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    C1orf116 chromosome 1 open reading frame 116 [ Homo sapiens (human) ]

    Gene ID: 79098, updated on 3-Nov-2024

    Summary

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    Official Symbol
    C1orf116provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 116provided by HGNC
    Primary source
    HGNC:HGNC:28667
    See related
    Ensembl:ENSG00000182795 MIM:611680; AllianceGenome:HGNC:28667
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SARG
    Summary
    Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in lung (RPKM 46.8), esophagus (RPKM 46.0) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1orf116 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (207018522..207032756, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (206283713..206297960, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207191867..207206101, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:207134913-207136112 Neighboring gene Fc alpha and mu receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2438 Neighboring gene tRNA-Pro (anticodon TGG) 5-1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:207192892-207194091 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 4428 Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207224117-207224687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207225911-207226550 Neighboring gene YOD1 deubiquitinase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Both androgen receptor and glucocorticoid receptor are able to induce prostate-specific antigen expression, but differ in their growth-stimulating properties of LNCaP cells. Cleutjens CB, et al. Endocrinology, 1997 Dec. PMID 9389513
    2. Identifying global expression patterns and key regulators in epithelial to mesenchymal transition through multi-study integration. Parsana P, et al. BMC Cancer, 2017 Jun 26. PMID 28651527, Free PMC Article
    3. 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. Steketee K, et al. J Mol Endocrinol, 2004 Oct. PMID 15525603
    4. Identification of novel Smad2 and Smad3 associated proteins in response to TGF-beta1. Brown KA, et al. J Cell Biochem, 2008 Oct 1. PMID 18729074, Free PMC Article
    5. Shifted Transversal Design smart-pooling for high coverage interactome mapping. Xin X, et al. Genome Res, 2009 Jul. PMID 19447967, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SARG mRNA expression is high in prostate tissue. SARG is composed of four exons and spans a region of 14.5 kbp on chromosome 1q32.2.
      Title: 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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2742, MGC4309, FLJ36507, DKFZp666H2010

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    specifically androgen-regulated gene protein
    Names
    specifically androgen-regulated protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001083924.2 → NP_001077393.1  specifically androgen-regulated gene protein isoform 2

      See identical proteins and their annotated locations for NP_001077393.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon at its 5' end, compared to variant 1, producing a distinct 5' UTR and causing translation initiation at a downstream AUG. The encoded protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AC098935, BG150416, DA859157
      Consensus CDS
      CCDS44306.1
      UniProtKB/Swiss-Prot
      Q9BW04
      Related
      ENSP00000436862.1, ENST00000461135.2
      Conserved Domains (1) summary
      pfam15385
      Location:1 → 355
      SARG; Specifically androgen-regulated gene protein

    2. NM_023938.6 → NP_076427.2  specifically androgen-regulated gene protein isoform 1

      See identical proteins and their annotated locations for NP_076427.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC098935, BC000765, BG150416, DA859157
      Consensus CDS
      CCDS1475.1
      UniProtKB/Swiss-Prot
      C9JV41, Q658X3, Q9BW04
      Related
      ENSP00000352447.5, ENST00000359470.6
      Conserved Domains (1) summary
      pfam15385
      Location:40 → 601
      SARG; Specifically androgen-regulated gene protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      207018522..207032756 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509973.3 → XP_011508275.1  specifically androgen-regulated gene protein isoform X2

      See identical proteins and their annotated locations for XP_011508275.1

      UniProtKB/Swiss-Prot
      Q9BW04
      Conserved Domains (1) summary
      pfam15385
      Location:1 → 355
      SARG; Specifically androgen-regulated gene protein

    2. XM_006711530.2 → XP_006711593.1  specifically androgen-regulated gene protein isoform X1

      See identical proteins and their annotated locations for XP_006711593.1

      UniProtKB/Swiss-Prot
      C9JV41, Q658X3, Q9BW04
      Conserved Domains (1) summary
      pfam15385
      Location:40 → 601
      SARG; Specifically androgen-regulated gene protein

    3. XM_005273259.2 → XP_005273316.1  specifically androgen-regulated gene protein isoform X2

      See identical proteins and their annotated locations for XP_005273316.1

      UniProtKB/Swiss-Prot
      Q9BW04
      Conserved Domains (1) summary
      pfam15385
      Location:1 → 355
      SARG; Specifically androgen-regulated gene protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      206283713..206297960 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338684.1 → XP_054194659.1  specifically androgen-regulated gene protein isoform X1

    2. XM_054338686.1 → XP_054194661.1  specifically androgen-regulated gene protein isoform X2

    3. XM_054338685.1 → XP_054194660.1  specifically androgen-regulated gene protein isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BW04.2 GenPept UniProtKB/Swiss-Prot:Q9BW04

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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