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    C5orf24 chromosome 5 open reading frame 24 [ Homo sapiens (human) ]

    Gene ID: 134553, updated on 17-Sep-2024

    Summary

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    Official Symbol
    C5orf24provided by HGNC
    Official Full Name
    chromosome 5 open reading frame 24provided by HGNC
    Primary source
    HGNC:HGNC:26746
    See related
    Ensembl:ENSG00000181904 AllianceGenome:HGNC:26746
    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
    Expression
    Ubiquitous expression in thyroid (RPKM 16.9), endometrium (RPKM 16.2) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See C5orf24 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (134833602..134859735)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (135360554..135386687)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (134181370..134195425)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23162 Neighboring gene calcium modulating ligand Neighboring gene DEAD-box helicase 46 Neighboring gene ribosomal protein L34 pseudogene 13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:134181369-134182104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23163 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134210028-134210733 Neighboring gene uncharacterized LOC124901071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23166 Neighboring gene thioredoxin domain containing 15 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:134240734-134241318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134241319-134241904 Neighboring gene Sharpr-MPRA regulatory region 11731 Neighboring gene pterin-4 alpha-carbinolamine dehydratase 2 Neighboring gene MT-CYB pseudogene 18

    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. Targeting SKA3 suppresses the proliferation and chemoresistance of laryngeal squamous cell carcinoma via impairing PLK1-AKT axis-mediated glycolysis. Gao W, et al. Cell Death Dis, 2020 Oct 26. PMID 33106477, Free PMC Article
    2. The functional interactome of PYHIN immune regulators reveals IFIX is a sensor of viral DNA. Diner BA, et al. Mol Syst Biol, 2015 Feb 9. PMID 25665578, Free PMC Article
    3. SNX27-driven membrane localisation of OTULIN antagonises linear ubiquitination and NF-κB signalling activation. Shi R, et al. Cell Biosci, 2021 Jul 27. PMID 34315543, Free PMC Article
    4. BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A. Mao CG, et al. Thorac Cancer, 2020 Nov. PMID 33001583, Free PMC Article
    5. The Tumor Suppressor CIC Directly Regulates MAPK Pathway Genes via Histone Deacetylation. Weissmann S, et al. Cancer Res, 2018 Aug 1. PMID 29844126, Free PMC Article

    See all (22) 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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    Markers

    Homology

    Clone Names

    • FLJ37562

    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
    UPF0461 protein C5orf24

    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_001135586.1 → NP_001129058.1  UPF0461 protein C5orf24 isoform 1

      See identical proteins and their annotated locations for NP_001129058.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 both encode the same isoform (1).
      Source sequence(s)
      AC006077, DA760705
      Consensus CDS
      CCDS4179.1
      UniProtKB/Swiss-Prot
      D3DQA7, Q7Z6I8, Q86Y53, Q8N1T9
      Related
      ENSP00000378427.3, ENST00000394976.4
      Conserved Domains (1) summary
      pfam17724
      Location:1 → 188
      DUF5568; Family of unknown function (DUF5568)

    2. NM_001300894.2 → NP_001287823.1  UPF0461 protein C5orf24 isoform 2

      See identical proteins and their annotated locations for NP_001287823.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an internal segment, which results in an alternate translation stop codon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF085880, AJ437658, AV707506, BC053677, DA433671
      Consensus CDS
      CCDS75307.1
      UniProtKB/Swiss-Prot
      Q7Z6I8
      Related
      ENSP00000421647.1, ENST00000504727.1
      Conserved Domains (1) summary
      pfam17724
      Location:1 → 143
      DUF5568; Family of unknown function (DUF5568)

    3. NM_152409.3 → NP_689622.2  UPF0461 protein C5orf24 isoform 1

      See identical proteins and their annotated locations for NP_689622.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (1).
      Source sequence(s)
      AC006077, BC053677
      Consensus CDS
      CCDS4179.1
      UniProtKB/Swiss-Prot
      D3DQA7, Q7Z6I8, Q86Y53, Q8N1T9
      Related
      ENSP00000337044.4, ENST00000338051.4
      Conserved Domains (1) summary
      pfam17724
      Location:1 → 188
      DUF5568; Family of unknown function (DUF5568)

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      134833602..134859735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009050.2 → XP_016864539.1  UPF0461 protein C5orf24 isoform X1

      UniProtKB/Swiss-Prot
      D3DQA7, Q7Z6I8, Q86Y53, Q8N1T9
      Conserved Domains (1) summary
      pfam17724
      Location:1 → 188
      DUF5568; Family of unknown function (DUF5568)

    2. XM_005271889.4 → XP_005271946.1  UPF0461 protein C5orf24 isoform X1

      See identical proteins and their annotated locations for XP_005271946.1

      UniProtKB/Swiss-Prot
      D3DQA7, Q7Z6I8, Q86Y53, Q8N1T9
      Related
      ENSP00000395764.2, ENST00000435259.2
      Conserved Domains (1) summary
      pfam17724
      Location:1 → 188
      DUF5568; Family of unknown function (DUF5568)

    3. XM_017009049.2 → XP_016864538.1  UPF0461 protein C5orf24 isoform X1

      UniProtKB/Swiss-Prot
      D3DQA7, Q7Z6I8, Q86Y53, Q8N1T9
      Conserved Domains (1) summary
      pfam17724
      Location:1 → 188
      DUF5568; Family of unknown function (DUF5568)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      135360554..135386687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351653.1 → XP_054207628.1  UPF0461 protein C5orf24 isoform X1

      UniProtKB/Swiss-Prot
      D3DQA7, Q7Z6I8, Q86Y53, Q8N1T9

    2. XM_054351651.1 → XP_054207626.1  UPF0461 protein C5orf24 isoform X1

      UniProtKB/Swiss-Prot
      D3DQA7, Q7Z6I8, Q86Y53, Q8N1T9

    3. XM_054351652.1 → XP_054207627.1  UPF0461 protein C5orf24 isoform X1

      UniProtKB/Swiss-Prot
      D3DQA7, Q7Z6I8, Q86Y53, Q8N1T9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z6I8.1 GenPept UniProtKB/Swiss-Prot:Q7Z6I8

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