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C14orf180

From Wikipedia, the free encyclopedia
C14orf180
Identifiers
AliasesC14orf180, C14orf77, NRAC, chromosome 14 open reading frame 180
External IDsMGI: 2443020; HomoloGene: 52221; GeneCards: C14orf180; OMA:C14orf180 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001008404
NM_001286399
NM_001286400

NM_177039

RefSeq (protein)

NP_001008404
NP_001273328
NP_001273329

NP_796013

Location (UCSC)Chr 14: 104.58 – 104.59 MbChr 12: 112.46 – 112.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

C14orf180 is found on chromosome 14 in humans: 14q32.33.[5] It consists of 1832 bp and 160 amino acids post translation.[6][7] There is a total number of 6 exons.[5] C14orf180 is also known as NRAC, C14orf77, and Chromosome 14 Open Reading Frame 180.[5]

Isoforms

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C14orf180 has two known isoforms. [5]

Transcript Accession Number Length
Isoform X1 XP_005267694 177aa
Isoform X2 XP_375108 160aa

Protein

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General properties

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C14orf180 protein consists of 160 amino acids.[7] C14orf180 has a predicted molecular weight of 18.1 kD.[8] It also has a predicted unmodified isoelectric point of 11 pI. [8]

Secondary Sequence

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The predicted secondary structure was determined by a cross- program analysis. The results showed three alpha-helices and two-beta sheets. Which, was also predicted in some mammals.[9]

Regulation

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Gene level regulation

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Overall, C14orf180 is moderately expressed in adipose tissue, hear tissue, and skeletal muscle.[10] Slight expression is seen in a wide range of tissues as well.[10] In fetal development expression is highest in the heart tissue through 11-20 weeks, with a peak at 18 weeks.[5]

Homology

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Paralogs

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There are no known paralogs of the C14orf180 gene.

Orthologs

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The C14orf180 gene is found in jawed vertebrates, and is highly conserved in mammals.[11] Some examples are listed below.[11]

Genius & species Common Name Accession Number Length Sequence Identity Sequence Similarity Date of Divergence
Homo sapiens Human AAH41103 160 100% 100% 0 MYA
Pan paniscus Bonobo XP_003807050.1 160 98.80% 98.80% 6.7 MYA
Mus Musculus House Mouse NP_796013.1 165 48.20% 57.60% 90 MYA
Bos taurus Cattle NP_001192317.1 159 61.20% 71.20% 96 MYA
Dormaius novaehollandiae Emu XP_025968311 136 25.40% 37.90% 312 MYA

Function

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The C14orf180 is predicted to be involved in low- density lipoprotein particle protein clearance; however, the function is yet to be well understood by the scientific community.[12]

Clinical significance

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The clinical significance of the C14orf180 gene is yet to be well understood by the scientific community. However, the expression of C14orf180 in skeletal muscle was studied in young males or females compared to old male or females and no significant change was found.[13] C14orf180 was studied in children with obesity, no change expression was found compared to children without obesity.[14]

References

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  1. ^ a b c ENSG00000184601 GRCh38: Ensembl release 89: ENSG00000274126, ENSG00000184601Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043122Ensembl, 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. ^ a b c d e "C14orf180 chromosome 14 open reading frame 180 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-05-08.
  6. ^ "Homo sapiens chromosome 14 open reading frame 180, mRNA (cDNA clone MGC:46445 IMAGE:5193008), complete cds". 2007-12-04. {{cite journal}}: Cite journal requires |journal= (help)
  7. ^ a b "Chromosome 14 open reading frame 180 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-05-08.
  8. ^ a b "ExPASy - Compute pI/Mw tool". web.expasy.org. Retrieved 2020-05-08.
  9. ^ "Bioinformatics Tools for Sequence Translation < EMBL-EBI". www.ebi.ac.uk. Retrieved 2020-05-08.
  10. ^ a b "GDS3113 / 118810". www.ncbi.nlm.nih.gov. Retrieved 2020-05-08.
  11. ^ a b "C14orf180 orthologs". NCBI. Retrieved 2020-05-08.
  12. ^ "ARCHS4". amp.pharm.mssm.edu. Retrieved 2020-05-08.
  13. ^ "GDS5216 / 1558420_at". www.ncbi.nlm.nih.gov. Retrieved 2020-05-08.
  14. ^ "GDS3688 / 1558420_at". www.ncbi.nlm.nih.gov. Retrieved 2020-05-08.