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TMEM147 Gene

protein-coding   GIFtS: 50
GCID: GC19P036038

Transmembrane Protein 147

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transmembrane Protein 1471 2
Protein NIFIE 142 3
NIFIE142
Seven Transmembrane Domain Protein2

External Ids:    HGNC: 304141   Entrez Gene: 104302   Ensembl: ENSG000001056777   OMIM: 6135855   UniProtKB: Q9BVK83   

Export aliases for TMEM147 gene to outside databases

Previous GC identifers: GC19P040729 GC19P036037 GC19P032541


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TMEM147 Gene:
TMEM147 (transmembrane protein 147) is a protein-coding gene.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM147 gene promoter:
         GR   RP58   Pax-6   NCX/Ncx   HNF-4alpha2   AP-4   HNF-4alpha1   GATA-2   GR-alpha   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM147 promoter sequence
   Search Chromatin IP Primers for TMEM147

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM147


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.12

TMEM147 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM147 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P036038:  view genomic region     (about GC identifiers)

Start:
36,036,497 bp from pter      End:
36,038,429 bp from pter
Size:
1,933 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TM147_HUMAN, Q9BVK8 (See protein sequence)
Recommended Name: Transmembrane protein 147  
Size: 224 amino acids; 25261 Da
Subunit: Forms a complex with NCLN and NOMO2, resulting in a stabilization of the 3 proteins, which are otherwise
quickly degraded by the proteasome. Due to the strong similarity between NOMO1, NOMO2 and NOMO3, probably also
interacts with NOMO1 and NOMO3
Sequence caution: Sequence=BG697070; Type=Frameshift; Positions=213;
Secondary accessions: A8MWW0 O75790
Alternative splicing: 2 isoforms:  Q9BVK8-1   Q9BVK8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM147: NX_Q9BVK8

Explore proteomics data for TMEM147 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TMEM147 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001229526.1  NP_001229527.1  NP_116024.1  

    ENSEMBL proteins: 
     ENSP00000222284   ENSP00000466262   ENSP00000376040   ENSP00000376041  

    TMEM147 Human Recombinant Protein Products:

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    Novus Biologicals TMEM147 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TMEM147

     
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    antibodies-online peptides for TMEM147

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    antibodies-online antibodies for TMEM147 (26 products) 

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    Cloud-Clone Corp. ELISAs for TMEM147
    Cloud-Clone Corp. CLIAs for TMEM147
    Search eBioscience for ELISAs for TMEM147 
    antibodies-online kits for TMEM147 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019164 DUF2053_membrane

    Graphical View of Domain Structure for InterPro Entry Q9BVK8

    ProtoNet protein and cluster: Q9BVK8


    Find genes that share domains with TMEM147           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TMEM147

    miRNA
    Products:
        
    miRTarBase miRNAs that target TMEM147:
    hsa-mir-877-5p (MIRT037287), hsa-mir-98-5p (MIRT027608), hsa-mir-21-5p (MIRT050475)

    Block miRNA regulation of human, mouse, rat TMEM147 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate TMEM147:
    hsa-miR-452
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    Predesigned siRNA for gene silencing in human, mouse, rat TMEM147

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: TMEM147 (NM_032635)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM147
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM147

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM147 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM147


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TM147_HUMAN, Q9BVK8: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with TMEM147           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM147
    Interactions:

        Search GeneGlobe Interaction Network for TMEM147

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for TMEM147 (Q9BVK82, 3 ENSP000002222844) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABHD16AO958702, 3, ENSP000003792824MINT-62776 MINT-62602 MINT-62700 I2D: score=5 STRING: ENSP00000379282
    ENSG00000236063O958702, 3, ENSP000004069654MINT-62776 MINT-62602 MINT-62700 I2D: score=5 STRING: ENSP00000406965
    ENSG00000206403O958702, 3MINT-62776 MINT-62602 MINT-62700 I2D: score=5 
    ENSG00000224552O958702, 3MINT-62776 MINT-62602 MINT-62700 I2D: score=5 
    ENSG00000230475O958702, 3MINT-62776 MINT-62602 MINT-62700 I2D: score=5 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TMEM147 (TM147)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TMEM147 gene (3 alternative transcripts): 
    NM_001242597.1  NM_001242598.1  NM_032635.3  

    Unigene Cluster for TMEM147:

    Transmembrane protein 147
    Hs.9234  [show with all ESTs]
    Unigene Representative Sequence: BM918627
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000222284(uc002oaj.2 uc021usr.1) ENST00000593027 ENST00000392204(uc002oai.2)
    ENST00000477168 ENST00000595180 ENST00000596232 ENST00000595467 ENST00000599895
    ENST00000392205
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate TMEM147:
    hsa-miR-452
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TMEM147
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    GenScript: all cDNA clones in your preferred vector: TMEM147 (NM_032635)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM147
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM147
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TMEM147
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM147
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM147
      QuantiTect SYBR Green Assays in human, mouse, rat TMEM147
      QuantiFast Probe-based Assays in human, mouse, rat TMEM147

    Additional mRNA sequence: BC001118.2 

    8 DOTS entries:

    DT.448138  DT.75133827  DT.40107646  DT.448139  DT.91754633  DT.102825010  DT.95153333  DT.99953974 

    Selected AceView cDNA sequences (see all 257):

    CN485169 CR605779 BI856975 BM558115 BI092832 BM920017 BI756216 BG031961 
    BM811131 CR615520 BM781648 AI460262 BQ677686 CR603882 CB110801 BQ051653 
    BE390963 AA330926 BQ227670 BM818177 BU173446 BU190742 BU541032 BM998331 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TMEM147 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for TMEM147

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TMEM147 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTGCTGCCC
    TMEM147 Expression
    About this image


    TMEM147 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Kidney (Urinary System)
             Metanephros
    TMEM147 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM147 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.9234
        Custom PCR Arrays for TMEM147
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM147

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TMEM147 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem1471 , 5 transmembrane protein 1471, 5 90.92(n)1
    99.11(a)1
      7 (19.23 cM)5
    698041  NM_027215.21  NP_081491.21 
     307277015 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM1476
    transmembrane protein 147
    79(a)
    1 ↔ 1
    GL343281.1(102290-111615)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480153272   -- 78.07(n)    48015327 
    zebrafish
    (Danio rerio)
    Actinopterygii tmem1471 transmembrane protein 147 71.49(n)
    78.73(a)
      436757  NM_001002484.1  NP_001002484.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG58611 CG5861 59.97(n)
    50.47(a)
      34965  NM_135945.3  NP_609789.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK418.51 ZK418.5 47.51(n)
    42.52(a)
      175987  NM_066143.3  NP_498544.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G476401 AT1G47640 48.89(n)
    40(a)
      841173  NM_103657.5  NP_564509.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g07660001 Os03g0766000 52.21(n)
    40.56(a)
      4334226  NM_001057914.2  NP_001051379.2 


    ENSEMBL Gene Tree for TMEM147 (if available)
    TreeFam Gene Tree for TMEM147 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    1 SNPs for TMEM147    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs12692151,2,4
    ----see VAR_0514292 mis40--------

    HapMap Linkage Disequilibrium report for TMEM147 (36036497 - 36038429 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TMEM147:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911628CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM147
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM147

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613585    OMIM disorders: --


    Find genes that share disorders with TMEM147           About GenesLikeMe

    1 Novoseek inferred disease relationship for TMEM147 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystinosis 69.9 1 11150305 (1)


    Export disorders for TMEM147 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)
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    PubMed articles for TMEM147 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with TMEM147)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transmembrane protein 147 (TMEM147) is a novel component of the Nicalin-NOMO protein complex. (PubMed id 20538592)1, 2, 3 Dettmer U.... Haffner C. (J. Biol. Chem. 2010)
    2. 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. (Genome Res. 2004)
    3. Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. (PubMed id 23142642)1 Passantino R....Guarneri P. (Biochim. Biophys. Acta 2013)
    4. The identification of novel proteins that interact with the GLP-1 receptor and restrain its activity. (PubMed id 23864651)1 Huang X....Wheeler M.B. (Mol. Endocrinol. 2013)
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H.... Kim N.S. (Mamm. Genome 2005)
    8. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    9. Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region. (PubMed id 14667819)1 Lehner B....Sanderson C.M. (Genomics 2004)
    10. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10430 HGNC: 30414 AceView: NIFIE14 Ensembl:ENSG00000105677 euGenes: HUgn10430
    ECgene: TMEM147 H-InvDB: TMEM147

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TMEM147 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 TMEM147 gene:
    Search GeneIP for patents involving TMEM147

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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