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

Aliases for C19orf70 Gene

Aliases for C19orf70 Gene

  • Chromosome 19 Open Reading Frame 70 2 3 5
  • QIL1 3 4
  • MICOS Complex Subunit MIC13 3
  • Protein QIL1 3
  • Protein P117 4
  • MIC13 3
  • 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. Diseases associated with C19orf70 include 3-Methylglutaconic Aciduria, Type Iii.

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.

Additional gene information for C19orf70 Gene

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

GeneHancer (GH) Regulatory Elements for C19orf70 Gene

Promoters and enhancers for C19orf70 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J005679 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.5 461 2.5 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 HSD11B1L C19orf70 DUS3L SAFB KHSRP ENSG00000267571 KDM4B RANBP3 SAFB2 GTF2F1
GH19J005620 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.8 +57.5 57512 6 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B SAFB2 SAFB RPL36 KHSRP DUS3L KDM4B DPP9-AS1 HSD11B1L C19orf70 GTF2F1
GH19J005626 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.5 +52.5 52524 3.3 HDGF PKNOX1 ATF1 YY1 ZNF766 ATF7 CAVIN1 ZNF592 MEF2D GMEB1 RPL36 SNRPEP4 KHSRP C19orf70 HSD11B1L ENSG00000267571 DUS3L SAFB2 SAFB
GH19J005689 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 0.4 -11.2 -11202 5 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 ZC3H11A RPL36 DUS3L KHSRP SAFB ENSG00000267571 SNRPEP4 SAFB2 VMAC RANBP3 KDM4B
GH19J005685 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 0.4 -6.0 -6037 2 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 SLC30A9 GTF3C2 HSD11B1L PTPRS DUS3L LONP1 ENSG00000267571 VMAC SNRPEP4 KHSRP SAFB KDM4B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C19orf70 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C19orf70 gene promoter:
  • HOXA3
  • p300
  • STAT5B
  • Sox5
  • AML1a
  • NRSF form 1
  • NRSF form 2
  • HNF-4alpha1
  • ZIC2
  • Ik-1

Genomic Locations for C19orf70 Gene

Genomic Locations for C19orf70 Gene
chr19:5,678,419-5,680,900
(GRCh38/hg38)
Size:
2,482 bases
Orientation:
Minus strand
chr19:5,678,432-5,680,911
(GRCh37/hg19)
Size:
2,480 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 MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex.
    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

Gene Families for C19orf70 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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

Human Phenotype Ontology for C19orf70 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C19orf70

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (1)
See all subcellular structures

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 IDA,IEA 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

mRNA/cDNA for C19orf70 Gene

Unigene Clusters for C19orf70 Gene

Chromosome 19 open reading frame 70:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C19orf70

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, 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

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 34
  • 100 (a)
OneToOne
C19H19orf70 33
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia C20H19orf70 33
  • 87.85 (n)
C19ORF70 34
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C7H19orf70 33
  • 86.72 (n)
C19orf70 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2410015M20Rik 16 34 33
  • 84.75 (n)
oppossum
(Monodelphis domestica)
Mammalia C19orf70 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858091 33
  • 66.04 (n)
C19orf70 34
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C19orf70 34
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489521 33
  • 57.37 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-78l4.14 33
  • 51.05 (n)
C22H19orf70 34
  • 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:

  • K7EIR2_HUMAN
  • K7EKR0_HUMAN

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 Variation AA Info Type
rs1064797230 uncertain-significance, not provided 5,678,650(-) T/C downstream_transcript_variant, genic_downstream_transcript_variant, splice_acceptor_variant
rs1000284436 -- 5,682,605(-) G/A upstream_transcript_variant
rs1000427507 -- 5,678,041(-) G/A downstream_transcript_variant
rs1000919098 -- 5,682,248(-) A/G upstream_transcript_variant
rs1001427927 -- 5,679,458(-) C/T intron_variant

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for C19orf70 Gene - From: Orphanet

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria, type iii
  • mgca3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C19orf70

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

No data available for 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 JW (eLife 2015) 2 3 4 58
  2. Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. (PMID: 27485409) Zeharia A … Elpeleg O (European journal of human genetics : EJHG 2016) 2 3 58
  3. QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation. (PMID: 29618761) Gödiker J … Marquardt T (Journal of human genetics 2018) 3 58
  4. QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease. (PMID: 27623147) Guarani V … Schiff M (eLife 2016) 3 58
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 58

Products for C19orf70 Gene

Sources for C19orf70 Gene

Content
Loading form....