LSNLMFLPPV VLAIRSRYVL EAAVYTFTMF FSTFYHACDQ PGIVVFCIMD YDVLQFCDFL
GSLMSVWVTV IAMARLQPVV KQVLYLLGAM LLSMALQLDR HGLWNLLGPS LFALGILATA
WTVRSVRRRH CYPPTWRRWL FYLCPGSLIA GSAVLLYAFV ETRDNYFYIH SIWHMLIAGS
VGFLLPPRAK TDHGVPSGAR ARGCGYQLCI NEQEELGLVG PGGATVSSIC AS
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