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    C17orf58 chromosome 17 open reading frame 58 [ Homo sapiens (human) ]

    Gene ID: 284018, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C17orf58provided by HGNC
    Official Full Name
    chromosome 17 open reading frame 58provided by HGNC
    Primary source
    HGNC:HGNC:27568
    See related
    Ensembl:ENSG00000186665 AllianceGenome:HGNC:27568
    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
    Summary
    Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 15.6), endometrium (RPKM 14.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C17orf58 in Genome Data Viewer
    Location:
    17q24.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (67991099..67996469, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (68866315..68871697, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (65987215..65992585, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L17 pseudogene 41 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65820867-65821564 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65821565-65822260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12632 Neighboring gene NANOG hESC enhancer GRCh37_chr17:65827101-65827602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12633 Neighboring gene bromodomain PHD finger transcription factor Neighboring gene Sharpr-MPRA regulatory region 4989 Neighboring gene RNA, 7SL, cytoplasmic 622, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8883 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66016003-66016576 Neighboring gene tRNA-Arg (anticodon CCG) 2-1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:66031597-66032144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12635 Neighboring gene karyopherin subunit alpha 2

    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. Extracellular matrix signatures of human primary metastatic colon cancers and their metastases to liver. Naba A, et al. BMC Cancer, 2014 Jul 18. PMID 25037231, Free PMC Article
    2. 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
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    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)

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138278

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 

    General protein information

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    Preferred Names
    UPF0450 protein C17orf58

    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_001382359.1 → NP_001369288.1  UPF0450 protein C17orf58 isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AC134407
      Consensus CDS
      CCDS92385.1
      UniProtKB/Swiss-Prot
      A0A1B0GTI9, A8MQV2, Q2M2W7
      Related
      ENSP00000489720.1, ENST00000580729.3
      Conserved Domains (2) summary
      PRK07764
      Location:14 → 205
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cl02512
      Location:188 → 317
      NTR_like; NTR_like domain; a beta barrel with an oligosaccharide/oligonucleotide-binding fold found in netrins, complement proteins, tissue inhibitors of metalloproteases (TIMP), and procollagen C-proteinase enhancers (PCOLCE), amongst others. In netrins, the ...

    2. NM_181655.4 → NP_858041.2  UPF0450 protein C17orf58 isoform a

      See identical proteins and their annotated locations for NP_858041.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AI126153, AK026583, BC036760, BX364842
      Consensus CDS
      CCDS45765.1
      UniProtKB/TrEMBL
      A0A8J8ZI57
      Related
      ENSP00000402020.2, ENST00000449250.3
      Conserved Domains (1) summary
      cl02512
      Location:1 → 75
      NTR_like; NTR_like domain; a beta barrel with an oligosaccharide/oligonucleotide-binding fold found in netrins, complement proteins, tissue inhibitors of metalloproteases (TIMP), and procollagen C-proteinase enhancers (PCOLCE), amongst others. In netrins, the ...

    3. NM_181656.5 → NP_858042.2  UPF0450 protein C17orf58 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region resulting in novel 3' coding region and 3' UTR. It encodes isoform b, which is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC134407, AI126153, AK026583, BX364842
      Consensus CDS
      CCDS42375.1
      UniProtKB/TrEMBL
      A0A8J8YVE6
      Related
      ENSP00000334741.7, ENST00000334461.7
      Conserved Domains (1) summary
      cl02512
      Location:1 → 35
      NTR_like; NTR_like domain; a beta barrel with an oligosaccharide/oligonucleotide-binding fold found in netrins, complement proteins, tissue inhibitors of metalloproteases (TIMP), and procollagen C-proteinase enhancers (PCOLCE), amongst others. In netrins, the ...

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      67991099..67996469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      68866315..68871697 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2M2W7.3 GenPept UniProtKB/Swiss-Prot:Q2M2W7

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