C1orf127

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.

C1orf127
Identifiers
AliasesC1orf127, chromosome 1 open reading frame 127
External IDsMGI: 2685418 HomoloGene: 52134 GeneCards: C1orf127
Orthologs
SpeciesHumanMouse
Entrez

148345

230909

Ensembl

ENSG00000175262

ENSMUSG00000070577

UniProt

Q8N9H9

B1ARY8

RefSeq (mRNA)

NM_001170754
NM_173507
NM_001366227

NM_001085505
NM_001368835

RefSeq (protein)

NP_001164225
NP_001353156

NP_001078974
NP_001355764

Location (UCSC)Chr 1: 10.95 – 10.98 MbChr 4: 148.73 – 148.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

Protein

C1orf127's protein product is a member of the Ensembl protein family TF607005.[6] The primary assembly weighs 89 kDa with an isoelectric point of 5.54, making it both longer and heavier than the average protein.[7]

Domains and Motifs

C1orf127 is contains two protein domains: DUF4556 and PHA03247, a domain in the Atrophin-1 superfamily.[8] The functions of both domains are unknown. The protein also appears to have a cleavable signal peptide from Met1 to Pro18.[9]

Subcellular Localization

The protein C1orf127 is suggested to be localized to the extracellular matrix in humans.[9]

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.[10] 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 its mis-expression could be used as a diagnostic marker locus in the detection of cancer[11]

Evolutionary History

DUF4556
Identifiers
SymbolDUF4556
PfamPF15094
InterProIPR027956
Available protein structures:
Pfam  structures / ECOD  
PDBRCSB PDB; PDBe; PDBj
PDBsumstructure summary

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.

SpeciesNCBI Accession NumberSequence LengthIdentity to Human
Papio anubisXP_021791537.176989%
Saimiri boliviensis boliviensisXP_010344835.181779%
Octodon degusXP_023555153.151455%
Jaculus jaculusXP_004657440.182053%
Heterocephalus glaberXP_021099206.181155%
Echinops telfairiXP_012860770.176665%
Chrysochloris asiaticaXP_006866497.151358%
Oryctolagus cuniculusXP_017195816.169658%
Chinchilla lanigeraXP_005404362.177855%
Loxodonta africanaXP_023408259.1112952%
Sarcophilus harrisiiXP_023344649.1108856%
Phascolarctos cinereusXP_020835267.181853%
Xenopus laevisXP_018081142.169046%
Haplochromis burtoniXP_00591528.156434%
Lates calcariferXP_018521386.136039%
Lepisosteus oculatusXP_015192693.182040%
Acanthochromis polyacanthusXP_022062388.139736%
Oncorhynchus mykissCDQ71724.149635%
Danio rerioXP_021325672.132840%
Astyanax mexicanusXP_022532665.166236%

References

  1. GRCh38: Ensembl release 89: ENSG00000175262 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000070577 - Ensembl, 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. "C1orf127 chromosome 1 open reading frame 127 [ Homo sapiens (human) ]". National Center for Biotechnology Information. Retrieved 18 February 2018.
  6. "Gene: C1orf127". Ensembl. Retrieved 19 February 2018.
  7. 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.
  8. "Conserved domains on uncharacterized protein precursor C1orf127". National Center for Biotechnology Information.
  9. "PSORT II". PSORT II Prediction. Retrieved 6 May 2018.
  10. "C1orf127 chromosome open reading frame 127 [Homo sapiens (human)]". Retrieved 19 February 2018.
  11. Liu YY, Chen HY, Zhang ML, Tian D, Li S, Lee JY (September 2012). "Loss of fragile histidine triad and amplification of 1p36.22 and 11p15.5 in primary gastric adenocarcinomas". World Journal of Gastroenterology. 18 (33): 4522–32. doi:10.3748/wjg.v18.i33.4522. PMC 3435777. PMID 22969225.

C1orf127

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