TM270_HUMAN
ID TM270_HUMAN Reviewed; 265 AA.
AC Q6UE05; Q6UE04; Q8NHP4;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-OCT-2007, sequence version 2.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=Transmembrane protein 270 {ECO:0000305};
DE AltName: Full=Williams-Beuren syndrome chromosomal region 28 protein {ECO:0000312|HGNC:HGNC:23018};
GN Name=TMEM270 {ECO:0000312|HGNC:HGNC:23018};
GN Synonyms=WBSCR28 {ECO:0000312|HGNC:HGNC:23018};
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 [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF
RP 14-265 (ISOFORM 2), AND VARIANTS ASN-14 AND ARG-78.
RX PubMed=18398435; DOI=10.1038/ejhg.2008.68;
RA Micale L., Fusco C., Augello B., Napolitano L.M.R., Dermitzakis E.T.,
RA Meroni G., Merla G., Reymond A.;
RT "Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.";
RL Eur. J. Hum. Genet. 16:1038-1049(2008).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ASN-14;
RP ASP-70 AND ARG-78.
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).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA Arakawa T., Carninci P., Fukuda S., Hasegawa A., Hayashida K., Hori F.,
RA Kai C., Kawai J., Kojima M., Murata M., Nakamura M., Nishiyori H.,
RA Nomura K., Ohno M., Sasaki D., Shibazaki E., Tagami M., Tagami Y.,
RA Hayashizaki Y.;
RL Submitted (MAR-2006) to the EMBL/GenBank/DDBJ databases.
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=Q6UE05-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UE05-2; Sequence=VSP_039997, VSP_039998;
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAQ74836.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
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DR EMBL; AY372053; AAQ74835.1; -; mRNA.
DR EMBL; AY372054; AAQ74836.1; ALT_SEQ; mRNA.
DR EMBL; AC093168; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC030643; AAH30643.1; -; mRNA.
DR EMBL; DB455624; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS43597.1; -. [Q6UE05-1]
DR RefSeq; NP_872310.2; NM_182504.3. [Q6UE05-1]
DR RefSeq; XP_011514087.1; XM_011515785.2.
DR RefSeq; XP_016867230.1; XM_017011741.1.
DR AlphaFoldDB; Q6UE05; -.
DR SMR; Q6UE05; -.
DR BioGRID; 126434; 3.
DR STRING; 9606.ENSP00000316775; -.
DR iPTMnet; Q6UE05; -.
DR PhosphoSitePlus; Q6UE05; -.
DR BioMuta; TMEM270; -.
DR DMDM; 160221324; -.
DR MassIVE; Q6UE05; -.
DR PaxDb; Q6UE05; -.
DR PeptideAtlas; Q6UE05; -.
DR PRIDE; Q6UE05; -.
DR Antibodypedia; 28566; 39 antibodies from 10 providers.
DR DNASU; 135886; -.
DR Ensembl; ENST00000320531.3; ENSP00000316775.2; ENSG00000175877.4. [Q6UE05-1]
DR Ensembl; ENST00000426490.1; ENSP00000403621.1; ENSG00000175877.4. [Q6UE05-2]
DR GeneID; 135886; -.
DR KEGG; hsa:135886; -.
DR MANE-Select; ENST00000320531.3; ENSP00000316775.2; NM_182504.4; NP_872310.2.
DR UCSC; uc003tzk.2; human. [Q6UE05-1]
DR CTD; 135886; -.
DR GeneCards; TMEM270; -.
DR HGNC; HGNC:23018; TMEM270.
DR HPA; ENSG00000175877; Tissue enriched (testis).
DR MIM; 612547; gene.
DR neXtProt; NX_Q6UE05; -.
DR OpenTargets; ENSG00000175877; -.
DR Orphanet; 904; Williams syndrome.
DR PharmGKB; PA145147726; -.
DR VEuPathDB; HostDB:ENSG00000175877; -.
DR eggNOG; ENOG502T0K9; Eukaryota.
DR GeneTree; ENSGT00390000009243; -.
DR HOGENOM; CLU_1049556_0_0_1; -.
DR InParanoid; Q6UE05; -.
DR OMA; VTWTTCL; -.
DR OrthoDB; 1511708at2759; -.
DR PhylomeDB; Q6UE05; -.
DR TreeFam; TF337697; -.
DR PathwayCommons; Q6UE05; -.
DR BioGRID-ORCS; 135886; 9 hits in 1056 CRISPR screens.
DR ChiTaRS; WBSCR28; human.
DR GenomeRNAi; 135886; -.
DR Pharos; Q6UE05; Tdark.
DR PRO; PR:Q6UE05; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q6UE05; protein.
DR Bgee; ENSG00000175877; Expressed in right testis and 56 other tissues.
DR Genevisible; Q6UE05; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR029166; WBS28.
DR PANTHER; PTHR37369; PTHR37369; 1.
DR Pfam; PF15164; WBS28; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..265
FT /note="Transmembrane protein 270"
FT /id="PRO_0000308415"
FT TRANSMEM 72..92
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 130..150
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 185..205
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 229..265
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 229..258
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 25..60
FT /note="LVQNRDHLYNFLLLKINLFNHWVSGLAQEARGSCNW -> RQGLALSPSLER
FT SGAGSARCSLQLPVSSNPPPSASK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:18398435, ECO:0000303|Ref.4"
FT /id="VSP_039997"
FT VAR_SEQ 61..265
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:18398435, ECO:0000303|Ref.4"
FT /id="VSP_039998"
FT VARIANT 14
FT /note="I -> N (in dbSNP:rs11770052)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:18398435"
FT /id="VAR_036813"
FT VARIANT 67
FT /note="G -> V (in dbSNP:rs56933025)"
FT /id="VAR_061720"
FT VARIANT 70
FT /note="A -> D (in dbSNP:rs17852792)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_036814"
FT VARIANT 78
FT /note="W -> R (in dbSNP:rs13227841)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:18398435"
FT /id="VAR_036815"
SQ SEQUENCE 265 AA; 29433 MW; 2C1169A4F43AE708 CRC64;
MEALPPVRSS LLGILLQVTR LSVLLVQNRD HLYNFLLLKI NLFNHWVSGL AQEARGSCNW
QAHLPLGAAA CPLGQALWAG LALIQVPVWL VLQGPRLMWA GMWGSTKGLG LALLSAWEQL
GLSVAIWTDL FLSCLHGLML VALLLVVVTW RVCQKSHCFR LGRQLSKALQ VNCVVRKLLV
QLRRLYWWVE TMTALTSWHL AYLITWTTCL ASHLLQAAFE HTTQLAEAQE VEPQEVSGSS
LLPSLSASSD SESGTVLPEQ ETPRE
