C11orf1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | C11orf1 , chromosome 11 open reading frame 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | MGI: 1915971; HomoloGene: 11242; GeneCards: C11orf1; OMA:C11orf1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Chromosome 11 open reading frame one, also known as C11orf1, is a protein-coding gene. [5] It has been found by yeast two hybrid screen to bind to SETDB1 a histone protein methyltransferase enzyme. SETDB1 has been implicated in Huntington's disease, a neurodegenerative disorder. [6]
C11orf1 is a nuclear protein with unknown function but has been shown to show preferential expression in some disease states in microarray data. [7] [8]
C11orf1 shows conservation through mammals and orthologs can be found in sea squirts and sea anemone. The below table shows some orthologs found using BLAST. [9]
Species | Organism Common Name | NCBI Accession | Sequence Identity | Expected value | Length (AAs) | Gene Common Name |
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Homo sapiens | Human | CAG33659 | 100% | 8e−86 | 150 | C11orf1 |
Bos taurus | Bovine | NP_001033266.1 | 85% | 1e−70 | 149 | UPF0686 protein C11orf1 homolog |
Canis lupus familiaris | Dog | XP_536577.1 | 88% | 3e−68 | 485 | PREDICTED: hypothetical protein XP_536577 [Canis familiaris] |
Mus musculus | Mouse | NP_075972.2 | 78% | 4e−65 | 466 | hypothetical protein LOC68721 [Mus musculus] |
Ciona intestinalis | Sea Squirt | XP_002127073.1 | 49% | 3e−23 | 156 | PREDICTED: similar to predicted protein [Ciona intestinalis] |
C11orf1 is located on chromosome 11 and is neighbored by:
This protein is part of the UPF0686 superfamily. This family is characterized by the presence of a domain of unknown function (DUF)1143 shared by the family. [10] This family DUF1143 has a domain that includes almost all 149 of the 150 amino acids in the human ortholog. C11orf1 has six splicesomal variants and one unspliced variant.
The following properties of C11orf1 were predicted using bioinformatic analysis:
C11orf1 appears to be ubiquitously expressed at low levels but particularly high expression in the parathyroid. Expression data indicate expression in most tissues. [14] This gene has also been found in one experiment to be under expressed in Huntington's disease patients while SETDB1 is over-expressed. [7]
The human protein SET domain bifurcated 1, was found to be a binding partner for C11orf1 by Yeast Two Hybrid. [15]
Paired mesoderm homeobox protein 2A is a protein that in humans is encoded by the PHOX2A gene.
SOGA2, also known as Suppressor of glucose autophagy associated 2 or CCDC165, is a protein that in humans is encoded by the SOGA2 gene. SOGA2 has two human paralogs, SOGA1 and SOGA3. In humans, the gene coding sequence is 151,349 base pairs long, with an mRNA of 6092 base pairs, and a protein sequence of 1586 amino acids. The SOGA2 gene is conserved in gorilla, baboon, galago, rat, mouse, cat, and more. There is distant conservation seen in organisms such as zebra finches and anoles. SOGA2 is ubiquitously expressed in humans, with especially high expression in brain, colon, pituitary gland, small intestine, spinal cord, testis and fetal brain.
TCAIM is a protein that in humans is encoded by the TCAIM gene.
Protein CWC15 homolog is a protein that in humans is encoded by the CWC15 gene.
Intraflagellar transport protein 46 homolog is a protein that in humans is encoded by the IFT46 gene.
Transmembrane protein 53, or TMEM53, is a protein that is encoded on chromosome 1 in humans. It has no paralogs but is predicted to have many orthologs across eukaryotes.
MORN1 containing repeat 1, also known as Morn1, is a protein that in humans is encoded by the MORN1 gene.
Family with sequence similarity 167, member A is a protein in humans that is encoded by the FAM167A gene located on chromosome 8. FAM167A and its paralogs are protein encoding genes containing the conserved domain DUF3259, a protein of unknown function. FAM167A has many orthologs in which the domain of unknown function is highly conserved.
Transmembrane protein 134 is a protein encoded by the TMEM134 gene. TMEM134 does not have any other known aliases. There are two transmembrane domains and a domain of unknown function (DUF872). Evolutionary, the majority of the organisms that have this gene are primates and mammals, although there are some organisms dating back to Drosophila and C. elegans. Through current research, there has not been any confirmed function of TMEM134.
Uncharacterized protein C14orf80 is a protein which in humans is encoded by the chromosome 14 open reading frame 80, C14orf80, gene.
Transmembrane protein 268 is a protein that in humans is encoded by TMEM268 gene. The protein is a transmembrane protein of 342 amino acids long with eight alternative splice variants. The protein has been identified in organisms from the common fruit fly to primates. To date, there has been no protein expression found in organisms simpler than insects.
Vexin is a protein encoded by VXN gene. VXN is found to be highly expressed in regions of the brain and spinal cord.
Family with sequence similarity 221 member A is a protein in humans that is encoded by the FAM221A gene. FAM221A is a gene that is not yet well understood by the scientific community. However, it appears that this gene may have a role in Parkinson's disease and prostate cancer.
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.
Family with sequence 98, member C or FAM98C is a gene that encodes for FAM98C has two aliases FLJ44669 and hypothetical protein LOC147965. FAM98C has two paralogs in humans FAM98A and FAM98B. FAM98C can be characterized for being a Leucine-rich protein. The function of FAM98C is still not defined. FAM98C has orthologs in mammals, reptiles, and amphibians and has a distant orhtologs in Rhinatrema bivittatum and Nanorana parkeri.
Zinc Finger Protein 821, also known as ZNF821, is a protein encoded by the ZNF821 gene. This gene is located on the 16th chromosome and is expressed highly in the testes, moderately expressed in the brain and low expression in 23 other tissues. The protein encoded is 412 amino acids long with 2 Zinc Finger motifs and a 23 amino acid long STPR domain.
Coiled-coil domain-containing 184 (CCDC184) is a protein which, in humans, is encoded by the CCDC184 gene
Family with sequence similarity 13 member B is a protein which in humans is encoded by the FAM13B gene, also known as C5ORF5. The FAM13B gene is found in vertebrates and jawed fish. FAM13B is expressed ubiquitously in human tissues and has been linked to maglinant myelomas susceptibility to atrial fibrillation, a cardiac arrhythmia.
Ankyrin Repeat And MYND Domain Containing 1 (ANKMY1) is a protein that in humans is encoded by the ANKMY1 gene. Known aliases of ANKMY1 include Zinc Finger Myeloid, Nervy and DEAF-1 or ZMYND13.
C11ORF97, or Chromosome 11 Open Reading Frame 97, is a protein which in humans is encoded by the C11ORF97 gene. It is hypothesized to localize to the cytoplasm, and plays a role in the ciliary basal body. Based on its protein interactions, it is thought to have a role in Lemierre's Syndrome and Hepatic Coma.