C1orf127

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Chromosome 1 open reading frame 127
Ideogram human chromosome 1
250px
Identifiers
Symbol C1orf127
External IDs GeneCards: C1orf127 Gene
Orthologs
Mouse
Species Human Mouse
Entrez 148345 *
Ensembl ENSG00000175262 ENSMUSG00000070577
UniProt Q8N9H9 2685418
RefSeq (mRNA) XM_017000373.1 XM_017320183
RefSeq (protein) NM_173507 XP_017175672
Location (UCSC) Chr 1p36.22:
10.95 – 10.98 Mb
Chr 4:
148.64 – 148.67 Mb
PubMed search [1] [2]

Uncharactarized protein C1orf127 is a protein that in humans is encoded by the C1orf127 gene, the structure and function of which is poorly understood by the scientific community. C1orf127 is targeted for extracellular secretion in humans.

Gene

C1orf127 is located on the short arm of Chromosome 1 (1p36.22), spanning 35,566 base pairs from 10946471 to 10982037. It is oriented on the minus strand of the chromosome.

mRNA

The primary assembly has 13 exons, and yields an 823 amino acid protein product. There are two known isoforms caused by alternative splicing.[1]

Protein

C1orf127’s protein product is a member of the Ensembl protein family TF607005.[2] The primary assembly weighs 89 kDa with an isoelectric point of 5.54, making it both longer and heavier than the average protein.[3]

Domains and Motifs

C1orf127 is contains two protein domains: DUF4556 and PHA03247, a domain in the Atrophin-1 superfamily.[4] The functions of both domains are unknown. The protein also appears to have a cleavable signal peptide from Met1 to Pro18.[5]

Subcellular Localization

The protein C1orf127 is suggested to be localized to the extracellular matrix in humans.[5]

Post-Translational Modifications

C1orf127 undergoes N and O-linked glycosylation, and contains a number of potential phosphorylation sites.

Protein-Protein Interactions

C1orf127 is suggested to interact with two different proteins, CCT3, a molecular chaperone, and CCT6B, also a molecular chaperone found in the testis. Because these interacting proteins are both molecular chaperones, it is possible that C1orf127 must undergo chaperone-assisted folding or unfolding.

Expression

C1orf127 is not constitutively expressed, but it is expressed at low to medium levels in a variety of tissues. Greatest expression is observed in the stomach and pancreas.[6] It is also thought to be expressed in certain areas of both the developing and adult brain, such as the cerebellum, as well as skeletal muscle tissue, the testis, cardiac muscle, and throughout the digestive system.

Little else is known about this gene’s expression, however a 2012 paper published in the World Journal of Gastroenterology suggested that it’s mis-expression could be used as a diagnostic marker locus in the detection of cancer[7]

Evolutionary History

C1orf127 has no paralogs within the human genome, however a number of orthologs have been identified, ranging across the jawed vertebrates, including a number of other mammals, marsupials, amphibians, and fish. One of the most distant ortholog identified is found in Danio rerio. Thus, the ancestor of C1orf127 likely arose around 435 MYA.

Species NCBI Accession Number Sequence Length Identity to Human
Papio anubis XP_021791537.1 769 89%
Saimiri boliviensis boliviensis XP_010344835.1 817 79%
Octodon degus XP_023555153.1 514 55%
Jaculus jaculus XP_004657440.1 820 53%
Heterocephalus glaber XP_021099206.1 811 55%
Echinops telfairi XP_012860770.1 766 65%
Chrysochloris asiatica XP_006866497.1 513 58%
Oryctolagus cuniculus XP_017195816.1 696 58%
Chinchilla lanigera XP_005404362.1 778 55%
Loxodonta africana XP_023408259.1 1129 52%
Sarcophilus harrisii XP_023344649.1 1088 56%
Phascolarctos cinereus XP_020835267.1 818 53%
Xenopus laevis XP_018081142.1 690 46%
Haplochromis burtoni XP_00591528.1 564 34%
Lates calcarifer XP_018521386.1 360 39%
Lepisosteus oculatus XP_015192693.1 820 40%
Acanthochromis polyacanthus XP_022062388.1 397 36%
Oncorhynchus mykiss CDQ71724.1 496 35%
Danio rerio XP_021325672.1 328 40%
Astyanax mexicanus XP_022532665.1 662 36%

References

  1. "C1orf127 chromosome 1 open reading frame 127 [ Homo sapiens (human) ]". National Center for Biotechnology Information. Retrieved 18 February 2018.
  2. "Gene: C1orf127". Ensembl. Retrieved 19 February 2018.
  3. Lodish H, Berk A, Matsudaira P, Kaiser CA, Krieger M, Scott MP, Zipurksy SL, Darnell J (2004). Molecular Cell Biology (5th ed.). New York, New York: WH Freeman and Company.
  4. "Conserved domains on uncharacterized protein precursor C1orf127". National Center for Biotechnology Information.
  5. 5.0 5.1 "PSORT II". PSORT II Prediction. Retrieved 6 May 2018.
  6. "C1orf127 chromosome open reading frame 127 [Homo sapiens (human)]". Retrieved 19 February 2018.
  7. Liu, Yuan-Yuan; Chen, Hai-Ying; Zhang, Man-Li; Tian, Dan; Li, Shibo; Lee, Ji-Yun (September 7, 2012). "Loss of fragile histidine triad and amplification of 1p36.22 and 11p15.5 in primary gastric adenocarcinomas". World Journal of Gastroenterology. 18 (33): 4522–4532. doi:10.3748/wjg.v18.i33.4522. PMC 3435777.

C1orf127


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