Aliases for C1orf87 Gene

Aliases for C1orf87 Gene

  • Chromosome 1 Open Reading Frame 87 2 3 5
  • Carcinoma-Related EF-Hand Protein 2 3
  • Uncharacterized Protein C1orf87 3 4
  • CREF 2 3
  • MGC34837 2
  • C1orf87 5

External Ids for C1orf87 Gene

Previous GeneCards Identifiers for C1orf87 Gene

  • GC01M060169
  • GC01M060228
  • GC01M060452
  • GC01M058567

Summaries for C1orf87 Gene

GeneCards Summary for C1orf87 Gene

C1orf87 (Chromosome 1 Open Reading Frame 87) is a Protein Coding gene. Diseases associated with C1orf87 include Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 and Spinal Muscular Atrophy, Distal, X-Linked 3. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

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 C1orf87 Gene

Genomics for C1orf87 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C1orf87 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
GH01J060132 Promoter/Enhancer 1.2 EPDnew FANTOM5 Ensembl ENCODE 261.1 -59.7 -59731 1.8 SPI1 MAX JUND ZNF652 POLR2A EP300 CEBPG C1orf87 HSALNG0003994 LOC107984963 LINC02778 HSALNG0003992 NFIA
GH01J060074 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 250.7 0.0 -31 0.8 SIN3A KLF7 SP2 TAF1 RFX1 KLF1 KLF10 SP3 POLR2A C1orf87 PGBD4P8 lnc-HOOK1-8 NFIA
GH01J060008 Promoter 0.5 EPDnew 250.2 +64.8 64812 0.1 MNT RAD51 C1orf87 lnc-HOOK1-8 piR-39858-028 CYP2J2
GH01J059966 Enhancer 1 Ensembl ENCODE 10.2 +106.5 106458 1.1 TBP IKZF1 BHLHE40 ARNT ZNF395 NBN ZEB2 TAL1 NCOR1 TARDBP lnc-C1orf87-1 piR-33422-006 C1orf87 CYP2J2 HOOK1 HSALNG0003986
GH01J060265 Enhancer 0.9 Ensembl ENCODE 10.1 -192.5 -192535 1.1 CEBPA FOXA2 SMAD4 RXRA RARA ZBTB33 BCL6 JUND SOX5 HMG20A C1orf87 LOC107984962 HSALNG0003992 LOC105378761 lnc-HOOK1-3 LINC02778 NFIA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1orf87 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1orf87

Top Transcription factor binding sites by QIAGEN in the C1orf87 gene promoter:
  • AML1a
  • ATF-2
  • Brachyury
  • C/EBPbeta
  • GR
  • GR-alpha
  • HFH-1
  • LCR-F1
  • NF-1
  • Pax-4a

Genomic Locations for C1orf87 Gene

Latest Assembly
chr1:59,987,269-60,073,770
(GRCh38/hg38)
Size:
86,502 bases
Orientation:
Minus strand

Previous Assembly
chr1:60,456,066-60,539,442
(GRCh37/hg19 by Entrez Gene)
Size:
83,377 bases
Orientation:
Minus strand

chr1:60,452,941-60,539,442
(GRCh37/hg19 by Ensembl)
Size:
86,502 bases
Orientation:
Minus strand

Genomic View for C1orf87 Gene

Genes around C1orf87 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf87 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf87 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf87 Gene

Proteins for C1orf87 Gene

  • Protein details for C1orf87 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N0U7-CA087_HUMAN
    Recommended name:
    Uncharacterized protein C1orf87
    Protein Accession:
    Q8N0U7
    Secondary Accessions:
    • Q6ZU07
    • Q8IVS0

    Protein attributes for C1orf87 Gene

    Size:
    546 amino acids
    Molecular mass:
    62035 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C1orf87 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C1orf87 Gene

Post-translational modifications for C1orf87 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1orf87 Gene

No data available for DME Specific Peptides for C1orf87 Gene

Domains & Families for C1orf87 Gene

Gene Families for C1orf87 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C1orf87 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C1orf87: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C1orf87 Gene

Function for C1orf87 Gene

Phenotypes From GWAS Catalog for C1orf87 Gene

genes like me logo Genes that share phenotypes with C1orf87: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1orf87

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C1orf87 Gene

Localization for C1orf87 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 C1orf87 gene
Compartment Confidence
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

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 C1orf87 Gene

Pathways & Interactions for C1orf87 Gene

PathCards logo

SuperPathways for C1orf87 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C1orf87 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C1orf87 Gene

Drugs & Compounds for C1orf87 Gene

No Compound Related Data Available

Transcripts for C1orf87 Gene

mRNA/cDNA for C1orf87 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1orf87

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf87 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b · 14c · 14d ^ 15 ^ 16
SP1: - - - -
SP2:
SP3: - - -
SP4: - - - -
SP5: -

Relevant External Links for C1orf87 Gene

GeneLoc Exon Structure for
C1orf87

Expression for C1orf87 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C1orf87 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C1orf87 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x9.0), Testis (x7.7), Brain - Hypothalamus (x6.3), Fallopian Tube (x5.2), and Brain - Nucleus accumbens (basal ganglia) (x5.0).

Protein differential expression in normal tissues from HIPED for C1orf87 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C1orf87 Gene



Protein tissue co-expression partners for C1orf87 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1orf87

SOURCE GeneReport for Unigene cluster for C1orf87 Gene:

Hs.47385

Evidence on tissue expression from TISSUES for C1orf87 Gene

  • Lung(2.7)
genes like me logo Genes that share expression patterns with C1orf87: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1orf87 Gene

Orthologs for C1orf87 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C1orf87 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C1H1orf87 30
  • 99.63 (n)
C1orf87 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C3H1orf87 30
  • 82.91 (n)
C1orf87 31
  • 75 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C5H1orf87 30
  • 81.8 (n)
C1ORF87 31
  • 73 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1560146 30
  • 76 (n)
Mouse
(Mus musculus)
Mammalia Gm12695 30 17 31
  • 75.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C1orf87 31
  • 51 (a)
OneToOne
Species where no ortholog for C1orf87 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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)
  • Zebrafish (Danio rerio)

Evolution for C1orf87 Gene

ENSEMBL:
Gene Tree for C1orf87 (if available)
TreeFam:
Gene Tree for C1orf87 (if available)

Paralogs for C1orf87 Gene

No data available for Paralogs for C1orf87 Gene

Variants for C1orf87 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1orf87 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs114035967 Benign: not provided 59,990,819(-) C/A
NM_152377.3(C1orf87):c.1495G>T (p.Glu499Ter)
NONSENSE
VAR_035493 A breast cancer sample p.Gln151Glu
rs12737449 - p.Leu185Val
rs17120025 - p.Asn301Asp
rs35260089 - p.Ala406Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C1orf87 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for C1orf87 Gene

Variant ID Type Subtype PubMed ID
dgv98e59 CNV tandem duplication 20981092
esv1587281 CNV insertion 17803354
esv2675852 CNV deletion 23128226
esv3306878 CNV mobile element insertion 20981092
esv3372359 CNV insertion 20981092
esv3438840 CNV duplication 20981092
esv3586198 CNV loss 21293372
nsv1013226 CNV gain 25217958
nsv1111001 CNV tandem duplication 24896259
nsv478542 CNV novel sequence insertion 20440878

Variation tolerance for C1orf87 Gene

Residual Variation Intolerance Score: 92.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.90; 79.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf87 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf87

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf87 Gene

Disorders for C1orf87 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C1orf87 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C1orf87

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C1orf87: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C1orf87 Gene

Publications for C1orf87 Gene

  1. Open reading frames associated with cancer in the dark matter of the human genome. (PMID: 25048349) Delgado AP … Narayanan R (Cancer genomics & proteomics 2014) 2 3
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  4. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. (PMID: 29513927) Tomkins JE … Manzoni C (Proteomics 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for C1orf87 Gene

Sources for C1orf87 Gene