C17orf58

C17orf58
Identifiers
AliasesC17orf58, chromosome 17 open reading frame 58
External IDsMGI: 1916316; HomoloGene: 45640; GeneCards: C17orf58; OMA:C17orf58 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

284018

69066

Ensembl

ENSG00000186665

ENSMUSG00000078607

UniProt

Q2M2W7

Q08AU9

RefSeq (mRNA)

NM_181655
NM_181656
NM_001382359

NM_001163473
NM_001372502
NM_001372503
NM_001372504

RefSeq (protein)

NP_858041
NP_858042
NP_001369288

NP_001156945
NP_001359431
NP_001359432
NP_001359433

Location (UCSC)Chr 17: 67.99 – 68 MbChr 11: 107.03 – 107.03 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chromosome 17 open reading frame 58 or C17orf58 is a protein coding human gene that located in collagen-containing extracellular matrix and encodes protein C17orf58 isoform c precursor.[5]

Gene

C17orf58 is a protein which in humans is the longest isoform encoded by the C17orf58 gene. C17orf58, also known as chromosome 17 open reading frame 58, is located on the negative strand of chromosome 17 (17q24.2) from 67,991,099 to 67,996,469, spanning 5,371 base pairs.[6]

Expression

  • Gene

Gene expressed variably and ubiquitously at a moderate and high level across many tissues in humans.[7] The gene has high tissue specificity with enhanced expression in the placenta. The gene has low cell type specificity and immune cell specificity, but enriched in fibroblasts and cardiomyocytes. Expression clusters are associated with ECM organization in tissues and fibroblasts, and with innate immunity in immune cells.[8]

Clinical significance

C17orf58 is a prognostic marker in Kidney renal papillary cell carcinoma.[9] Recent research has observed overexpression of C17orf58 in T-cell lymphomas and leukemias. Since the RNA expression is relatively low in most normal cell, and C17ORF58 knockdown in T-cell lines results in the upregulation of numerous pro-apoptotic genes, it suggests that increased expression of c17orf58 might linked with the proliferation of malignant T cells.[10]

mRNA

C17orf58 contains four exons. There are 3 different transcript variants in humans through alternative splicing: transcript variant 1, transcript variant 2, transcript variant 3(see Table 1).

Table 1. Transcripts of C17orf58 and related properties
Transcript variant Accession number Length(nt) Exons Protein isoform Protein Accession number Length(aa)
variant 1 NM_181655.4 1,380 nt 1,2,3 isoform a NP_858041.2 97
variant 2 NM_181656.5 1,523 nt 1,2,3 isoform b NP_858042.2 75
variant 3 NM_001382359.1 2,105 nt 1,2,3,4 isoform c NP_001369288.1 339

Protein

UPF0450 protein C17orf58 isoform c precursor is the longest isoform of c17orf58 protein. It consists of 339 amino acids. It has a molecular mass of 37~kDa and its PI is approximately 10. The protein is expressed in the nucleus in most tissues and localized to the plasma membrane and in the cytosol.[8]

Composition

C17orf58 protein is highly enriched of Arginine (R), Alanine (A) and Proline (P) and has lower amount of Threonine (T), Hydrophobic cluster (FIKMNY) and Aliphatic hydrophobic (LVIFM).[11]

Domain

The protein has three domains: Netrin-like domain, PRK07764 (DNA polymerase III subunits gamma and tau) and TIMP-like_OB-fold.[12][13]

Structure

Protein interactions

Table 2. Interactants with C17orf58 protein.[14]

Protein symbol Protein name Description
MYSM1 Myb like, SWIRM and MPN domains 1 a specific tag for epigenetic transcriptional repression, acting as a coactivator.
SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 An ATP- dependent chromatin-remodeling complex plays roles in cell proliferation and differentiation.
BPTF bromodomain PHD finger transcription factor a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin.
PBRM1 polybromo 1 Acts as a negative regulator of cell proliferation.
ANKFN1 Ankyrin repeat and fibronectin type III domain containing 1. Predicted to be involved in establishment of mitotic spindle orientation.
SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 Involved in transcriptional activation.
SLC35G1 solute carrier family 35 member G1 negative regulator of plasma membrane calcium-transporting ATPases preventing calcium efflux from the cell
C1QTNF4 C1q and TNF related 4 May be involved in the regulation of the inflammatory network.
OR7D2 olfactory receptor family 7 subfamily D member 2 G-protein-coupled receptors. Located in the nose.

Conceptual translation

Evolution

C17orf58 orthologs are found in mammals, birds/reptiles, amphibians and fish but not in any invertebrates( See Table 3). C17orf58 first appeared approximately 429 millions years ago in fish. C17orf58 does not belong to a multi-gene family. While the gene in humans has evolved alternative splicing to produce multiple isoforms, there are no known alternate splice isoforms of the c17orf58 protein found within the most distantly related Engraulis encrasicolus.

Table 3. c17orf58 orthologs and related properties. It shows 8 orthologs of the c17orf58 in mammals, birds & reptiles, amphibians and fishes. Collected data are from NCBI, Time-Tree, and analyzed using EMBOSS NEEDLE.

Genus and species Common name Taxonomic group Date of divergence from the human lineage(MYA) Accession number sequence length (aa) sequence identity to human protein sequence similarity to human protein
Mammal Human Primates 0 NP_001369288.1 339aa 100% 100%
Mammal Chlorocebus sabaeus Monkey 43 XP_072861199.1 341aa 96% 96%
Mammal Eschrichtius robustus Whales 94 XP_068386886.1 331aa 82% 86%
Birds Rhea pennata Birds 319 XP_062447700.1 381aa 41% 52%
Reptiles Lepidochelys kempii Turtles 319 XP_073166835.1 389aa 41% 49%
Amphibian Ambystoma mexicanum Salamanders 352 XP_069511122.1 397aa 59% 77%
Amphibian Xenopus laevis Frogs 352 XP_018089386.1 399 aa 56% 71%
Fish Pangasianodon hypophthalmus Ray-finned Fishes 429 XP_026788945.1 384 aa 52% 69%
Fish Engraulis encrasicolus Ray-finned Fishes 429 XP_063050989.1 393 aa 39% 54%

Reference

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000186665Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000078607Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "C17orf58 chromosome 17 open reading frame 58 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-09-21.
  6. ^ "C17orf58 chromosome 17 open reading frame 58 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-10-19.
  7. ^ "C17orf58 Gene Expression - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-12-04.
  8. ^ a b "C17orf58 protein expression summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2025-10-19.
  9. ^ "C17orf58 protein expression summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2025-09-21.
  10. ^ a b Tobon J, Nowialis P, Lopusna K, Chen D, Badar A, Abdelghany R, et al. (November 2023). "C17ORF58 Is Upregulated in Peripheral T-Cell Lymphomas and Encodes a Protein Critical for Survival of PTCL Cells". Blood. 142: 4145. doi:10.1182/blood-2023-186873.
  11. ^ a b EMBL-EBI, European Bioinformatics Institute. "Job Dispatcher homepage | EMBL-EBI". www.ebi.ac.uk. Retrieved 2025-12-04.
  12. ^ "GeneCards.C17orf58".
  13. ^ "UPF0450 protein C17orf58 isoform c precursor [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-12-12.
  14. ^ "STRING: functional protein association networks". string-db.org. Retrieved 2025-12-04.