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

TMEM59L Gene

protein-coding   GIFtS: 41
GCID: GC19P018723

transmembrane protein 59-like

(Previous name: chromosome 19 open reading frame 4 )
(Previous symbol: C19orf4)
  Search for TMEM59L
in our new
 Human Malady Compendium 
Biological research products
for TMEM59L
    

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

Aliases
Transmembrane Protein 59-Like1 2
BSMAP1 2 3
C19orf41 2 3
Brain-Specific Membrane-Anchored Protein2 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 GC19P018286


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

Entrez Gene summary for TMEM59L:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TMEM59L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC19P018723:  view genomic region     (about GC identifiers)

Start:
18,723,682 bp from pter      End:
18,731,849 bp from pter
Size:
8,168 bases      Orientation:
plus 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: TM59L_HUMAN, Q9UK28 (See protein sequence)
Recommended Name: Transmembrane protein 59-like precursor  
Size: 342 amino acids; 37619 Da
Subcellular location: Golgi apparatus membrane; Single-pass type I membrane protein (Probable)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UK28

  • TMEM59L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036241.1  
    ENSEMBL proteins: 
     ENSP00000262817  

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    Uscn Proteins for TMEM59L

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005624membrane fraction ----
    GO:0016020membrane TAS10527841
    GO:0016021integral to membrane IEA--


    TMEM59L for ontologies           About GeneDecksing



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

    TMEM59L for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    (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: 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

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM59L

    2 GenomeRNAi human phenotypes for TMEM59L:
     Increased gamma-H2AX phosphory  Increased number of cells in m 


    (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 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 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 TMEM59L
    Search CenterWatch for drugs/clinical trials and news about TMEM59L / TM59L 

    (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,
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    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 TMEM59L gene: 
    NM_012109.2  

    Unigene Cluster for TMEM59L:

    Transmembrane protein 59-like
    Hs.329850  [show with all ESTs]
    Unigene Representative Sequence: NM_012109
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000262817(uc010ebu.1 uc002njy.4)

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    Inhib. RNA
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    Additional cDNA 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 

    24/206 AceView cDNA sequences (see all 206):

    AW162072 CR595970 CR604903 NM_012109 CR614868 CR618699 CR614850 AW160353 
    CR618668 BQ639738 CR624040 AF186264 CR598539 CR612781 AI815548 CR595310 
    CR608463 CR612265 CR594280 CR601081 Z38418 CR591469 BI915201 AW592816 

    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™, 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

    TMEM59L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATATAAAAG

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

    About this image

    TMEM59L expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    Epiblast-like cells (Reconstitution of mo...)
    HyStem+TGF?3+GDF5-induced 7SMOO32 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+BMP4-induced 7SMOO32 cells (HyStem+BMP4 inductio...)Adipose

    See TMEM59L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM59L

    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
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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 chordates.

    Orthologs for TMEM59L gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem59l1 , 5 transmembrane protein 59-like1, 5 77.25(n)1
    74.85(a)1
      8 (34.15 cM)5
    679371  NM_182991.21  NP_892036.11 
     704838765 
    chicken
    (Gallus gallus)
    Aves TMEM59L1 transmembrane protein 59-like 61.05(n)
    49.43(a)
      420122  XM_418240.3  XP_418240.3 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM59L6
    --
    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)
    About This Section
    Paralogs for TMEM59L gene
    TMEM592  
    1 SIMAP similar gene for TMEM59L using alignment to 2 protein entries:     TM59L_HUMAN (see all proteins):
    TMEM59

    TMEM59L 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

    10/215 NCBI SNPs in TMEM59L are shown (see all 215    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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
    F,--18722808(+) GCAGAG/TGATCC 1 -- us2k12Minor allele frequency- T:0.06NA EA 240
    rs1887182951,2
    --18723039(+) TAAGCA/CCCAGC 1 -- us2k10--------
    rs756359541,2
    --18723177(+) TGCGCG/TCAAGT 1 -- us2k10--------
    rs1932215751,2
    --18723202(+) CCTGGG/TTGTCA 1 -- us2k10--------
    rs1130163351,2
    C,--18723303(+) CTCCCT/ACCTCC 1 -- us2k11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for TMEM59L (18723682 - 18731849 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TMEM59L: --

    SABiosciences Cancer Mutation PCR Assays
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    (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
      --

    (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 TMEM59L gene integrated from 9 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. (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. (2004)
    3. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    4. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (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. (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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 25789 HGNC: 13237 AceView: C19orf4 Ensembl:ENSG00000105696 euGenes: HUgn25789
    ECgene: TMEM59L H-InvDB: TMEM59L

    (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 TMEM59L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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