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Aliases for UNC50 Gene

Aliases for UNC50 Gene

  • Unc-50 Inner Nuclear Membrane RNA Binding Protein 2 3 5
  • Periodontal Ligament-Specific Protein 22 3 4
  • Uncoordinated-Like Protein 3 4
  • Protein GMH1 Homolog 3 4
  • PDLs22 3 4
  • UNCL 3 4
  • Geal-6 Membrane-Associated High-Copy Suppressor 1 3
  • Unc-50 Homolog (C. Elegans) 2
  • Protein Unc-50 Homolog 3
  • Unc-50-Like Protein 3
  • Unc-50 Related 3
  • HSD23 3
  • HGMH1 4
  • GMH1 3
  • URP 3

External Ids for UNC50 Gene

Previous GeneCards Identifiers for UNC50 Gene

  • GC02P098846
  • GC02P098683
  • GC02P099225
  • GC02P092989

Summaries for UNC50 Gene

GeneCards Summary for UNC50 Gene

UNC50 (Unc-50 Inner Nuclear Membrane RNA Binding Protein) is a Protein Coding gene. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot for UNC50 Gene

  • May be involved in cell surface expression of neuronal nicotinic receptors. Binds RNA (By similarity).

Additional gene information for UNC50 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UNC50 Gene

Genomics for UNC50 Gene

Regulatory Elements for UNC50 Gene

Enhancers for UNC50 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H098908 1.7 FANTOM5 Ensembl ENCODE dbSUPER 37.1 +300.8 300767 2 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 ZNF202 MXD4 NFYC REST LOC550644 REV1 ENSG00000273306 UNC50 MITD1 LIPT1 TMEM131 KIAA1211L RNU7-46P
GH02H099179 1.2 ENCODE 35 +573.0 572958 3 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 TSGA10 MITD1 UNC50 REV1 LIPT1 ENSG00000273306 LOC550644 ENSG00000241962 LYG1 MRPL30
GH02H097712 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.9 -892.4 -892354 7 PKNOX1 ATF1 TCF12 ZNF766 CAVIN1 ZNF592 KAT8 MEF2D MIER3 SMARCA4 ZAP70 ANKRD36B LMAN2L UNC50 ACTR1B ANKRD36 CNNM3 SEMA4C TMEM131 FAHD2B
GH02H097660 1.4 ENCODE dbSUPER 18.3 -945.8 -945786 4 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 SLC30A9 ZNF766 ANKRD36B TMEM131 ZAP70 UNC50 CNNM3 LOC100506123 C2orf92 ACTR1B PIR38581
GH02H097992 1.4 ENCODE dbSUPER 15.9 -613.6 -613630 4 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B ANKRD36B UNC50 TMEM131 ANKRD36 ZAP70 ACTR1B C2orf92 RNU7-96P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UNC50 on UCSC Golden Path with GeneCards custom track

Promoters for UNC50 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000120489 21 2001 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207 SP3

Genomic Location for UNC50 Gene

Chromosome:
2
Start:
98,608,579 bp from pter
End:
98,618,515 bp from pter
Size:
9,937 bases
Orientation:
Plus strand

Genomic View for UNC50 Gene

Genes around UNC50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UNC50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UNC50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UNC50 Gene

Proteins for UNC50 Gene

  • Protein details for UNC50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53HI1-UNC50_HUMAN
    Recommended name:
    Protein unc-50 homolog
    Protein Accession:
    Q53HI1
    Secondary Accessions:
    • D3DVH4
    • Q53S98
    • Q53TD6
    • Q5U5U2
    • Q6X7B9
    • Q9UQF4
    • Q9Y4S6

    Protein attributes for UNC50 Gene

    Size:
    259 amino acids
    Molecular mass:
    30373 Da
    Quaternary structure:
    No Data Available

neXtProt entry for UNC50 Gene

Post-translational modifications for UNC50 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UNC50 Gene

Domains & Families for UNC50 Gene

Gene Families for UNC50 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for UNC50 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UNC50 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53HI1

UniProtKB/Swiss-Prot:

UNC50_HUMAN :
  • Belongs to the unc-50 family.
Family:
  • Belongs to the unc-50 family.
genes like me logo Genes that share domains with UNC50: view

Function for UNC50 Gene

Molecular function for UNC50 Gene

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

Phenotypes From GWAS Catalog for UNC50 Gene

Gene Ontology (GO) - Molecular Function for UNC50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with UNC50: view

Phenotypes for UNC50 Gene

GenomeRNAi human phenotypes for UNC50:
genes like me logo Genes that share phenotypes with UNC50: view

Animal Model Products

CRISPR Products

miRNA for UNC50 Gene

miRTarBase miRNAs that target UNC50

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UNC50
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UNC50 Gene

Localization for UNC50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UNC50 Gene

Nucleus inner membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UNC50 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 3
nucleus 3
mitochondrion 1
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for UNC50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with UNC50: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UNC50 Gene

Pathways & Interactions for UNC50 Gene

SuperPathways for UNC50 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UNC50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IBA --
GO:0007166 cell surface receptor signaling pathway IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with UNC50: view

No data available for Pathways by source and SIGNOR curated interactions for UNC50 Gene

Drugs & Compounds for UNC50 Gene

No Compound Related Data Available

Transcripts for UNC50 Gene

Unigene Clusters for UNC50 Gene

Unc-50 homolog (C. elegans):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UNC50
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for UNC50 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - - - - -
SP2: - -
SP3: - - -
SP4: - -
SP5:
SP6:

Relevant External Links for UNC50 Gene

GeneLoc Exon Structure for
UNC50
ECgene alternative splicing isoforms for
UNC50

Expression for UNC50 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UNC50 Gene

Protein differential expression in normal tissues from HIPED for UNC50 Gene

This gene is overexpressed in Pancreas (49.8) and Testis (16.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UNC50 Gene



Protein tissue co-expression partners for UNC50 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UNC50 Gene:

UNC50

SOURCE GeneReport for Unigene cluster for UNC50 Gene:

Hs.13370

mRNA Expression by UniProt/SwissProt for UNC50 Gene:

Q53HI1-UNC50_HUMAN
Tissue specificity: Present in periodontal ligament fibroblasts (at protein level).

Evidence on tissue expression from TISSUES for UNC50 Gene

  • Nervous system(4.5)
  • Lung(4.3)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with UNC50: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UNC50 Gene

Orthologs for UNC50 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UNC50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UNC50 33 34
  • 99.87 (n)
dog
(Canis familiaris)
Mammalia UNC50 33
  • 92.28 (n)
cow
(Bos Taurus)
Mammalia UNC50 33 34
  • 89.32 (n)
rat
(Rattus norvegicus)
Mammalia Unc50 33
  • 87.39 (n)
mouse
(Mus musculus)
Mammalia Unc50 33 16 34
  • 86.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UNC50 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UNC50 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves UNC50 33 34
  • 77.86 (n)
lizard
(Anolis carolinensis)
Reptilia UNC50 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia unc50 33
  • 76.71 (n)
Str.16401 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32171 33
zebrafish
(Danio rerio)
Actinopterygii unc50 33 34
  • 73.02 (n)
zgc56114 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10827 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002901 33
  • 58.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9773 33 34
  • 56.73 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-50 33 34
  • 53.78 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GMH1 33 34 36
  • 48.4 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F21230g 33
  • 47.18 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR073C 33
  • 46.88 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G15240 33
  • 49.64 (n)
rice
(Oryza sativa)
Liliopsida Os09g0109500 33
  • 49.72 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5619 34
  • 53 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mug16 33
  • 52.78 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.650 33
Species where no ortholog for UNC50 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UNC50 Gene

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

Paralogs for UNC50 Gene

No data available for Paralogs for UNC50 Gene

Variants for UNC50 Gene

Sequence variations from dbSNP and Humsavar for UNC50 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1001333967 -- 98,609,550(+) CTGTT(C/G)CCCTT intron-variant, upstream-variant-2KB
rs1001531752 -- 98,615,124(+) GATGC(A/G)TCACT intron-variant
rs1001707368 -- 98,611,435(+) GCAGG(G/T)ACAGG intron-variant
rs1002355503 -- 98,615,711(+) TAAGT(C/G)AAATA intron-variant
rs1002356064 -- 98,608,993(+) TGTCT(G/T)AAATC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for UNC50 Gene

Variant ID Type Subtype PubMed ID
esv2585417 CNV deletion 19546169

Variation tolerance for UNC50 Gene

Residual Variation Intolerance Score: 36.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.44; 77.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UNC50 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UNC50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UNC50 Gene

Disorders for UNC50 Gene

Relevant External Links for UNC50

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UNC50

No disorders were found for UNC50 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UNC50 Gene

Publications for UNC50 Gene

  1. UNCL, the mammalian homologue of UNC-50, is an inner nuclear membrane RNA-binding protein. (PMID: 10980252) Fitzgerald J … Forsayeth JR (Brain research 2000) 2 3 4 60
  2. Expression of UNCL during development of periodontal tissue and response of periodontal ligament fibroblasts to mechanical stress in vivo and in vitro. (PMID: 17004066) Kim HJ … Park JC (Cell and tissue research 2007) 3 4 60
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 60
  4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4 60
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 60

Products for UNC50 Gene

Sources for UNC50 Gene

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