PCDH11Y | |||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||
Aliases | PCDH11Y , PCDH-PC, PCDH22, PCDHX, PCDHY, protocadherin 11 Y-linked | ||||||||||||||||||||||||
External IDs | OMIM: 400022 GeneCards: PCDH11Y | ||||||||||||||||||||||||
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Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | Chr Y: 5 – 5.74 Mb | n/a | |||||||||||||||||||||||
PubMed search | [2] | n/a | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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PCDH11Y is a gene unique to Homo males that encodes Protocadherin 11Y, a protein that guides the development of nerve cells. PCDH11X, located on the X chromosome, is common, in both sexes, to humans and our nearest relative, the chimpanzee; however, PCDH11Y, located on the Y chromosome, is unique to males. [3]
In terms of human evolution, it has been estimated that pcdh11x "gene jumped" from X to Y around three million years ago; coincident with increased human brain size and the first use of tools. Furthermore, around 120,000 to 200,000 years ago, the PCDH11Y gene was able to further transform, splitting in half and reversing its position. [4]
PCDH11X/Y are cadherin family genes. They make proteins, involved in signalling, that attach to the surface of nerve cells. [4] PCDH11X and PCDH11Y, respond in different ways to Retinoic acid, a chemical involved in the development of embryos. The acid stimulates the activity of PCDH11Y but suppresses PCDH11X. This is likely one of the explanations for the differences between the brains of men and women. [3]
Psychiatrist, professor Tim Crow, also believes the gene explains lateralisation. Humans have "lateralised" brains, in which the different sides became specialised for particular jobs. For instance 90% of people will use their right hands for fiddly tasks. A chimpanzee is just as likely to use either hand. It also explains why, for right-handed people, linguistic functions are concentrated on the left side of the brain. [3]
Forkhead box protein P2 (FOXP2) is a protein that, in humans, is encoded by the FOXP2 gene. FOXP2 is a member of the forkhead box family of transcription factors, proteins that regulate gene expression by binding to DNA. It is expressed in the brain, heart, lungs and digestive system.
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals, and is found in both males and females. It is a part of the XY sex-determination system and X0 sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery.
The Y chromosome is one of two sex chromosomes (allosomes) in mammals, including humans, and many other animals. The other is the X chromosome. Y is normally the sex-determining chromosome in many species, since it is the presence or absence of Y that typically determines the male or female sex of offspring produced in sexual reproduction. In mammals, the Y chromosome contains the gene SRY, which triggers male development. The DNA in the human Y chromosome is composed of about 59 million base pairs. The Y chromosome is passed only from father to son. With a 30% difference between humans and chimpanzees, the Y chromosome is one of the fastest-evolving parts of the human genome. The human Y chromosome carries an estimated 100-200 genes, with between 45 and 73 of these protein-coding. All single-copy Y-linked genes are hemizygous except in cases of aneuploidy such as XYY syndrome or XXYY syndrome.
Abnormal spindle-like microcephaly-associated protein also known as abnormal spindle protein homolog or Asp homolog is a protein that in humans is encoded by the ASPM gene. ASPM is located on chromosome 1, band q31 (1q31). The ASPM gene contains 28 exons and codes for a 3477 amino‐acid‐long protein. The ASPM protein is conserved across species including human, mouse, Drosophila, and C. elegans. Defective forms of the ASPM gene are associated with autosomal recessive primary microcephaly.
The Chimpanzee Genome Project is an effort to determine the DNA sequence of the chimpanzee genome. It is expected that by comparing the genomes of humans and other apes, it will be possible to better understand what makes humans distinct from other species from a genetic perspective. It will also aid in the study of diseases that affect various primate species.
Myelin protein zero is a single membrane glycoprotein which in humans is encoded by the MPZ gene. P0 is a major structural component of the myelin sheath in the peripheral nervous system (PNS). Myelin protein zero is expressed by Schwann cells and accounts for over 50% of all proteins in the peripheral nervous system, making it the most common protein expressed in the PNS. Mutations in myelin protein zero can cause myelin deficiency and are associated with neuropathies like Charcot–Marie–Tooth disease and Dejerine–Sottas disease.
Gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32) is a transmembrane protein that in humans is encoded by the GJB1 gene. Gap junction beta-1 protein is a member of the gap junction connexin family of proteins that regulates and controls the transfer of communication signals across cell membranes, primarily in the liver and peripheral nervous system.
GPR113 is a gene that encodes the Probable G-protein coupled receptor 113 protein.
Homeobox protein Hox-C8 is a protein that in humans is encoded by the HOXC8 gene.
Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene. This gene encodes a member of the SOX family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator.
Fatty acid binding protein 7, brain, is a human gene.
Aldolase C, fructose-bisphosphate, is an enzyme that, in humans, is encoded by the ALDOC gene on chromosome 17. This gene encodes a member of the class I fructose-bisphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose 1,6-bisphosphate and fructose-1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde 3-phosphate or glyceraldehyde, respectively.[provided by RefSeq, Jul 2008]
Protocadherin 11 X-linked, also known as PCDH11X, is a protein which in humans is encoded by the PCDH11X gene.
Protocadherin-1 is a protein that in humans is encoded by the PCDH1 gene.
Protocadherin-8 is a protein that in humans is encoded by the PCDH8 gene.
Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.
Transmembrane protein 63A is a protein that in humans is encoded by the TMEM63A gene. The mature human protein is approximately 92.1 kilodaltons (kDa), with a relatively high conservation of mass in orthologs. The protein contains eleven transmembrane domains and is inserted into the membrane of the lysosome. BioGPS analysis for TMEM63A in humans shows that the gene is ubiquitously expressed, with the highest levels of expression found in T-cells and dendritic cells.
Chitinase domain-containing protein 1 (CHID1) is a highly conserved protein of unknown function located on the short (p) arm of chromosome 11 near the telomere. The protein has 27 introns, which allows for many isoforms of this gene. It has several aliases, the most common of which is Stabilin-1 interacting chitinase-like protein (SI-CLP). As indicated by the alias, CHID1 is known to interact with the protein STAB1. CHID1 is expressed ubiquitously at levels nearly 6 times the average gene, and is conserved very far back to organisms such as Caenorhabditis elegans and possibly some prokaryotes. This protein is known to have carbohydrate binding sites, which could be involved in carbohydrate catabolysis.
Family with sequence similarity 149, member A is a protein that in humans is encoded by the FAM149A gene. It is well conserved in primates, dog, cow, mouse, rat, and chicken. It has one paralog, FAM149B.
Uncharacterized protein C16orf86 is a protein in humans that is encoded by the C16orf86 gene. It is mostly made of alpha helices and it is expressed in the testes, but also in other tissues such as the kidney, colon, brain, fat, spleen, and liver. For the function of C16orf86, it is not well understood, however it could be a transcription factor in the nucleus that regulates G0/G1 in the cell cycle for tissues such as the kidney, brain, and skeletal muscles as mentioned in the DNA microarray data below in the gene level regulation section.
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