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Aliases for C1orf43 Gene

Aliases for C1orf43 Gene

  • Chromosome 1 Open Reading Frame 43 2 3 5
  • Hepatitis C Virus NS5A-Transactivated Protein 4 3 4
  • HCV NS5A-Transactivated Protein 4 3 4
  • NS5ATP4 3 4
  • S863-3 3 4
  • NICE3 3 4
  • Uncharacterized Protein C1orf43 3
  • Protein NICE-3 4
  • HSPC012 3
  • NICE-3 3

External Ids for C1orf43 Gene

Previous GeneCards Identifiers for C1orf43 Gene

  • GC01M150992
  • GC01M152445
  • GC01M154179
  • GC01M125542

Summaries for C1orf43 Gene

GeneCards Summary for C1orf43 Gene

C1orf43 (Chromosome 1 Open Reading Frame 43) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and coenzyme binding.

Additional gene information for C1orf43 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C1orf43 Gene

Genomics for C1orf43 Gene

GeneHancer (GH) Regulatory Elements for C1orf43 Gene

Promoters and enhancers for C1orf43 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
GH01I154218 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 557.8 +0.1 82 5 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 NFYC UBAP2L C1orf43 CREB3L4 CHTOP INTS3 THBS3 SLC27A3 KRTCAP2 CRTC2 SHC1
GH01I154270 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 5.7 -51.6 -51613 3.3 HDGF FOXA2 PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 HAX1 CHTOP CRTC2 CREB3L4 SHC1 UBAP2L THBS3 INTS3 S100A4 RPS27
GH01I154417 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 2.6 -200.3 -200282 6.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 IL6R TDRD10 FAM189B ENSG00000272654 CRTC2 ADAR UBAP2L KRTCAP2 S100A1 GATAD2B
GH01I154429 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.7 -211.7 -211679 5.8 PKNOX1 ATF1 FOS ATF7 GMEB1 SMARCA4 ZNF184 KDM1A SP7 MEIS2 IL6R ADAR UBAP2L KRTCAP2 C1orf43 CRTC2 PSMD8P1 ENSG00000273110
GH01I154425 Enhancer 0.9 FANTOM5 Ensembl dbSUPER 2.4 -204.6 -204604 0.4 JUND CEBPB EP300 TCF7L2 IL6R UBAP2L ADAR C1orf43 CRTC2 PSMD8P1 ENSG00000273110
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C1orf43 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1orf43 gene promoter:

Genomic Locations for C1orf43 Gene

Genomic Locations for C1orf43 Gene
chr1:154,206,701-154,220,797
(GRCh38/hg38)
Size:
14,097 bases
Orientation:
Minus strand
chr1:154,179,182-154,193,273
(GRCh37/hg19)

Genomic View for C1orf43 Gene

Genes around C1orf43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf43 Gene

Proteins for C1orf43 Gene

  • Protein details for C1orf43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BWL3-CA043_HUMAN
    Recommended name:
    Uncharacterized protein C1orf43
    Protein Accession:
    Q9BWL3
    Secondary Accessions:
    • A8K3G8
    • D3DV72
    • D3DV74
    • Q5M801
    • Q5VU73
    • Q5VU83
    • Q96HP7
    • Q9UFU2
    • Q9UGL7
    • Q9UGL8
    • Q9Y2R6

    Protein attributes for C1orf43 Gene

    Size:
    253 amino acids
    Molecular mass:
    28779 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAH71276.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for C1orf43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C1orf43 Gene

Post-translational modifications for C1orf43 Gene

  • Ubiquitination at Lys73, posLast=151151, and Lys191
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C1orf43 Gene

Domains & Families for C1orf43 Gene

Gene Families for C1orf43 Gene

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

Protein Domains for C1orf43 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1orf43 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C1orf43: view

No data available for UniProtKB/Swiss-Prot for C1orf43 Gene

Function for C1orf43 Gene

Phenotypes From GWAS Catalog for C1orf43 Gene

Gene Ontology (GO) - Molecular Function for C1orf43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with C1orf43: view
genes like me logo Genes that share phenotypes with C1orf43: view

Animal Models for C1orf43 Gene

MGI Knock Outs for C1orf43:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C1orf43 Gene

Localization for C1orf43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1orf43 Gene

Membrane; Single-pass membrane protein.

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 C1orf43 gene
Compartment Confidence
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for C1orf43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C1orf43: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C1orf43 Gene

Pathways & Interactions for C1orf43 Gene

SuperPathways for C1orf43 Gene

No Data Available

Interacting Proteins for C1orf43 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000357507%0d%0a9606.ENSP00000340969%0d%0a
Selected Interacting proteins: Q9BWL3-CA043_HUMAN ENSP00000357507 for C1orf43 Gene via IID STRING

Gene Ontology (GO) - Biological Process for C1orf43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with C1orf43: view

No data available for Pathways by source and SIGNOR curated interactions for C1orf43 Gene

Drugs & Compounds for C1orf43 Gene

No Compound Related Data Available

Transcripts for C1orf43 Gene

Unigene Clusters for C1orf43 Gene

Chromosome 1 open reading frame 43:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf43 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b · 7c · 7d · 7e ·
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - -
SP6: - - - - - -
SP7: - - - - - - -
SP8: - - -
SP9: - - - - - - -
SP10: - - - - - - - -
SP11: - - -
SP12: - - - - - - -
SP13: - - - - - - - -
SP14: - - -
SP15:

ExUns: 7f · 7g · 7h · 7i
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for C1orf43 Gene

GeneLoc Exon Structure for
C1orf43
ECgene alternative splicing isoforms for
C1orf43

Expression for C1orf43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C1orf43 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C1orf43 Gene

This gene is overexpressed in Pancreas (53.1) and Retina (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C1orf43 Gene



Protein tissue co-expression partners for C1orf43 Gene

NURSA nuclear receptor signaling pathways regulating expression of C1orf43 Gene:

C1orf43

SOURCE GeneReport for Unigene cluster for C1orf43 Gene:

Hs.287471

Evidence on tissue expression from TISSUES for C1orf43 Gene

  • Nervous system(4.9)
  • Lung(4.8)
  • Skin(4.7)
  • Kidney(4.4)
  • Blood(4.3)
  • Pancreas(3.3)
  • Eye(3.1)
  • Intestine(2.6)
  • Muscle(2.3)
  • Liver(2.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with C1orf43: view

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 C1orf43 Gene

Orthologs for C1orf43 Gene

This gene was present in the common ancestor of animals.

Orthologs for C1orf43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf43 33
  • 99.6 (n)
C1orf43 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 34
  • 96 (a)
OneToMany
C3H1orf43 33
  • 93.28 (n)
-- 34
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia C1orf43 34
  • 96 (a)
OneToOne
C7H1orf43 33
  • 91.96 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf43 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4933434E20Rik 33 16 34
  • 89.72 (n)
rat
(Rattus norvegicus)
Mammalia LOC361985 33
  • 88.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C1orf43 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1orf43 34
  • 83 (a)
OneToOne
C25H1ORF43 33
  • 72.99 (n)
lizard
(Anolis carolinensis)
Reptilia C1orf43 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf43 33
  • 69.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16623 33
zebrafish
(Danio rerio)
Actinopterygii C16H1orf43 (2 of 2) 34
  • 75 (a)
OneToMany
zgc:123238 33
  • 63.65 (n)
C16H1orf43 (1 of 2) 34
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004471 33
  • 50.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6665 33 34
  • 47.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToOne
Species where no ortholog for C1orf43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 C1orf43 Gene

ENSEMBL:
Gene Tree for C1orf43 (if available)
TreeFam:
Gene Tree for C1orf43 (if available)

Paralogs for C1orf43 Gene

(1) SIMAP similar genes for C1orf43 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for C1orf43 Gene

genes like me logo Genes that share paralogs with C1orf43: view

No data available for Paralogs for C1orf43 Gene

Variants for C1orf43 Gene

Sequence variations from dbSNP and Humsavar for C1orf43 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000488447 -- 154,208,900(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000674737 -- 154,208,977(-) A/C genic_downstream_transcript_variant, intron_variant
rs1000876453 -- 154,207,026(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000972075 -- 154,212,874(-) T/C intron_variant
rs1001040845 -- 154,218,291(-) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C1orf43 Gene

Variant ID Type Subtype PubMed ID
nsv2954 CNV insertion 18451855

Variation tolerance for C1orf43 Gene

Residual Variation Intolerance Score: 29.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf43 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf43 Gene

Disorders for C1orf43 Gene

Additional Disease Information for C1orf43

No disorders were found for C1orf43 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C1orf43 Gene

Publications for C1orf43 Gene

  1. Identification of human epidermal differentiation complex (EDC)-encoded genes by subtractive hybridization of entire YACs to a gridded keratinocyte cDNA library. (PMID: 11230159) Marenholz I … Mischke D (Genome research 2001) 2 3 4 58
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for C1orf43 Gene

Sources for C1orf43 Gene

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