TM235_HUMAN
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 03-AUG-2022, entry version 92.
DE RecName: Full=Transmembrane protein 235;
DE Flags: Precursor;
GN Name=TMEM235;
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 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., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., 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 the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE
RP [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 project:
RT 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 glycosylated
RT transmembrane proteins that are distinct from claudin 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};
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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 AlphaFoldDB; A6NFC5; -.
DR SMR; A6NFC5; -.
DR STRING; 9606.ENSP00000402790; -.
DR GlyGen; A6NFC5; 1 site.
DR BioMuta; TMEM235; -.
DR MassIVE; A6NFC5; -.
DR PaxDb; A6NFC5; -.
DR PeptideAtlas; A6NFC5; -.
DR PRIDE; A6NFC5; -.
DR ProteomicsDB; 1038; -. [A6NFC5-1]
DR ProteomicsDB; 1039; -. [A6NFC5-2]
DR ProteomicsDB; 1040; -. [A6NFC5-3]
DR Antibodypedia; 64790; 5 antibodies from 5 providers.
DR DNASU; 283999; -.
DR Ensembl; ENST00000421688.6; ENSP00000402790.2; ENSG00000204278.13. [A6NFC5-1]
DR Ensembl; ENST00000550981.7; ENSP00000447766.3; ENSG00000204278.13. [A6NFC5-2]
DR Ensembl; ENST00000586400.5; ENSP00000466793.1; ENSG00000204278.13. [A6NFC5-3]
DR GeneID; 283999; -.
DR KEGG; hsa:283999; -.
DR MANE-Select; ENST00000421688.7; ENSP00000402790.2; NM_001395503.1; NP_001382432.1.
DR UCSC; uc002jvk.4; human. [A6NFC5-1]
DR CTD; 283999; -.
DR DisGeNET; 283999; -.
DR GeneCards; TMEM235; -.
DR HGNC; HGNC:27563; TMEM235.
DR HPA; ENSG00000204278; Tissue enriched (brain).
DR neXtProt; NX_A6NFC5; -.
DR OpenTargets; ENSG00000204278; -.
DR VEuPathDB; HostDB:ENSG00000204278; -.
DR eggNOG; ENOG502S049; Eukaryota.
DR GeneTree; ENSGT00390000011615; -.
DR HOGENOM; CLU_102991_0_0_1; -.
DR InParanoid; A6NFC5; -.
DR OMA; LWRTCEG; -.
DR OrthoDB; 1265742at2759; -.
DR PhylomeDB; A6NFC5; -.
DR PathwayCommons; A6NFC5; -.
DR BioGRID-ORCS; 283999; 21 hits in 1076 CRISPR screens.
DR GenomeRNAi; 283999; -.
DR Pharos; A6NFC5; Tdark.
DR PRO; PR:A6NFC5; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; A6NFC5; protein.
DR Bgee; ENSG00000204278; Expressed in C1 segment of cervical spinal cord and 51 other tissues.
DR ExpressionAtlas; A6NFC5; baseline and differential.
DR Genevisible; A6NFC5; HS.
DR GO; GO:0016324; C:apical plasma membrane; IBA:GO_Central.
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; Endoplasmic reticulum; Glycoprotein; Membrane;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..28
FT /evidence="ECO:0000255"
FT CHAIN 29..223
FT /note="Transmembrane protein 235"
FT /id="PRO_0000406902"
FT TRANSMEM 96..116
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 126..146
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 176..196
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 41
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 64..91
FT /note="GQNGCIPLVDPFASESLDVSTSVQHLIL -> V (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040887"
FT VAR_SEQ 65..137
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="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
