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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TM9SF1 Gene

protein-coding   GIFtS: 48
GCID: GC14M024658

transmembrane 9 superfamily member 1

 Explore 1 disease affiliated with
TM9SF1 via our new
 Human Malady Compendium 
Biological research products
for TM9SF1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transmembrane 9 Superfamily Member 11 2     Multispanning Membrane Protein (70kD)2
HMP701 2     Transmembrane Protein 9 Superfamily Member 12
MP701 2     HMP701 2
MP70 Protein Family Member2 3     

External Ids:    HGNC: 118641   Entrez Gene: 105482   Ensembl: ENSG000001009267   UniProtKB: O153213   

Export aliases for TM9SF1 gene to outside databases

Previous GC identifers: GC14M022030 GC14M018445 GC14M022648 GC14M023728 GC14M004773


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: TM9S1_HUMAN, O15321
Function: Plays an essential role in autophagy




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TM9SF1 gene promoter:
         RFX1   Lmo2   RelA   Nkx2-5   Nkx5-1   c-Ets-1   GATA-1   PPAR-gamma1   PPAR-gamma2   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTM9SF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TM9SF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TM9SF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q12   HGNC cytogenetic band: 14q11.2

TM9SF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TM9SF1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M024658:  view genomic region     (about GC identifiers)

Start:
24,658,349 bp from pter      End:
24,682,679 bp from pter
Size:
24,331 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TM9S1_HUMAN, O15321 (See protein sequence)
Recommended Name: Transmembrane 9 superfamily member 1 precursor  
Size: 606 amino acids; 68861 Da
Subcellular location: Lysosome membrane; Multi-pass membrane protein. Cytoplasmic vesicle, autophagosome membrane;
Multi-pass membrane protein
Secondary accessions: D3DS65 Q86SZ6 Q96FI8
Alternative splicing: 2 isoforms:  O15321-1   O15321-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TM9SF1: NX_O15321

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15321

  • TM9SF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001014842.1  NP_006396.2  

    ENSEMBL proteins: 
     ENSP00000261789   ENSP00000432997   ENSP00000431747   ENSP00000434387   ENSP00000436486  
     ENSP00000380063   ENSP00000431447   ENSP00000437127   ENSP00000435857   ENSP00000432435  
     ENSP00000433792   ENSP00000451949  

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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TM9SF1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000421autophagic vacuole membrane IEA--
    GO:0005765lysosomal membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0031410cytoplasmic vesicle IEA--


    TM9SF1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TM9SF1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TM9SF1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR004240 EMP70

    Graphical View of Domain Structure for InterPro Entry O15321

    ProtoNet protein and cluster: O15321

    1 Blocks protein family: IPB004240 Nonaspanin (TM9SF)

    UniProtKB/Swiss-Prot: TM9S1_HUMAN, O15321
    Similarity: Belongs to the nonaspanin (TM9SF) family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TM9S1_HUMAN, O15321
    Function: Plays an essential role in autophagy

         Genatlas biochemistry entry for TM9SF1:
    transmembrane 9 superfamily,member 1,ubiquitously expressed

    miRNA
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    hsa-miR-3671 hsa-miR-590-3p
    SwitchGear 3'UTR luciferase reporter plasmidTM9SF1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TM9SF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/7 Interacting proteins for TM9SF1 (O153213 ENSP000002617894) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MMEP084733I2D: score=2 
    CLN3Q132863I2D: score=1 
    ATP6V1AENSP000002733984STRING: ENSP00000273398
    P2RX7ENSP000002618264STRING: ENSP00000261826
    RNASEH1ENSP000003133504STRING: ENSP00000313350
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006914autophagy IEA--
    GO:0015031protein transport ----


    TM9SF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TM9SF1
    Search CenterWatch for drugs/clinical trials and news about TM9SF1 / TM9S1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TM9SF1 gene (2 alternative transcripts): 
    NM_001014842.1  NM_006405.5  

    Unigene Cluster for TM9SF1:

    Transmembrane 9 superfamily member 1
    Hs.91586  [show with all ESTs]
    Unigene Representative Sequence: NM_006405
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261789(uc010toa.1 uc001wnb.1) ENST00000528669 ENST00000529332
    ENST00000524835 ENST00000532632 ENST00000396854(uc001wnc.3) ENST00000531406
    ENST00000528895 ENST00000530563 ENST00000530468 ENST00000525592 ENST00000528010
    ENST00000556387

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate TM9SF1:
    hsa-miR-3671 hsa-miR-590-3p
    SwitchGear 3'UTR luciferase reporter plasmidTM9SF1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TM9SF1 (see all 6)
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    Additional cDNA sequence: 

    AK292110.1 AK304642.1 BC010856.2 BX161390.1 BX161494.1 U94831.1 

    20 DOTS entries:

    DT.316366  DT.100858196  DT.100858198  DT.101984522  DT.100858200  DT.100858188  DT.316365  DT.100723743 
    DT.95190065  DT.120755398  DT.95094529  DT.100770753  DT.316368  DT.99951905  DT.100858189  DT.100772236 
    DT.100858191  DT.95210591  DT.99999972  DT.86997836 

    24/647 AceView cDNA sequences (see all 647):

    BQ221987 BU158214 AW438684 BX339718 AA385530 AA127785 BQ220620 CD109375 
    CB306204 AL708546 BU170173 BF108797 BI087419 BM822660 NM_006405 AW296244 
    BQ222839 BQ227526 BM548775 BF001674 AW573223 BM047035 CB148699 BE408797 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for TM9SF1 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c
    SP1:                                                                                            -           -     -                                       
    SP2:                                -                 -     -     -     -     -     -     -     -     -     -     -     -     -                           
    SP3:                                                                                            -           -     -                                       
    SP4:                    -     -     -     -                                                                                                               
    SP5:                                -     -                                                                                                               


    ECgene alternative splicing isoforms for TM9SF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TM9SF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCTGTTGAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TM9SF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TM9SF1

    SOURCE GeneReport for Unigene cluster: Hs.91586

    UniProtKB/Swiss-Prot: TM9S1_HUMAN, O15321
    Tissue specificity: Expressed in lung, pancreas, kidney, liver, placenta, skeletal muscle, heart and brain. The amount
    in skeletal muscle, heart and brain were considerably lower than in the other tissues

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TM9SF1 gene from 5/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    86(a)
    1 → many
    GL343400.1(56804-61579)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480506642   -- 77.03(n)    48050664 
    zebrafish
    (Danio rerio)
    Actinopterygii tm9sf11 transmembrane 9 superfamily member 1 70.8(n)
    76.81(a)
      445156  NM_001003550.1  NP_001003550.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G019701 putative endomembrane protein 70 54.5(n)
    50.27(a)
      814728  NM_126258.2  NP_178306.1 
    rice
    (Oryza sativa)
    Liliopsida Os.473652 Oryza sativa (japonica cultivar-group) putative Transmembrane more 80.58(n)    NM_189098.1 


    ENSEMBL Gene Tree for TM9SF1 (if available)
    TreeFam Gene Tree for TM9SF1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TM9SF1 gene
    TM9SF32  ENSG000002546922  ENSG000002595222  TM9SF22  TM9SF42  
    8 SIMAP similar genes for TM9SF1 using alignment to 11 protein entries:     TM9S1_HUMAN (see all proteins):
    CHMP4A    CHMP4B    CHMP4C    SMBP    TM9SF3    CHMP6
    TM9SF4    TM9SF2

    TM9SF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/174 NCBI SNPs in TM9SF1 are shown (see all 174    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2017044501,2
    --24657903(+) CCTGGC/TCCGGT 3 -- int10--------
    rs1862613931,2
    --24658218(+) CCCACG/TCCGGG 3 -- us2k1 int10--------
    rs1386562931,2
    --24658415(+) CTAAAA/GGCAAC 3 -- ut31 us2k10--------
    rs1904801161,2
    --24658433(+) GTTCAA/TATATA 3 -- us2k1 ut310--------
    rs1488699511,2
    --24658471(+) TTTCCA/TGGCCC 3 -- us2k1 ut310--------
    rs769304941,2
    --24658516(+) AAGGCA/CACAAT 3 -- us2k1 ut311Minor allele frequency- C:0.01EA 120
    rs22341151,2
    C,H--24658557(-) CCTACC/TAGCTT 3 -- ut31 us2k1 ese37Minor allele frequency- T:0.00NS EA NA 598
    rs2012282741,2
    --24658589(+) AAGGG-/AAGAGA 3 -- us2k1 ut310--------
    rs743177591,2
    C,F,--24658642(+) TTAACA/GTAGAT 4 Y us2k1 syn12Minor allele frequency- G:0.00NA 4672
    rs1826898871,2
    C,--24658655(+) ACCGGA/GTGAAC 4 T I us2k1 mis10--------

    HapMap Linkage Disequilibrium report for TM9SF1 (24658349 - 24682679 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TM9SF1
         1 CNV: 35245

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TM9SF1
    DNA2.0 Custom Variant and Variant Library Synthesis for TM9SF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TM9SF1 for disorders           About GeneDecksing

    1 disease for TM9SF1:    About MalaCards
    malaria


    Export disorders for TM9SF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TM9SF1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TM9SF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of a human multispanning membrane protein cDNA: evidence for a new protein family. (PubMed id 9332367)1, 2, 3, 9 Chluba-de Tapia J.... Eberle A.N. (1997)
    2. High-throughput functional screening for autophagy-related genes and identification of TM9SF1 as an autophagosome-inducing gene. (PubMed id 19029833)1, 2 He P.... Ma D. (2009)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. ErbB2-associated changes in the lysosomal proteome. (PubMed id 21674799)1 Nylandsted J....Jaattela M. (2011)
    6. HSP27 and HSP70 interact with CD10 in C4-2 prostate cancer cells. (PubMed id 17342744)1 Dall'Era M.A....Liu A.Y. (2007)
    7. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (2003)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. The iodocyanopindolol and SM-11044 binding protein belongs to the TM9SF multispanning membrane protein superfamily. (PubMed id 11595169)1 Sugasawa T....Nahmias C. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10548 HGNC: 11864 AceView: TM9SF1andIPO4 Ensembl:ENSG00000100926 euGenes: HUgn10548
    ECgene: TM9SF1 H-InvDB: TM9SF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TM9SF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TM9SF1 gene:
    Search GeneIP for patents involving TM9SF1

    GeneCards and IP:
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