| KIAA0895L | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | KIAA0895L, KIAA0895 like | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1921606 HomoloGene: 47588 GeneCards: KIAA0895L | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Uncharacterized protein KIAA0895-like also known as LOC653319, is a protein that in humans is encoded by the KIAA0895L gene.[5]
Gene[edit]
KIAA0895L is located at q22.1 on chromosome 16 of the human genome.[6] Its genomic DNA consists of 8,379 base pairs.[7] KIAA0895L is located between EXOC3L and E2F4 on the right, and NOL3 and HSF4 on the left.[8] The promoter for KIAA0895L is located on chromosome 16 and spans 67217367-67218383bp.[9][10]
KIAA0895L was first documented by the Mammalian Gene Collection Program Team in 2002.[11] There are several patents on KIAA0895L, two of those being patent US 6943241 and patent EP1308459.[12]
Species distribution[edit]
KIAA0895L orthologs can be found in all mammals.[13] It is not found in plants, archaea, or fungi. KIAA0895L has a single paralog, known as KIAA0895.[14]
The known orthologs of KIAA0895L are listed below:[15][16]
- Chimpanzee – LOC741288
- Rhesus monkey – LOC696623
- Dog – LOC489765
- Horse – LOC100053028
- Giant panda – PANDA_006923
- Cow – LOC512420
- Norway rat – LOC688736
- Zebra finch – LOC100223241
- Chicken – LOC415660
- Mouse – LOC74356
- Opossum – LOC100019983
- Puffer fish – Unnamed
- Sea squirt – LOC100177006
- Platypus – LOC100078127
- Zebrafish – LOC562097
- Frog – LOC100135412
- Sea urchin – KIAA0895
- Ciliated protozoa – TTherm_01042050
- Plasmodium – PY05482
- Trichoplax adherens – TRIADDRAFT_62861
- Kordia – KAOT1_03617
Structure[edit]
| Domain of unknown function 1704 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbol | DUF1704 | ||||||||
| Pfam | PF08014 | ||||||||
| InterPro | IPR012548 | ||||||||
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KIAA0895L is composed of 471 amino acids (53.5kDa).[17] A proline-rich region was also revealed at 14-65 amino acids.[18] There is also an area of low complexity at 2913-2917 bp in the 3’ UTR region.[19][20] There is a conserved domain of unknown function, known as DUF1704, located at 1390-2083 bp.[21]
Predicted post translational modifications[edit]
The following is a list of predicted post translational modifications found for KIAA0895L.[22] These are predicted in all mammalian orthologs in the public sequence database.
| type of modification | residues modified |
|---|---|
| O-GlaNAc glycosylation | T19, T96, T174, and T314 |
| Ser, Thr, and Tyr phosphorylation | S16, S20, S23, S31, S80, S82, S85, S88, S136, S349, S419, T96, T112, T125, T284, T379, T406, Y84, Y360, and Y420 |
| Kinase-specific phosphorylation | T96 and T125 |
Interacting proteins[edit]
No proteins that interact with KIAA0895L or its homolog have yet been identified.
Tissue distribution[edit]
KIAA0895L is expressed in many tissues of the body such as brain, testis, mammary glands, bladder, and the eye.[23]
Clinical significance[edit]
KIAA0895L has been shown to be up regulated[24] 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[25] as well as in cells with a 15q11-q13 mutation.
Notes and references[edit]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000196123 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014837 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: KIAA0895-like".
- ^ Genecards bin/cards/carddisp.pl?gene=KIAA0895L&search=KIAA0895L[permanent dead link]
- ^ NCBI
- ^ NCBI Entrez Gene
- ^ UCSC Genome Bioinformatics
- ^ "Genomatix". Archived from the original on 2021-12-02. Retrieved 2010-04-23.
- ^ Strausberg RL, Feingold EA, Grouse LH, et al. (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- ^ BLAST (Basic Local Alignment Search Tool)
- ^ KEGG
- ^ KEGG
- ^ SDBC(San Diego Supercomputer Center Biology Workbench)
- ^ Higgins DG, Bleasby AJ, Fuchs R (April 1992). "CLUSTAL V: improved software for multiple sequence alignment". Comput. Appl. Biosci. 8 (2): 189–91. doi:10.1093/bioinformatics/8.2.189. PMID 1591615.
- ^ Genecards bin/cards/carddisp.pl?gene=KIAA0895L&search=KIAA0895L[permanent dead link]
- ^ KEGG(Kyoto Encyclopedia of Genes and Genomes)
- ^ Dotlet(My Hits)
- ^ Junier T, Pagni M (February 2000). "Dotlet: diagonal plots in a web browser". Bioinformatics. 16 (2): 178–9. doi:10.1093/bioinformatics/16.2.178. PMID 10842741.
- ^ BLAST(Basic Local Alignment Search Tool)
- ^ Swiss Institute of Bioinformatics, ExPASy [1]
- ^ Genecards
- ^ NCBI GEO (National Center for Biotechnology Information Gene Expression Omnibus)[2]
- ^ Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST, Geschwind DH (July 2007). "Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways". Hum. Mol. Genet. 16 (14): 1682–98. doi:10.1093/hmg/ddm116. PMID 17519220.