Aliases for C1orf131 Gene

Aliases for C1orf131 Gene

  • Chromosome 1 Open Reading Frame 131 2 3 5
  • Uncharacterized Protein C1orf131 3 4
  • CPERP-A 4

External Ids for C1orf131 Gene

Previous GeneCards Identifiers for C1orf131 Gene

  • GC01M227667
  • GC01M229429
  • GC01M231359
  • GC01M201842

Summaries for C1orf131 Gene

GeneCards Summary for C1orf131 Gene

C1orf131 (Chromosome 1 Open Reading Frame 131) is a Protein Coding gene.

Additional gene information for C1orf131 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 C1orf131 Gene

Genomics for C1orf131 Gene

GeneHancer (GH) Regulatory Elements for C1orf131 Gene

Promoters and enhancers for C1orf131 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
GH01J231240 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 761.2 -0.4 -414 3.6 SIN3A ZBTB40 ZBTB6 RBPJ POLR2A CREB1 HCFC1 MYC ELF1 HLF GNPAT C1orf131 RF00017-509
GH01J230976 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 55.1 +262.4 262386 4 SIN3A ZNF24 SP1 ZBTB40 CTCF SIX5 RBPJ SMARCE1 POLR2A ATF1 TTC13 ARV1 C1orf131 SPRTN TRIM67 COG2 EXOC8 FAM89A ENSG00000223393 HSALNG0011415
GH01J231527 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 40.2 -287.9 -287862 3.9 SIN3A SP1 ZBTB40 SIX5 ZBTB6 MLX RBPJ SMARCE1 POLR2A CTBP1 TSNAX ENSG00000233461 ENSG00000287856 TSNAX-DISC1 EGLN1 C1orf131 COG2 SPRTN DISC1 GNPAT
GH01J231037 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 37.7 +201.7 201686 4 FOXK2 SIN3A ZBTB40 SMARCE1 CTBP1 CC2D1A ELF1 ZFP41 L3MBTL2 ZNF121 FAM89A C1orf131 ARV1 SPRTN COG2 ENSG00000227934 lnc-TTC13-2
GH01J231625 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 24.6 -386.3 -386320 3.4 ZNF785 ZBTB6 RBPJ TCF7L2 NR2F6 ATF1 CREB1 MIXL1 ZNF362 ZNF133 DISC1 C1orf131 SPRTN ARV1 COG2 RF00017-511 TSNAX-DISC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1orf131 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1orf131 gene promoter:
  • AREB6
  • CREB
  • deltaCREB
  • Ik-3
  • ISGF-3
  • LCR-F1
  • Pax-4a
  • Pax-5
  • RFX1

Genomic Locations for C1orf131 Gene

Genomic Locations for C1orf131 Gene
chr1:231,223,763-231,241,187
(GRCh38/hg38)
Size:
17,425 bases
Orientation:
Minus strand
chr1:231,359,509-231,376,933
(GRCh37/hg19)
Size:
17,425 bases
Orientation:
Minus strand

Genomic View for C1orf131 Gene

Genes around C1orf131 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf131 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf131 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf131 Gene

Proteins for C1orf131 Gene

  • Protein details for C1orf131 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDD1-CA131_HUMAN
    Recommended name:
    Uncharacterized protein C1orf131
    Protein Accession:
    Q8NDD1
    Secondary Accessions:
    • Q5TBI0
    • Q5TBI1
    • Q6P6B4
    • Q7Z6H5
    • Q8N432
    • Q96NM6

    Protein attributes for C1orf131 Gene

    Size:
    293 amino acids
    Molecular mass:
    32610 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C1orf131 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C1orf131 Gene

Post-translational modifications for C1orf131 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1orf131 Gene

No data available for DME Specific Peptides for C1orf131 Gene

Domains & Families for C1orf131 Gene

Gene Families for C1orf131 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C1orf131 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1orf131 Gene

GenScript: Design optimal peptide antigens:
  • Chromosome 1 open reading frame 131 (Q5TBI2_HUMAN)
genes like me logo Genes that share domains with C1orf131: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C1orf131 Gene

Function for C1orf131 Gene

Phenotypes From GWAS Catalog for C1orf131 Gene

Gene Ontology (GO) - Molecular Function for C1orf131 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
genes like me logo Genes that share ontologies with C1orf131: view
genes like me logo Genes that share phenotypes with C1orf131: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C1orf131 Gene

Localization for C1orf131 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1orf131 Gene

Chromosome.

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 C1orf131 gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 0
cytoskeleton 0
mitochondrion 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C1orf131 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005694 chromosome IEA,IDA 20813266
genes like me logo Genes that share ontologies with C1orf131: view

Pathways & Interactions for C1orf131 Gene

PathCards logo

SuperPathways for C1orf131 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C1orf131 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C1orf131 Gene

Drugs & Compounds for C1orf131 Gene

No Compound Related Data Available

Transcripts for C1orf131 Gene

mRNA/cDNA for C1orf131 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf131 Gene

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

Relevant External Links for C1orf131 Gene

GeneLoc Exon Structure for
C1orf131
ECgene alternative splicing isoforms for
C1orf131

Expression for C1orf131 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C1orf131 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C1orf131 Gene

This gene is overexpressed in Platelet (54.6) and Blymphocyte (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C1orf131 Gene



Protein tissue co-expression partners for C1orf131 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C1orf131 Gene:

C1orf131

SOURCE GeneReport for Unigene cluster for C1orf131 Gene:

Hs.743464

Evidence on tissue expression from TISSUES for C1orf131 Gene

  • Nervous system(4.6)
  • Eye(4)
  • Pancreas(2.4)
genes like me logo Genes that share expression patterns with C1orf131: 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 C1orf131 Gene

Orthologs for C1orf131 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1orf131 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf131 32
  • 98.98 (n)
C1orf131 33
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C4H1orf131 32
  • 82.69 (n)
C1orf131 33
  • 75 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC514234 32
  • 80.26 (n)
C1orf131 33
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1562218 32
  • 76.21 (n)
mouse
(Mus musculus)
Mammalia 2810004N23Rik 17 33 32
  • 74.58 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf131 33
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1ORF131 32
  • 57.54 (n)
C1orf131 33
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1orf131 33
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf131 32
  • 53.69 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:194224 32
  • 54.55 (n)
C20H1orf131 33
  • 35 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1442 32
Species where no ortholog for C1orf131 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C1orf131 Gene

ENSEMBL:
Gene Tree for C1orf131 (if available)
TreeFam:
Gene Tree for C1orf131 (if available)

Paralogs for C1orf131 Gene

No data available for Paralogs for C1orf131 Gene

Variants for C1orf131 Gene

Sequence variations from dbSNP and Humsavar for C1orf131 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs112452735 likely-benign, Rhizomelic chondrodysplasia punctata 231,241,295(-) C/G/T upstream_transcript_variant
rs113480953 benign, likely-benign, not specified, Rhizomelic chondrodysplasia punctata 231,241,404(-) C/T upstream_transcript_variant
rs113752547 uncertain-significance, Rhizomelic chondrodysplasia punctata 231,241,234(-) G/A/C upstream_transcript_variant
rs199844062 uncertain-significance, Rhizomelic chondrodysplasia punctata 231,241,435(-) C/T upstream_transcript_variant
rs201907247 uncertain-significance, not-provided, Rhizomelic chondrodysplasia punctata, not provided 231,241,332(-) C/A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C1orf131 Gene

Variant ID Type Subtype PubMed ID
esv3589093 CNV gain 21293372
esv3589106 CNV gain 21293372
nsv1000488 CNV gain 25217958
nsv1011066 CNV gain 25217958

Variation tolerance for C1orf131 Gene

Residual Variation Intolerance Score: 63.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.32; 62.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf131 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf131

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf131 Gene

Disorders for C1orf131 Gene

Additional Disease Information for C1orf131

No disorders were found for C1orf131 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C1orf131 Gene

Publications for C1orf131 Gene

  1. The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics. (PMID: 20813266) Ohta S … Rappsilber J (Cell 2010) 3 4 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 56
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 56

Products for C1orf131 Gene

Sources for C1orf131 Gene