ID TEFF1_HUMAN Reviewed; 380 AA. AC Q8IYR6; Q13086; Q8N3T8; DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot. DT 01-MAR-2003, sequence version 1. DT 16-JUN-2009, entry version 58. DE RecName: Full=Tomoregulin-1; DE AltName: Full=Transmembrane protein with EGF-like and one follistatin-like domain; DE AltName: Full=TR-1; DE AltName: Full=H7365; DE Flags: Precursor; GN Name=TMEFF1; Synonyms=C9orf2; 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 1). RC TISSUE=Brain; RX MEDLINE=96355746; PubMed=8752111; RA Eib D.W., Martens G.J.M.; RT "A novel transmembrane protein with epidermal growth factor and RT follistatin domains expressed in the hypothalamo-hypophysial axis of RT Xenopus laevis."; RL J. Neurochem. 67:1047-1055(1996). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Amygdala; 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., Blocker H., RA Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., RA Ottenwalder B., Poustka A., 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 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 [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). 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 [5] RP TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND FUNCTION. RX PubMed=12743596; DOI=10.1038/sj.onc.1206351; RA Gery S., Yin D., Xie D., Black K.L., Koeffler H.P.; RT "TMEFF1 and brain tumors."; RL Oncogene 22:2723-2727(2003). RN [6] RP POSSIBLE INTERACTION WITH ST14, AND IDENTIFICATION BY MASS RP SPECTROMETRY. RX PubMed=16407223; DOI=10.1074/jbc.M510687200; RA Ge W., Hu H., Ding K., Sun L., Zheng S.; RT "Protein interaction analysis of ST14 domains and their point and RT deletion mutants."; RL J. Biol. Chem. 281:7406-7412(2006). CC -!- FUNCTION: May inhibit NODAL and BMP signaling during neural CC patterning (By similarity). May be a tumor suppressor in brain CC cancers. CC -!- SUBUNIT: May interact with ST14. CC -!- SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane CC protein. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q8IYR6-1; Sequence=Displayed; CC Name=2; CC IsoId=Q8IYR6-2; Sequence=VSP_024959; CC Note=No experimental confirmation available; CC -!- TISSUE SPECIFICITY: Expressed predominantly in brain, and at lower CC levels in heart, placenta and skeletal muscle. Down-regulated in CC brain tumors as compared to control brain tissues. CC -!- SIMILARITY: Belongs to the tomoregulin family. CC -!- SIMILARITY: Contains 1 EGF-like domain. CC -!- SIMILARITY: Contains 2 Kazal-like domains. CC -!- SEQUENCE CAUTION: CC Sequence=AAA64622.1; Type=Frameshift; Positions=293, 297; CC Sequence=CAA58791.1; Type=Frameshift; Positions=293, 297; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; U19878; AAA64622.1; ALT_FRAME; mRNA. DR EMBL; X83961; CAA58791.1; ALT_FRAME; mRNA. DR EMBL; AL831919; CAD38580.2; -; mRNA. DR EMBL; AL353805; CAI12543.1; -; Genomic_DNA. DR EMBL; AL354917; CAI12543.1; JOINED; Genomic_DNA. DR EMBL; AL354917; CAI16192.1; -; Genomic_DNA. DR EMBL; AL353805; CAI16192.1; JOINED; Genomic_DNA. DR EMBL; BC035056; AAH35056.1; -; mRNA. DR IPI; IPI00293588; -. DR IPI; IPI00843884; -. DR PIR; G01639; G01639. DR RefSeq; NP_003683.2; -. DR UniGene; Hs.598100; -. DR HSSP; P00995; 1HPT. DR MEROPS; I01.974; -. DR PRIDE; Q8IYR6; -. DR Ensembl; ENSG00000066697; Homo sapiens. DR GeneID; 8577; -. DR KEGG; hsa:8577; -. DR GeneCards; GC09P102230; -. DR HGNC; HGNC:11866; TMEFF1. DR MIM; 603421; gene. DR PharmGKB; PA36567; -. DR HOVERGEN; Q8IYR6; -. DR OMA; Q8IYR6; KASCRCE. DR NextBio; 32175; -. DR ArrayExpress; Q8IYR6; -. DR Bgee; Q8IYR6; -. DR CleanEx; HS_TMEFF1; -. DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW. DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell. DR GO; GO:0007275; P:multicellular organismal development; IEA:UniProtKB-KW. DR InterPro; IPR006209; EGF. DR InterPro; IPR006210; EGF-like. DR InterPro; IPR013032; EGF-like_reg_CS. DR InterPro; IPR000742; EGF_3. DR InterPro; IPR002350; Prot_inh_Kazal. DR Pfam; PF00008; EGF; 1. DR Pfam; PF00050; Kazal_1; 2. DR SMART; SM00181; EGF; 1. DR SMART; SM00280; KAZAL; 2. DR PROSITE; PS00022; EGF_1; 1. DR PROSITE; PS01186; EGF_2; 1. DR PROSITE; PS50026; EGF_3; 2. PE 1: Evidence at protein level; KW Alternative splicing; Cell membrane; Developmental protein; KW Disulfide bond; EGF-like domain; Membrane; Polymorphism; Repeat; KW Signal; Transmembrane. FT SIGNAL 1 39 Potential. FT CHAIN 40 380 Tomoregulin-1. FT /FTId=PRO_0000286056. FT TOPO_DOM 40 330 Extracellular (Potential). FT TRANSMEM 331 351 Potential. FT TOPO_DOM 352 380 Cytoplasmic (Potential). FT DOMAIN 99 143 Kazal-like 1. FT DOMAIN 190 235 Kazal-like 2. FT DOMAIN 271 311 EGF-like. FT COMPBIAS 45 52 Poly-Gly. FT DISULFID 275 288 By similarity. FT DISULFID 283 299 By similarity. FT DISULFID 301 310 By similarity. FT VAR_SEQ 1 65 MGAAAAEAPLRLPAAPPLAFCCYTSVLLLFAFSLPGSRASN FT QPPGGGGGSGGDCPGGKGKSINCS -> MLPEQLYFLQSPP FT EEEPEYHPDASAQ (in isoform 2). FT /FTId=VSP_024959. FT VARIANT 189 189 V -> I (in dbSNP:rs35624603). FT /FTId=VAR_032060. FT CONFLICT 7 7 E -> Q (in Ref. 1; AAA64622/CAA58791). FT CONFLICT 11 11 R -> G (in Ref. 1; AAA64622/CAA58791). FT CONFLICT 16 23 PPLAFCCY -> SARLLLLA (in Ref. 1; FT AAA64622/CAA58791). FT CONFLICT 50 50 S -> T (in Ref. 1; AAA64622/CAA58791). SQ SEQUENCE 380 AA; 40934 MW; 0F95B3469ACD4601 CRC64; MGAAAAEAPL RLPAAPPLAF CCYTSVLLLF AFSLPGSRAS NQPPGGGGGS GGDCPGGKGK SINCSELNVR ESDVRVCDES SCKYGGVCKE DGDGLKCACQ FQCHTNYIPV CGSNGDTYQN ECFLRRAACK HQKEITVIAR GPCYSDNGSG SGEGEEEGSG AEVHRKHSKC GPCKYKAECD EDAENVGCVC NIDCSGYSFN PVCASDGSSY NNPCFVREAS CIKQEQIDIR HLGHCTDTDD TSLLGKKDDG LQYRPDVKDA SDQREDVYIG NHMPCPENLN GYCIHGKCEF IYSTQKASCR CESGYTGQHC EKTDFSILYV VPSRQKLTHV LIAAIIGAVQ IAIIVAIVMC ITRKCPKNNR GRRQKQNLGH FTSDTSSRMV //