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C4orf19

From Wikipedia, the free encyclopedia
C4orf19
Identifiers
AliasesC4orf19, chromosome 4 open reading frame 19
External IDsMGI: 1923511; HomoloGene: 49537; GeneCards: C4orf19; OMA:C4orf19 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

55286

76261

Ensembl

ENSG00000154274

ENSMUSG00000060512

UniProt

Q8IY42

Q99K99

RefSeq (mRNA)

NM_001104629
NM_018302

NM_029554

RefSeq (protein)

NP_001098099
NP_060772

NP_083830

Location (UCSC)Chr 4: 37.45 – 37.62 MbChr 5: 63.97 – 64.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

C4orf19 (Chromosome 4 open reading frame 19) is a protein which in humans is encoded by the C4orf19 gene.[5]

Gene

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The C4orf19 gene is located at 4p14 on the plus strand of chromosome 4 and spans 170.04 kb and contains 7 exons.[5][6] The genetic neighborhood of C4orf19 includes LOC101928721, LOC105374402, MIR4801, and NWD2, all located upstream of C4orf19. RELL1 is located downstream of C4orf19.[7]

mRNA

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Structural analog of C4orf19, generated by AlphaFold and visualized with NCBI iCn3D.[8][9] Conserved sequences that were predicted to be alpha helices are highlighted in yellow.

There are four known transcript variants that encode isoforms known as transcript variant 1, transcript variant 2, X1, and X2.[10][11]

Protein

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Conceptual translation of C4orf19 protein, with annotation key below. Exon-exon boundaries, phosphorylation sites and internal repeated sequences are marked

C4orf19 encodes a protein with 314 amino acids and a molecular weight of 33.7 kDa.[6][12] The theoretical isoelectric point of C4orf19 is 4.4.[6]

Domains and motifs

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In humans, the C4orf19 protein contains one domain of unknown function, DUF4699.[13] In eukaryotes the DUF4699 family of proteins are typically between 303 and 319 amino acids in length.[14] DUF4699 spans from amino acid 9 to amino acid 314 in C4orf19.[15] Amongst orthologous proteins, the N-terminus and C-terminus of C4orf19 are most highly conserved.[16]

Secondary structure

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Alpha helices are predicted near the N-terminus and C-terminus of C4orf19 in areas that are conserved amongst orthologous proteins.[8][17][18][19]

Post-translational modifications

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C4orf19 is predicted to undergo several post-translation modifications, including phosphorylation, glycosylation, and SUMOylation.[20][21][22][23]

Subcellular localization

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C4orf19 is predicted to be to be localized in cellular junctions.[13][24]

Expression

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C4orf19 is highly expressed in tissues of the salivary gland, duodenum, small intestine, colon, rectum and kidney.[25] The protein also shows medium levels of expression in tissues of the stomach.[25]

Interacting proteins

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Studies using yeast two-hybrid screening have experimentally determined interactions between C4orf19 and PDCD10.[26][27]

Homology

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Paralogs

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There are currently no known paralogs or paralogous domains for C4orf19.[28]

Orthologs

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Orthologs of C4orf19 have been found in mammals, birds, and reptiles.[28] 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.[29]

C4orf19 Orthologs
C4orf19 Genus, species Common Name Taxonomic Group Estimated Divergence Date (MYA) Accession Number Sequence Length (aa) Sequence Identity (%) Sequence Similarity (%)
Mammalia Homo sapiens Humans Primates 0 NP_060772.2 314 100 100
Mus musculis House mouse Rodentia 90 XP_011239094.1 313 56.2 65.7
Meriones unguiculatus Mongolian gerbil Rodentia 90 XP_021503387.1 311 50.6 60.5
Bos taurus Cattle Artiodactyla 96 NP_001098443.1 321 59.2 67.3
Myotis brandtii Brandt's bat Chiroptera 96 XP_005859800.1 320 61.2 69.6
Ailuropoda melanoleuca Giant panda Carnivora 96 XP_019662032.2 319 59.9 68.7
Odobenus rosmarus divergens Pacific walrus Carnivora 96 XP_004396233.1 319 59.2 69
Felis catus Domestic cat Carnivora 96 XP_023108981.1 319 57.7 66.8
Puma concolor Puma Carnivora 96 XP_025778193.1 319 56.1 65.2
Dasypus novemcinctus 9 banded armadillo Cingulata 105 XP_012386176.1 316 62.8 71.9
Phascolarctos cinereus Koala Diprotodontia 159 XP_020847725.1 309 42.6 53.8
Aves Phasianus colchius Ring-necked pheasant Galliformes 312 XP_031444602.1 329 30.7 44.9
Anas platyrhynchos Mallard duck Anseriforms 312 XP_027313057.1 327 32.4 45.9
Falco peregrinus Peregrine falcon Falconiformes 312 XP_005243272.1 323 28.4 46.1
Tyto alba Barn owl Striniformes 312 XP_032855182.2 327 31.5 44.5
Dromaius novaehollandiae Emu Casuariiformes 328 XP_025949540.1 328 33 47.7
Reptilia Chrysemys picta bellii Painted turtle Testudines 312 XP_023962455.1 343 31.5 46.6
Chelonia mydas Green sea turtle Testudines 312 XP_007059772.2 344 33.4 49.4
Alligator mississippiensis American alligator Crocodilia 312 XP_019336018.1 340 31.7 46.7
Python bivittatus Burmese python Squamata 312 XP_015743375.1 319 28.2 42.2
Sceloporus undulatus Eastern fence lizard Squamata 312 XP_042324918.1 310 29.8 42.6

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000154274 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000060512 – 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. ^ a b "C4orf19 chromosome 4 open reading frame 19 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-12-17.
  6. ^ a b c "C4orf19". www.genecards.org. Retrieved 2021-12-17.
  7. ^ "GeneLoc Integrated Map for Chromosome 4: Search Results". genecards.weizmann.ac.il. Retrieved 2021-12-17.
  8. ^ a b "AlphaFold Protein Structure Database". alphafold.ebi.ac.uk. Retrieved 2021-12-17.
  9. ^ "iCn3D: Web-based 3D Structure Viewer". www.ncbi.nlm.nih.gov. Retrieved 2021-12-17.
  10. ^ "AceView: Gene:C4orf19, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". www.ncbi.nlm.nih.gov. Retrieved 2021-12-17.
  11. ^ "Homo sapiens chromosome 4 open reading frame 19 (C4orf19), transcript variant 1, mRNA". 2021-06-26. {{cite journal}}: Cite journal requires |journal= (help)
  12. ^ "ExPASy - Compute pI/Mw tool". web.expasy.org. Retrieved 2021-12-17.
  13. ^ a b "C4orf19 - Uncharacterized protein C4orf19 - Homo sapiens (Human) - C4orf19 gene & protein". www.uniprot.org. Retrieved 2021-12-17.
  14. ^ "Pfam: Family: DUF4699 (PF15770)". pfam.xfam.org. Retrieved 2021-12-17.
  15. ^ "InterPro". www.ebi.ac.uk. Retrieved 2021-12-17.
  16. ^ "Clustal Omega < Multiple Sequence Alignment < EMBL-EBI". www.ebi.ac.uk. Retrieved 2021-12-17.
  17. ^ "JPred: A Protein Secondary Structure Prediction Server". www.compbio.dundee.ac.uk. Retrieved 2021-12-17.
  18. ^ Kumar, Prof. T. Ashok. "CFSSP: Chou & Fasman Secondary Structure Prediction Server". www.biogem.org. Retrieved 2021-12-17.
  19. ^ "Bioinformatics Toolkit". toolkit.tuebingen.mpg.de. Retrieved 2021-12-17.
  20. ^ "Motif Scan". myhits.sib.swiss. Retrieved 2021-12-17.
  21. ^ "Services". www.healthtech.dtu.dk. Retrieved 2021-12-17.
  22. ^ "Services". www.healthtech.dtu.dk. Retrieved 2021-12-17.
  23. ^ "GPS-SUMO: Prediction of SUMOylation Sites & SUMO-interaction Motifs". sumosp.biocuckoo.org. Archived from the original on 2019-02-17. Retrieved 2021-12-17.
  24. ^ "Subcellular - C4orf19 - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2021-12-17.
  25. ^ a b "Tissue expression of C4orf19 - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2021-12-17.
  26. ^ Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, et al. (September 2019). "Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations". Nature Communications. 10 (1): 4141. Bibcode:2019NatCo..10.4141F. doi:10.1038/s41467-019-11959-3. PMC 6742646. PMID 31515488.
  27. ^ Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K, et al. (May 2017). "Architecture of the human interactome defines protein communities and disease networks". Nature. 545 (7655): 505–509. Bibcode:2017Natur.545..505H. doi:10.1038/nature22366. PMC 5531611. PMID 28514442.
  28. ^ a b "C4orf19 orthologs". NCBI. Retrieved 2021-12-17.
  29. ^ "Protein BLAST: search protein databases using a protein query". blast.ncbi.nlm.nih.gov. Retrieved 2021-12-17.
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