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Aliases for C19orf70 Gene

Aliases for C19orf70 Gene

  • Chromosome 19 Open Reading Frame 70 2 3 5
  • MIC13 3 4
  • QIL1 3 4
  • MICOS Complex Subunit MIC13 3
  • Protein QIL1 3
  • Protein P117 4
  • P117 3

External Ids for C19orf70 Gene

Previous GeneCards Identifiers for C19orf70 Gene

  • GC19M005634
  • GC19M005439

Summaries for C19orf70 Gene

GeneCards Summary for C19orf70 Gene

C19orf70 (Chromosome 19 Open Reading Frame 70) is a Protein Coding gene.

UniProtKB/Swiss-Prot for C19orf70 Gene

  • Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Constituent of mature MICOS complex, it is required for the formation of cristae junction (CJ) and maintenance of cristae morphology. Required for the incorporation of MINOS1/MIC10 into the MICOS complex.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C19orf70 Gene

Genomics for C19orf70 Gene

Regulatory Elements for C19orf70 Gene

Enhancers for C19orf70 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
GH19G005620 1.7 FANTOM5 ENCODE dbSUPER 11.8 +57.5 57512 6.0 HNRNPUL1 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 RPL36 SAFB SNRPEP4 C19orf70 HSD11B1L DPP9-AS1 LONP1 SAFB2 DUS3L VMAC
GH19G005626 1.5 Ensembl ENCODE dbSUPER 11.5 +52.5 52525 3.3 HDGF ATF1 PKNOX1 ZNF766 ELK1 KLF13 CAVIN1 ZNF592 SREBF1 MEF2D RPL36 HSD11B1L C19orf70 SAFB2
GH19G005689 1.2 ENCODE 0.4 -11.2 -11202 5.0 CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 SSRP1 SNRPEP4 ENSG00000267571 SAFB SAFB2 VMAC RPL36 LONP1 GTF2F1 HSD11B1L SLC25A41
GH19G005685 1 ENCODE 0.4 -6.0 -6037 2.0 HDGF PKNOX1 AGO1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 SP3 LONP1 ENSG00000267571 VMAC SNRPEP4 SAFB C19orf70 GC19P005701
GH19G005690 0.9 ENCODE 0.4 -8.5 -8505 0.2 ZNF493 ZEB1 ZNF138 ZNF366 ZNF354C ZNF143 ZNF548 CREM ZNF202 ZNF362 SNRPEP4 ENSG00000267571 SAFB2 SAFB RPL36 GTF2F1 C19orf70 GC19P005701
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C19orf70 on UCSC Golden Path with GeneCards custom track

Promoters for C19orf70 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106404 300 1601 HDGF FOXA2 PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for C19orf70 Gene

Chromosome:
19
Start:
5,678,419 bp from pter
End:
5,680,900 bp from pter
Size:
2,482 bases
Orientation:
Minus strand

Genomic View for C19orf70 Gene

Genes around C19orf70 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C19orf70 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C19orf70 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C19orf70 Gene

Proteins for C19orf70 Gene

  • Protein details for C19orf70 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5XKP0-MIC13_HUMAN
    Recommended name:
    MICOS complex subunit MIC13
    Protein Accession:
    Q5XKP0
    Secondary Accessions:
    • A0A0B4J2A5
    • K7EKR0
    • Q86YE5

    Protein attributes for C19orf70 Gene

    Size:
    118 amino acids
    Molecular mass:
    13087 Da
    Quaternary structure:
    • Component of the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOO/MIC26, QIL1/MIC13, APOOL/MIC27 and IMMT/MIC60. The complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2, and with HSPA9.
    SequenceCaution:
    • Sequence=AC011499; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW69159.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for C19orf70 Gene

Post-translational modifications for C19orf70 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C19orf70 Gene

No data available for DME Specific Peptides for C19orf70 Gene

Domains & Families for C19orf70 Gene

Protein Domains for C19orf70 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C19orf70 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5XKP0

UniProtKB/Swiss-Prot:

MIC13_HUMAN :
  • Belongs to the MICOS complex subunit Mic13 family.
Family:
  • Belongs to the MICOS complex subunit Mic13 family.
genes like me logo Genes that share domains with C19orf70: view

No data available for Gene Families for C19orf70 Gene

Function for C19orf70 Gene

Molecular function for C19orf70 Gene

UniProtKB/Swiss-Prot Function:
Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Constituent of mature MICOS complex, it is required for the formation of cristae junction (CJ) and maintenance of cristae morphology. Required for the incorporation of MINOS1/MIC10 into the MICOS complex.
genes like me logo Genes that share phenotypes with C19orf70: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C19orf70 Gene

Localization for C19orf70 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C19orf70 Gene

Mitochondrion inner membrane; Single-pass membrane protein. Note=Enriched at crista junctions. {ECO:0000269 PubMed:25997101}.

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 C19orf70 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for C19orf70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA,IDA 25997101
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C19orf70: view

Pathways & Interactions for C19orf70 Gene

SuperPathways for C19orf70 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C19orf70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042407 cristae formation IMP 25997101
genes like me logo Genes that share ontologies with C19orf70: view

No data available for Pathways by source and SIGNOR curated interactions for C19orf70 Gene

Drugs & Compounds for C19orf70 Gene

No Compound Related Data Available

Transcripts for C19orf70 Gene

Unigene Clusters for C19orf70 Gene

Chromosome 19 open reading frame 70:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C19orf70 Gene

No ASD Table

Relevant External Links for C19orf70 Gene

GeneLoc Exon Structure for
C19orf70
ECgene alternative splicing isoforms for
C19orf70

Expression for C19orf70 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C19orf70 Gene

Protein differential expression in normal tissues from HIPED for C19orf70 Gene

This gene is overexpressed in Bone (27.2) and Heart (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C19orf70 Gene



Protein tissue co-expression partners for C19orf70 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C19orf70 Gene:

C19orf70

SOURCE GeneReport for Unigene cluster for C19orf70 Gene:

Hs.356626

Evidence on tissue expression from TISSUES for C19orf70 Gene

  • Nervous system(4.5)
  • Pancreas(4.2)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with C19orf70: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C19orf70 Gene

Orthologs for C19orf70 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C19orf70 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C19orf70 35
  • 100 (a)
OneToOne
C19H19orf70 34
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia C20H19orf70 34
  • 87.85 (n)
C19ORF70 35
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C7H19orf70 34
  • 86.72 (n)
C19orf70 35
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2410015M20Rik 34 16 35
  • 84.75 (n)
oppossum
(Monodelphis domestica)
Mammalia C19orf70 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858091 34
  • 66.04 (n)
C19orf70 35
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C19orf70 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489521 34
  • 57.37 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-78l4.14 34
  • 51.05 (n)
C22H19orf70 35
  • 42 (a)
OneToOne
Species where no ortholog for C19orf70 was found in the sources mined by GeneCards:
  • 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)
  • rat (Rattus norvegicus)
  • 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 C19orf70 Gene

ENSEMBL:
Gene Tree for C19orf70 (if available)
TreeFam:
Gene Tree for C19orf70 (if available)

Paralogs for C19orf70 Gene

(1) SIMAP similar genes for C19orf70 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for C19orf70 Gene

genes like me logo Genes that share paralogs with C19orf70: view

No data available for Paralogs for C19orf70 Gene

Variants for C19orf70 Gene

Sequence variations from dbSNP and Humsavar for C19orf70 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000284436 -- 5,682,605(+) GGTAT(A/G)GGGTG intron-variant, upstream-variant-2KB
rs1000427507 -- 5,678,041(+) ACTGC(A/G)GACAG downstream-variant-500B, utr-variant-3-prime
rs1000919098 -- 5,682,248(+) CACAG(A/G)CGCCT intron-variant, upstream-variant-2KB
rs1001427927 -- 5,679,458(+) AGAGG(C/T)GGAGG intron-variant, upstream-variant-2KB
rs1001555579 -- 5,681,339(+) AAGGC(C/T)CGCCG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C19orf70 Gene

Variant ID Type Subtype PubMed ID
nsv1062851 CNV gain 25217958
nsv953952 CNV deletion 24416366

Variation tolerance for C19orf70 Gene

Residual Variation Intolerance Score: 46.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C19orf70 Gene

Human Gene Mutation Database (HGMD)
C19orf70
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C19orf70

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C19orf70 Gene

Disorders for C19orf70 Gene

Relevant External Links for C19orf70

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C19orf70

No disorders were found for C19orf70 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C19orf70 Gene

Publications for C19orf70 Gene

  1. QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology. (PMID: 25997101) Guarani V. … Harper J.W. (Elife 2015) 2 3 4 64
  2. Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. (PMID: 27485409) Zeharia A. … Elpeleg O. (Eur. J. Hum. Genet. 2016) 2 3 64
  3. Evolution and structural organization of the mitochondrial contact site (MICOS) complex and the mitochondrial intermembrane space bridging (MIB) complex. (PMID: 26477565) Huynen M.A. … Brandt U. (Biochim. Biophys. Acta 2016) 3 64
  4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for C19orf70 Gene

Sources for C19orf70 Gene

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