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Q9BZW5

- TM6S1_HUMAN

UniProt

Q9BZW5 - TM6S1_HUMAN

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Protein
Transmembrane 6 superfamily member 1
Gene
TM6SF1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5 - Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane 6 superfamily member 1
Gene namesi
Name:TM6SF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:11860. TM6SF1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei5 – 2723Helical; Reviewed prediction
Add
BLAST
Transmembranei32 – 5423Helical; Reviewed prediction
Add
BLAST
Transmembranei63 – 8220Helical; Reviewed prediction
Add
BLAST
Transmembranei110 – 13223Helical; Reviewed prediction
Add
BLAST
Transmembranei139 – 16123Helical; Reviewed prediction
Add
BLAST
Transmembranei167 – 18923Helical; Reviewed prediction
Add
BLAST
Transmembranei216 – 23823Helical; Reviewed prediction
Add
BLAST
Transmembranei266 – 28823Helical; Reviewed prediction
Add
BLAST
Transmembranei333 – 35523Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA36561.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 370370Transmembrane 6 superfamily member 1
PRO_0000181833Add
BLAST

Proteomic databases

MaxQBiQ9BZW5.
PaxDbiQ9BZW5.
PRIDEiQ9BZW5.

Expressioni

Tissue specificityi

Enhanced expression in spleen, testis and peripheral blood leukocytes.

Gene expression databases

ArrayExpressiQ9BZW5.
BgeeiQ9BZW5.
CleanExiHS_TM6SF1.
GenevestigatoriQ9BZW5.

Organism-specific databases

HPAiHPA016051.

Structurei

3D structure databases

ProteinModelPortaliQ9BZW5.

Family & Domainsi

Sequence similaritiesi

Belongs to the TM6SF family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG40028.
HOGENOMiHOG000035128.
HOVERGENiHBG057405.
OrthoDBiEOG7W41BT.
PhylomeDBiQ9BZW5.
TreeFamiTF333088.

Family and domain databases

InterProiIPR016964. Transmembrane_6/97.
[Graphical view]
PfamiPF10914. DUF2781. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MSASAATGVF VLSLSAIPVT YVFNHLAAQH DSWTIVGVAA LILFLVALLA    50
RVLVKRKPPR DPLFYVYAVF GFTSVVNLII GLEQDGIIDG FMTHYLREGE 100
PYLNTAYGHM ICYWDGSAHY LMYLVMVAAI AWEETYRTIG LYWVGSIIMS 150
VVVFVPGNIV GKYGTRICPA FFLSIPYTCL PVWAGFRIYN QPSENYNYPS 200
KVIQEAQAKD LLRRPFDLML VVCLLLATGF CLFRGLIALD CPSELCRLYT 250
QFQEPYLKDP AAYPKIQMLA YMFYSVPYFV TALYGLVVPG CSWMPDITLI 300
HAGGLAQAQF SHIGASLHAR TAYVYRVPEE AKILFLALNI AYGVLPQLLA 350
YRCIYKPEFF IKTKAEEKVE 370
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171I → T.
Corresponds to variant rs1062232 [ dbSNP | Ensembl ].
VAR_012844
Natural varianti59 – 591P → S.
Corresponds to variant rs1989 [ dbSNP | Ensembl ].
VAR_024661

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei237 – 26731Missing in isoform 2.
VSP_045697Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti11 – 111V → M in AAY44754. 1 Publication
Sequence conflicti201 – 2011K → R in AAY44754. 1 Publication
Sequence conflicti341 – 3411A → V in AAG59699. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q9BZW5-1]

Polymorphism databases

DMDMi209572686.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS10323.1. [Q9BZW5-1 ]
CCDS45338.1. [Q9BZW5-2 ]
RefSeqi NP_001138375.1. NM_001144903.1. [Q9BZW5-2 ]
NP_075379.2. NM_023003.3. [Q9BZW5-1 ]
UniGenei Hs.513094.

3D structure databases

ProteinModelPortali Q9BZW5.
ModBasei Search...

Polymorphism databases

DMDMi 209572686.

Proteomic databases

MaxQBi Q9BZW5.
PaxDbi Q9BZW5.
PRIDEi Q9BZW5.

Protocols and materials databases

DNASUi 53346.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000322019 ; ENSP00000317000 ; ENSG00000136404 . [Q9BZW5-1 ]
ENST00000565774 ; ENSP00000457477 ; ENSG00000136404 . [Q9BZW5-2 ]
GeneIDi 53346.
KEGGi hsa:53346.
UCSCi uc002bjp.3. human. [Q9BZW5-1 ]

Organism-specific databases

CTDi 53346.
GeneCardsi GC15P083776.
H-InvDBi HIX0012521.
HIX0132563.
HGNCi HGNC:11860. TM6SF1.
HPAi HPA016051.
MIMi 606562. gene.
neXtProti NX_Q9BZW5.
PharmGKBi PA36561.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40028.
HOGENOMi HOG000035128.
HOVERGENi HBG057405.
OrthoDBi EOG7W41BT.
PhylomeDBi Q9BZW5.
TreeFami TF333088.

Miscellaneous databases

GenomeRNAii 53346.
NextBioi 55994.
PROi Q9BZW5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BZW5.
Bgeei Q9BZW5.
CleanExi HS_TM6SF1.
Genevestigatori Q9BZW5.

Family and domain databases

InterProi IPR016964. Transmembrane_6/97.
[Graphical view ]
Pfami PF10914. DUF2781. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiTM6S1_HUMAN
AccessioniPrimary (citable) accession number: Q9BZW5
Secondary accession number(s): A8K7T5, H3BU56, Q4U0U5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: October 14, 2008
Last modified: July 9, 2014
This is version 87 of the entry and version 2 of the sequence. [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

External Data

Dasty 3

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