| C12orf40 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | C12orf40 , HEL-206, HEL-S-94, chromosome 12 open reading frame 40 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | HomoloGene: 79699 GeneCards: C12orf40 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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C12orf40, also known as Chromosome 12 Open Reading Frame 40, HEL-206, and Epididymis Luminal Protein 206 is a protein that in humans is encoded by the C12orf40 gene. [3]
In humans, the gene for C12orf40 is located on chromosome 12. There are 13 exons in the canonical isoform that is transcribed into an mRNA of 2797 base pairs. [4] Three other isoforms have been isolated. [3]
Homologs exist as distant as the green sea turtle and chickens at approximately 60% sequence identity, suggesting that the gene may have arisen in the amniotes after their divergence from other tetrapods; [5] the first 4 exons are conserved with 36% identity as distantly as the anemone.
The human C12orf40 protein is 652 amino acids in length. [6] Its molecular weight is predicted to be 74.52 kDa, [7] and its isoelectric point 7.822. [8] Amino acids 229-652 contain a domain of unknown function (DUF4552) which is conserved in vertebrates. [6] C12orf40 is predicted to be a soluble protein with no transmembrane segments. [9] Its secondary and tertiary structures are not currently known.
Experimental evidence shows that C12orf40 has a physical interaction with dynein light chain 2 (DYNLL2). [10] This protein is part of a complex that regulates the function of the motor protein dynein.
Within the cell, C12orf40 is predicted to be present in the nucleus based on signals within its sequence. [11] An analysis of normal human tissues shows that C12orf40 expression occurs primarily in the testis, [12] suggesting importance to the male reproductive system.
The function of C12orf40 is not yet well understood. However, the three prime untranslated region (3' UTR) of C12orf40 is highly similar to the 3' UTR of the cystic fibrosis transmembrane conductance regulator (CFTR), which may mean that the two genes share certain expression patterns. [13] In the fibroblasts of hypertrophic scars, exposure to the immunosuppressant Tacrolimus causes C12orf40 up-regulation. [14] In pigs, a region homologous to human C12orf40 plays a role in arthrogryposis, a disease characterized by congenital fibrosis. [15] The common thread of these studies suggests that C12orf40 may have a connection to the formation of healthy connective tissue.
C11orf49 is a protein coding gene that in humans encodes for the C11orf49 protein. It is heavily expressed in brain tissue and peripheral blood mononuclear cells, with the latter being an important component of the immune system. It is predicted that the C11orf49 protein acts as a kinase, and has been shown to interact with HTT and APOE2.
FAM114A2 is a gene on chromosome 5 in humans that encodes a protein FAM114A2. The protein function is not well known. FAM114A2 is, however, highly conserved in mammals with homologs both in fungi and plants.
MALSU1 is a gene on chromosome 7 in humans that encodes the protein MALSU1. This protein localizes to mitochondria and is probably involved in mitochondrial translation or the biogenesis of the large subunit of the mitochondrial ribosome.
C9orf64 is a gene located on chromosome 9, that in humans encodes the protein queuosine salvage protein. The function and biological process of the queuosine salvage protein is a queuosine-nucleotide N-glycosylase/hydrolase (QNG1) that releases queuine from Q-5'-monophosphate, and this activity is required for the salvage of queuine from exogenous Queuosine by S. pombe and HeLa cells. Some evidence from orthologs indicates it may be involved in tRNA processing and recycling. The most common mRNA contains 4 coding exons, and it has 2 additional alternatively spliced exons. C9orf64 has been found in 5 different splice variants.
Chromosome 20 open reading frame 111, or C20orf111, is the hypothetical protein that in humans is encoded by the C20orf111 gene. C20orf111 is also known as Perit1, HSPC207, and dJ1183I21.1. It was originally located using genomic sequencing of chromosome 20. The National Center for Biotechnology Information, or NCBI, shows that it is located at q13.11 on chromosome 20, however the genome browser at the University of California-Santa Cruz (UCSC) website shows that it is at location q13.12, and within a million base pairs of the adenosine deaminase locus. It was also found to have an increase in expression in cells undergoing hydrogen peroxide(H
2O
2)-induced apoptosis. After analyzing the amino acid content of C20orf111, it was found to be rich in serine residues.
Chromosome 6 open reading frame 201, C6orf201, is a protein that in humans is encoded by the C6orf201 gene. In humans this gene encodes for a nuclear protein that is primarily expressed in the testis.
Chromosome 11 open reading frame 86, also known as C11orf86, is a protein-coding gene in humans. It encodes for a protein known as uncharacterized protein C11orf86, which is predicted to be a nuclear protein. The function of this protein is currently unknown.
Chromosome 10 open reading frame 35 (c10orf35) is a gene that in humans, encodes for a protein-binding, transmembrane protein. The protein contains the domain of unknown function 4605 (DUF4605) which belongs to the protein family pfam15378. This gene is located at locus 10q22.1.
Uncharacterized protein C12orf60 is a protein that in humans is encoded by the C12orf60 gene. The gene is also known as LOC144608 or MGC47869. The protein lacks transmembrane domains and helices, but it is rich in alpha-helices. It is predicted to localize in the nucleus.
Uncharacterized protein C2orf73 is a protein that in humans is encoded by the C2orf73 gene. The protein is predicted to be localized to the nucleus.
UPF0488 is a protein that in humans is encoded by the C8orf33 gene. Chromosome 8 open reading frame 33 (C8orf33) is a human protein-coding gene of currently unknown function.
Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. C19orf44 is an uncharacterized protein with an unknown function in humans. C19orf44 is non-limiting implying that the protein exists in other species besides human. The protein contains one domain of unknown function (DUF) that is highly conserved throughout its orthologs. This protein is most highly expressed in the testis and ovary, but also has significant expression in the thyroid and parathyroid. Other names for this protein include: LOC84167.
C22orf23 is a protein which in humans is encoded by the C22orf23 gene. Its predicted secondary structure consists of alpha helices and disordered/coil regions. It is expressed in many tissues and highest in the testes and it is conserved across many orthologs.
C2orf72 is a gene in humans that encodes a protein currently named after its gene, C2orf72. It is also designated LOC257407 and can be found under GenBank accession code NM_001144994.2. The protein can be found under UniProt accession code A6NCS6.
Chromosome 5 open reading frame forty-nine, also known as C5orf49, is a protein that in humans is encoded by the C5orf49 gene. Aliases for C5orf49 include Chromosome 5 Open Reading Frame 49, Uncharacterized Protein C5orf49 and LOC134121. C5orf49 is predicted to localize to the cilia and have ciliary functions.
Chromosome 12 Open Reading Frame 50 (C12orf50) is a protein-encoding gene which in humans encodes for the C12orf50 protein. The accession id for this gene is NM_152589. The location of C12orf50 is 12q21.32. It covers 55.42 kb, from 88429231 to 88373811, on the reverse strand. Some of the neighboring genes to C12orf50 are RPS4XP15, LOC107984542, and C12orf29. RPS4XP15 is upstream C12orf50 and is on the same strand. LOC107984542 and C12orf29 are both downstream. LOC107984542 is on the opposite strand while C12orf29 is on the same strand. C12orf50 has six isoforms. This page is focusing on isoform X1. C12orf50 isoform X1 is 1711 nucleotides long and has a protein with a length of 414 aa.
C4orf36 is a protein that in humans is encoded by the c4orf36 gene.
C1orf159 is a protein that in human is encoded by the C1orf159 gene located on chromosome 1. This gene is also found to be an unfavorable prognosis marker for renal and liver cancer, and a favorable prognosis marker for urothelial cancer.
Human uncharacterized protein CXorf65 is encoded by the gene CXorf65, which is located on the minus strand of chromosome X. Its transcript is 834 nucleotides long and consists of 6 exons. The translated protein is 183 amino acids in length. with a molecular weight of 21.3 kDa
Chromosome 12 open reading frame 71 (c12orf71) is a protein which in humans is encoded by c12orf71 gene. The protein is also known by the alias LOC728858.
