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
  • Uncharacterized Protein C1orf43 3 4
  • NS5ATP4 3 4
  • S863-3 3 4
  • NICE3 3 4
  • 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH01J154218 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 507.7 0.0 -22 5.2 HNRNPK ZBTB40 ZNF217 EP300 TCF12 MYC NRF1 POLR2G USF1 NCOR1 UBAP2L C1orf43 NONHSAG003007.2 SHC1 SLC27A3 THBS3 RPS27 KRTCAP2 CRTC2 SLC39A1
GH01J154270 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 5.8 -51.6 -51613 3.3 ZBTB40 ZNF217 CTCF TCF12 NRF1 POLR2G SP1 GTF2E2 PHF8 ZNF639 HAX1 HSALNG0007386 S100A4 C1orf43 NONHSAG003012.2 UBAP2L
GH01J154417 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 2.6 -200.3 -200282 6.7 EP300 FOXK2 ZNF217 TCF12 POLR2G NCOR1 JUND FOS ZNF639 ZIC2 IL6R TDRD10 FAM189B ENSG00000272654 CRTC2 ADAR UBAP2L KRTCAP2 S100A1 GATAD2B
GH01J154213 Enhancer 0.8 Ensembl ENCODE 5.8 +6.6 6596 2 FOS CREB1 PBX2 FOSL1 JUND TCF12 MAFG MEIS2 JUN KDM1A lnc-C1orf189-2 C1orf43 CREB3L4 lnc-C1orf189-1
GH01J154429 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.6 -211.7 -211679 5.8 ZNF217 FOS ZIC2 TCF7 KLF4 CTBP1 EP300 TAF9B ZNF316 CREB3L1 IL6R KCNN3 ADAR UBAP2L KRTCAP2 C1orf43 CRTC2 RF00017-356 piR-46391-002
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1orf43 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1orf43

Top Transcription factor binding sites by QIAGEN in the C1orf43 gene promoter:
  • AREB6
  • c-Myc
  • COUP
  • COUP-TF
  • COUP-TF1
  • E47
  • Hand1
  • HNF-4alpha1
  • Max1
  • Pax-4a

Genomic Locations for C1orf43 Gene

Genomic Locations for C1orf43 Gene
chr1:154,206,696-154,220,797
(GRCh38/hg38)
Size:
14,102 bases
Orientation:
Minus strand
chr1:154,179,182-154,193,273
(GRCh37/hg19)
Size:
14,092 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

    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

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:
  • S863-3 (CA043_HUMAN)
genes like me logo Genes that share domains with C1orf43: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C1orf43 Gene

Function for C1orf43 Gene

Phenotypes From GWAS Catalog for C1orf43 Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1orf43

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1
mitochondrion 0

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

PathCards logo

SuperPathways for C1orf43 Gene

No Data Available

Interacting Proteins for C1orf43 Gene

;

Gene Ontology (GO) - Biological Process for C1orf43 Gene

None

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

mRNA/cDNA for C1orf43 Gene

8 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
11 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 C1orf43

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

Expression for C1orf43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30
  • 99.6 (n)
C1orf43 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1orf43 31
  • 96 (a)
OneToOne
C7H1orf43 30
  • 91.96 (n)
cow
(Bos Taurus)
Mammalia -- 31
  • 96 (a)
OneToMany
C3H1orf43 30
  • 93.28 (n)
-- 31
  • 87 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia C1orf43 31
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4933434E20Rik 17 31 30
  • 89.72 (n)
rat
(Rattus norvegicus)
Mammalia LOC361985 30
  • 88.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C1orf43 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1orf43 31
  • 83 (a)
OneToOne
C25H1ORF43 30
  • 72.99 (n)
lizard
(Anolis carolinensis)
Reptilia C1orf43 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf43 30
  • 69.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16623 30
zebrafish
(Danio rerio)
Actinopterygii C16H1orf43 (2 of 2) 31
  • 75 (a)
OneToMany
zgc:123238 30
  • 63.65 (n)
C16H1orf43 (1 of 2) 31
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004471 30
  • 50.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6665 31 30
  • 47.62 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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:

  • CA043_HUMAN

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

Additional dbSNP identifiers (rs#s) for C1orf43 Gene

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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP 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 54
  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 54
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  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 54
  5. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3 54

Products for C1orf43 Gene

Sources for C1orf43 Gene