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Q9BZW5 (TM6S1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane 6 superfamily member 1
Gene names
Name:TM6SF1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length370 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Enhanced expression in spleen, testis and peripheral blood leukocytes.

Sequence similarities

Belongs to the TM6SF family.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BZW5-1)

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.
Isoform 2 (identifier: Q9BZW5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     237-267: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 370370Transmembrane 6 superfamily member 1
PRO_0000181833

Regions

Transmembrane5 – 2723Helical; Potential
Transmembrane32 – 5423Helical; Potential
Transmembrane63 – 8220Helical; Potential
Transmembrane110 – 13223Helical; Potential
Transmembrane139 – 16123Helical; Potential
Transmembrane167 – 18923Helical; Potential
Transmembrane216 – 23823Helical; Potential
Transmembrane266 – 28823Helical; Potential
Transmembrane333 – 35523Helical; Potential

Natural variations

Alternative sequence237 – 26731Missing in isoform 2.
VSP_045697
Natural variant171I → T.
Corresponds to variant rs1062232 [ dbSNP | Ensembl ].
VAR_012844
Natural variant591P → S.
Corresponds to variant rs1989 [ dbSNP | Ensembl ].
VAR_024661

Experimental info

Sequence conflict111V → M in AAY44754. Ref.2
Sequence conflict2011K → R in AAY44754. Ref.2
Sequence conflict3411A → V in AAG59699. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 14, 2008. Version 2.
Checksum: 57E0BC11BBF16D68

FASTA37041,636
        10         20         30         40         50         60 
MSASAATGVF VLSLSAIPVT YVFNHLAAQH DSWTIVGVAA LILFLVALLA RVLVKRKPPR 

        70         80         90        100        110        120 
DPLFYVYAVF GFTSVVNLII GLEQDGIIDG FMTHYLREGE PYLNTAYGHM ICYWDGSAHY 

       130        140        150        160        170        180 
LMYLVMVAAI AWEETYRTIG LYWVGSIIMS VVVFVPGNIV GKYGTRICPA FFLSIPYTCL 

       190        200        210        220        230        240 
PVWAGFRIYN QPSENYNYPS KVIQEAQAKD LLRRPFDLML VVCLLLATGF CLFRGLIALD 

       250        260        270        280        290        300 
CPSELCRLYT QFQEPYLKDP AAYPKIQMLA YMFYSVPYFV TALYGLVVPG CSWMPDITLI 

       310        320        330        340        350        360 
HAGGLAQAQF SHIGASLHAR TAYVYRVPEE AKILFLALNI AYGVLPQLLA YRCIYKPEFF 

       370 
IKTKAEEKVE 

« Hide

Isoform 2 [UniParc].

Checksum: 68DE5CBDE5E2B743
Show »

FASTA33938,039

References

« Hide 'large scale' references
[1]"Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24-q26 and 19p13.3-p12."
Carim-Todd L., Escarceller M., Estivill X., Sumoy L.
Cytogenet. Cell Genet. 90:255-260(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]Lin L., Nong W., Zhou G., Li H., Ke R., Shen C., Zhong G., Zheng Z., Liang M., Li M., Yang S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Synovium.
[4]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001138375.1. NM_001144903.1.
NP_075379.2. NM_023003.3.
UniGeneHs.513094.

3D structure databases

ProteinModelPortalQ9BZW5.
ModBaseSearch...
MobiDBSearch...

Polymorphism databases

DMDM209572686.

Proteomic databases

PaxDbQ9BZW5.
PRIDEQ9BZW5.

Protocols and materials databases

DNASU53346.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000322019; ENSP00000317000; ENSG00000136404. [Q9BZW5-1]
ENST00000565774; ENSP00000457477; ENSG00000136404. [Q9BZW5-2]
GeneID53346.
KEGGhsa:53346.
UCSCuc002bjp.3. human. [Q9BZW5-1]

Organism-specific databases

CTD53346.
GeneCardsGC15P083776.
H-InvDBHIX0012521.
HIX0132563.
HGNCHGNC:11860. TM6SF1.
HPAHPA016051.
MIM606562. gene.
neXtProtNX_Q9BZW5.
PharmGKBPA36561.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40028.
HOGENOMHOG000035128.
HOVERGENHBG057405.
OrthoDBEOG7W41BT.
PhylomeDBQ9BZW5.
TreeFamTF333088.

Gene expression databases

ArrayExpressQ9BZW5.
BgeeQ9BZW5.
CleanExHS_TM6SF1.
GenevestigatorQ9BZW5.

Family and domain databases

InterProIPR016964. Transmembrane_6/97.
[Graphical view]
PfamPF10914. DUF2781. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi53346.
NextBio55994.
PROQ9BZW5.
SOURCESearch...

Entry information

Entry nameTM6S1_HUMAN
AccessionPrimary (citable) accession number: Q9BZW5
Secondary accession number(s): A8K7T5, H3BU56, Q4U0U5
Entry history
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: October 14, 2008
Last modified: March 19, 2014
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM