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Aliases for C17orf70 Gene

Aliases for C17orf70 Gene

  • Chromosome 17 Open Reading Frame 70 2 3
  • FAAP100 3 4 6
  • Fanconi Anemia Associated Protein 100 KDa Subunit 3
  • Fanconi Anemia-Associated Protein Of 100 KDa 3
  • Fanconi Anemia Core Complex 100 KDa Subunit 3
  • Fanconi Anemia-Associated Protein, 100kDa 3
  • Fanconi Anemia-Associated Protein 2
  • 100kDa 2

External Ids for C17orf70 Gene

Previous GeneCards Identifiers for C17orf70 Gene

  • GC17M077118
  • GC17M079506
  • GC17M074954

Summaries for C17orf70 Gene

Entrez Gene Summary for C17orf70 Gene

  • FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]

GeneCards Summary for C17orf70 Gene

C17orf70 (Chromosome 17 Open Reading Frame 70) is a Protein Coding gene. Diseases associated with C17orf70 include fanconi anemia, complementation group m. Among its related pathways are DNA Repair and Fanconi anemia pathway (KEGG).

UniProtKB/Swiss-Prot for C17orf70 Gene

  • Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C17orf70 Gene

Genomics for C17orf70 Gene

Regulatory Elements for C17orf70 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for C17orf70 Gene

Start:
81,539,885 bp from pter
End:
81,553,961 bp from pter
Size:
14,077 bases
Orientation:
Minus strand

Genomic View for C17orf70 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C17orf70 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C17orf70 Gene

Proteins for C17orf70 Gene

  • Protein details for C17orf70 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0VG06-FP100_HUMAN
    Recommended name:
    Fanconi anemia-associated protein of 100 kDa
    Protein Accession:
    Q0VG06
    Secondary Accessions:
    • A6NNM1
    • Q8N3F7
    • Q9BV13
    • Q9H6K7
    • Q9H7E8

    Protein attributes for C17orf70 Gene

    Size:
    881 amino acids
    Molecular mass:
    93433 Da
    Quaternary structure:
    • Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and FAAP100. Forms a subcomplex with FANCB and FANCL.
    SequenceCaution:
    • Sequence=AAH21968.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15251.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD39037.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for C17orf70 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C17orf70 Gene

Proteomics data for C17orf70 Gene at MOPED

Post-translational modifications for C17orf70 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C17orf70 Gene

No data available for DME Specific Peptides for C17orf70 Gene

Domains for C17orf70 Gene

Protein Domains for C17orf70 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C17orf70: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C17orf70 Gene

Function for C17orf70 Gene

Molecular function for C17orf70 Gene

UniProtKB/Swiss-Prot Function: Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed.

Gene Ontology (GO) - Molecular Function for C17orf70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 17396147
genes like me logo Genes that share ontologies with C17orf70: view

Animal Model Products

CRISPR Products

miRNA for C17orf70 Gene

miRTarBase miRNAs that target C17orf70

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for C17orf70 Gene

Localization for C17orf70 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C17orf70 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C17orf70 Gene COMPARTMENTS Subcellular localization image for C17orf70 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for C17orf70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0043240 Fanconi anaemia nuclear complex IEA --
GO:0045111 intermediate filament cytoskeleton IDA --
genes like me logo Genes that share ontologies with C17orf70: view

Pathways for C17orf70 Gene

genes like me logo Genes that share pathways with C17orf70: view

Pathways by source for C17orf70 Gene

2 Reactome pathways for C17orf70 Gene
1 KEGG pathway for C17orf70 Gene

Gene Ontology (GO) - Biological Process for C17orf70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair TAS --
genes like me logo Genes that share ontologies with C17orf70: view

Transcripts for C17orf70 Gene

Unigene Clusters for C17orf70 Gene

Chromosome 17 open reading frame 70:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C17orf70

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for C17orf70

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C17orf70 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11
SP1: -
SP2: - - - - - - - - -
SP3:
SP4:
SP5: - - - - -
SP6: -

Relevant External Links for C17orf70 Gene

GeneLoc Exon Structure for
C17orf70
ECgene alternative splicing isoforms for
C17orf70

Expression for C17orf70 Gene

mRNA expression in normal human tissues for C17orf70 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for C17orf70 Gene

SOURCE GeneReport for Unigene cluster for C17orf70 Gene Hs.313905

genes like me logo Genes that share expressions with C17orf70: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C17orf70 Gene

Orthologs for C17orf70 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C17orf70 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C17H17orf70 35
  • 99.47 (n)
  • 99.77 (a)
C17ORF70 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C17orf70 36
  • 73 (a)
OneToOne
C19H17orf70 35
  • 79.96 (n)
  • 74.07 (a)
dog
(Canis familiaris)
Mammalia C17orf70 36
  • 71 (a)
OneToOne
C9H17orf70 35
  • 79.07 (n)
  • 72.79 (a)
mouse
(Mus musculus)
Mammalia 2310003H01Rik 35
  • 78.21 (n)
  • 73.58 (a)
2310003H01Rik 16
2310003H01Rik 36
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C17orf70 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306926 35
  • 77.94 (n)
  • 73.69 (a)
chicken
(Gallus gallus)
Aves C18H17orf70 35
  • 66.16 (n)
  • 57.49 (a)
C18H17orf70 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C17orf70 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488904 35
  • 46.37 (n)
  • 35.38 (a)
zebrafish
(Danio rerio)
Actinopterygii C12H17orf70 36
  • 31 (a)
OneToOne
si:dkey-57h18.1 35
  • 45.29 (n)
  • 33.75 (a)
Species with no ortholog for C17orf70:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 C17orf70 Gene

ENSEMBL:
Gene Tree for C17orf70 (if available)
TreeFam:
Gene Tree for C17orf70 (if available)

Paralogs for C17orf70 Gene

Selected SIMAP similar genes for C17orf70 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with C17orf70: view

No data available for Paralogs for C17orf70 Gene

Variants for C17orf70 Gene

Sequence variations from dbSNP and Humsavar for C17orf70 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs8055 -- 81,540,144(-) CCTCC(A/G)GCCGG utr-variant-3-prime, nc-transcript-variant
rs12257 -- 81,541,353(+) GAGAT(C/T)AGGAG missense, reference, nc-transcript-variant
rs12675 -- 81,540,246(-) CAAAA(C/T)AGCAT utr-variant-3-prime, nc-transcript-variant
rs14422 -- 81,541,374(+) CTGGG(C/T)GGCCT reference, missense, nc-transcript-variant
rs1129359 -- 81,540,567(-) TGTCT(A/C)TCCTT utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for C17orf70 Gene

Variant ID Type Subtype PubMed ID
esv26223 CNV Gain+Loss 19812545
nsv828128 CNV Loss 20364138
nsv909000 CNV Loss 21882294
nsv909052 CNV Loss 21882294
nsv428351 CNV Gain 18775914
dgv3318n71 CNV Loss 21882294
dgv3320n71 CNV Loss 21882294
dgv3324n71 CNV Loss 21882294
dgv3329n71 CNV Loss 21882294
dgv3330n71 CNV Loss 21882294
dgv3331n71 CNV Loss 21882294
nsv833567 CNV Loss 17160897
nsv833568 CNV Loss 17160897
dgv3332n71 CNV Loss 21882294
nsv470620 CNV Loss 18288195
nsv2164 CNV Insertion 18451855

Relevant External Links for C17orf70 Gene

HapMap Linkage Disequilibrium report
C17orf70

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C17orf70 Gene

Disorders for C17orf70 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for C17orf70 Gene including...

Search for C17orf70 Gene in MalaCards »

(1) University of Copenhagen DISEASES for C17orf70 Gene

genes like me logo Genes that share disorders with C17orf70: view

No data available for UniProtKB/Swiss-Prot for C17orf70 Gene

Publications for C17orf70 Gene

  1. FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway. (PMID: 17396147) Ling C. … Wang W. (EMBO J. 2007) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3
  4. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PMID: 16116422) Meetei A.R. … Wang W. (Nat. Genet. 2005) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for C17orf70 Gene

Sources for C17orf70 Gene

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