Aliases for C1orf112 Gene

Aliases for C1orf112 Gene

  • Chromosome 1 Open Reading Frame 112 2 3 5
  • Uncharacterized Protein C1orf112 3 4
  • C1orf112 5
  • FLJ10706 2

External Ids for C1orf112 Gene

Previous GeneCards Identifiers for C1orf112 Gene

  • GC01P166496
  • GC01P168030
  • GC01P169631
  • GC01P140986

Summaries for C1orf112 Gene

GeneCards Summary for C1orf112 Gene

C1orf112 (Chromosome 1 Open Reading Frame 112) is a Protein Coding gene. Diseases associated with C1orf112 include N Syndrome and Mitochondrial Complex I Deficiency, Nuclear Type 1.

Additional gene information for C1orf112 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C1orf112 Gene

Genomics for C1orf112 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C1orf112 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1orf112 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1orf112

Top Transcription factor binding sites by QIAGEN in the C1orf112 gene promoter:
  • AP-1
  • ATF-2
  • COMP1
  • CUTL1
  • Evi-1
  • IRF-1
  • IRF-2
  • LCR-F1
  • RP58

Genomic Locations for C1orf112 Gene

Genomic Locations for C1orf112 Gene
chr1:169,662,007-169,854,080
(GRCh38/hg38)
Size:
192,074 bases
Orientation:
Plus strand
chr1:169,631,245-169,823,221
(GRCh37/hg19)
Size:
191,977 bases
Orientation:
Plus strand

Genomic View for C1orf112 Gene

Genes around C1orf112 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf112 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf112 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf112 Gene

Proteins for C1orf112 Gene

  • Protein details for C1orf112 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSG2-CA112_HUMAN
    Recommended name:
    Uncharacterized protein C1orf112
    Protein Accession:
    Q9NSG2
    Secondary Accessions:
    • A6NFP1
    • B3KU42
    • Q3KNQ1
    • Q9H8L5
    • Q9NVJ0

    Protein attributes for C1orf112 Gene

    Size:
    853 amino acids
    Molecular mass:
    96554 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C1orf112 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C1orf112 Gene

Post-translational modifications for C1orf112 Gene

  • Ubiquitination at Lys25 and Lys783
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C1orf112 Gene

Domains & Families for C1orf112 Gene

Gene Families for C1orf112 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C1orf112 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1orf112 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60381 (B4E0A9_HUMAN)
genes like me logo Genes that share domains with C1orf112: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C1orf112 Gene

Function for C1orf112 Gene

Phenotypes From GWAS Catalog for C1orf112 Gene

genes like me logo Genes that share phenotypes with C1orf112: view

Animal Models for C1orf112 Gene

MGI Knock Outs for C1orf112:

Animal Model Products

CRISPR Products

miRNA for C1orf112 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1orf112

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C1orf112 Gene

Localization for C1orf112 Gene

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 C1orf112 gene
Compartment Confidence
nucleus 3
mitochondrion 2
cytosol 1
plasma membrane 0
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C1orf112 Gene

Pathways & Interactions for C1orf112 Gene

PathCards logo

SuperPathways for C1orf112 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C1orf112 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C1orf112 Gene

Drugs & Compounds for C1orf112 Gene

No Compound Related Data Available

Transcripts for C1orf112 Gene

mRNA/cDNA for C1orf112 Gene

12 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1orf112

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf112 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1:
SP2: - -
SP3: - -
SP4: - - - -
SP5: - - -
SP6: - - - - -

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for C1orf112 Gene

GeneLoc Exon Structure for
C1orf112

Expression for C1orf112 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C1orf112 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C1orf112 Gene

This gene is overexpressed in Bone (62.7) and Heart (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C1orf112 Gene



Protein tissue co-expression partners for C1orf112 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1orf112

SOURCE GeneReport for Unigene cluster for C1orf112 Gene:

Hs.443551

Evidence on tissue expression from TISSUES for C1orf112 Gene

  • Nervous system(2)
genes like me logo Genes that share expression patterns with C1orf112: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1orf112 Gene

Orthologs for C1orf112 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1orf112 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C1H1orf112 30
  • 99.3 (n)
C1orf112 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C7H1orf112 30
  • 87.55 (n)
C1orf112 31
  • 79 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C16H1orf112 30
  • 87.29 (n)
C1orf112 31
  • 78 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC498265 30
  • 81.67 (n)
Mouse
(Mus musculus)
Mammalia BC055324 30 17 31
  • 81.36 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C1orf112 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 67 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
Chicken
(Gallus gallus)
Aves C8H1ORF112 30
  • 68.05 (n)
C1orf112 31
  • 55 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C1orf112 31
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c1orf112 30
  • 59.97 (n)
Str.481 30
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-97o5.1 30
  • 54.41 (n)
C20H1orf112 31
  • 43 (a)
OneToOne
Species where no ortholog for C1orf112 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 C1orf112 Gene

ENSEMBL:
Gene Tree for C1orf112 (if available)
TreeFam:
Gene Tree for C1orf112 (if available)

Paralogs for C1orf112 Gene

No data available for Paralogs for C1orf112 Gene

Variants for C1orf112 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1orf112 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
711777 Benign: not provided 169,851,914(+) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
714100 Benign: not provided 169,827,056(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs2272920 - p.Ala481Ser

Additional dbSNP identifiers (rs#s) for C1orf112 Gene

Structural Variations from Database of Genomic Variants (DGV) for C1orf112 Gene

Variant ID Type Subtype PubMed ID
esv2719417 CNV deletion 23290073
esv2758976 CNV gain+loss 17122850
esv3578257 CNV loss 25503493
nsv1078878 OTHER inversion 25765185
nsv428268 CNV gain+loss 18775914

Variation tolerance for C1orf112 Gene

Residual Variation Intolerance Score: 10.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.22; 69.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf112 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf112

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf112 Gene

Disorders for C1orf112 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C1orf112 Gene - From: DISEASES

Disorder Aliases PubMed IDs
n syndrome
  • nsx
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C1orf112

genes like me logo Genes that share disorders with C1orf112: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C1orf112 Gene

Publications for C1orf112 Gene

  1. GeneFriends: an online co-expression analysis tool to identify novel gene targets for aging and complex diseases. (PMID: 23039964) van Dam S … de Magalhães JP (BMC genomics 2012) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. A protein-interaction network of interferon-stimulated genes extends the innate immune system landscape. (PMID: 30833792) Hubel P … Pichlmair A (Nature immunology 2019) 3
  5. FIGL1 and its novel partner FLIP form a conserved complex that regulates homologous recombination. (PMID: 29608566) Fernandes JB … Mercier R (PLoS genetics 2018) 3

Products for C1orf112 Gene

  • Signalway Proteins for C1orf112

Sources for C1orf112 Gene