Aliases for C1orf127 Gene

Aliases for C1orf127 Gene

  • Chromosome 1 Open Reading Frame 127 2 3 5
  • Uncharacterized Protein C1orf127 3 4

External Ids for C1orf127 Gene

Previous GeneCards Identifiers for C1orf127 Gene

  • GC01M010941
  • GC01M010159
  • GC01M011006

Summaries for C1orf127 Gene

GeneCards Summary for C1orf127 Gene

C1orf127 (Chromosome 1 Open Reading Frame 127) is a Protein Coding gene.

Additional gene information for C1orf127 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 C1orf127 Gene

Genomics for C1orf127 Gene

GeneHancer (GH) Regulatory Elements for C1orf127 Gene

Promoters and enhancers for C1orf127 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
GH01J010978 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 750.6 +1.6 1599 3.4 CTCF CREB1 MIXL1 MYC RAD21 MAX ZNF121 MNT SP1 TFE3 C1orf127 FJ601684-005
GH01J010662 Promoter/Enhancer 2.7 VISTA UCNEbase FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 +305.6 305581 28.1 SP1 ZBTB40 ZBTB6 FOXA1 RBPJ POLR2A NR2F1 NR2F6 CREB1 MIXL1 TARDBP DFFA ENSG00000226849 FBXO44 CORT FBXO2 DISP3 KIF1B EXOSC10 C1orf127
GH01J011735 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.1 -754.4 -754448 4.2 ZBTB40 SREBF1 ZBTB6 LCORL MLX SMARCE1 POLR2A USF2 HCFC1 MYC AGTRAP lnc-MAD2L2-4 TARDBP TNFRSF1B ENSG00000226849 CLCN6 MAD2L2 DRAXIN EXOSC10 C1orf127
GH01J010964 Promoter/Enhancer 1.1 Ensembl ENCODE 16.4 +16.3 16318 2.4 ZNF24 MYC ELF1 HLF MAX ZKSCAN8 NKRF ELF3 CEBPG MLLT1 C1orf127 UBIAD1 TARDBP FJ601684-005
GH01J010734 Enhancer 1.6 VISTA UCNEbase ENCODE CraniofacialAtlas dbSUPER 10.2 +244.9 244867 5.7 ZNF362 GLIS2 RFX1 ZBTB33 PATZ1 ZNF561 ZBTB20 SCRT2 ZSCAN5C BMI1 C1orf127 RF00951-004 lnc-C1orf127-2 CASZ1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1orf127 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1orf127 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Elk-1
  • MyoD
  • Pax-5
  • POU3F2

Genomic Locations for C1orf127 Gene

Genomic Locations for C1orf127 Gene
chr1:10,946,471-10,982,037
(GRCh38/hg38)
Size:
35,567 bases
Orientation:
Minus strand
chr1:11,006,528-11,042,094
(GRCh37/hg19)
Size:
35,567 bases
Orientation:
Minus strand

Genomic View for C1orf127 Gene

Genes around C1orf127 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf127 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf127 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf127 Gene

Proteins for C1orf127 Gene

  • Protein details for C1orf127 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9H9-CA127_HUMAN
    Recommended name:
    Uncharacterized protein C1orf127
    Protein Accession:
    Q8N9H9
    Secondary Accessions:
    • A0AVG8
    • A6NKM7
    • Q5VXJ2

    Protein attributes for C1orf127 Gene

    Size:
    656 amino acids
    Molecular mass:
    69787 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C1orf127 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C1orf127 Gene

Post-translational modifications for C1orf127 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1orf127 Gene

No data available for DME Specific Peptides for C1orf127 Gene

Domains & Families for C1orf127 Gene

Gene Families for C1orf127 Gene

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

Protein Domains for C1orf127 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1orf127 Gene

GenScript: Design optimal peptide antigens:
  • C1orf127 protein (B7ZLG7_HUMAN)
  • C1orf127 protein (B7ZLG8_HUMAN)
  • C1orf127 protein (B7ZLG9_HUMAN)
genes like me logo Genes that share domains with C1orf127: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C1orf127 Gene

Function for C1orf127 Gene

Phenotypes From GWAS Catalog for C1orf127 Gene

genes like me logo Genes that share phenotypes with C1orf127: view

Animal Models for C1orf127 Gene

MGI Knock Outs for C1orf127:
  • Gm572 Gm572<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for C1orf127 Gene

Localization for C1orf127 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 C1orf127 gene
Compartment Confidence
mitochondrion 2
nucleus 0
cytosol 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C1orf127 Gene

Pathways & Interactions for C1orf127 Gene

PathCards logo

SuperPathways for C1orf127 Gene

No Data Available

Interacting Proteins for C1orf127 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000366203 Q8N9H9-CA127_HUMAN for C1orf127 Gene via STRING IID

Gene Ontology (GO) - Biological Process for C1orf127 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007507 heart development IBA 21873635
genes like me logo Genes that share ontologies with C1orf127: view

No data available for Pathways by source and SIGNOR curated interactions for C1orf127 Gene

Drugs & Compounds for C1orf127 Gene

No Compound Related Data Available

Transcripts for C1orf127 Gene

mRNA/cDNA for C1orf127 Gene

(3) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf127 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c
SP1: - - - -
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for C1orf127 Gene

GeneLoc Exon Structure for
C1orf127
ECgene alternative splicing isoforms for
C1orf127

Expression for C1orf127 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C1orf127 Gene

mRNA differential expression in normal tissues according to GTEx for C1orf127 Gene

This gene is overexpressed in Muscle - Skeletal (x16.3), Pancreas (x8.6), and Brain - Cerebellum (x5.1).

Protein differential expression in normal tissues from HIPED for C1orf127 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C1orf127 Gene



Protein tissue co-expression partners for C1orf127 Gene

NURSA nuclear receptor signaling pathways regulating expression of C1orf127 Gene:

C1orf127

SOURCE GeneReport for Unigene cluster for C1orf127 Gene:

Hs.127026
genes like me logo Genes that share expression patterns with C1orf127: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1orf127 Gene

Orthologs for C1orf127 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1orf127 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf127 32
  • 98.3 (n)
C1orf127 33
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm572 17 33 32
  • 77.93 (n)
rat
(Rattus norvegicus)
Mammalia LOC691354 32
  • 73.66 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf127 33
  • 60 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC101883649 32
  • 48.8 (n)
C23H1orf127 33
  • 34 (a)
OneToOne
Species where no ortholog for C1orf127 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C1orf127 Gene

ENSEMBL:
Gene Tree for C1orf127 (if available)
TreeFam:
Gene Tree for C1orf127 (if available)

Paralogs for C1orf127 Gene

No data available for Paralogs for C1orf127 Gene

Variants for C1orf127 Gene

Sequence variations from dbSNP and Humsavar for C1orf127 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000054692 -- 10,975,341(-) G/A/T genic_upstream_transcript_variant, intron_variant
rs1000184126 -- 10,960,337(-) G/A intron_variant
rs1000211439 -- 10,956,539(-) C/A intron_variant
rs1000272318 -- 10,954,838(-) C/T intron_variant
rs1000368192 -- 10,950,770(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C1orf127 Gene

Variant ID Type Subtype PubMed ID
esv2672799 CNV deletion 23128226
esv2758921 CNV loss 17122850
esv3350549 CNV duplication 20981092
esv3585209 CNV loss 21293372
nsv1120069 OTHER inversion 24896259
nsv508869 CNV insertion 20534489
nsv832425 CNV loss 17160897

Variation tolerance for C1orf127 Gene

Residual Variation Intolerance Score: 94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.24; 76.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf127 Gene

Human Gene Mutation Database (HGMD)
C1orf127
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf127

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf127 Gene

Disorders for C1orf127 Gene

Additional Disease Information for C1orf127

No disorders were found for C1orf127 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C1orf127 Gene

Publications for C1orf127 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 56
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  3. Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. (PMID: 22327514) Postel-Vinay S … Delattre O (Nature genetics 2012) 43 56
  4. Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. (PMID: 22693459) Li R … Richards JB (PLoS genetics 2012) 3 56
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56

Products for C1orf127 Gene

  • Biorbyt antibodies for C1orf127

Sources for C1orf127 Gene