Aliases for C1orf116 Gene

Aliases for C1orf116 Gene

  • Chromosome 1 Open Reading Frame 116 2 3 5
  • Specifically Androgen-Regulated Gene Protein 3 4
  • Specifically Androgen-Regulated Protein 3
  • Specifically Androgen-Regulated Gene 2
  • SARG 3

External Ids for C1orf116 Gene

Previous GeneCards Identifiers for C1orf116 Gene

  • GC01M203581
  • GC01M205258
  • GC01M207191
  • GC01M177889

Summaries for C1orf116 Gene

GeneCards Summary for C1orf116 Gene

C1orf116 (Chromosome 1 Open Reading Frame 116) is a Protein Coding gene. Diseases associated with C1orf116 include Fibrosarcomatous Osteosarcoma.

UniProtKB/Swiss-Prot Summary for C1orf116 Gene

Additional gene information for C1orf116 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C1orf116 Gene

Genomics for C1orf116 Gene

GeneHancer (GH) Regulatory Elements for C1orf116 Gene

Promoters and enhancers for C1orf116 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
GH01J207017 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 506.5 +6.1 6093 18.4 ZNF217 TCF12 POLR2G NCOR1 GTF2E2 JUND FOS TEAD4 PHB2 SNRNP70 C1orf116 C4BPA C4BPB FCAMR PIGR FCMR IL20 PFKFB2 lnc-PFKFB2-2
GH01J207048 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -20.2 -20182 9.7 ZNF217 EP300 CTCF TCF12 SIN3A NRF1 POLR2G USF1 GTF2E2 PHF8 PFKFB2 YOD1 EIF2D MAPKAPK2 ENSG00000234981 C1orf116 CD46 CR1 lnc-C4BPB-1
GH01J206734 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.6 +294.9 294860 7.4 ZBTB40 CTCF SP1 PHB2 ZBTB11 AFF1 TARDBP REST HES1 MEF2C MAPKAPK2 FCMR IL19 IL10 PIGR IL20 IL24 C1orf116 DYRK3 CD55
GH01J206907 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 9.5 +123.5 123514 2.5 ZNF217 GTF2E2 ZFX CTCF ZIC2 ZBTB10 POLR2A ZBTB26 ZNF510 RFX1 ENSG00000226945 RPL13AP8 piR-46238-001 CDCA4P4 ENSG00000271680 PIGR IL20 FCAMR EIF2D IL19
GH01J206966 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 9.7 +61.9 61903 7.9 EP300 RELA TOE1 BCL11A NR2F2 ZNF316 MAFF USF1 GABPA CEBPG FCAMR lnc-PIGR-4 PIGR FCMR IL20 IL24 IL10 MAPKAPK2 IL19 ENSG00000271680
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1orf116 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1orf116

Top Transcription factor binding sites by QIAGEN in the C1orf116 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HSF2
  • HTF
  • Msx-1
  • STAT5A

Genomic Locations for C1orf116 Gene

Genomic Locations for C1orf116 Gene
chr1:207,018,521-207,032,761
(GRCh38/hg38)
Size:
14,241 bases
Orientation:
Minus strand
chr1:207,191,866-207,206,101
(GRCh37/hg19)
Size:
14,236 bases
Orientation:
Minus strand

Genomic View for C1orf116 Gene

Genes around C1orf116 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf116 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf116 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf116 Gene

Proteins for C1orf116 Gene

  • Protein details for C1orf116 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BW04-SARG_HUMAN
    Recommended name:
    Specifically androgen-regulated gene protein
    Protein Accession:
    Q9BW04
    Secondary Accessions:
    • C9JV41
    • Q658X3

    Protein attributes for C1orf116 Gene

    Size:
    601 amino acids
    Molecular mass:
    63964 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C1orf116 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C1orf116 Gene

Post-translational modifications for C1orf116 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1orf116 Gene

No data available for DME Specific Peptides for C1orf116 Gene

Domains & Families for C1orf116 Gene

Gene Families for C1orf116 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C1orf116 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1orf116 Gene

GenScript: Design optimal peptide antigens:
  • C1orf116 protein (Q9BPY1_HUMAN)
  • Specifically androgen-regulated gene protein (SARG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BW04

UniProtKB/Swiss-Prot:

SARG_HUMAN :
  • Belongs to the SARG family.
Family:
  • Belongs to the SARG family.
genes like me logo Genes that share domains with C1orf116: view

Function for C1orf116 Gene

Molecular function for C1orf116 Gene

UniProtKB/Swiss-Prot Function:
Putative androgen-specific receptor.
UniProtKB/Swiss-Prot Induction:
Expression is up-regulated by androgen, but not by glucocorticoids.

Phenotypes From GWAS Catalog for C1orf116 Gene

Gene Ontology (GO) - Molecular Function for C1orf116 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 19447967
genes like me logo Genes that share ontologies with C1orf116: view
genes like me logo Genes that share phenotypes with C1orf116: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1orf116

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C1orf116 Gene

Localization for C1orf116 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1orf116 Gene

Cytoplasm.

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 C1orf116 gene
Compartment Confidence
plasma membrane 4
cytosol 4
nucleus 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C1orf116 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 15525603
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with C1orf116: view

Pathways & Interactions for C1orf116 Gene

PathCards logo

SuperPathways for C1orf116 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C1orf116 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with C1orf116: view

No data available for Pathways by source and SIGNOR curated interactions for C1orf116 Gene

Drugs & Compounds for C1orf116 Gene

(1) Drugs for C1orf116 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with C1orf116: view

Transcripts for C1orf116 Gene

mRNA/cDNA for C1orf116 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 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 C1orf116

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf116 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d
SP1: - -
SP2: -
SP3: - -
SP4: - - -
SP5: - - - -
SP6:

Relevant External Links for C1orf116 Gene

GeneLoc Exon Structure for
C1orf116

Expression for C1orf116 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C1orf116 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C1orf116 Gene

This gene is overexpressed in Esophagus - Mucosa (x13.8), Lung (x5.4), Skin - Sun Exposed (Lower leg) (x5.0), Stomach (x4.7), Minor Salivary Gland (x4.5), and Skin - Not Sun Exposed (Suprapubic) (x4.3).

Protein differential expression in normal tissues from HIPED for C1orf116 Gene

This gene is overexpressed in Cervix (38.4) and Lavage (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C1orf116 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1orf116

SOURCE GeneReport for Unigene cluster for C1orf116 Gene:

Hs.32417

mRNA Expression by UniProt/SwissProt for C1orf116 Gene:

Q9BW04-SARG_HUMAN
Tissue specificity: Highly expressed in prostate.

Evidence on tissue expression from TISSUES for C1orf116 Gene

  • Lung(4.6)
  • Stomach(4.3)
genes like me logo Genes that share expression patterns with C1orf116: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1orf116 Gene

Orthologs for C1orf116 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1orf116 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf116 30
  • 98.89 (n)
C1orf116 31
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C16H1orf116 30
  • 77.29 (n)
SARG 31
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia AA986860 17 31 30
  • 73.27 (n)
rat
(Rattus norvegicus)
Mammalia LOC498222 30
  • 72.7 (n)
dog
(Canis familiaris)
Mammalia C1orf116 31
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C1orf116 31
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C1orf116 31
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1ORF116 30
  • 55.42 (n)
C1orf116 31
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1orf116 31
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf116 30
  • 49.02 (n)
zebrafish
(Danio rerio)
Actinopterygii C23H1orf116 (2 of 2) 31
  • 33 (a)
OneToMany
C11H1orf116 (1 of 2) 31
  • 24 (a)
OneToMany
Species where no ortholog for C1orf116 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C1orf116 Gene

ENSEMBL:
Gene Tree for C1orf116 (if available)
TreeFam:
Gene Tree for C1orf116 (if available)

Paralogs for C1orf116 Gene

No data available for Paralogs for C1orf116 Gene

Variants for C1orf116 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1orf116 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs11799966 - p.Phe514Ser
rs12062114 - p.Arg258Gly
rs2842726 - p.Ser444Pro
rs34660159 - p.Asn157Thr
rs35267170 - p.Asn434Ser

Additional dbSNP identifiers (rs#s) for C1orf116 Gene

Structural Variations from Database of Genomic Variants (DGV) for C1orf116 Gene

Variant ID Type Subtype PubMed ID
nsv1010486 CNV gain 25217958
nsv832426 CNV gain 17160897

Variation tolerance for C1orf116 Gene

Residual Variation Intolerance Score: 92.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.99; 74.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf116 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf116

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf116 Gene

Disorders for C1orf116 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C1orf116 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fibrosarcomatous osteosarcoma
  • fibroblastic osteosarcoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C1orf116

genes like me logo Genes that share disorders with C1orf116: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C1orf116 Gene

Publications for C1orf116 Gene

  1. A bioinformatics-based functional analysis shows that the specifically androgen-regulated gene SARG contains an active direct repeat androgen response element in the first intron. (PMID: 15525603) Steketee K … Trapman J (Journal of molecular endocrinology 2004) 2 3 4 23 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Both androgen receptor and glucocorticoid receptor are able to induce prostate-specific antigen expression, but differ in their growth-stimulating properties of LNCaP cells. (PMID: 9389513) Cleutjens CB … Trapman J (Endocrinology 1997) 2 3 54
  4. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3 54
  5. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3 54

Products for C1orf116 Gene

Sources for C1orf116 Gene