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

Gene ID: 134553, updated on 5-Mar-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
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Genomic context

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Location:
5q31.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (134833602..134859735)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (135360554..135386687)
105.20220307 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 (21) 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)

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

  • 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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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_2023_10

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

Gene LinkOut

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