Property Summary

NCBI Gene PubMed Count 25
PubMed Score 25.16
PubTator Score 18.02

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q3B820 B4DJV7 Q9H8R2
Symbols RP28

Gene

Gene RIF (13)

PMID Text
26574802 founder mutation in FAM161A p.(Arg437*) underlies approximately 2% of arRP cases in the Dutch and Belgian populations.
26246154 novel homozygous frameshift mutations of RP28-linked RP gene FAM161A in Indian population.
26113502 We screened a panel of 120 probands with recessive Retinitis Pigmentosa, and two were found to harbour biallelic FAM161A variants.
25749990 FAM161A's activities are probably not limited to ciliary tasks but also extend to more general cellular functions, highlighting possible novel mechanisms for the molecular pathology of retinal disease.
25018096 Yeast two-hybrid screening of a human retinal cDNA library revealed FAM161A as a binary interaction partner of POC1B.
25007332 Exome analysis revealed a nonsense homozygous mutation in FAM161A segregating with retinal degeneration with severe vision loss and a range of disease onset and progression.
24664697 FAM161A is a novel centrosomal-ciliary protein that likely is implicated in the regulation of microtubule-based cellular processes in the retina.
24651477 Our data indicate that mutations in FAM161A are responsible for 1% of recessive RP cases in North America, similar to the prevalence detected in Germany and unlike the data from Israel and the Palestinian territories.
24520187 an RP28 (an autosomal recessive form of retinitis pigmentosa)-linked RP family in the Palestinian population caused by a novel nonsense mutation in FAM161A, was identified.
22940612 FAM161A-associated RP can be considered as a novel retinal ciliopathy and that its molecular pathogenesis may be related to other ciliopathies.
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AA Sequence

MATSHRVAKLVASSLQTPVNPITGARVAQYEREDPLKALAAAEAILEDEEEEKVAQPAGASADLNTSFSG      1 - 70
VDEHAPISYEDFVNFPDIHHSNEEYFKKVEELKAAHIETMAKLEKMYQDKLHLKEVQPVVIREDSLSDSS     71 - 140
RSVSEKNSYHPVSLMTSFSEPDLGQSSSLYVSSSEEELPNLEKEYPRKNRMMTYAKELINNMWTDFCVED    141 - 210
YIRCKDTGFHAAEKRRKKRKEWVPTITVPEPFQMMIREQKKKEESMKSKSDIEMVHKALKKQEEDPEYKK    211 - 280
KFRANPVPASVFLPLYHDLVKQKEERRRSLKEKSKEALLASQKPFKFIAREEQKRAAREKQLRDFLKYKK    281 - 350
KTNRFKARPIPRSTYGSTTNDKLKEEELYRNLRTQLRAQEHLQNSSPLPCRSACGCRNPRCPEQAVKLKC    351 - 420
KHKVRCPTPDFEDLPERYQKHLSEHKSPKLLTVCKPFDLHASPHASIKREKILADIEADEENLKETRWPY    421 - 490
LSPRRKSPVRCAGVNPVPCNCNPPVPTVSSRGREQAVRKSEKERMREYQRELEEREEKLKKRPLLFERVA    491 - 560
QKNARMAAEKHYSNTLKALGISDEFVSKKGQSGKVLEYFNNQETKSVTEDKESFNEEEKIEERENGEENY    561 - 630
FIDTNSQDSYKEKDEANEESEEEKSVEESH                                            631 - 660
//

Text Mined References (27)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
26574802 2015 A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.
26246154 2015 Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
26113502 2015 Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.
25749990 2015 Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.
25416956 2014 A proteome-scale map of the human interactome network.
25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
25007332 2016 Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.
24664697 2014 FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa.
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