Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Transmembrane 6 superfamily member 1

Gene

TM6SF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May function as sterol isomerase.1 Publication

Protein family/group databases

TCDBi8.A.93.2.1 the sigma2 receptor or tmem97 (s2r) family
8.A.93.2.4 the sigma2 receptor or tmem97 (s2r) family

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane 6 superfamily member 1
Gene namesi
Name:TM6SF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000136404.15
HGNCiHGNC:11860 TM6SF1
MIMi606562 gene
neXtProtiNX_Q9BZW5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei3 – 23Helical; Name=1Sequence analysisAdd BLAST21
Transmembranei34 – 54Helical; Name=2Sequence analysisAdd BLAST21
Transmembranei62 – 82Helical; Name=3Sequence analysisAdd BLAST21
Transmembranei110 – 130Helical; Name=4Sequence analysisAdd BLAST21
Transmembranei139 – 159Helical; Name=5Sequence analysisAdd BLAST21
Transmembranei166 – 186Helical; Name=6Sequence analysisAdd BLAST21
Transmembranei218 – 238Helical; Name=7Sequence analysisAdd BLAST21
Transmembranei268 – 288Helical; Name=8Sequence analysisAdd BLAST21
Transmembranei331 – 351Helical; Name=9Sequence analysisAdd BLAST21

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi53346
OpenTargetsiENSG00000136404
PharmGKBiPA36561

Polymorphism and mutation databases

BioMutaiTM6SF1
DMDMi209572686

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001818331 – 370Transmembrane 6 superfamily member 1Add BLAST370

Proteomic databases

MaxQBiQ9BZW5
PaxDbiQ9BZW5
PeptideAtlasiQ9BZW5
PRIDEiQ9BZW5
ProteomicsDBi79911

Expressioni

Tissue specificityi

Enhanced expression in spleen, testis and peripheral blood leukocytes.

Gene expression databases

BgeeiENSG00000136404
CleanExiHS_TM6SF1
ExpressionAtlasiQ9BZW5 baseline and differential
GenevisibleiQ9BZW5 HS

Organism-specific databases

HPAiHPA016051
HPA056857

Interactioni

Protein-protein interaction databases

BioGridi119747, 1 interactor
STRINGi9606.ENSP00000317000

Structurei

3D structure databases

ProteinModelPortaliQ9BZW5
SMRiQ9BZW5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini60 – 185EXPERA 1PROSITE-ProRule annotationAdd BLAST126
Domaini216 – 350EXPERA 2PROSITE-ProRule annotationAdd BLAST135

Sequence similaritiesi

Belongs to the TM6SF family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJ78 Eukaryota
ENOG41113JR LUCA
GeneTreeiENSGT00390000012913
HOGENOMiHOG000035128
HOVERGENiHBG057405
InParanoidiQ9BZW5
OMAiIAWEESY
OrthoDBiEOG091G0919
PhylomeDBiQ9BZW5
TreeFamiTF333088

Family and domain databases

InterProiView protein in InterPro
IPR033118 EXPERA
PROSITEiView protein in PROSITE
PS51751 EXPERA, 2 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BZW5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSASAATGVF VLSLSAIPVT YVFNHLAAQH DSWTIVGVAA LILFLVALLA
60 70 80 90 100
RVLVKRKPPR DPLFYVYAVF GFTSVVNLII GLEQDGIIDG FMTHYLREGE
110 120 130 140 150
PYLNTAYGHM ICYWDGSAHY LMYLVMVAAI AWEETYRTIG LYWVGSIIMS
160 170 180 190 200
VVVFVPGNIV GKYGTRICPA FFLSIPYTCL PVWAGFRIYN QPSENYNYPS
210 220 230 240 250
KVIQEAQAKD LLRRPFDLML VVCLLLATGF CLFRGLIALD CPSELCRLYT
260 270 280 290 300
QFQEPYLKDP AAYPKIQMLA YMFYSVPYFV TALYGLVVPG CSWMPDITLI
310 320 330 340 350
HAGGLAQAQF SHIGASLHAR TAYVYRVPEE AKILFLALNI AYGVLPQLLA
360 370
YRCIYKPEFF IKTKAEEKVE
Length:370
Mass (Da):41,636
Last modified:October 14, 2008 - v2
Checksum:i57E0BC11BBF16D68
GO
Isoform 2 (identifier: Q9BZW5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     237-267: Missing.

Note: No experimental confirmation available.
Show »
Length:339
Mass (Da):38,039
Checksum:i68DE5CBDE5E2B743
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti11V → M in AAY44754 (Ref. 2) Curated1
Sequence conflicti201K → R in AAY44754 (Ref. 2) Curated1
Sequence conflicti341A → V in AAG59699 (PubMed:11124529).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01284417I → T. Corresponds to variant dbSNP:rs1062232Ensembl.1
Natural variantiVAR_02466159P → S. Corresponds to variant dbSNP:rs1989Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045697237 – 267Missing in isoform 2. 1 PublicationAdd BLAST31

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF255922 mRNA Translation: AAG59699.1
DQ021909 mRNA Translation: AAY44754.1
AK292100 mRNA Translation: BAF84789.1
AC024270 Genomic DNA No translation available.
CH471188 Genomic DNA Translation: EAW62428.1
CCDSiCCDS10323.1 [Q9BZW5-1]
CCDS45338.1 [Q9BZW5-2]
RefSeqiNP_001138375.1, NM_001144903.1 [Q9BZW5-2]
NP_075379.2, NM_023003.3 [Q9BZW5-1]
UniGeneiHs.513094

Genome annotation databases

EnsembliENST00000322019; ENSP00000317000; ENSG00000136404 [Q9BZW5-1]
ENST00000565774; ENSP00000457477; ENSG00000136404 [Q9BZW5-2]
GeneIDi53346
KEGGihsa:53346
UCSCiuc002bjp.4 human [Q9BZW5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTM6S1_HUMAN
AccessioniPrimary (citable) accession number: Q9BZW5
Secondary accession number(s): A8K7T5, H3BU56, Q4U0U5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: October 14, 2008
Last modified: June 20, 2018
This is version 112 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health