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

UNC50 Gene

protein-coding   GIFtS: 46
GCID: GC02P099225

Unc-50 Homolog (C. Elegans)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Unc-50 Homolog (C. Elegans)1 2     hGMH12 3
Periodontal Ligament-Specific Protein 222 3     GMH12
Protein GMH1 Homolog2 3     URP2
Uncoordinated-Like Protein2 3     Geal-6 Membrane-Associated High-Copy Suppressor 12
PDLs222 3     Protein Unc-50 Homolog2
UNCL2 3     Unc-50 Related2

External Ids:    HGNC: 160461   Entrez Gene: 259722   Ensembl: ENSG000001154467   UniProtKB: Q53HI13   

Export aliases for UNC50 gene to outside databases

Previous GC identifers: GC02P098846 GC02P098683 GC02P098591 GC02P092989


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

GeneCards Summary for UNC50 Gene: 
UNC50 (unc-50 homolog (C. elegans)) is a protein-coding gene. Diseases associated with UNC50 include periodontitis, and neuronitis. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot: UNC50_HUMAN, Q53HI1
Function: May be involved in cell surface expression of neuronal nicotinic receptors. Binds RNA (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022171.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UNC50 gene promoter:
         HFH-3   AML1a   CUTL1   C/EBPalpha   FOXI1   HFH-1   HSF2   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUNC50 promoter sequence
   Search SABiosciences Chromatin IP Primers for UNC50

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UNC50


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

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

UNC50 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UNC50 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P099225:  view genomic region     (about GC identifiers)

Start:
99,225,042 bp from pter      End:
99,234,978 bp from pter
Size:
9,937 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UNC50_HUMAN, Q53HI1 (See protein sequence)
Recommended Name: Protein unc-50 homolog  
Size: 259 amino acids; 30373 Da
Subcellular location: Nucleus inner membrane; Multi-pass membrane protein (By similarity). Golgi apparatus
membrane; Multi-pass membrane protein
Secondary accessions: D3DVH4 Q53S98 Q53TD6 Q5U5U2 Q6X7B9 Q9UQF4 Q9Y4S6

Explore the universe of human proteins at neXtProt for UNC50: NX_Q53HI1

Explore proteomics data for UNC50 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q53HI1

  • UNC50 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UNC50 Protein Expression
    REFSEQ proteins: NP_054763.2  
    ENSEMBL proteins: 
     ENSP00000350409   ENSP00000387146   ENSP00000386466   ENSP00000377131   ENSP00000412224  

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    Browse Proteins at Cloud-Clone Corp. 

    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:0005637nuclear inner membrane IEA--
    GO:0005794Golgi apparatus ----
    GO:0016021integral to membrane IEA--

    UNC50 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007881 UNC-50

    Graphical View of Domain Structure for InterPro Entry Q53HI1

    ProtoNet protein and cluster: Q53HI1

    UniProtKB/Swiss-Prot: UNC50_HUMAN, Q53HI1
    Similarity: Belongs to the unc-50 family


    UNC50 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UNC50_HUMAN, Q53HI1
    Function: May be involved in cell surface expression of neuronal nicotinic receptors. Binds RNA (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
         
    UNC50 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UNC50

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/21 Interacting proteins for UNC50 (Q53HI12, 3 ENSP000003504094) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARFRP1Q137953I2D: score=5 
    FNBP1LQ5T0N53I2D: score=5 
    RAB11BQ159073I2D: score=5 
    SH3YL1Q96HL83I2D: score=5 
    GBF1Q925383I2D: score=2 
    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:0007166cell surface receptor signaling pathway IEA--
    GO:0015031protein transport IEA--

    UNC50 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 UNC50

    Search CenterWatch for drugs/clinical trials and news about UNC50

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for UNC50 gene: 
    NM_014044.5  

    Unigene Cluster for UNC50:

    Unc-50 homolog (C. elegans)
    Hs.13370  [show with all ESTs]
    Unigene Representative Sequence: BC039078
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357765(uc002szc.4) ENST00000409975(uc002szb.3) ENST00000409347(uc010yvl.2)
    ENST00000393493 ENST00000423713 ENST00000466492
    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate UNC50:
    hsa-miR-206 hsa-miR-1 hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidUNC50 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF077038.1 AK222599.1 AL080115.1 AY017215.1 AY251534.1 BC017019.1 BC025992.2 BC039078.1 
    BC091481.1 CR533464.1 

    14 DOTS entries:

    DT.95275339  DT.101959823  DT.97845731  DT.417379  DT.100026828  DT.100648116  DT.205425  DT.120936114 
    DT.91720581  DT.120936099  DT.95275336  DT.120936053  DT.120936089  DT.95275337 

    24/203 AceView cDNA sequences (see all 203):

    BC025992 D62053 BI789153 BI822850 AA102090 BU784701 AA868005 AW079830 
    BI962630 BI830201 Z43792 BM353461 BM831972 BQ447402 AI873020 BM127619 
    BM982656 BM781701 BU176803 R39324 AA804207 AA731671 NM_014044 BU187757 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for UNC50 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for UNC50

    (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

    UNC50 expression in normal human tissues (normalized intensities)      UNC50 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATCCTGAC
    UNC50 Expression
    About this image


    UNC50 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             oocyte   
     
     Breast (Uncategorized)
             breast epithelium   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Epithelium
             breast epithelium   

    See UNC50 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UNC50

    SOURCE GeneReport for Unigene cluster: Hs.13370

    UniProtKB/Swiss-Prot: UNC50_HUMAN, Q53HI1
    Tissue specificity: Present in periodontal ligament fibroblasts (at protein level)

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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 UNC50 gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Unc501 , 5 unc-50 homolog (C. elegans)1, 5 86.62(n)1
    95.75(a)1
      1 (15.46 cM)5
    673871  NM_026123.31  NP_080399.11 
     374301705 
    chicken
    (Gallus gallus)
    Aves UNC501 unc-50 homolog (C. elegans) 77.86(n)
    86.1(a)
      418691  XM_416887.3  XP_416887.1 
    lizard
    (Anolis carolinensis)
    Reptilia UNC506
    Uncharacterized protein
    84(a)
    1 ↔ 1
    3(109132113-109152489)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.321712 Xenopus laevis transcribed sequence with moderate similarity more 78.45(n)    CB564811.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc561142 hypothetical protein MGC56114 75.97(n)   393217  BC047831.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG97731 CG9773 58.19(n)
    56.9(a)
      41029  NM_141556.4  NP_649813.1 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-501 Protein UNC-50 55.08(n)
    50(a)
      176443  NM_066878.2  NP_499279.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GMH1(YKR030W)4
    GMH11
    Golgi membrane protein of unknown function, interacts more4
    Gmh1p1
    48.4(n)1
    38.8(a)1
      11(500282-501103)4
    8539011, 4  NP_012955.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G152401 UNC-50-like protein 49.62(n)
    39.37(a)
      816013  NM_127085.4  NP_565370.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g01095001 hypothetical protein 50.76(n)
    42.27(a)
      4346386  NM_001069101.1  NP_001062566.1 


    ENSEMBL Gene Tree for UNC50 (if available)
    TreeFam Gene Tree for UNC50 (if available)

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

    (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) 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

    10/189 SNPs in UNC50 are shown (see all 189)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs170342691,2
    C,F,H--99227126(+) TTTTGT/CTTAAA 1 -- int16Minor allele frequency- C:0.02NA EA NS WA 418
    rs1434289901,2
    C--99227134(+) AAAGAC/TCTGTC 1 -- int10--------
    rs1996399791,2
    --99227236(+) CTTTCA/GGTGTC 1 -- spa10--------
    rs1138992141,2
    F--99227279(+) GATTCG/TTTGAG 2 V F mis12Minor allele frequency- T:0.50CSA 6
    rs1808086181,2
    C--99227330(+) TAGGCA/GTTGGT 2 I V mis10--------
    rs1848686041,2
    --99227424(+) GAGGTA/GCAATA 1 -- int10--------
    rs1468130311,2
    --99227599(+) TTGAAC/TCCAAA 1 -- int10--------
    rs1892389101,2
    --99227616(+) GAGATC/TGGTCT 1 -- int10--------
    rs1406293751,2
    --99227651(+) AAGTTA/GAGGAC 1 -- int10--------
    rs1441908741,2
    --99227669(+) TGACAC/TAGCCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for UNC50 (99225042 - 99234978 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for UNC50:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2585417CNV Deletion19546169

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing UNC50
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for UNC50:    About MalaCards
    periodontitis    neuronitis


    UNC50 for disorders           About GeneDecksing


    Export disorders for UNC50 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 UNC50 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with UNC50)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. UNCL, the mammalian homologue of UNC-50, is an inner nuclear membrane RNA-binding protein. (PubMed id 10980252)1, 2, 3 Fitzgerald J.... Forsayeth J.R. (2000)
    2. Expression of UNCL during development of periodontal tissue and response of periodontal ligament fibroblasts to mechanical stress in vivo and in vitro. (PubMed id 17004066)1, 2 Kim H.-J.... Park J.-C. (2007)
    3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. 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)
    7. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. A novel Golgi membrane protein is a partner of the ARF exchange factors Gea1p and Gea2p. (PubMed id 12808035)2 Chantalat S.... Peyroche A. (2003)
    10. 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)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 25972 HGNC: 16046 AceView: UNC50 Ensembl:ENSG00000115446 euGenes: HUgn25972
    ECgene: UNC50 H-InvDB: UNC50

    (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 UNC50 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 UNC50 gene:
    Search GeneIP for patents involving UNC50

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