UniProtKB - Q6UE05 (TM270_HUMAN)
Protein
Transmembrane protein 270
Gene
TMEM270
Organism
Homo sapiens (Human)
Status
Names & Taxonomyi
Protein namesi | Recommended name: Transmembrane protein 270CuratedAlternative name(s): Williams-Beuren syndrome chromosomal region 28 proteinImported |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:23018, TMEM270 |
MIMi | 612547, gene |
neXtProti | NX_Q6UE05 |
VEuPathDBi | HostDB:ENSG00000175877.3 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 72 – 92 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 130 – 150 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 185 – 205 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Organism-specific databases
OpenTargetsi | ENSG00000175877 |
PharmGKBi | PA145147726 |
Miscellaneous databases
Pharosi | Q6UE05, Tdark |
Genetic variation databases
BioMutai | TMEM270 |
DMDMi | 160221324 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000308415 | 1 – 265 | Transmembrane protein 270Add BLAST | 265 |
Proteomic databases
PaxDbi | Q6UE05 |
PeptideAtlasi | Q6UE05 |
PRIDEi | Q6UE05 |
ProteomicsDBi | 67409 [Q6UE05-1] 67410 [Q6UE05-2] |
PTM databases
iPTMneti | Q6UE05 |
PhosphoSitePlusi | Q6UE05 |
Expressioni
Gene expression databases
Bgeei | ENSG00000175877, Expressed in right testis and 58 other tissues |
Genevisiblei | Q6UE05, HS |
Organism-specific databases
HPAi | ENSG00000175877, Tissue enriched (testis) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 126434, 1 interactor |
STRINGi | 9606.ENSP00000316775 |
Miscellaneous databases
RNActi | Q6UE05, protein |
Family & Domainsi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502T0K9, Eukaryota |
GeneTreei | ENSGT00390000009243 |
HOGENOMi | CLU_1049556_0_0_1 |
InParanoidi | Q6UE05 |
OMAi | WRVCQKA |
OrthoDBi | 1511708at2759 |
PhylomeDBi | Q6UE05 |
TreeFami | TF337697 |
Family and domain databases
InterProi | View protein in InterPro IPR029166, WBS28 |
PANTHERi | PTHR37369, PTHR37369, 1 hit |
Pfami | View protein in Pfam PF15164, WBS28, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q6UE05-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEALPPVRSS LLGILLQVTR LSVLLVQNRD HLYNFLLLKI NLFNHWVSGL
60 70 80 90 100
AQEARGSCNW QAHLPLGAAA CPLGQALWAG LALIQVPVWL VLQGPRLMWA
110 120 130 140 150
GMWGSTKGLG LALLSAWEQL GLSVAIWTDL FLSCLHGLML VALLLVVVTW
160 170 180 190 200
RVCQKSHCFR LGRQLSKALQ VNCVVRKLLV QLRRLYWWVE TMTALTSWHL
210 220 230 240 250
AYLITWTTCL ASHLLQAAFE HTTQLAEAQE VEPQEVSGSS LLPSLSASSD
260
SESGTVLPEQ ETPRE
Isoform 2 (identifier: Q6UE05-2) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
25-60: LVQNRDHLYNFLLLKINLFNHWVSGLAQEARGSCNW → RQGLALSPSLERSGAGSARCSLQLPVSSNPPPSASK
61-265: Missing.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »Sequence cautioni
The sequence AAQ74836 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036813 | 14 | I → N2 PublicationsCorresponds to variant dbSNP:rs11770052Ensembl. | 1 | |
Natural variantiVAR_061720 | 67 | G → V. Corresponds to variant dbSNP:rs56933025Ensembl. | 1 | |
Natural variantiVAR_036814 | 70 | A → D1 PublicationCorresponds to variant dbSNP:rs17852792Ensembl. | 1 | |
Natural variantiVAR_036815 | 78 | W → R2 PublicationsCorresponds to variant dbSNP:rs13227841Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_039997 | 25 – 60 | LVQNR…GSCNW → RQGLALSPSLERSGAGSARC SLQLPVSSNPPPSASK in isoform 2. 2 PublicationsAdd BLAST | 36 | |
Alternative sequenceiVSP_039998 | 61 – 265 | Missing in isoform 2. 2 PublicationsAdd BLAST | 205 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY372053 mRNA Translation: AAQ74835.1 AY372054 mRNA Translation: AAQ74836.1 Sequence problems. AC093168 Genomic DNA No translation available. BC030643 mRNA Translation: AAH30643.1 DB455624 mRNA No translation available. |
CCDSi | CCDS43597.1 [Q6UE05-1] |
RefSeqi | NP_872310.2, NM_182504.3 [Q6UE05-1] XP_011514087.1, XM_011515785.2 XP_016867230.1, XM_017011741.1 |
Genome annotation databases
Ensembli | ENST00000320531; ENSP00000316775; ENSG00000175877 [Q6UE05-1] ENST00000426490; ENSP00000403621; ENSG00000175877 [Q6UE05-2] |
GeneIDi | 135886 |
KEGGi | hsa:135886 |
UCSCi | uc003tzk.2, human [Q6UE05-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY372053 mRNA Translation: AAQ74835.1 AY372054 mRNA Translation: AAQ74836.1 Sequence problems. AC093168 Genomic DNA No translation available. BC030643 mRNA Translation: AAH30643.1 DB455624 mRNA No translation available. |
CCDSi | CCDS43597.1 [Q6UE05-1] |
RefSeqi | NP_872310.2, NM_182504.3 [Q6UE05-1] XP_011514087.1, XM_011515785.2 XP_016867230.1, XM_017011741.1 |
3D structure databases
SMRi | Q6UE05 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126434, 1 interactor |
STRINGi | 9606.ENSP00000316775 |
PTM databases
iPTMneti | Q6UE05 |
PhosphoSitePlusi | Q6UE05 |
Genetic variation databases
BioMutai | TMEM270 |
DMDMi | 160221324 |
Proteomic databases
PaxDbi | Q6UE05 |
PeptideAtlasi | Q6UE05 |
PRIDEi | Q6UE05 |
ProteomicsDBi | 67409 [Q6UE05-1] 67410 [Q6UE05-2] |
Protocols and materials databases
Antibodypediai | 28566, 33 antibodies |
DNASUi | 135886 |
Genome annotation databases
Ensembli | ENST00000320531; ENSP00000316775; ENSG00000175877 [Q6UE05-1] ENST00000426490; ENSP00000403621; ENSG00000175877 [Q6UE05-2] |
GeneIDi | 135886 |
KEGGi | hsa:135886 |
UCSCi | uc003tzk.2, human [Q6UE05-1] |
Organism-specific databases
CTDi | 135886 |
GeneCardsi | TMEM270 |
HGNCi | HGNC:23018, TMEM270 |
HPAi | ENSG00000175877, Tissue enriched (testis) |
MIMi | 612547, gene |
neXtProti | NX_Q6UE05 |
OpenTargetsi | ENSG00000175877 |
PharmGKBi | PA145147726 |
VEuPathDBi | HostDB:ENSG00000175877.3 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502T0K9, Eukaryota |
GeneTreei | ENSGT00390000009243 |
HOGENOMi | CLU_1049556_0_0_1 |
InParanoidi | Q6UE05 |
OMAi | WRVCQKA |
OrthoDBi | 1511708at2759 |
PhylomeDBi | Q6UE05 |
TreeFami | TF337697 |
Enzyme and pathway databases
PathwayCommonsi | Q6UE05 |
Miscellaneous databases
BioGRID-ORCSi | 135886, 3 hits in 865 CRISPR screens |
ChiTaRSi | WBSCR28, human |
GenomeRNAii | 135886 |
Pharosi | Q6UE05, Tdark |
PROi | PR:Q6UE05 |
RNActi | Q6UE05, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000175877, Expressed in right testis and 58 other tissues |
Genevisiblei | Q6UE05, HS |
Family and domain databases
InterProi | View protein in InterPro IPR029166, WBS28 |
PANTHERi | PTHR37369, PTHR37369, 1 hit |
Pfami | View protein in Pfam PF15164, WBS28, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TM270_HUMAN | |
Accessioni | Q6UE05Primary (citable) accession number: Q6UE05 Secondary accession number(s): Q6UE04, Q8NHP4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 23, 2007 |
Last sequence update: | October 23, 2007 | |
Last modified: | February 10, 2021 | |
This is version 108 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants