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Aliases for C1orf123 Gene

Aliases for C1orf123 Gene

  • Chromosome 1 Open Reading Frame 123 2 3 5

External Ids for C1orf123 Gene

Previous GeneCards Identifiers for C1orf123 Gene

  • GC01M053392
  • GC01M053452
  • GC01M053679
  • GC01M051795

Summaries for C1orf123 Gene

GeneCards Summary for C1orf123 Gene

C1orf123 (Chromosome 1 Open Reading Frame 123) is a Protein Coding gene.

Additional gene information for C1orf123 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 C1orf123 Gene

Genomics for C1orf123 Gene

Regulatory Elements for C1orf123 Gene

Enhancers for C1orf123 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
GH01H053237 1.4 FANTOM5 ENCODE 28.6 -18.0 -17960 2 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 C1orf123 MAGOH NDC1 CYB5RL ZCCHC11 ENSG00000230953 SSBP3-AS1 ENSG00000236723 LINC01771 LRP8
GH01H053218 1.1 ENCODE 32.3 +0.4 393 2 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 C1orf123 PRPF38A ZCCHC11 GC01M053219 ENSG00000236723
GH01H053195 1.1 ENCODE 31.9 +23.4 23392 3 HDGF PKNOX1 FOXA2 ARNT SIN3A FEZF1 YY1 ZNF143 ZNF207 SP3 C1orf123 CPT2 PIR34935
GH01H054051 1.2 ENCODE 19.2 -832.5 -832516 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 MAGOH NDC1 ENSG00000228838 SSBP3-AS1 HSPB11 LRRC42 TCEANC2 PARS2 C1orf123 ENSG00000226938
GH01H053245 0.6 ENCODE 35.3 -26.1 -26054 1 PAF1 TBL1XR1 SP1 BCL11A MAFK CREM RUNX3 SPI1 C1orf123 CPT2 ENSG00000232762 GC01M053244 LOC105378728
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C1orf123 on UCSC Golden Path with GeneCards custom track

Promoters for C1orf123 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000006493 239 1201 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 SP3

Genomic Location for C1orf123 Gene

Chromosome:
1
Start:
53,214,099 bp from pter
End:
53,220,639 bp from pter
Size:
6,541 bases
Orientation:
Minus strand

Genomic View for C1orf123 Gene

Genes around C1orf123 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf123 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf123 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf123 Gene

Proteins for C1orf123 Gene

  • Protein details for C1orf123 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWV4-CA123_HUMAN
    Recommended name:
    UPF0587 protein C1orf123
    Protein Accession:
    Q9NWV4

    Protein attributes for C1orf123 Gene

    Size:
    160 amino acids
    Molecular mass:
    18048 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C1orf123 Gene

Post-translational modifications for C1orf123 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1orf123 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C1orf123 Gene

Domains & Families for C1orf123 Gene

Gene Families for C1orf123 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C1orf123 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1orf123 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NWV4

UniProtKB/Swiss-Prot:

CA123_HUMAN :
  • Belongs to the UPF0587 family.
Family:
  • Belongs to the UPF0587 family.
genes like me logo Genes that share domains with C1orf123: view

Function for C1orf123 Gene

Gene Ontology (GO) - Molecular Function for C1orf123 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with C1orf123: view
genes like me logo Genes that share phenotypes with C1orf123: view

Animal Model Products

CRISPR Products

miRNA for C1orf123 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C1orf123
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C1orf123 Gene

Localization for C1orf123 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 C1orf123 gene
Compartment Confidence
extracellular 5
cytosol 3
plasma membrane 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C1orf123 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with C1orf123: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C1orf123 Gene

Pathways & Interactions for C1orf123 Gene

SuperPathways for C1orf123 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C1orf123 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with C1orf123: view

No data available for Pathways by source and SIGNOR curated interactions for C1orf123 Gene

Drugs & Compounds for C1orf123 Gene

No Compound Related Data Available

Transcripts for C1orf123 Gene

Unigene Clusters for C1orf123 Gene

Chromosome 1 open reading frame 123:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C1orf123
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf123 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5: -
SP6:
SP7: -

Relevant External Links for C1orf123 Gene

GeneLoc Exon Structure for
C1orf123
ECgene alternative splicing isoforms for
C1orf123

Expression for C1orf123 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C1orf123 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C1orf123 Gene



Protein tissue co-expression partners for C1orf123 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C1orf123 Gene:

C1orf123

SOURCE GeneReport for Unigene cluster for C1orf123 Gene:

Hs.525391

Evidence on tissue expression from TISSUES for C1orf123 Gene

  • Nervous system(4.7)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with C1orf123: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1orf123 Gene

Orthologs for C1orf123 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for C1orf123 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf123 33
  • 100 (n)
-- 34
  • 100 (a)
OneToMany
-- 34
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia C3H1orf123 33 34
  • 91.67 (n)
mouse
(Mus musculus)
Mammalia 0610037L13Rik 33 16 34
  • 91.56 (n)
dog
(Canis familiaris)
Mammalia C5H1orf123 33
  • 91.25 (n)
C1orf123 34
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1559786 33
  • 90.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C1orf123 34
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C1orf123 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1orf123 34
  • 84 (a)
OneToOne
C8H1ORF123 33
  • 79.58 (n)
lizard
(Anolis carolinensis)
Reptilia C1orf123 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497300 33
  • 75 (n)
zebrafish
(Danio rerio)
Actinopterygii C2H1orf123 34
  • 82 (a)
OneToOne
si:ch211-284b7.3 33
  • 74.79 (n)
Dr.23495 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10583 33
fruit fly
(Drosophila melanogaster)
Insecta CG4646 33 34
  • 55.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003919 33
  • 54.09 (n)
worm
(Caenorhabditis elegans)
Secernentea F46B6.12 33 34
  • 55.27 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10153g 33
  • 46 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL238W 33
  • 43.61 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YCR090C 33
  • 43.01 (n)
-- 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G32930 33
  • 50.85 (n)
rice
(Oryza sativa)
Liliopsida Os01g0565600 33
  • 52.69 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08505 33
  • 51.9 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC2D10.03c 33
  • 49.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToOne
Species where no ortholog for C1orf123 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for C1orf123 Gene

ENSEMBL:
Gene Tree for C1orf123 (if available)
TreeFam:
Gene Tree for C1orf123 (if available)

Paralogs for C1orf123 Gene

Pseudogenes.org Pseudogenes for C1orf123 Gene

genes like me logo Genes that share paralogs with C1orf123: view

No data available for Paralogs for C1orf123 Gene

Variants for C1orf123 Gene

Sequence variations from dbSNP and Humsavar for C1orf123 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs14829 Likely benign 53,214,202(+) AGATG(A/G/T)TTCTT downstream-variant-500B, utr-variant-3-prime
rs886046410 Uncertain significance 53,214,034(+) TAAAT(C/T)CATGG downstream-variant-500B, utr-variant-3-prime
rs886046411 Uncertain significance 53,214,195(+) GCTTG(-/AAG)AAGAT utr-variant-3-prime
rs1056438 Benign 53,214,206(-) AATTA(A/G)GAACC downstream-variant-500B, utr-variant-3-prime
rs1000367395 -- 53,221,844(+) GAAGA(C/G)GGTAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C1orf123 Gene

Variant ID Type Subtype PubMed ID
esv2422213 CNV duplication 17116639
nsv1001535 CNV gain 25217958
nsv829871 CNV loss 17160897

Variation tolerance for C1orf123 Gene

Residual Variation Intolerance Score: 33.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C1orf123 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf123

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf123 Gene

Disorders for C1orf123 Gene

Relevant External Links for C1orf123

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C1orf123

No disorders were found for C1orf123 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C1orf123 Gene

Publications for C1orf123 Gene

  1. Cloning, expression, purification, crystallization and X-ray crystallographic analysis of recombinant human C1ORF123 protein. (PMID: 26919524) Rahaman SN … Ng CL (Acta crystallographica. Section F, Structural biology communications 2016) 2 3 60
  2. Integrated genomics and proteomics of the Torpedo californica electric organ: concordance with the mammalian neuromuscular junction. (PMID: 21798097) Mate SE … Hoffman EP (Skeletal muscle 2011) 2 3 60
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. 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 60

Products for C1orf123 Gene

Sources for C1orf123 Gene

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