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C5orf30 Gene

protein-coding   GIFtS: 45
GCID: GC05P102623

Chromosome 5 Open Reading Frame 30

  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)
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Aliases
Chromosome 5 Open Reading Frame 301 2
UNC119-Binding Protein C5orf302
UPF0684 Protein C5orf302

External Ids:    HGNC: 250521   Entrez Gene: 903552   Ensembl: ENSG000001817517   UniProtKB: Q96GV93   

Export aliases for C5orf30 gene to outside databases

Previous GC identifer: GC05P097775


(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 C5orf30 Gene:
C5orf30 (chromosome 5 open reading frame 30) is a protein-coding gene. Diseases associated with C5orf30 include rheumatoid arthritis, and arthritis.

UniProtKB/Swiss-Prot: CE030_HUMAN, Q96GV9
Function: Probably plays a role in trafficking of proteins via its interaction with UNC119 and UNC119B cargo
adapters: may help the release of UNC119 and UNC119B cargo or the recycling of UNC119 and UNC119B. May play a
role in ciliary membrane localization via its interaction with UNC119B and protein transport into photoreceptor
cells




(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:
NC_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C5orf30 gene promoter:
         C/EBPbeta   Pax-5   POU3F1   E4BP4   GATA-1   AREB6   COMP1   SEF-1 (1)   Sox9   STAT3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C5orf30

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C5orf30


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

Entrez Gene cytogenetic band: 5q21.1   Ensembl cytogenetic band:  5q21.1   HGNC cytogenetic band: 5q21.1

C5orf30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf30 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P102623:  view genomic region     (about GC identifiers)

Start:
102,594,403 bp from pter      End:
102,614,361 bp from pter
Size:
19,959 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CE030_HUMAN, Q96GV9 (See protein sequence)
Recommended Name: UNC119-binding protein C5orf30  
Size: 206 amino acids; 23083 Da
Subunit: Interacts with UNC119 and UNC119B; interaction preferentially takes place when UNC119 and UNC119B are
unliganded with myristoylated proteins

Explore the universe of human proteins at neXtProt for C5orf30: NX_Q96GV9

Explore proteomics data for C5orf30 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C5orf30 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_149988.1  
    ENSEMBL proteins: 
     ENSP00000326110   ENSP00000422836   ENSP00000421270  

    C5orf30 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for C5orf30

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    C5orf30 Assay Products:

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    Cloud-Clone Corp. ELISAs for C5orf30
    Cloud-Clone Corp. CLIAs for C5orf30


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q96GV9

    UniProtKB/Swiss-Prot: CE030_HUMAN, Q96GV9
    Similarity: Belongs to the UNC119-binding protein family


    (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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CE030_HUMAN, Q96GV9
    Function: Probably plays a role in trafficking of proteins via its interaction with UNC119 and UNC119B cargo
    adapters: may help the release of UNC119 and UNC119B cargo or the recycling of UNC119 and UNC119B. May play a
    role in ciliary membrane localization via its interaction with UNC119B and protein transport into photoreceptor
    cells

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    C5orf30 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C5orf30:
     Synthetic lethal with Ras 

         1 MGI phenotypic allele for D1Ertd622e (no phenotypes)

    C5orf30 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out D1Ertd622etm1(KOMP)Vlcg for C5orf30

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C5orf30
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C5orf30
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C5orf30

    miRNA
    Products:
        
    miRTarBase miRNAs that target C5orf30:
    hsa-mir-215-5p (MIRT024398), hsa-mir-192-5p (MIRT026965), hsa-mir-98-5p (MIRT027835)

    Block miRNA regulation of human, mouse, rat C5orf30 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C5orf30 (see all 43):
    hsa-miR-1245 hsa-miR-25 hsa-miR-578 hsa-miR-301a hsa-miR-138-2* hsa-miR-1273d hsa-miR-9 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidC5orf30 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat C5orf30

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: C5orf30 (NM_033211)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C5orf30
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C5orf30

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf30


    (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
    CE030_HUMAN, Q96GV9: Cytoplasm. Cell projection, cilium. Note=Localizes to the transition zone and proximal
    cilium in addition to being found throughout the cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0035869ciliary transition zone IDA--

    C5orf30 for ontologies           About GeneDecksing


    (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 C5orf30
    Interactions:

        Search GeneGlobe Interaction Network for C5orf30

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for C5orf30 (Q96GV93 ENSP000003261104) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDFIQ997503, ENSP000002303214I2D: score=1 STRING: ENSP00000230321
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    MAPK7ENSP000003110054STRING: ENSP00000311005
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0060271cilium morphogenesis ISS--

    C5orf30 for ontologies           About GeneDecksing



    (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 C5orf30 (CE030)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C5orf30 gene: 
    NM_033211.2  

    Unigene Cluster for C5orf30:

    Chromosome 5 open reading frame 30
    Hs.482976  [show with all ESTs]
    Unigene Representative Sequence: BC009203
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000319933(uc003kog.1) ENST00000515669 ENST00000510890(uc003koh.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat C5orf30 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C5orf30 (see all 43):
    hsa-miR-1245 hsa-miR-25 hsa-miR-578 hsa-miR-301a hsa-miR-138-2* hsa-miR-1273d hsa-miR-9 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidC5orf30 3' UTR sequence
    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for C5orf30
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      QuantiTect SYBR Green Assays in human, mouse, rat C5orf30
      QuantiFast Probe-based Assays in human, mouse, rat C5orf30

    Additional mRNA sequence: 

    AF038182.1 AK058020.1 AK090558.1 BC009203.2 

    7 DOTS entries:

    DT.114704  DT.97773987  DT.100748465  DT.102826588  DT.100763124  DT.120872148  DT.86847065 

    Selected AceView cDNA sequences (see all 133):

    BQ276513 AA625540 BM905209 CA438254 BC009203 BU161286 C00535 BU624338 
    BU071033 BF477785 AW297097 C00247 AL565741 CR623577 BP342453 AI659003 
    BF223248 AW069649 AI783689 CR619198 AK058020 BM310134 AF038182 BU155603 

    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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    C5orf30 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCATCAGGTC
    C5orf30 Expression
    About this image

    C5orf30 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C5orf30 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.482976
        Custom PCR Arrays for C5orf30
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf30

    (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 C5orf30 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia D1Ertd622e1 , 5 DNA segment, Chr 1, ERATO Doi 622, expressed1, 5 89.16(n)1
    94.66(a)1
      1 (47.76 cM)5
    523921  NM_133825.31  NP_598586.11 
     976439035 
    chicken
    (Gallus gallus)
    Aves C5ORF301 chromosome Z open reading frame, human C5orf30 79.61(n)
    89.32(a)
      768501  XM_003643054.2  XP_003643102.1 
    lizard
    (Anolis carolinensis)
    Reptilia C5orf306
    chromosome 5 open reading frame 30
    86(a)
    1 ↔ 1
    GL343193.1(1827807-1828433)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.202702 Xenopus laevis transcribed sequence with moderate similarity more 77.23(n)    BU916660.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1942811 zgc:194281 68.3(n)
    72.55(a)
      570279  NM_001128757.1  NP_001122229.1 


    ENSEMBL Gene Tree for C5orf30 (if available)
    TreeFam Gene Tree for C5orf30 (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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    Selected SNPs for C5orf30 (see all 433)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1837678681,2
    --102592667(+) AGCCAC/TGGCAC 1 -- us2k10--------
    rs1155229861,2
    C,F--102592695(+) TCCGAG/ATGAAG 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs1488963731,2
    --102592767(+) GCTATC/TATCAA 1 -- us2k10--------
    rs1434550061,2
    --102592783(+) ACTGCA/GTGGTG 1 -- us2k10--------
    rs1479708711,2
    --102592820(+) ACACTC/GAAGAA 1 -- us2k10--------
    rs1882445951,2
    --102593081(+) ATATAA/CAATAT 1 -- us2k10--------
    rs1163924881,2
    F--102593083(+) ATAAAA/GTATAC 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs763953251,2
    C,F--102593196(+) ACTGAT/GGCAAA 1 -- us2k13Minor allele frequency- G:0.13CSA WA NA 239
    rs1417060651,2
    --102593248(+) CTTCTA/GTATTT 1 -- us2k10--------
    rs1458599701,2
    --102593268(+) CATGCA/GAATCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C5orf30 (102594403 - 102614361 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for C5orf30:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507280CNV Insertion20534489
    nsv4936CNV Insertion18451855
    nsv882519CNV Loss21882294
    nsv882522CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C5orf30
    DNA2.0 Custom Variant and Variant Library Synthesis for C5orf30

    (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.)
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    2 diseases for C5orf30:    
    About MalaCards
    rheumatoid arthritis    arthritis


    C5orf30 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C5orf30
    Human Genome Epidemiology (HuGE) Navigator: C5orf30 (1 document)

    Export disorders for C5orf30 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 C5orf30 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with C5orf30)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. (PubMed id 22085962)1, 2, 3 Wright K.J.... Jackson P.K. (Genes Dev. 2011)
    2. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PubMed id 20453842)1, 4 Stahl E.A....Plenge R.M. (Nat. Genet. 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Allele-dose association of the C5orf30 rs26232 variant with joint damage in rheumatoid arthritis. (PubMed id 23817893)1 Teare M.D....Wilson A.G. (Arthritis Rheum. 2013)
    5. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    6. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    9. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    10. An empirical framework for binary interactome mapping. (PubMed id 19060904)1 Venkatesan K....Vidal M. (Nat. Methods 2009)

    (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: 90355 HGNC: 25052 AceView: LOC90355 Ensembl:ENSG00000181751 euGenes: HUgn90355
    ECgene: C5orf30 H-InvDB: C5orf30

    (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 C5orf30 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 C5orf30 gene:
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