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= ANKRD35 = From Wikipedia, the free encyclopedia Ankyrin repeat domain 35 also known as ANKRD35 is a protein which in humans is encoded by the ANKRD35 gene. As of yet the function of ANKRD35 is not yet completely understood. According to protein atlas the highest levels of expression are in the skin, lungs, uterus, and tonsils. Most ankyrin domains are important for facilitating protein-protein interactions. ANKRD35 has repeats in the first fifth of the gene but the remaining portion still holds many secrets.

Locus
ANKRD35 is located on the 1st chromosome at location 1 q21.1 in Homo sapiens on the minus strand. It starts at 145,866,560 bp and ends at 245,885,886 bp.

General properties
The ANKRD35 protein is contains 1001 amino acid residues and consists of 14 exons. The base protein, before post-transnational modifications, weighs 109.9 kDa. The isoelectric point of this gene was estimated to be 5.75.

Composition
Compared to other human genes ANKRD35 has an excess of glutamine and glutamic acid, while also having a lack of phenyalanine and tyrosine. Glutamine is a very important amino acid involving the structure of many proteins. glutamic acid, phenyalanine, and tyrosine are all heavily involved with neurotransmitters.

Domains and secondary structure
ANKRD35 has three main types of domains. Ankryin repeats generally help with protein structure and protein-protein interactions. Coiled-coil domains can often help regulate gene expression. Low complexity domain are not yet well understood but may be assisting with protein-protein interactions.

Post-translational modifications
ANKRD35 has been predicted to have many points of phosphorylation, which could assist with activation and protein-protein interaction. In addition there were sites for glycation and sumoylation. There is also evidence to support that ANKRD35 has modifications that make it concentrated around the nucleus, mitochondria, and cytoplasm near the cell surface.

Protein interactions
Many of the proteins that interact with ANKRD35 are necessary for post-translational modification. For example, SUMO2 is needed for sumoylation and SRPK2 is used for phosphorylation.

The most notable relationship is between ANKRD35 and Vimentin (VIM). VIM is a type III intermediate filament protein. Intermediate filaments are responsible for mechanical support of the plasma membrane in cells so it's main purpose is to help maintain the structure of the cell. While the function of ANKRD35 is not completely understood, interacting with intermediate filament proteins hints that it might be involved in structural cell support.

Normal expression
ANKRD35 is expressed all throughout the human body in varying but consistent amounts. Microarray assays have revealed that ANKRD35 is seen being express in most human tissues. It's highest expression levels are in the skin, uterus, all throughout the throat regions spanning from the mouth to the lungs, and also the retina. The gene is also expressed in other areas like the small intestines, kidney, bone marrow, and colon. Most interestingly, the expression of ANKRD35 is very constant from human to human. This may indicate high regulation of the gene since very specific amounts are needed in different parts of the body.

Relationship with cancer
Some data on expression indicates that ANKRD35 expression is down regulated in cancerous cells. This may be because the ANKRD35 protein interacts with the intermediate filament VIM protein. If the gene is needed for structural support of the cell, down regulation of it could possible contribute to metastasis of cancerous cells.

Orthologs
Orthologs for the human ANKRD35 gene span all the way back to bony fishes. The actual ankryin repeat of the gene traces back to a common ancestor shared between humans and fungi.

Paralogs
There are no paralogs of the human ANKRD35 gene but the ankryin domain is seen in various other human genes.

Related gene problems[edit | edit source]

 * TAR syndrome
 * 1q21.1 deletion syndrome
 * 1q21.1 duplication syndrome

References[edit | edit source]
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 * Genes on human chromosome 1
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