C1orf194 Gene (Protein Coding)

Chromosome 1 Open Reading Frame 194

GC01M109105
GIFtS:
30
See more...

Aliases for C1orf194 Gene

Aliases for C1orf194 Gene

  • Chromosome 1 Open Reading Frame 194 2 3 5
  • Protein C1orf194 3 4
  • Uncharacterized Protein C1orf194 3
  • C1orf194 5

External Ids for C1orf194 Gene

Previous GeneCards Identifiers for C1orf194 Gene

  • GC01M109450
  • GC01M109648
  • GC01M107541

Summaries for C1orf194 Gene

GeneCards Summary for C1orf194 Gene

C1orf194 (Chromosome 1 Open Reading Frame 194) is a Protein Coding gene. Diseases associated with C1orf194 include Charcot-Marie-Tooth Disease and Tooth Disease. An important paralog of this gene is FLVCR2.

UniProtKB/Swiss-Prot Summary for C1orf194 Gene

  • May play an important role for the maintenance of myelin-axon integrity (By similarity). May affect intracellular Ca(2+) homeostasis (PubMed:31199454).

Additional gene information for C1orf194 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C1orf194 Gene

Genomics for C1orf194 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for C1orf194 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 C1orf194 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1orf194

Top Transcription factor binding sites by QIAGEN in the C1orf194 gene promoter:
  • AML1a
  • c-Myc
  • FOXF2
  • HNF-4alpha1
  • Lmo2
  • Max
  • Pax-4a
  • Pax-6
  • Sox9

Genomic Locations for C1orf194 Gene

Latest Assembly
chr1:109,105,951-109,113,857
(GRCh38/hg38)
Size:
7,907 bases
Orientation:
Minus strand

Previous Assembly
chr1:109,648,573-109,656,453
(GRCh37/hg19 by Entrez Gene)
Size:
7,881 bases
Orientation:
Minus strand

chr1:109,648,573-109,656,479
(GRCh37/hg19 by Ensembl)
Size:
7,907 bases
Orientation:
Minus strand

Genomic View for C1orf194 Gene

Genes around C1orf194 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf194 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf194 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for C1orf194 Gene

Proteins for C1orf194 Gene

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  • Protein details for C1orf194 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T5A4-CA194_HUMAN
    Recommended name:
    Protein C1orf194
    Protein Accession:
    Q5T5A4
    Secondary Accessions:
    • Q5T5A3

    Protein attributes for C1orf194 Gene

    Size:
    169 amino acids
    Molecular mass:
    19350 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C1orf194 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C1orf194 Gene

Protein Expression for C1orf194 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for C1orf194 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1orf194 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C1orf194 Gene

Domains & Families for C1orf194 Gene

Gene Families for C1orf194 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C1orf194 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1orf194 Gene

GenScript: Design optimal peptide antigens:
  • Chromosome 1 open reading frame 194 (B1ALJ6_HUMAN)
genes like me logo Genes that share domains with C1orf194: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C1orf194 Gene

Function for C1orf194 Gene

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  5. Clone products for research
  6. Cell Lines for research

Molecular function for C1orf194 Gene

UniProtKB/Swiss-Prot Function:
May play an important role for the maintenance of myelin-axon integrity (By similarity). May affect intracellular Ca(2+) homeostasis (PubMed:31199454).

Phenotypes From GWAS Catalog for C1orf194 Gene

Gene Ontology (GO) - Molecular Function for C1orf194 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015232 heme transporter activity IBA 21873635
GO:0020037 heme binding IBA 21873635
genes like me logo Genes that share ontologies with C1orf194: view
genes like me logo Genes that share phenotypes with C1orf194: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1orf194

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C1orf194 Gene

Localization for C1orf194 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1orf194 Gene

Cytoplasm. Cytoplasm, cytoskeleton.

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 C1orf194 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nuclear speckles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C1orf194 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 31199454
GO:0005856 cytoskeleton IEA,IDA 31199454
genes like me logo Genes that share ontologies with C1orf194: view

Pathways & Interactions for C1orf194 Gene

PathCards logo

SuperPathways for C1orf194 Gene

No Data Available

Interacting Proteins for C1orf194 Gene

Gene Ontology (GO) - Biological Process for C1orf194 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0097037 heme export IBA 21873635
genes like me logo Genes that share ontologies with C1orf194: view

No data available for Pathways by source and SIGNOR curated interactions for C1orf194 Gene

Drugs & Compounds for C1orf194 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for C1orf194 Gene

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mRNA/cDNA for C1orf194 Gene

5 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1orf194

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf194 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6
SP1: - - -
SP2:
SP3: -
SP4: - - - - -
SP5: - -

Relevant External Links for C1orf194 Gene

GeneLoc Exon Structure for
C1orf194

Expression for C1orf194 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C1orf194 Gene

mRNA expression in normal human tissues for C1orf194 Gene
mRNA expression by GTEx for C1orf194 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for C1orf194 Gene

This gene is overexpressed in Testis (x26.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C1orf194 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1orf194

SOURCE GeneReport for Unigene cluster for C1orf194 Gene:

Hs.446962

mRNA Expression by UniProt/SwissProt for C1orf194 Gene:

Q5T5A4-CA194_HUMAN
Tissue specificity: Expressed in cerebrum, cerebellum, gastrocnemius muscle, spinal cord and lung tissues.
genes like me logo Genes that share expression patterns with C1orf194: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1orf194 Gene

Orthologs for C1orf194 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1orf194 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia C1H1orf194 30
  • 92.78 (n)
C1orf194 31
  • 85 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia C6H1orf194 30
  • 84.08 (n)
C1orf194 31
  • 73 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia 1700013F07Rik 30 17 31
  • 81.96 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia C3H1orf194 30
  • 81.95 (n)
C1orf194 31
  • 71 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia RGD1309139 30
  • 79.59 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia C1orf194 31
  • 66 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia C1orf194 31
  • 57 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia C1orf194 31
  • 43 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100487688 30
  • 50.93 (n)
Zebrafish
(Danio rerio)
 Actinopterygii si:ch211-163l21.7 30
  • 53.99 (n)
C8H1orf194 31
  • 39 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 35 (a)
 OneToOne
Species where no ortholog for C1orf194 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)
  • Chicken (Gallus gallus)
  • 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 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 C1orf194 Gene

ENSEMBL:
Gene Tree for C1orf194 (if available)
TreeFam:
Gene Tree for C1orf194 (if available)

Paralogs for C1orf194 Gene

Paralogs for C1orf194 Gene

genes like me logo Genes that share paralogs with C1orf194: view

Variants for C1orf194 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1orf194 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1553246716 - p.Ile122Asn
rs1553246861 - p.Lys28Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C1orf194 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for C1orf194 Gene

Variant ID Type Subtype PubMed ID
esv3894001 CNV gain 25118596
nsv1008458 CNV gain 25217958
nsv831026 CNV loss 17160897
nsv930465 CNV insertion 23359205

Variation tolerance for C1orf194 Gene

Residual Variation Intolerance Score: 84.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.36; 63.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf194 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf194

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf194 Gene

Disorders for C1orf194 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C1orf194 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
charcot-marie-tooth disease
  • cmt - charcot-marie-tooth disease
tooth disease
  • teeth disease
high grade ependymoma
  • ependymal neoplasm
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CA194_HUMAN
  • Note=C1orf194 mutations may be the cause of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. Intermediate forms of Charcot-Marie-Tooth disease exist and are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269 PubMed:31199454}.

Additional Disease Information for C1orf194

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C1orf194: view

No data available for Genatlas for C1orf194 Gene

Publications for C1orf194 Gene

  1. Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease. (PMID: 31199454) Sun SC … Xu XM (Brain : a journal of neurology 2019) 2 3 4
  2. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. (PMID: 31586073) Capalbo L … D'Avino PP (Nature communications 2019) 3
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

ExternalLinks

View latest publications for C1orf194 gene in Mastermind

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