KIAA0895L is located at q22.1 on chromosome 16 of the human genome.[2] Its genomic DNA consists of 8,379 base pairs.[3] KIAA0895L is located between EXOC3L and E2F4 on the right, and NOL3 and HSF4 on the left.[4] The promoter for KIAA0895L is located on chromosome 16 and spans 67217367-67218383bp.[5][6]
KIAA0895L was first documented by the Mammalian Gene Collection Program Team in 2002.[7] There are several patents on KIAA0895L, two of those being patent US 6943241 and patent EP1308459.[8]
KIAA0895L orthologs can be found in all mammals.[9] It is not found in plants, archaea, or fungi. KIAA0895L has a single paralog, known as KIAA0895.[10]
KIAA0895L is composed of 471 amino acids (53.5kDa).[13] A proline-rich region was also revealed at 14-65 amino acids.[14] There is also an area of low complexity at 2913-2917 bp in the 3’ UTR region.[15][16] There is a conserved domain of unknown function, known as DUF1704, located at 1390-2083 bp.[17]
No proteins that interact with KIAA0895L or its homolog have yet been identified.
Tissue distribution
KIAA0895L is expressed in many tissues of the body such as brain, testis, mammary glands, bladder, and the eye.[19]
Clinical significance
KIAA0895L has been shown to be up regulated[20] 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[21] as well as in cells with a 15q11-q13 mutation.
