C4orf19

C4orf19
Identifiers
Aliases	C4orf19 , chromosome 4 open reading frame 19
External IDs	MGI: 1923511; HomoloGene: 49537; GeneCards: C4orf19; OMA:C4orf19 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4p14 Start 37,453,925 bp [1] End 37,623,495 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 C3.1 Start 63,969,706 bp [2] End 64,056,968 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in amniotic fluid pancreatic ductal cell mucosa of sigmoid colon parotid gland oocyte secondary oocyte mucosa of ileum rectum mucosa of transverse colon islet of Langerhans Top expressed in epithelium of stomach interventricular septum islet of Langerhans pyloric antrum right kidney mucous cell of stomach duodenum yolk sac colon Paneth cell More reference expression data BioGPS n/a
Orthologs Species Human Mouse 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 Mb Chr 5: 63.97 – 64.06 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Gene

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

Structural analog of C4orf19, generated by AlphaFold and visualized with NCBI iCn3D. 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

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

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

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

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

Subcellular localization

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

Expression

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

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

Homology

Paralogs

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

Orthologs

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

1. GRCh38: Ensembl release 89: ENSG00000154274 – Ensembl, May 2017
2. 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. "C4orf19 chromosome 4 open reading frame 19 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-12-17.
6. "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. "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. "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.
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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.
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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. "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. "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.