FAM135B
| FAM135B | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | FAM135B, C8ORFK32, family with sequence similarity 135 member B | |||||
| External IDs | MGI: 1917613 HomoloGene: 66605 GeneCards: FAM135B | |||||
| Genetically Related Diseases | ||||||
| periodontitis[1] | ||||||
| Orthologs | ||||||
| Species | Human | Mouse | ||||
| Entrez | ||||||
| Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 8: 138.13 – 138.5 Mb | Chr 15: 71.45 – 71.73 Mb | ||||
| PubMed search | [2] | [3] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse |
FAM135B is a human gene coding for a protein of unknown function.[4] It is well conserved in primates, rodents, zebra fish. It has one paralog, FAM135A.
Gene
FAM135B is located on the long arm of Chromosome 8 in humans on the anti-sense located at 24.23.[4] The following genes are near FAM135B on the chromosome:
- COL22A1: Collagen producing gene that is a cell adhesion ligand for skin epithelial cells and fibroblast
- FLJ45972: Gene function is unknown
- KCNK9: Gene that encodes for a two pore potassium channel
Expression
FAM135B is expressed in the brain, ear, eye, pancreas and testis.[5] Within the brain, expression is apparent within the motor nucleus of trigeminal[6] In addition, it is mainly expressed in normal health states, although it has shown moderate expression in glioma, non-neoplasima as well as expression in germ cell tumors.[5]
Interactions
FAM135B has shown to interact with KAT5, a gene that encodes for a histone acetyltransferase[7] through yeast two-hybrid experimentation.
Protein
The protein encoded on FAM135 is 1406 amino acids long. The protein contains a region called DUF676, believed to be a putative serine esterase as well as two protein regions called DUF3657.[4]
Clinical significance
FAM135B has shown to be expressed in individuals with extrapulmonary tuberculosis.[8]
References
- ↑ "Diseases that are genetically associated with FAM135B view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 3 "FAM135B family with sequence similarity 135, member B [Homo sapiens]". NCBI. Retrieved 1 May 2011.
- 1 2 EST Profile - Hs.126024
- ↑ "1700010C24Rik". Allen Brain Atlas.
- ↑ Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (September 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
- ↑ Oki NO, Motsinger-Reif AA, Antas PR, Levy S, Holland SM, Sterling TR (2011). "Novel human genetic variants associated with extrapulmonary tuberculosis: a pilot genome wide association study". BMC Res Notes. 4: 28. doi:10.1186/1756-0500-4-28. PMC 3041678
. PMID 21281516.