Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9BZW5

- TM6S1_HUMAN

UniProt

Q9BZW5 - TM6S1_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 2 (14 Oct 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    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 1PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

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

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TM6SF family.Curated

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti11 – 111V → M in AAY44754. 1 PublicationCurated
    Sequence conflicti201 – 2011K → R in AAY44754. 1 PublicationCurated
    Sequence conflicti341 – 3411A → V in AAG59699. (PubMed:11124529)Curated

    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. 1 PublicationVSP_045697Add
    BLAST

    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...
    MobiDBi 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-InvDB 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

    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: October 1, 2014
    This is version 88 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