C1orf74
| C1orf74 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | C1orf74, URLC4, chromosome 1 open reading frame 74 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 2441776; HomoloGene: 17592; GeneCards: C1orf74; OMA:C1orf74 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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UPF0739 protein C1orf74 is a protein that in humans is encoded by the C1orf74 gene.[5]
Gene
[edit]The gene C1orf74 is a protein-encoding gene on chromosome 1 in humans.[5][6] It is also known as URLC4 in humans. The locus of this gene is 1q32.2. C1orf74 is 2229 base pairs long. The gene contains two exons.
C1orf74 is downstream of the gene interferon regulatory factor 6 or IRF6 in humans.[7]
Transcript
[edit]C1orf74 is transcribed into an mRNA that is 1642 nucleotides long in humans.[8] The transcript contains two exons and one upstream in-frame stop codon. The 5' UTR of this transcript is 343 nucleotides long and the 3' UTR is 570 nucleotides long.
Both exons are usually transcribed.[9] A few cases exist where only the second exon was transcribed. A fusion transcript containing IRF6 and the first exon of C1orf74 has also been found, but this transcript results in a short polypeptide.[10]
Protein
[edit]The protein that is encoded by C1orf74 in humans is most commonly known as UPF0739 protein C1orf74.[11] The human version of UPF0739 contains 269 amino acids and weighs 29430 Da. Amino acids 19 to 269 are part of a domain of unknown function known as DUF4504. Within this DUF, there are two conserved sequence motifs LLGYP and SFS.
The translational start site of C1orf74 is after the exon-exon junction, which means the protein is made only by translating the second exon.
Expression
[edit]C1orf74 is ubiquitously expressed in most tissues in humans during embryonic development and through adulthood.[12] This gene is expressed throughout the nervous system, mammary and salivary glands, skin, and most internal organs.
Function
[edit]One suggestion of C1orf74's function in humans comes from data that has been published only in NCBI from a paper that will come out later this year by Daigo and Nakamura. The authors found that C1orf74 is up-regulated in lung cancer and they have added the alias URLC4 to this protein (BAQ19750).
C1orf74's locus, 1q32.2, has been associated with schizophrenia.[13] This means that C1orf74, or its neighbors, contribute to the risk of schizophrenia. A mutation in IRF6, C1orf74's upstream neighbor, results in cleft palate and Van der Woude syndrome.[14] Mutations in regions upstream and downstream of IRF6, such as C1orf74, may also result in Van der Woude syndrome or these mutations may work with a mutation in IRF6 to result in the disease.
Evolution
[edit]The human gene C1orf74 does not have any known paralogs, but it has many orthologs that contain the same DUF. It has orthologs in most vertebrates and some invertebrates, like worms, leeches and sea snails.[15] Some of C1orf74's orthologs include mouse, hedgehog, chicken, zebrafish, alligator, and leech. C1orf74 has a distant ortholog in white rust (Albugo candida), which is a type of oomycete and not a true fungus.[16] No orthologs were found in plants, fungi, or bacteria.
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000162757 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000079144 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, et al. (May 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
- ^ "C1orf74 chromosome 1 open reading frame 74 [Homo sapiens (human)]". NCBI Gene. NCBI. Retrieved 8 May 2015.
- ^ "Homo sapiens complex locus IRF6and C1orf74, encoding interferon regulatory factor 6 and chromosome 1 open reading frame 74". NCBI AceView. NCBI. Retrieved 8 May 2015.
- ^ "Homo sapiens chromosome 1 open reading frame 74 (C1orf74), mRNA". NCBI Nucleotide. NCBI. Retrieved 15 February 2015.
- ^ "UCSC Genome Browser". UC Santa Cruz.
- ^ "Homo sapiens complex locus IRF6and C1orf74, encoding interferon regulatory factor 6 and chromosome 1 open reading frame 74". NCBI AceView. NCBI. Retrieved 8 May 2015.
- ^ "UPF0739 protein C1orf74 [Homo sapiens]". NCBI Protein. NCBI.
- ^ "GDS3113 Various normal tissues". NCBI GEO Profiles. NCBI.
- ^ Gurling HM, Kalsi G, Brynjolfson J, Sigmundsson T, Sherrington R, Mankoo BS, Read T, Murphy P, Blaveri E, McQuillin A, Petursson H, Curtis D (March 2001). "Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23". American Journal of Human Genetics. 68 (3): 661–73. doi:10.1086/318788. PMC 1274479. PMID 11179014.
- ^ Jakobsen LP, Ullmann R, Kjaer KW, Knudsen MA, Tommerup N, Eiberg H (November 2007). "Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family". American Journal of Medical Genetics. Part A. 143A (22): 2716–21. doi:10.1002/ajmg.a.32011. PMID 17937438. S2CID 23848325.
- ^ Klein SL, Strausberg RL, Wagner L, Pontius J, Clifton SW, Richardson P (December 2002). "Genetic and genomic tools for Xenopus research: The NIH Xenopus initiative". Developmental Dynamics. 225 (4): 384–91. doi:10.1002/dvdy.10174. PMID 12454917.
- ^ Choi YJ, Thines M (8 June 2010). "Morphological and molecular confirmation of Albugo resedae (Albuginales; Oomycota) as a distinct species from A. candida". Mycological Progress. 10 (2): 143–148. doi:10.1007/s11557-010-0683-4. S2CID 25231366.