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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. 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.

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

Regulatory Elements for C1orf43 Gene

Enhancers for C1orf43 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G154218 1.4 ENCODE dbSUPER 7.8 +0.1 82 5.0 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 NFYC MEF2D HAX1 C1orf43 CREB3L4 S100A3 UBAP2L
GH01G154270 1.1 ENCODE 5.7 -51.6 -51613 3.3 HDGF PKNOX1 MLX ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 HAX1 CHTOP S100A4 EFNA4 DCST1 THBS3 SCAMP3 ENSG00000272030 SLC27A3 C1orf43
GH01G154429 2 FANTOM5 Ensembl ENCODE dbSUPER 2.6 -211.7 -211679 5.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 ZNF207 IL6R ADAR UBAP2L KRTCAP2 C1orf43 CRTC2 PSMD8P1 ENSG00000273110
GH01G154417 2 FANTOM5 Ensembl ENCODE dbSUPER 2.6 -200.3 -200282 6.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 IL6R TDRD10 CRTC2 ADAR UBAP2L KRTCAP2 S100A1 GATAD2B C1orf43 PSMD8P1
GH01G154167 0.4 dbSUPER 10.5 +52.9 52885 0.8 ZBTB49 PKNOX1 TPM3 MIR190B C1orf189 UBAP2L ENSG00000201129 RPL34P5 RPS27 RAB13 C1orf43 GC01M154167
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C1orf43 on UCSC Golden Path with GeneCards custom track

Promoters for C1orf43 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000013887 -103 3001 HDGF PKNOX1 MLX CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A FEZF1

Genomic Location for C1orf43 Gene

Chromosome:
1
Start:
154,206,701 bp from pter
End:
154,220,797 bp from pter
Size:
14,097 bases
Orientation:
Minus strand

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, Lys151, and Lys191
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C1orf43 Gene

Domains & Families for C1orf43 Gene

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 Gene Families and UniProtKB/Swiss-Prot for C1orf43 Gene

Function 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

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

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

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

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 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 34
  • 99.6 (n)
C1orf43 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 35
  • 96 (a)
OneToMany
C3H1orf43 34
  • 93.28 (n)
-- 35
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia C1orf43 35
  • 96 (a)
OneToOne
C7H1orf43 34
  • 91.96 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf43 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4933434E20Rik 34 16 35
  • 89.72 (n)
rat
(Rattus norvegicus)
Mammalia LOC361985 34
  • 88.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C1orf43 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1orf43 35
  • 83 (a)
OneToOne
C25H1ORF43 34
  • 72.99 (n)
lizard
(Anolis carolinensis)
Reptilia C1orf43 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf43 34
  • 69.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16623 34
zebrafish
(Danio rerio)
Actinopterygii C16H1orf43 (2 of 2) 35
  • 75 (a)
OneToMany
zgc:123238 34
  • 63.65 (n)
C16H1orf43 (1 of 2) 35
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004471 34
  • 50.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6665 34 35
  • 47.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs1000488447 -- 154,208,900(+) ATACC(A/G)CAATG intron-variant
rs1000674737 -- 154,208,977(+) TCCTG(A/C)CCTCA intron-variant
rs1000876453 -- 154,207,026(+) CTAAG(A/G)TGCCC upstream-variant-2KB, utr-variant-3-prime
rs1000972075 -- 154,212,874(+) CACCT(C/T)GTTGG intron-variant
rs1001040845 -- 154,218,291(+) TTTCC(A/T)AAGTG intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

Relevant External Links for C1orf43

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Res. 2001) 2 3 4 64
  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 Q.-H. … Chen Z. (Genome Res. 2000) 2 3 4 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for C1orf43 Gene

Sources for C1orf43 Gene

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