Free for academic non-profit institutions. Other users need a Commercial license

Aliases for C3orf58 Gene

Aliases for C3orf58 Gene

  • Chromosome 3 Open Reading Frame 58 2 3 5
  • Hypoxia And Akt Induced Stem Cell Factor 2 3
  • Hypoxia And AKT-Induced Stem Cell Factor 3 4
  • Golgi Protein Of 49 KDa 3 4
  • Deleted In Autism 1 2 3
  • GoPro49 3 4
  • DIA1 3 4
  • HASF 3 4
  • UPF0672 Protein C3orf58 3
  • Golgi Protein GoPro49 3

External Ids for C3orf58 Gene

Previous GeneCards Identifiers for C3orf58 Gene

  • GC03P145174
  • GC03P143690
  • GC03P141062

Summaries for C3orf58 Gene

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.

UniProtKB/Swiss-Prot for C3orf58 Gene

  • May play a role in cardiomyocyte proliferation through paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling cascade.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C3orf58 Gene

Genomics for C3orf58 Gene

Regulatory Elements for C3orf58 Gene

Enhancers for C3orf58 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C3orf58 on UCSC Golden Path with GeneCards custom track

Promoters for C3orf58 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C3orf58 on UCSC Golden Path with GeneCards custom track

Genomic Location for C3orf58 Gene

Chromosome:
3
Start:
143,971,798 bp from pter
End:
144,048,719 bp from pter
Size:
76,922 bases
Orientation:
Plus strand

Genomic View for C3orf58 Gene

Genes around C3orf58 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C3orf58 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C3orf58 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C3orf58 Gene

Proteins for C3orf58 Gene

  • Protein details for C3orf58 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDZ4-DIA1_HUMAN
    Recommended name:
    Deleted in autism protein 1
    Protein Accession:
    Q8NDZ4
    Secondary Accessions:
    • B2RCF2
    • B7Z1W3

    Protein attributes for C3orf58 Gene

    Size:
    430 amino acids
    Molecular mass:
    49482 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C3orf58 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C3orf58 Gene

Proteomics data for C3orf58 Gene at MOPED

Post-translational modifications for C3orf58 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C3orf58 Gene

Antibody Products

No data available for DME Specific Peptides for C3orf58 Gene

Domains & Families for C3orf58 Gene

Protein Domains for C3orf58 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C3orf58 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NDZ4

UniProtKB/Swiss-Prot:

DIA1_HUMAN :
  • Belongs to the DIA1 family.
Family:
  • Belongs to the DIA1 family.
genes like me logo Genes that share domains with C3orf58: view

No data available for Gene Families for C3orf58 Gene

Function for C3orf58 Gene

Molecular function for C3orf58 Gene

UniProtKB/Swiss-Prot Function:
May play a role in cardiomyocyte proliferation through paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling cascade.

Phenotypes for C3orf58 Gene

genes like me logo Genes that share phenotypes with C3orf58: view

Animal Model Products

CRISPR Products

miRNA for C3orf58 Gene

miRTarBase miRNAs that target C3orf58

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C3orf58 Gene

Localization for C3orf58 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C3orf58 Gene

Cytoplasmic vesicle, COPI-coated vesicle. Golgi apparatus. Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C3orf58 Gene COMPARTMENTS Subcellular localization image for C3orf58 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for C3orf58 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23784961
GO:0030126 COPI vesicle coat IDA 18651652
genes like me logo Genes that share ontologies with C3orf58: view

Pathways & Interactions for C3orf58 Gene

SuperPathways for C3orf58 Gene

No Data Available

Interacting Proteins for C3orf58 Gene

Gene Ontology (GO) - Biological Process for C3orf58 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C3orf58 Gene

Drugs & Compounds for C3orf58 Gene

No Compound Related Data Available

Transcripts for C3orf58 Gene

Unigene Clusters for C3orf58 Gene

Chromosome 3 open reading frame 58:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C3orf58 Gene

No ASD Table

Relevant External Links for C3orf58 Gene

GeneLoc Exon Structure for
C3orf58
ECgene alternative splicing isoforms for
C3orf58

Expression for C3orf58 Gene

mRNA expression in normal human tissues for C3orf58 Gene

Protein differential expression in normal tissues from HIPED for C3orf58 Gene

This gene is overexpressed in Lung (35.8) and Peripheral blood mononuclear cells (13.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for C3orf58 Gene



SOURCE GeneReport for Unigene cluster for C3orf58 Gene Hs.288954

genes like me logo Genes that share expression patterns with C3orf58: view

Protein tissue co-expression partners for C3orf58 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C3orf58 Gene

Orthologs for C3orf58 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C3orf58 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C1H3orf58 35
  • 96.51 (n)
  • 99.77 (a)
C1H3orf58 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C23H3orf58 35
  • 97.29 (n)
  • 99.77 (a)
C3orf58 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1190002N15Rik 35
  • 93.72 (n)
  • 97.67 (a)
1190002N15Rik 16
1190002N15Rik 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C3H3orf58 35
  • 99.69 (n)
  • 99.77 (a)
C3orf58 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1309079 35
  • 94.57 (n)
  • 97.67 (a)
oppossum
(Monodelphis domestica)
Mammalia C3orf58 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C3orf58 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves C3ORF58 35
  • 86.25 (n)
  • 89.74 (a)
C3orf58 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C3orf58 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c3orf58 35
  • 82.75 (n)
  • 88.11 (a)
Str.7045 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.16182 35
zebrafish
(Danio rerio)
Actinopterygii dia1b 35
  • 70.71 (n)
  • 82.05 (a)
C24H3orf58 (2 of 2) 36
  • 82 (a)
OneToMany
C2H3orf58 (1 of 2) 36
  • 78 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
Species with no ortholog for C3orf58:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C3orf58 Gene

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

Paralogs for C3orf58 Gene

Paralogs for C3orf58 Gene

(1) SIMAP similar genes for C3orf58 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with C3orf58: view

Variants for C3orf58 Gene

Sequence variations from dbSNP and Humsavar for C3orf58 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs721572 -- 143,979,912(-) AAATA(A/C)TTTTC intron-variant
rs721573 -- 143,979,784(-) CTGAT(A/G)TCAAA intron-variant
rs723490 -- 143,969,919(+) GATGC(C/T)TATAC upstream-variant-2KB
rs723491 -- 143,969,926(+) ATACA(A/G)TTCCA upstream-variant-2KB
rs723492 -- 143,970,195(+) TAAGT(A/C)ATAAC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C3orf58 Gene

Variant ID Type Subtype PubMed ID
nsv877568 CNV Gain 21882294
nsv518814 CNV Gain 19592680
esv2726004 CNV Deletion 23290073
esv2321998 CNV Deletion 18987734
esv2726005 CNV Deletion 23290073
esv2726007 CNV Deletion 23290073
nsv238021 CNV Loss 16902084

Variation tolerance for C3orf58 Gene

Residual Variation Intolerance Score: 20.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C3orf58 Gene

HapMap Linkage Disequilibrium report
C3orf58

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C3orf58 Gene

Disorders for C3orf58 Gene

UniProtKB/Swiss-Prot

DIA1_HUMAN
  • Note=Genetic variations in C3orf58 may be associated with susceptibility to autism (PubMed:18621663). {ECO:0000269 PubMed:18621663}.

Relevant External Links for C3orf58

Genetic Association Database (GAD)
C3orf58
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C3orf58

No disorders were found for C3orf58 Gene.

No data available for MalaCards and Genatlas for C3orf58 Gene

Publications for C3orf58 Gene

  1. C3orf58, a novel paracrine protein, stimulates cardiomyocyte cell-cycle progression through the PI3K-AKT-CDK7 pathway. (PMID: 23784961) Beigi F. … Dzau V.J. (Circ. Res. 2013) 2 3 4 67
  2. HASF is a stem cell paracrine factor that activates PKC epsilon mediated cytoprotection. (PMID: 24269490) Huang J. … Dzau V.J. (J. Mol. Cell. Cardiol. 2014) 2 3
  3. Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders. (PMID: 21283809) Aziz A. … Bishop N.E. (PLoS ONE 2011) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. DIA1R is an X-linked gene related to Deleted In Autism-1. (PMID: 21264219) Aziz A. … Bishop N.E. (PLoS ONE 2011) 3

Products for C3orf58 Gene

Sources for C3orf58 Gene

Content