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

Gene ID: 134553, updated on 7-Jun-2020

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
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

Genomic context

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See C5orf24 in Genome Data Viewer
Location:
5q31.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (134833603..134859735)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (134181370..134195425)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene calcium modulating ligand Neighboring gene DEAD-box helicase 46 Neighboring gene ribosomal protein L34 pseudogene 13 Neighboring gene thioredoxin domain containing 15 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. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. Li X, et al. Mol Syst Biol, 2015 Jan 21. PMID 25609649, Free PMC Article
  2. TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions. Banks CA, et al. Mol Cell Proteomics, 2016 Nov. PMID 27609421, Free PMC Article
  3. Proteomic profiling of VCP substrates links VCP to K6-linked ubiquitylation and c-Myc function. Heidelberger JB, et al. EMBO Rep, 2018 Apr. PMID 29467282, Free PMC Article
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
  5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

See all (11) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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
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
    Q7Z6I8
    Related
    ENSP00000378427.3, ENST00000394976.4

  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

  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
    Q7Z6I8
    Related
    ENSP00000337044.4, ENST00000338051.4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    134833603..134859735
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q7Z6I8

  2. XM_005271889.3 → XP_005271946.1  UPF0461 protein C5orf24 isoform X1

    See identical proteins and their annotated locations for XP_005271946.1

    UniProtKB/Swiss-Prot
    Q7Z6I8
    Related
    ENSP00000395764.2, ENST00000435259.2

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

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

Gene LinkOut

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

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