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    C9orf153 chromosome 9 open reading frame 153 [ Homo sapiens (human) ]

    Gene ID: 389766, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C9orf153provided by HGNC
    Official Full Name
    chromosome 9 open reading frame 153provided by HGNC
    Primary source
    HGNC:HGNC:31456
    See related
    Ensembl:ENSG00000187753 AllianceGenome:HGNC:31456
    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
    bA507D14.1
    Expression
    Restricted expression toward testis (RPKM 6.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See C9orf153 in Genome Data Viewer
    Location:
    9q21.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (86220265..86259657, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (98371493..98410882, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (88835180..88874572, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:88650825-88651760 Neighboring gene golgi membrane protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:88677599-88678515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:88679748-88680248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:88680249-88681249 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:88693798-88694997 Neighboring gene Sharpr-MPRA regulatory region 3020 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:88713914-88714414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19994 Neighboring gene uncharacterized LOC101927623 Neighboring gene allregulin pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:88761003-88762202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:88771625-88772258 Neighboring gene Sharpr-MPRA regulatory region 1717 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr9:88801905-88802559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19995 Neighboring gene RN7SK pseudogene 264 Neighboring gene uncharacterized LOC124902194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28515 Neighboring gene iron-sulfur cluster assembly 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:88927255-88928092 Neighboring gene terminal uridylyl transferase 7 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:88942866-88943573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28516

    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
    • 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. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    2. A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition. Benslimane Y, et al. Aging Cell, 2021 Apr. PMID 33660365, Free PMC Article
    3. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Potential readthrough

    Included gene: ISCA1

    Homology

    Clone Names

    • MGC131702

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C9orf153

    NCBI Reference Sequences (RefSeq)

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    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_001276366.4 → NP_001263295.1  uncharacterized protein C9orf153

      See identical proteins and their annotated locations for NP_001263295.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AL137849
      Consensus CDS
      CCDS35055.2
      UniProtKB/Swiss-Prot
      Q5TBE3
      Related
      ENSP00000344865.2, ENST00000339137.7

    2. NM_001276367.4 → NP_001263296.1  uncharacterized protein C9orf153

      See identical proteins and their annotated locations for NP_001263296.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AL137849
      Consensus CDS
      CCDS35055.2
      UniProtKB/Swiss-Prot
      Q5TBE3

    3. NM_001276368.4 → NP_001263297.1  uncharacterized protein C9orf153

      See identical proteins and their annotated locations for NP_001263297.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate exon in place of the first exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AL137849
      Consensus CDS
      CCDS35055.2
      UniProtKB/Swiss-Prot
      Q5TBE3

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      86220265..86259657 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      98371493..98410882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001010907.1: Suppressed sequence

      Description
      NM_001010907.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TBE3.1 GenPept UniProtKB/Swiss-Prot:Q5TBE3

    Gene LinkOut

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

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