C4orf19 Explained

C4orf19 (Chromosome 4 open reading frame 19) is a protein which in humans is encoded by the C4orf19 gene.[1]

Gene

The C4orf19 gene is located at 4p14 on the plus strand of chromosome 4 and spans 170.04 kb and contains 7 exons.[2] The genetic neighborhood of C4orf19 includes LOC101928721, LOC105374402, MIR4801, and NWD2, all located upstream of C4orf19. RELL1 is located downstream of C4orf19.[3]

mRNA

There are four known transcript variants that encode isoforms known as transcript variant 1, transcript variant 2, X1, and X2.[4] [5]

Protein

C4orf19 encodes a protein with 314 amino acids and a molecular weight of 33.7 kDa.[6] The theoretical isoelectric point of C4orf19 is 4.4.

Domains and motifs

In humans, the C4orf19 protein contains one domain of unknown function, DUF4699.[7] In eukaryotes the DUF4699 family of proteins are typically between 303 and 319 amino acids in length.[8] DUF4699 spans from amino acid 9 to amino acid 314 in C4orf19.[9] Amongst orthologous proteins, the N-terminus and C-terminus of C4orf19 are most highly conserved.[10]

Secondary structure

Alpha helices are predicted near the N-terminus and C-terminus of C4orf19 in areas that are conserved amongst orthologous proteins.[11] [12] [13]

Post-translational modifications

C4orf19 is predicted to undergo several post-translation modifications, including phosphorylation, glycosylation, and SUMOylation.[14] [15] [16] [17]

Subcellular localization

C4orf19 is predicted to be to be localized in cellular junctions.[18]

Expression

C4orf19 is highly expressed in tissues of the salivary gland, duodenum, small intestine, colon, rectum and kidney.[19] The protein also shows medium levels of expression in tissues of the stomach.

Interacting proteins

Studies using yeast two-hybrid screening have experimentally determined interactions between C4orf19 and PDCD10.[20] [21]

Homology

Paralogs

There are currently no known paralogs or paralogous domains for C4orf19.[22]

Orthologs

Orthologs of C4orf19 have been found in mammals, birds, and reptiles. Within class Mammalia, orthologs have been identified in orders Primates, Rodentia, Artiodactyla, Chirpotera, Carnivora, Cingulata, and Diprotodontia. The Burmese python (Python bivittatus) and Eastern fence lizard (Sceloporus undulatus) contain the most distantly related orthologs of C4orf19. Both species diverged from humans an estimated 312 million years ago. C4orf19 orthologs have not yet been identified in bacteria, archaea, protists, plants, fungi, trichoplax, invertebrates, or bony and cartilaginous fish. The following table represents a selection of orthologs found using searches in BLAST.[23]

C4orf19
Genus, speciesCommon NameTaxonomic GroupEstimated Divergence Date (MYA)Accession NumberSequence Length (aa)Sequence Identity (%)Sequence Similarity (%)
MammaliaHomo sapiensHumansPrimates0NP_060772.2314100100
Mus musculisHouse mouseRodentia90XP_011239094.131356.265.7
Meriones unguiculatusMongolian gerbilRodentia90XP_021503387.131150.660.5
Bos taurusCattleArtiodactyla96NP_001098443.132159.267.3
Myotis brandtiiBrandt's batChiroptera96XP_005859800.132061.269.6
Ailuropoda melanoleucaGiant pandaCarnivora96XP_019662032.231959.968.7
Odobenus rosmarus divergensPacific walrusCarnivora96XP_004396233.131959.269
Felis catusDomestic catCarnivora96XP_023108981.131957.766.8
Puma concolorPumaCarnivora96XP_025778193.131956.165.2
Dasypus novemcinctus9 banded armadilloCingulata105XP_012386176.131662.871.9
Phascolarctos cinereusKoalaDiprotodontia159XP_020847725.130942.653.8
AvesPhasianus colchiusRing-necked pheasantGalliformes312XP_031444602.132930.744.9
Anas platyrhynchosMallard duckAnseriforms312XP_027313057.132732.445.9
Falco peregrinusPeregrine falconFalconiformes312XP_005243272.132328.446.1
Tyto albaBarn owlStriniformes312XP_032855182.232731.544.5
Dromaius novaehollandiaeEmuCasuariiformes328XP_025949540.13283347.7
ReptiliaChrysemys picta belliiPainted turtleTestudines312XP_023962455.134331.546.6
Chelonia mydasGreen sea turtleTestudines312XP_007059772.234433.449.4
Alligator mississippiensisAmerican alligatorCrocodilia312XP_019336018.134031.746.7
Python bivittatusBurmese pythonSquamata312XP_015743375.131928.242.2
Sceloporus undulatusEastern fence lizardSquamata312XP_042324918.131029.842.6

Notes and References

  1. Web site: C4orf19 chromosome 4 open reading frame 19 [Homo sapiens (human)] - Gene - NCBI]. 2021-12-17. www.ncbi.nlm.nih.gov.
  2. Web site: C4orf19 . 2021-12-17. www.genecards.org.
  3. Web site: GeneLoc Integrated Map for Chromosome 4: Search Results. 2021-12-17. genecards.weizmann.ac.il.
  4. Web site: AceView: Gene:C4orf19, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView.. 2021-12-17. www.ncbi.nlm.nih.gov.
  5. 2021-06-26. Homo sapiens chromosome 4 open reading frame 19 (C4orf19), transcript variant 1, mRNA. en-US.
  6. Web site: ExPASy - Compute pI/Mw tool. 2021-12-17. web.expasy.org.
  7. Web site: C4orf19 - Uncharacterized protein C4orf19 - Homo sapiens (Human) - C4orf19 gene & protein. 2021-12-17. www.uniprot.org. en.
  8. Web site: Pfam: Family: DUF4699 (PF15770). 2021-12-17. pfam.xfam.org.
  9. Web site: InterPro. 2021-12-17. www.ebi.ac.uk.
  10. Web site: Clustal Omega < Multiple Sequence Alignment < EMBL-EBI. 2021-12-17. www.ebi.ac.uk.
  11. Web site: JPred: A Protein Secondary Structure Prediction Server. 2021-12-17. www.compbio.dundee.ac.uk. en.
  12. Web site: Kumar. Prof. T. Ashok. CFSSP: Chou & Fasman Secondary Structure Prediction Server. 2021-12-17. www.biogem.org.
  13. Web site: Bioinformatics Toolkit. 2021-12-17. toolkit.tuebingen.mpg.de.
  14. Web site: Motif Scan. 2021-12-17. myhits.sib.swiss. en.
  15. Web site: Services. 2021-12-17. www.healthtech.dtu.dk . en.
  16. Web site: Services. 2021-12-17. www.healthtech.dtu.dk. en.
  17. Web site: GPS-SUMO: Prediction of SUMOylation Sites & SUMO-interaction Motifs. 2021-12-17. sumosp.biocuckoo.org. 2019-02-17. https://web.archive.org/web/20190217125200/http://sumosp.biocuckoo.org/online.php. dead.
  18. Web site: Subcellular - C4orf19 - The Human Protein Atlas. 2021-12-17. www.proteinatlas.org.
  19. Web site: Tissue expression of C4orf19 - Summary - The Human Protein Atlas. 2021-12-17. www.proteinatlas.org.
  20. Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, Beltran JF, Rivera-Erick CA, Ye K, Wang TY, Yao L, Mort M, Stenson PD, Cooper DN, Wei X, Keinan A, Schimenti JC, Clark AG, Yu H . 6 . Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations . Nature Communications . 10 . 1 . 4141 . September 2019 . 31515488 . 6742646 . 10.1038/s41467-019-11959-3 . 2019NatCo..10.4141F .
  21. Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K, Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G, Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP, Harper JW . 6 . Architecture of the human interactome defines protein communities and disease networks . Nature . 545 . 7655 . 505–509 . May 2017 . 28514442 . 5531611 . 10.1038/nature22366 . 2017Natur.545..505H .
  22. Web site: C4orf19 orthologs. 2021-12-17. NCBI. en.
  23. Web site: Protein BLAST: search protein databases using a protein query. 2021-12-17. blast.ncbi.nlm.nih.gov.