KIAA0895L

KIAA0895-like
Identifiers
Symbol KIAA0895L
External IDs MGI: 1921606 HomoloGene: 47588 GeneCards: KIAA0895L Gene
Orthologs
Species Human Mouse
Entrez 653319 74356
Ensembl ENSG00000196123 ENSMUSG00000014837
UniProt Q68EN5 Q810A5
RefSeq (mRNA) NM_001040715 NM_001166394
RefSeq (protein) NP_001035805 NP_001159866
Location (UCSC) Chr 16:
67.18 – 67.18 Mb
Chr 8:
105.28 – 105.29 Mb
PubMed search

Uncharacterized protein KIAA0895-like also known as LOC653319, is a protein that in humans is encoded by the KIAA0895L gene.[1]

Gene

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]

Gene neighborhood of KIAA0895L.

Species distribution

Time of ortholog split of KIAA0895L.
Multiple sequence alignment of KIAA0895L and its homologs.

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]

The known orthologs of KIAA0895L are listed below:[11][12]

  • 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

Domain of unknown function 1704
Identifiers
Symbol DUF1704
Pfam PF08014
InterPro IPR012548

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]

KIAA0895L's conserved domain and motif.

Predicted post translational modifications

The following is a list of predicted post translational modifications found for KIAA0895L.[18] 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

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.

Notes and references

  1. "Entrez Gene: KIAA0895-like".
  2. Genecards bin/cards/carddisp.pl?gene=KIAA0895L&search=KIAA0895L
  3. NCBI
  4. NCBI Entrez Gene
  5. UCSC Genome Bioinformatics
  6. Genomatix
  7. 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  8. BLAST (Basic Local Alignment Search Tool)
  9. KEGG
  10. KEGG
  11. SDBC(San Diego Supercomputer Center Biology Workbench)
  12. 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.
  13. Genecards bin/cards/carddisp.pl?gene=KIAA0895L&search=KIAA0895L
  14. KEGG(Kyoto Encyclopedia of Genes and Genomes)
  15. Dotlet(My Hits)
  16. 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.
  17. BLAST(Basic Local Alignment Search Tool)
  18. Swiss Institute of Bioinformatics, ExPASy
  19. Genecards
  20. NCBI GEO (National Center for Biotechnology Information Gene Expression Omnibus)
  21. 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.
This article is issued from Wikipedia - version of the Sunday, March 20, 2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.