ID TM235_HUMAN Reviewed; 223 AA. AC A6NFC5; C9JRE6; DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot. DT 05-APR-2011, sequence version 3. DT 16-JAN-2019, entry version 74. DE RecName: Full=Transmembrane protein 235; DE Flags: Precursor; GN Name=TMEM235; 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 [LARGE SCALE GENOMIC DNA]. RX PubMed=16625196; DOI=10.1038/nature04689; RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.; RT "DNA sequence of human chromosome 17 and analysis of rearrangement in RT the human lineage."; RL Nature 440:1045-1049(2006). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE RP SEQUENCE [LARGE SCALE MRNA] OF 3-223 (ISOFORM 2). 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 [3] 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 RT glycosylated transmembrane proteins that are distinct from claudin RT family members."; RL FEBS Lett. 585:2187-2192(2011). CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane CC protein {ECO:0000305}. Endoplasmic reticulum {ECO:0000305}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=A6NFC5-1; Sequence=Displayed; CC Name=2; CC IsoId=A6NFC5-2; Sequence=VSP_040887; CC Name=3; CC IsoId=A6NFC5-3; Sequence=VSP_040888; CC -!- DEVELOPMENTAL STAGE: Not detected before gestational days 53-54. CC Expressed in the eye at gestational week 10. CC {ECO:0000269|PubMed:21689651}. CC -!- PTM: N-glycosylated. {ECO:0000250}. CC -!- SIMILARITY: Belongs to the PMP-22/EMP/MP20 family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=EAW89517.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; 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; AC087645; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471099; EAW89517.1; ALT_SEQ; Genomic_DNA. DR EMBL; BC042066; -; NOT_ANNOTATED_CDS; mRNA. DR EMBL; BM907084; -; NOT_ANNOTATED_CDS; mRNA. DR CCDS; CCDS56046.1; -. [A6NFC5-1] DR CCDS; CCDS56047.1; -. [A6NFC5-2] DR CCDS; CCDS56048.1; -. [A6NFC5-3] DR RefSeq; NP_001191139.1; NM_001204210.1. [A6NFC5-1] DR RefSeq; NP_001191140.1; NM_001204211.1. [A6NFC5-2] DR RefSeq; NP_001191141.1; NM_001204212.1. [A6NFC5-3] DR UniGene; Hs.632228; -. DR ProteinModelPortal; A6NFC5; -. DR BioMuta; TMEM235; -. DR PaxDb; A6NFC5; -. DR PRIDE; A6NFC5; -. DR ProteomicsDB; 1038; -. DR ProteomicsDB; 1039; -. [A6NFC5-2] DR ProteomicsDB; 1040; -. [A6NFC5-3] DR Ensembl; ENST00000374946; ENSP00000364084; ENSG00000204278. [A6NFC5-2] DR Ensembl; ENST00000421688; ENSP00000402790; ENSG00000204278. [A6NFC5-1] DR Ensembl; ENST00000550981; ENSP00000447766; ENSG00000204278. [A6NFC5-2] DR Ensembl; ENST00000551068; ENSP00000446514; ENSG00000204278. [A6NFC5-1] DR Ensembl; ENST00000586400; ENSP00000466793; ENSG00000204278. [A6NFC5-3] DR GeneID; 283999; -. DR KEGG; hsa:283999; -. DR UCSC; uc002jvk.4; human. [A6NFC5-1] DR CTD; 283999; -. DR EuPathDB; HostDB:ENSG00000204278.12; -. DR GeneCards; TMEM235; -. DR HGNC; HGNC:27563; TMEM235. DR HPA; HPA053939; -. DR neXtProt; NX_A6NFC5; -. DR OpenTargets; ENSG00000204278; -. DR eggNOG; ENOG410J07W; Eukaryota. DR eggNOG; ENOG410YPVG; LUCA. DR GeneTree; ENSGT00390000011615; -. DR HOVERGEN; HBG076521; -. DR InParanoid; A6NFC5; -. DR OrthoDB; 1265742at2759; -. DR PhylomeDB; A6NFC5; -. DR GenomeRNAi; 283999; -. DR PRO; PR:A6NFC5; -. DR Proteomes; UP000005640; Chromosome 17. DR Bgee; ENSG00000204278; Expressed in 61 organ(s), highest expression level in substantia nigra. DR ExpressionAtlas; A6NFC5; baseline and differential. DR Genevisible; A6NFC5; HS. DR GO; GO:0016324; C:apical plasma membrane; IEA:Ensembl. DR GO; GO:0005783; C:endoplasmic reticulum; IEA:UniProtKB-SubCell. 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 2: Evidence at transcript level; KW Alternative splicing; Complete proteome; Endoplasmic reticulum; KW Glycoprotein; Membrane; Reference proteome; Signal; Transmembrane; KW Transmembrane helix. FT SIGNAL 1 28 {ECO:0000255}. FT CHAIN 29 223 Transmembrane protein 235. FT /FTId=PRO_0000406902. FT TRANSMEM 96 116 Helical. {ECO:0000255}. FT TRANSMEM 126 146 Helical. {ECO:0000255}. FT TRANSMEM 176 196 Helical. {ECO:0000255}. FT CARBOHYD 41 41 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT VAR_SEQ 64 91 GQNGCIPLVDPFASESLDVSTSVQHLIL -> V (in FT isoform 2). FT {ECO:0000303|PubMed:15489334}. FT /FTId=VSP_040887. FT VAR_SEQ 65 137 Missing (in isoform 3). FT {ECO:0000303|PubMed:15489334}. FT /FTId=VSP_040888. SQ SEQUENCE 223 AA; 23360 MW; 566E4D43388B9DDF CRC64; MARLGALLLA AALGALLSFA LLAAAVASDY WYILEVADAG NGSAWPGRAE LLSSHSGLWR ICEGQNGCIP LVDPFASESL DVSTSVQHLI LLHRAVIVVL PLSLVLLVCG WICGLLSSLA QSVSLLLFTG CYFLLGSVLT LAGVSIYISY SHLAFAETVQ QYGPQHMQGV RVSFGWSMAL AWGSCALEAF SGTLLLSAAW TLSLSPPICG HLSPQQVGGR GGD //