FAM135B

FAM135B is a human gene coding for a protein of unknown function.[5] It is well conserved in primates, rodents, zebra fish. It has one paralog, FAM135A.

FAM135B
Identifiers
AliasesFAM135B, C8ORFK32, family with sequence similarity 135 member B
External IDsMGI: 1917613 HomoloGene: 66605 GeneCards: FAM135B
Gene location (Human)
Chr.Chromosome 8 (human)[1]
Band8q24.23Start138,130,023 bp[1]
End138,497,261 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

51059

70363

Ensembl

ENSG00000147724

ENSMUSG00000036800

UniProt

Q49AJ0

Q9DAI6

RefSeq (mRNA)

NM_015912
NM_001362965

NM_177819

RefSeq (protein)

NP_056996
NP_001349894

NP_808487

Location (UCSC)Chr 8: 138.13 – 138.5 MbChr 15: 71.43 – 71.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gene

FAM135B is located on the long arm of Chromosome 8 in humans on the anti-sense located at 24.23.[5] 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.[6] Within the brain, expression is apparent within the motor nucleus of trigeminal[7] 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.[6]

Interactions

FAM135B has shown to interact with KAT5, a gene that encodes for a histone acetyltransferase[8] 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.[5]

Graphical representation of protein FAM135B

Clinical significance

FAM135B has shown to be expressed in individuals with extrapulmonary tuberculosis.[9]

References

  1. GRCh38: Ensembl release 89: ENSG00000147724 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000036800 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "FAM135B family with sequence similarity 135, member B [Homo sapiens]". NCBI. Retrieved 1 May 2011.
  6. EST Profile - Hs.126024
  7. "1700010C24Rik". Allen Brain Atlas. Archived from the original on 2011-10-07.
  8. 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. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
  9. 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.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.