C7orf57

C7orf57
Identifiers
Aliases	C7orf57 , chromosome 7 open reading frame 57
External IDs	MGI: 3651127 HomoloGene: 77951 GeneCards: C7orf57
Gene location (Human)
Chr.	Chromosome 7 (human)
End	48,061,304 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	9,019,356 bp
RNA expression pattern
	Top expressed in
	bronchial epithelial cell; ; right uterine tube; ; caput epididymis; ; right lung; ; lower lobe of lung; ; caudate nucleus; ; endometrium; ; hypothalamus; ; left uterine tube; ; nucleus accumbens;
	Top expressed in
	olfactory epithelium; ; spermatocyte; ; spermatid; ; proximal tubule; ; lip; ; kidney; ; esophagus; ; seminiferous tubule; ; otolith organ; ; utricle;
	More reference expression data
	n/a
Orthologs
	136288
	626870
	ENSG00000164746
	ENSMUSG00000040978
	Q8NEG2
	Q5SS90
	NM_001100159 ; NM_001267865 ; NM_001267866
	NM_001037928
	NP_001093629 ; NP_001254794 ; NP_001254795
	NP_001033017
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated January 05, 2024

Chromosome 7 open reading frame 57 is an uncharacterized protein found in humans and several other homologs. It is encoded by the C7orf57 gene. This gene is found to be greatly expressed in the fallopian tubes, testes, lungs, hippocampus, hypothalamus, and caudate.^[5] There are three isoforms of the gene. Within the gene sequence 9 exons are present. C7orf57 has been linked to lupus,^[6] pancreatic cancer^[7] sporadic amyotrophic lateral sclerosis.^[8] and gastrointestinal toxicity^[9]

Gene

There are three isoforms of C7orf57. Isoform 1 is the longest of the three with 2102 residues and 9 exons. The protein sequence is 295 base pairs. Its locus is 7p12.3. It is often found in nuclear and mitochondrial sub cellular locations.^[10]

C7orf57 has a promoter upstream of its transcription site as found in Genomatix.^[11] The promoter is 1125 base pairs long, located between 48024511-48025635. It codes for six transcripts of C7orf57.

Protein

Post translation modifications

There are many phosphorylation sites found on the protein, mostly on serine and threonine. There are also many glycosylation sites.

Secondary structure

C7orf57 does not have a known secondary structure, though it is predicted to consist mainly of random coils with some alpha helixes. It is predicted to be similar in structure to Phosphoribosylanthranilate isomerase.

Tissue expression

C7orf57 has increased expressed in the larynx, testis, fallopian tubes, lungs, and parts of the brain. It is expressed in lower amounts with pathology.^[12]

Evolution

Orthologs have been found in mammals, ranging from primates to amphibians. There are also orthologs found in more distant species such as birds, reptiles, and fish with the most distant relative being a whale shark. There are two paralogs of the gene, for actin a and actin b. The gene has evolved at a steady pace when compared to a slow and a fast evolving gene.

Homologs
Species	Median Date of Divergence (MYA)	% Identity
Humans	0	100
Orangutan	15.2	96.27
Gibbon	19.4	95.59
Tarsier	66.7	84.53
Horse	94	77.29
Seal	94	71.48
Armadillo	102	71.48
Killdeer	320	58.16
Ostrich	320	56.5
Turkey	320	51.05
Green Anole	320	51
Burmese Python	320	50.9
Pit Viper	320	50
Japanese Gekko	320	47.22
Zebra Finch	320	46.96
Crow	320	41.38
Tibetan Frog	353	47.79
Tropical Clawed Frog	353	45.9
American Bullfrog	353	44.35
Elephant Shark	465	29.11

Clinical significance

C7orf57 has been linked to several diseases, including pancreatic cancer, sporadic amyotrophic lateral sclerosis (ALS), systematic lupus erythematous (SLE), and gastrointestinal toxicity. In a study that analyzed pancreatic cancer cells, it was found that when a patient was treated with metformin and aspirin, C7orf57 was unregulated by over 10 fold.^[7] Another disease of interest is gastrointestinal toxicity. A high correlation between C7orf57 and an increased risk of experiencing severe gastrointestinal toxicity was found with a r2 value of 1.0^[9] For ALS, the gene was found to have a nonrandom association with one of the SNPs associated with the disease. However, genome-wide significance was not achieved.^[8] The gene is also linked to Lupus as to SNPs in its locus were found to be related to serum IFN-α activity, which is elevated in many lupus patients and therefore is thought to be a causing factor. Like in the ALS study, the locus failed to replicate.^[6]

C7orf57 was found to have lower expression than normal when studying individuals with endometriosis and nasopharyngeal carcinoma, a cancer of the head and neck^[14]

Related Research Articles

Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or hSod1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases. It is implicated in apoptosis, familial amyotrophic lateral sclerosis and Parkinson's disease.

Alsin is a protein that in humans is encoded by the ALS2 gene. ALS2 orthologs have been identified in all mammals for which complete genome data are available.

Uncharacterized protein C1orf21, also known as Proliferation-Inducing Protein 13, is a protein that in humans is encoded by the C1orf21 gene. C1orf21 is an intracellular protein that flows between the nucleus and the cytoplasm in the cell. It has been linked with cell growth and reproduction and there has been strong links with various types of cancers. There are no paralogs for this gene, however, many conserved orthologs have been found in all invertebrates. C1orf21 has low to moderate level of expression in most tissues in humans, however, it has the most expression in the skin, lung and prostate.

TSBP1 is a protein that in humans is encoded by the TSBP1 gene. C6orf10 is an open reading frame on chromosome 6 containing a protein that is ubiquitously expressed at low levels in the adult genome and may play a role during fetal development. C6orf10 has been found to be linked to both neurodegenerative and autoimmune diseases in adults. Expression of this gene is highest in the testis but is also seen in other tissue types such as the brain, lens of the eye and the medulla. TSBP1 was previously known as C6orf10.

C9orf72 is a protein which in humans is encoded by the gene C9orf72.

Unc-13 homolog A is a protein that in humans is encoded by the UNC13A gene.

Transmembrane Protein 176B, or TMEM176B is a transmembrane protein that in humans is encoded by the TMEM176B gene. It is thought to play a role in the process of maturation of dendritic cells.

PRR32 is a protein that in humans is encoded by the CXorf64 gene. It was also found that the homologs of the PRR32 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat. It was also found through ncbi that 82 organisms have orthologs with human gene PRR323.

FAM71E1, also known as Family With Sequence Similarity 71 Member E1, is a protein that in humans is encoded by the FAM71E1 gene. It is thought to be ubiquitously expressed at low levels throughout the body, and it is conserved in vertebrates, particularly mammals and some reptiles. The protein is localized to the nucleus and can be exported to the cytoplasm.

Chromosome 9 open reading frame 43 is a protein that in humans is encoded by the C9orf43 gene. The gene is also known as MGC17358 and LOC257169. C9orf43 contains DUF 4647 and a polyglutamine repeat region although protein function is not well understood.

Transmembrane protein 171 (TMEM171) is a protein that in humans is encoded by the TMEM171 gene.

Chromosome X Open Reading Frame 38 (CXorf38) is a protein which, in humans, is encoded by the CXorf38 gene. CXorf38 appears in multiple studies regarding the escape of X chromosome inactivation.

Ski/Dach domain-containing protein 1 is a protein that in humans is encoded by the SKIDA1 gene. It is also known as C10orf140 and DLN-1. It has orthologs in vertebrates. It has two domains: the Ski/Sno/Dac domain and a domain of unknown function, DUF4854. It is associated with multiple types of cancer, like leukemia, ovarian cancer, and colon cancer. It's predicted to be a nuclear protein. It may interact with PRC2.

Uncharacterized protein C17orf78 is a protein encoded by the C17orf78 gene in humans. The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The protein is highly expressed in the small intestine, especially the duodenum. The function of C17orf78 is not well defined.

Chromosome 1 Opening Reading Frame 94 or C1orf94 is a protein in human coded by the C1orf94 gene. The function of this protein is still poorly understood.

C12orf24 is a gene in humans that encodes a protein known as FAM216A. This gene is primarily expressed in the testis and brain, but has constitutive expression in 25 other tissues. FAM216A is an intracellular protein that has been predicted to reside within the nucleus of cells. The exact function of C12orf24 is unknown. FAM216A is highly expressed in Sertoli cells of the testis as well as different stage spermatids.

Transmembrane protein 101 (TMEM101) is a protein that in humans is encoded by the TMEM101 gene. The TMEM101 protein has been demonstrated to activate the NF-κB signaling pathway. High levels of expression of TMEM101 have been linked to breast cancer.

Family with Sequence Similarity 166, member C (FAM166C), is a protein encoded by the FAM166C gene. The protein FAM166C is localized in the nucleus. It has a calculated molecular weight of 23.29 kDa. It also contains DUF2475, a protein of unknown function from amino acid 19–85. The FAM166C protein is nominally expressed in the testis, stomach, and thyroid.

NADP-dependent oxidoreductase domain-containing protein 1 is a protein that in humans is encoded by the NOXRED1 gene. An alias of this gene is Chromosome 14 Open Reading Frame 148 (c14orf148). This gene is located on chromosome 14, at 14q24.3. NOXRED1 is predicted to be involved in pyrroline-5-carboxylate reductase activity as part of the L-proline biosynthetic pathway. It is expressed in a wide variety of tissues at a relatively low level, including the testes, thyroid, skin, small intestine, brain, kidney, colon, and more.

Maestro heat-like repeat-containing protein family member 9 (MROH9) is a protein which in humans is encoded by the MROH9 gene. The word ‘maestro’ itself is an acronym, standing for male-specific transcription in the developing reproductive organs (MRO). MRO genes belong to the MROH family, which includes MROH9.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000164746 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040978 - 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.
↑ "Tissue expression of C7orf57 - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2019-02-08.
1 2 Kariuki SN, Ghodke-Puranik Y, Dorschner JM, Chrabot BS, Kelly JA, Tsao BP, et al. (January 2015). "Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus". Genes and Immunity. 16 (1): 15–23. doi:10.1038/gene.2014.57. PMC 4305028 . PMID 25338677.
1 2 Yue W, Wang T, Zachariah E, Lin Y, Yang CS, Xu Q, DiPaola RS, Tan XL (August 2015). "Transcriptomic analysis of pancreatic cancer cells in response to metformin and aspirin: an implication of synergy". Scientific Reports. 5: 13390. Bibcode:2015NatSR...513390Y. doi:10.1038/srep13390. PMC 4543968 . PMID 26294325.
1 2 Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, et al. (April 2009). "A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis". Human Molecular Genetics. 18 (8): 1524–32. doi:10.1093/hmg/ddp059. PMC 2664150 . PMID 19193627.
1 2 Corrigan, A. (21026). An Investigation of the Pharmocogenetic Basis of Toxicity to Platinum Chemotherapy Agents (Unpublished master's thesis). Kings College.
↑ "PSORT II Prediction".
↑ "Genomatix Annotation".
↑ Tissue Expression of C7orf57 - Summary - The Human Protein Atlas, www.proteinatlas.org/ENSG00000164746-C7orf57/tissue.
↑ "Cn3d macromolecule structure viewer".
↑ Hawkins SM, Creighton CJ, Han DY, Zariff A, Anderson ML, Gunaratne PH, Matzuk MM (May 2011). "Functional microRNA involved in endometriosis". Molecular Endocrinology. 25 (5): 821–32. doi:10.1210/me.2010-0371. PMC 3082329 . PMID 21436257.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000164746 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040978 - 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] "Tissue expression of C7orf57 - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2019-02-08.

[:0-6] 1 2 Kariuki SN, Ghodke-Puranik Y, Dorschner JM, Chrabot BS, Kelly JA, Tsao BP, et al. (January 2015). "Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus". Genes and Immunity. 16 (1): 15–23. doi:10.1038/gene.2014.57. PMC 4305028 . PMID 25338677.

[:1-7] 1 2 Yue W, Wang T, Zachariah E, Lin Y, Yang CS, Xu Q, DiPaola RS, Tan XL (August 2015). "Transcriptomic analysis of pancreatic cancer cells in response to metformin and aspirin: an implication of synergy". Scientific Reports. 5: 13390. Bibcode:2015NatSR...513390Y. doi:10.1038/srep13390. PMC 4543968 . PMID 26294325.

[:2-8] 1 2 Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, et al. (April 2009). "A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis". Human Molecular Genetics. 18 (8): 1524–32. doi:10.1093/hmg/ddp059. PMC 2664150 . PMID 19193627.

[:3-9] 1 2 Corrigan, A. (21026). An Investigation of the Pharmocogenetic Basis of Toxicity to Platinum Chemotherapy Agents (Unpublished master's thesis). Kings College.

[10] "PSORT II Prediction".

[11] "Genomatix Annotation".

[12] Tissue Expression of C7orf57 - Summary - The Human Protein Atlas, www.proteinatlas.org/ENSG00000164746-C7orf57/tissue.

[13] "Cn3d macromolecule structure viewer".

[pmid21436257-14] Hawkins SM, Creighton CJ, Han DY, Zariff A, Anderson ML, Gunaratne PH, Matzuk MM (May 2011). "Functional microRNA involved in endometriosis". Molecular Endocrinology. 25 (5): 821–32. doi:10.1210/me.2010-0371. PMC 3082329 . PMID 21436257.

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