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

Gene ID: 284018, updated on 5-Mar-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
Part of collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
17q24.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (67991099..67996469, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (68866315..68871697, complement)
105.20220307 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)

Genotypes

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_2023_10

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

Gene LinkOut

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