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TMEM59L Gene

protein-coding   GIFtS: 44
GCID: GC19P018725

Transmembrane Protein 59-Like

(Previous name: chromosome 19 open reading frame 4)
(Previous symbol: C19orf4)
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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 59-Like1 2
C19orf41 2 3
Brain-Specific Membrane-Anchored Protein2 3
BSMAP2 3
Chromosome 19 Open Reading Frame 41

External Ids:    HGNC: 132371   Entrez Gene: 257892   Ensembl: ENSG000001056967   UniProtKB: Q9UK283   

Export aliases for TMEM59L gene to outside databases

Previous GC identifers: GC19P018585 GC19P018723 GC19P018286


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TMEM59L Gene:
This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of
the central nervous system. (provided by RefSeq, Jul 2008)

GeneCards Summary for TMEM59L Gene:
TMEM59L (transmembrane protein 59-like) is a protein-coding gene. An important paralog of this gene is TMEM59.

UniProtKB/Swiss-Prot: TM59L_HUMAN, Q9UK28
Function: Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of
APP. Inhibits APP transport to the cell surface and further shedding




(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  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM59L gene promoter:
         STAT1   Pax-5   STAT1beta   MyoD   AP-4   STAT1alpha   c-Ets-1   STAT3   Cart-1   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM59L promoter sequence
   Search Chromatin IP Primers for TMEM59L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM59L


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

Entrez Gene cytogenetic band: 19p12   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p12

TMEM59L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM59L gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P018725:  view genomic region     (about GC identifiers)

Start:
18,718,240 bp from pter      End:
18,731,849 bp from pter
Size:
13,610 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: TM59L_HUMAN, Q9UK28 (See protein sequence)
Recommended Name: Transmembrane protein 59-like precursor  
Size: 342 amino acids; 37619 Da

Explore the universe of human proteins at neXtProt for TMEM59L: NX_Q9UK28

Post-translational modifications: 

  • Glycosylation2 at Asn97
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins: NP_036241.1  
    ENSEMBL proteins: 
     ENSP00000470879   ENSP00000471612   ENSP00000262817  

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    (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:
     IPR022065 Uncharacterised_TMEM59

    Graphical View of Domain Structure for InterPro Entry Q9UK28

    ProtoNet protein and cluster: Q9UK28

    UniProtKB/Swiss-Prot: TM59L_HUMAN, Q9UK28
    Similarity: Belongs to the TMEM59 family


    Find genes that share domains with TMEM59L           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TM59L_HUMAN, Q9UK28
    Function: Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of
    APP. Inhibits APP transport to the cell surface and further shedding

    Phenotypes:
         2 GenomeRNAi human phenotypes for TMEM59L:

     Increased gamma-H2AX phosphory  Increased number of cells in m 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TMEM59L

    miRNA
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    hsa-miR-562 hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmidTMEM59L 3' UTR sequence
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    (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
    TM59L_HUMAN, Q9UK28: Golgi apparatus membrane; Single-pass type I membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    extracellular2
    plasma membrane2
    endoplasmic reticulum1
    lysosome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0016020membrane TAS10527841
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with TMEM59L           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 TMEM59L
    Interactions:

        Search GeneGlobe Interaction Network for TMEM59L

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TMEM59L (ENSP000002628174) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    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 TMEM59L (TM59L)



    (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 TMEM59L gene: 
    NM_012109.2  

    Unigene Cluster for TMEM59L:

    Transmembrane protein 59-like
    Hs.329850  [show with all ESTs]
    Unigene Representative Sequence: NM_012109
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000600490 ENST00000594859 ENST00000598660 ENST00000594709 ENST00000262817(uc010ebu.1 uc002njy.4)

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate TMEM59L:
    hsa-miR-562 hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmidTMEM59L 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TMEM59L
      QuantiFast Probe-based Assays in human, mouse, rat TMEM59L

    Additional mRNA sequence: 

    AF186264.1 AK309384.1 BC010446.1 

    15 DOTS entries:

    DT.446495  DT.121499217  DT.100811980  DT.92035184  DT.92432414  DT.100811975  DT.100811978  DT.100665520 
    DT.121499101  DT.100780609  DT.100811979  DT.92432418  DT.100683613  DT.95195307  DT.95237624 

    Selected AceView cDNA sequences (see all 206):

    NM_012109 CR618668 CR601081 AW162072 BQ639738 CR595310 CR594280 CR591469 
    CR595970 CR612265 CR614850 CR608463 Z38418 CR624040 AI815548 CR604903 
    CR618699 CR598539 CR614868 AF186264 AW160353 CR612781 BI598335 BI544925 

    GeneLoc Exon Structure


    (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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    TMEM59L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATATAAAAG
    TMEM59L Expression
    About this image


    TMEM59L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Cells Epiblast
             Epiblast-like cells
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced 4D20.8 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced 4D20.8 cells
     
     Adipose (Muscoskeletal System)
             HyStem+BMP4-induced 7SMOO32 cells
    TMEM59L Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.329850

    UniProtKB/Swiss-Prot: TM59L_HUMAN, Q9UK28
    Tissue specificity: Expressed preferentially at high level in the brain

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TMEM59L gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem59l1 , 5 transmembrane protein 59-like1, 5 77.96(n)1
    75.4(a)1
      8 (34.15 cM)5
    679371  NM_182991.21  NP_892036.11 
     704838765 
    chicken
    (Gallus gallus)
    Aves TMEM59L6
    transmembrane protein 59-like
    40(a)
    1 ↔ 1
    28(3643257-3650421)
    lizard
    (Anolis carolinensis)
    Reptilia TMEM59L6
    transmembrane protein 59-like
    79(a)
    1 ↔ 1
    AAWZ02040772(3858-3983)
    zebrafish
    (Danio rerio)
    Actinopterygii wufi68e122 Danio rerio cDNA clone MGC63977 IMAGE6792289, complete more 77.04(n)    BC054584.1 


    ENSEMBL Gene Tree for TMEM59L (if available)
    TreeFam Gene Tree for TMEM59L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM59L gene
    TMEM592  
    1 SIMAP similar gene for TMEM59L using alignment to 2 protein entries:     TM59L_HUMAN (see all proteins):
    TMEM59

    Find genes that share paralogs with TMEM59L           About GenesLikeMe



    (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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    Selected SNPs for TMEM59L (see all 263)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs711665341,2
    C--18292030(+) TTTTTT/-GAGAT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs72536771,2
    C,F,A,H--18721790(+) AACAGC/GAGGAG 1 -- us2k14Minor allele frequency- G:0.24NA 128
    rs1486227721,2
    --18721865(+) TAGTGC/TAGCGG 1 -- us2k10--------
    rs1420653601,2
    --18721905(+) TCTTTC/GCCTTC 1 -- us2k10--------
    rs1158602391,2
    F--18722454(+) AGCGGC/GCTAGC 1 -- us2k11Minor allele frequency- G:0.06WA 118
    rs1511304431,2
    --18722674(+) GCCCTC/GTAACC 1 -- us2k10--------
    rs769759811,2
    C,F--18722808(+) GCAGAG/TGATCC 1 -- us2k12Minor allele frequency- T:0.06NA EA 240
    rs1887182951,2
    --18723039(+) TAAGCA/CCCAGC 1 -- us2k10--------
    rs756359541,2
    F--18723177(+) TGCGCG/TCAAGT 1 -- us2k10--------
    rs1932215751,2
    --18723202(+) CCTGGG/TTGTCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TMEM59L (18718240 - 18731849 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for TMEM59L:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3785n71CNV Loss21882294
    nsv833776CNV Loss17160897
    dgv3784n71CNV Loss21882294
    nsv911282CNV Loss21882294
    nsv911288CNV Loss21882294
    nsv911281CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM59L
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM59L

    (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.)
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      --

    (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 TMEM59L gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM59L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BSMAP, a novel protein expressed specifically in the brain whose gene is localized on chromosome 19p12. (PubMed id 10527841)1, 2, 3 Elson G.C.A.... Gauchat J.-F. (Biochem. Biophys. Res. Commun. 1999)
    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. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    5. The novel membrane protein TMEM59 modulates complex glycosylation, cell surface expression, and secretion of the amyloid precursor protein. (PubMed id 20427278)2 Ullrich S....Lichtenthaler S.F. (J. Biol. Chem. 2010)
    6. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 25789 HGNC: 13237 AceView: C19orf4 Ensembl:ENSG00000105696 euGenes: HUgn25789
    ECgene: TMEM59L H-InvDB: TMEM59L

    (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 TMEM59L 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 TMEM59L gene:
    Search GeneIP for patents involving TMEM59L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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
    Advanced Cell Diagnostics, Animal models from genOway)
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     OriGene Antibodies for TMEM59L   OriGene RNAi products in human, mouse, rat for TMEM59L  
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     Block miRNA regulation of human, mouse, rat TMEM59L using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TMEM59L
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM59L Predesigned siRNA for gene silencing in human, mouse, rat TMEM59L
     QuantiFast Probe-based Assays in human, mouse, rat TMEM59L QuantiTect SYBR Green Assays in human, mouse, rat TMEM59L
     Custom PCR Arrays for TMEM59L Search Chromatin IP Primers for TMEM59L
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM59L  Search GeneGlobe Interaction Network for TMEM59L
     Regulatory tfbs in TMEM59L promoter
     GenScript Custom Purified and Recombinant Proteins Services for TMEM59L GenScript cDNA clones with any tag delivered in your preferred vector for TMEM59L
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     Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM59L
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM59L
     SwitchGear 3'UTR luciferase reporter plasmids for TMEM59L
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     Search Addgene for plasmids for TMEM59L
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