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

C3orf58 Gene

protein-coding   GIFtS: 46
GCID: GC03P143690

Chromosome 3 Open Reading Frame 58

  Search for C3orf58
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
Chromosome 3 Open Reading Frame 581 2     Deleted In Autism Protein 12
DIA12 3 5     Golgi Protein GoPro492
Deleted In Autism 11 2     UPF0672 Protein C3orf582
HASF2     

External Ids:    HGNC: 284901   Entrez Gene: 2054282   Ensembl: ENSG000001817447   OMIM: 6122005   UniProtKB: Q8NDZ43   

Export aliases for C3orf58 gene to outside databases

Previous GC identifers: GC03P145174 GC03P141062


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

GeneCards Summary for C3orf58 Gene: 
C3orf58 (chromosome 3 open reading frame 58) is a protein-coding gene. An important paralog of this gene is CXorf36.


(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_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C3orf58 gene promoter:
         CREB   CHOP-10   LHX3b/Lhx3b   deltaCREB   LHX3a/Lhx3a   C/EBPalpha   E47   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C3orf58

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C3orf58


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

Entrez Gene cytogenetic band: 3q24   Ensembl cytogenetic band:  3q24   HGNC cytogenetic band: 3q24

C3orf58 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C3orf58 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P143690:  view genomic region     (about GC identifiers)

Start:
143,690,640 bp from pter      End:
143,767,561 bp from pter
Size:
76,922 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: DIA1_HUMAN, Q8NDZ4 (See protein sequence)
Recommended Name: Deleted in autism protein 1 precursor  
Size: 430 amino acids; 49482 Da
Subcellular location: Secreted (Potential)
Secondary accessions: B2RCF2 B7Z1W3
Alternative splicing: 2 isoforms:  Q8NDZ4-1   Q8NDZ4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C3orf58: NX_Q8NDZ4

Explore proteomics data for C3orf58 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NDZ4

  • C3orf58 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C3orf58 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001127942.1  NP_775823.1  

    ENSEMBL proteins: 
     ENSP00000320081   ENSP00000417382   ENSP00000419947   ENSP00000390796  

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IDA18651652
    GO:0005576extracellular region ----
    GO:0005615extracellular space IDA--
    GO:0030126COPI vesicle coat IDA18651652
    GO:0030137COPI-coated vesicle ----

    C3orf58 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:
     IPR020519 UPF0672

    Graphical View of Domain Structure for InterPro Entry Q8NDZ4

    ProtoNet protein and cluster: Q8NDZ4

    UniProtKB/Swiss-Prot: DIA1_HUMAN, Q8NDZ4
    Similarity: Belongs to the DIA1 family


    C3orf58 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

    Phenotypes:
         1 GenomeRNAi human phenotype for C3orf58:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C3orf58 
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    miRTarBase miRNAs that target C3orf58:
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    hsa-miR-142-5p hsa-miR-30c hsa-miR-137 hsa-miR-148b hsa-miR-575 hsa-miR-30d hsa-miR-340 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidC3orf58 3' UTR sequence
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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 C3orf58

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/41 Interacting proteins for C3orf58 (ENSP000003200814) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AFTPHENSP000002388554STRING: ENSP00000238855
    AP1G2ENSP000003124424STRING: ENSP00000312442
    AP1S1ENSP000003366664STRING: ENSP00000336666
    AP2A1ENSP000003519264STRING: ENSP00000351926
    AP2A2ENSP000004132344STRING: ENSP00000413234
    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:0014066regulation of phosphatidylinositol 3-kinase cascade IDA--
    GO:0060038cardiac muscle cell proliferation IDA--

    C3orf58 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 C3orf58 (DIA1)

    Search CenterWatch for drugs/clinical trials and news about C3orf58 / DIA1

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C3orf58 gene (2 alternative transcripts): 
    NM_001134470.1  NM_173552.3  

    Unigene Cluster for C3orf58:

    Chromosome 3 open reading frame 58
    Hs.288954  [show with all ESTs]
    Unigene Representative Sequence: NM_173552
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000315691(uc003evo.3) ENST00000493396 ENST00000491798 ENST00000483808
    ENST00000495414 ENST00000492452 ENST00000441925(uc011bnl.2)
    miRNA
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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate C3orf58 (see all 28):
    hsa-miR-142-5p hsa-miR-30c hsa-miR-137 hsa-miR-148b hsa-miR-575 hsa-miR-30d hsa-miR-340 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidC3orf58 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK025119.1 AK095063.1 AK095161.1 AK095400.1 AK294020.1 AK315082.1 AL832839.1 BC037293.2 

    6 DOTS entries:

    DT.429627  DT.100024689  DT.40316157  DT.101965587  DT.97796275  DT.95226366 

    24/110 AceView cDNA sequences (see all 110):

    AI341484 N57430 AI830882 AI620877 AA913014 AI971766 BM697999 AW592543 
    AI741243 AW511286 AL832839 BF196003 AW771551 AK095161 BU685433 BC037293 
    BU633913 AI480031 AI076723 BM984922 BI257780 BX643372 AA286876 AW072186 

    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

    C3orf58 expression in normal human tissues (normalized intensities)      C3orf58 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATTATGTG
    C3orf58 Expression
    About this image


    C3orf58 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
     
     Neuron (Nervous System)
             Midbrain dopaminergic-like neurons ( Generation of midbrain dopaminergic, forebrain...
     
     Neural Tube (Nervous System)
             Mesencephalic Floor Plate
     
     Brain (Nervous System)
             Midbrain dopaminergic-like neurons ( Generation of midbrain dopaminergic, forebrain...
     
     Oral Cavity (Gastrointestinal Tract)
             mouth   

    See C3orf58 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C3orf58

    SOURCE GeneReport for Unigene cluster: Hs.288954
        SABiosciences Custom PCR Arrays for C3orf58
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C3orf58

    (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 C3orf58 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1190002N15Rik1 , 5 RIKEN cDNA 1190002N15 gene1, 5 93.72(n)1
    97.67(a)1
      9 (49.03 cM)5
    688611  NM_001033145.21  NP_001028317.21 
     945178645 
    chicken
    (Gallus gallus)
    Aves C9H3orf581 chromosome 9 open reading frame, human C3orf58 86.25(n)
    89.74(a)
      424771  XM_422591.2  XP_422591.2 
    lizard
    (Anolis carolinensis)
    Reptilia C3ORF586
    Uncharacterized protein
    95(a)
    1 ↔ 1
    3(20979547-20980816)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.161822 Xenopus laevis transcribed sequences 84.55(n)    BU912640.1 
    zebrafish
    (Danio rerio)
    Actinopterygii C24H3orf58 (2 of 2)6
    C2H3orf58 (1 of 2)6
    chromosome 3 open reading frame 58
    82(a)
    78(a)
    many → 1
    many → 1
    24(5736541-5797178)
    2(8045450-8096540)


    ENSEMBL Gene Tree for C3orf58 (if available)
    TreeFam Gene Tree for C3orf58 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C3orf58 gene
    CXorf362  
    1 SIMAP similar gene for C3orf58 using alignment to 3 protein entries:     DIA1_HUMAN (see all proteins):
    CXorf36

    C3orf58 for paralogs           About GeneDecksing



    (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

    10/583 SNPs in C3orf58 are shown (see all 583)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1856420981,2
    --143688755(+) TCAAAC/TGATGC 1 -- us2k10--------
    rs7234901,2
    C,F,O,A,H--143688761(+) GATGCT/CTATAC 1 -- us2k126Minor allele frequency- C:0.36NA EA NS WA CSA 2587
    rs7234911,2
    C,F,A--143688768(+) ATACAA/GTTCCA 1 -- us2k111Minor allele frequency- G:0.48NA WA CSA EA 373
    rs1505291801,2
    --143688780(+) GCATCC/TGGAGG 1 -- us2k10--------
    rs1396348651,2
    C--143688967(+) ATTGT-/CTACTATT 1 -- us2k10--------
    rs7234921,2
    C,F,A--143689037(+) TAAGTC/AATAAC 1 -- us2k1 tfbs39Minor allele frequency- A:0.39WA NA CSA EA 369
    rs1901089241,2
    --143689213(+) TCCCAA/CCAAAG 1 -- us2k10--------
    rs19920931,2
    C,F,O,A,H--143689222(+) AGGCGG/ACATAA 1 -- us2k1105Minor allele frequency- A:0.38NS EA PA EU CA WA NA CSA 6527
    rs1996892831,2
    C--143689369(+) TTTTT-/TCAAAA 1 -- us2k10--------
    rs1921385981,2
    --143689413(+) ACAAAC/TACCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C3orf58 (143690640 - 143767561 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for C3orf58:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2726004CNV Deletion23290073
    esv2726005CNV Deletion23290073
    esv2726007CNV Deletion23290073
    esv2321998CNV Deletion18987734
    nsv238021CNV Loss16902084
    nsv877568CNV Gain21882294
    nsv518814CNV Gain19592680

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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

    C3orf58 for disorders           About MalaCards
    OMIM gene information: 612200    OMIM disorders: --

    UniProtKB/Swiss-Prot: DIA1_HUMAN, Q8NDZ4
  • Note=Genetic variations in C3orf58 may be associated with susceptibility to autism

  • 1 disease from the University of Copenhagen DISEASES database for C3orf58:
    Autistic disorder

    C3orf58 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C3orf58

    Export disorders for C3orf58 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 C3orf58 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with C3orf58)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the deleted in autism 1 protein f amily: implications for studying cognitive disorders. (PubMed id 21283809)1, 3 Aziz A....Bishop N.E. (2011)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. C3orf58, a novel paracrine protein, stimulates cardiom yocyte cell-cycle progression through the PI3K-AKT-CDK7 pathway. (PubMed id 23784961)1 Beigi F....Dzau V.J. (2013)
    5. DIA1R is an X-linked gene related to Deleted In Autis m-1. (PubMed id 21264219)1 Aziz A....Bishop N.E. (2011)
    6. Genome-wide and candidate gene association study of cigarette smoking behaviors. (PubMed id 19247474)4 Caporaso N....Bergen A.W. (2009)
    7. Expression of the novel Golgi protein GoPro49 is deve lopmentally regulated during mesenchymal differentiation. (PubMed id 18651652)1 Takatalo M....RAPnnholm R. (2008)
    8. Identifying autism loci and genes by tracing recent shared ancestry. (PubMed id 18621663)2 Morrow E.M....Walsh C.A. (2008)
    9. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    10. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 205428 HGNC: 28490 AceView: MGC33365 Ensembl:ENSG00000181744 euGenes: HUgn205428
    ECgene: C3orf58 H-InvDB: C3orf58

    (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 C3orf58 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 C3orf58 gene:
    Search GeneIP for patents involving C3orf58

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



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