FAM135B

{{Short description|Protein-coding gene in the species Homo sapiens}}

FAM135B is a human gene coding for a protein of unknown function.{{cite web|title=FAM135B family with sequence similarity 135, member B [Homo sapiens] |url=https://www.ncbi.nlm.nih.gov/gene/51059|publisher=NCBI|access-date=1 May 2011}} 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. 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.[https://www.ncbi.nlm.nih.gov/UniGene/ESTProfileViewer.cgi?uglist=Hs.126024 EST Profile - Hs.126024] Within the brain, expression is apparent within the motor nucleus of trigeminal{{cite web |title=1700010C24Rik |url=http://mouse.brain-map.org/welcome.do;jsessionid=9B5AC88CD6910F290B0AC4B5EAF47998 |publisher=Allen Brain Atlas |url-status=dead |archive-url=https://web.archive.org/web/20111007072449/http://mouse.brain-map.org/welcome.do%3Bjsessionid%3D9B5AC88CD6910F290B0AC4B5EAF47998 |archive-date=2011-10-07 }} 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.

File:Visual Representation of expression in mouse brain.png

Interactions

FAM135B has shown to interact with KAT5, a gene that encodes for a histone acetyltransferase{{cite journal |vauthors=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 | title = A human protein-protein interaction network: a resource for annotating the proteome | journal = Cell | volume = 122 | issue = 6 | pages = 957–68 |date=September 2005 | pmid = 16169070 | doi = 10.1016/j.cell.2005.08.029 | hdl = 11858/00-001M-0000-0010-8592-0 | s2cid = 8235923 | hdl-access = free }} 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.

File:FAM135BProteinLayout.png

Clinical significance

FAM135B has shown to be expressed in individuals with extrapulmonary tuberculosis.{{cite journal |vauthors=Oki NO, Motsinger-Reif AA, Antas PR, Levy S, Holland SM, Sterling TR | title = Novel human genetic variants associated with extrapulmonary tuberculosis: a pilot genome wide association study | journal = BMC Res Notes | volume = 4 | pages = 28 | year = 2011 | pmid = 21281516 | pmc = 3041678 | doi = 10.1186/1756-0500-4-28 | doi-access = free }}