Microtubule-associated tyrosine carboxypeptidase 1 is an enzyme that in humans is encoded by the MATCAP1gene (previously KIAA0895L).[5] It is a protease, which removes a tyrosine from the (C-terminal) end of cytoskeleton proteins called alpha tubulin.[6] In this way, it helps regulate the function and dynamics of alpha tubulin.[6]
Gene
MATCAP1 is located at q22.1 on chromosome 16 of the human genome.[7] Its genomic DNA consists of 8,379 base pairs.[8] MATCAP1 is located between EXOC3L and E2F4 on the right, and NOL3 and HSF4 on the left.[9] The promoter for MATCAP1 is located on chromosome 16 and spans 67217367-67218383bp.[10][11]
MATCAP1 was first documented by the Mammalian Gene Collection Program Team in 2002.[12] There are several patents on MATCAP1, two of those being patent US 6943241 and patent EP1308459.[13]
Species distribution
MATCAP1 orthologs can be found in all mammals.[14] It is not found in plants, archaea, or fungi. MATCAP1 has a single paralog, known as MATCAP2.[15]
MATCAP1 is composed of 471 amino acids (53.5kDa).[18] A proline-rich region was also revealed at 14-65 amino acids.[19] There is also an area of low complexity at 2913-2917 bp in the 3’ UTR region.[20][21] There is a conserved domain of unknown function, known as DUF1704, located at 1390-2083 bp.[22]
MATCAP1 is expressed in many tissues of the body such as brain, testis, mammary glands, bladder, and the eye.[24]
Clinical significance
MATCAP1 has been shown to be up regulated[25] in lymphoblastoid cells from males with autism that is caused by an expansion of a CGG repeat in the promoter region of the fragile X mental retardation 1 gene located at Xq27.3[26] as well as in cells with a 15q11-q13 mutation.
