Aliases for C19orf70 Gene
Aliases for C19orf70 Gene
External Ids for C19orf70 Gene
- HGNC: 33702
- Entrez Gene: 125988
- Ensembl: ENSG00000174917
- OMIM: 616658
- UniProtKB: Q5XKP0
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
- Transcription factor binding sites by QIAGEN in the C19orf70 gene promoter:
Regulatory Element Products
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
- Cytogenetic band:
-
- 19p13.3 by Ensembl
- 19p13.3 by Entrez Gene
- 19p13.3 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for C19orf70 Gene
Post-translational modifications for C19orf70 Gene
Other Protein References for C19orf70 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for C19orf70
-
Abcam antibodies for C19orf70
- Invitrogen Antibodies for C19orf70
- Search GeneTex for Antibodies for C19orf70
Protein Products
-
OriGene Purified Proteins for C19orf70
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- Search GeneTex for Proteins for C19orf70
Assay Products
No data available for DME Specific Peptides for C19orf70 Gene
Domains & Families for C19orf70 Gene
Suggested Antigen Peptide Sequences for C19orf70 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q5XKP0- Family:
-
- Belongs to the MICOS complex subunit Mic13 family.
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.
Phenotypes for C19orf70 Gene
- GenomeRNAi human phenotypes for C19orf70:
Animal Model Products
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- Cyagen custom Knockout/knockin (KOKI) mouse models for C19orf70
-
-
ViGene Biosciences lentiviral particle packaged cDNA for C19orf70 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for C19orf70 gene
- Search ViGene Biosciences for C19orf70
CRISPR Products
-
OriGene CRISPR knockouts for C19orf70
-
Santa Cruz Biotechnology (SCBT) CRISPR for C19orf70
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miRNA Products
- Search ViGene Biosciences for C19orf70
Inhibitory RNA Products
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Clone Products
-
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for C19orf70
-
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-
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-
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Flow Cytometry 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}.
| 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 | -- |
Pathways & Interactions for C19orf70 Gene
Interacting Proteins for C19orf70 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0042407 | cristae formation | IMP | 25997101 |
No data available for Pathways by source and SIGNOR curated interactions for C19orf70 Gene
Transcripts for C19orf70 Gene
mRNA/cDNA for C19orf70 Gene
- (4) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (188) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for C19orf70 Gene
CRISPR Products
-
OriGene CRISPR knockouts for C19orf70
-
Santa Cruz Biotechnology (SCBT) CRISPR for C19orf70
- GenScript: Design CRISPR guide RNA sequences for C19orf70
miRNA Products
- Search ViGene Biosciences for C19orf70
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for C19orf70
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-
ViGene Biosciences ready-to-package AAV shRNAs for C19orf70 gene
Clone Products
-
OriGene ORF clones in human for C19orf70
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for C19orf70
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for C19orf70
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for C19orf70 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C19orf70 Gene
NURSA nuclear receptor signaling pathways regulating expression of C19orf70 Gene:
C19orf70SOURCE GeneReport for Unigene cluster for C19orf70 Gene:
Hs.356626Evidence on tissue expression from TISSUES for C19orf70 Gene
- Nervous system(4.5)
- Pancreas(4.2)
- Kidney(2.2)
Primer Products
-
OriGene qPCR primer pairs for C19orf70
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | C19orf70 35 |
|
OneToOne | |
| C19H19orf70 34 |
|
||||
| dog (Canis familiaris) |
Mammalia | C20H19orf70 34 |
|
||
| C19ORF70 35 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | C7H19orf70 34 |
|
||
| C19orf70 35 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | 2410015M20Rik 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | C19orf70 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LOC100858091 34 |
|
||
| C19orf70 35 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | C19orf70 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100489521 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | si:dkey-78l4.14 34 |
|
||
| C22H19orf70 35 |
|
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)
Paralogs for C19orf70 Gene
(1) SIMAP similar genes for C19orf70 Gene using alignment to 2 proteins:
Pseudogenes.org Pseudogenes for C19orf70 Gene
No data available for Paralogs for C19orf70 Gene
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1062851 | CNV | gain | 25217958 |
| nsv953952 | CNV | deletion | 24416366 |
Relevant External Links for C19orf70 Gene
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
- 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
- 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
- Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64
- 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
- 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
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- VectorBuilder custom plasmid, inducible vectors for C19orf70
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for C19orf70 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
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- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
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- (136) ViGene Biosciences
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- (141) ENCODE
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- (143) Horizon
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- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




