FAM161A (FAM161 centrosomal protein A)

2014-08-01  

Identity

HGNC
LOCATION
2p15
LOCUSID
ALIAS
RP28
FUSION GENES

Other Information

Locus ID:

NCBI: 84140
MIM: 613596
HGNC: 25808
Ensembl: ENSG00000170264

Variants:

dbSNP: 84140
ClinVar: 84140
TCGA: ENSG00000170264
COSMIC: FAM161A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170264ENST00000307507F8W731
ENSG00000170264ENST00000404929Q3B820
ENSG00000170264ENST00000405894Q3B820
ENSG00000170264ENST00000418113H7C4C9
ENSG00000170264ENST00000456262F8WCZ8

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
207052792010Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.41
207052782010Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.34
250180962014Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.24
229406122012FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.20
227917512012The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association.18
245201872014Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.7
250073322016Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.7
246514772014Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.6
246646972014FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa.4
257499902015Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.4

Citation

Dessen P

FAM161A (FAM161 centrosomal protein A)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54302/fam161a