Property Summary

NCBI Gene PubMed Count 16
Grant Count 1
Funding $39,750
PubMed Score 90.05
PubTator Score 36.82

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9H6L5 Q69YN8 Q9H6K6 Q9H764 Q9NXM8
Symbols JK1
JK-1

Gene

 Grant Application (1)

Gene RIF (11)

PMID Text
26040720 selective endoplasmic reticulum (ER)-phagy via FAM134 proteins is indispensable for mammalian cell homeostasis and controls ER morphology and turnover in mice and humans
24973512 Low FAM134B expression is associated with colorectal cancer.
24970562 Results show the interplay between promoter SNPs of CD39 and FAM134B results in an intercellular epistasis which influences the risk of a complex inflammatory disease.
24927874 FAM134B represses cell migration in colon cancer.FAM134B has functional role in the pathogenesis of colon cancer.
24825067 The changes in JK1 DNA copy number associated with progression of colorectal neoplasms.A decrease in JK-1 copy number was correlated with a shorter disease-free survival time.
24327336 Homozygous FAM134B mutation was found in Turkish siblings with hereditary sensory neuropathy type 2.
21127458 The FAM134B and TNFRSF19 showed a dramatically strong synergistic epistasis in explaining the genetic dissection of the susceptibility to complex vascular dementia.
21115472 case report of homozygous nonsense mutation p.Q145X causing severe hereditary sensory neuropathy
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19838196 show that loss-of-function mutations in FAM134B, encoding a newly identified cis-Golgi protein, cause hereditary sensory and autonomic neuropathy type II.
More...

AA Sequence

MASPAPPEHAEEGCPAPAAEEQAPPSPPPPQASPAERQQQEEEAQEAGAAEGAGLQVEEAAGRAAAAVTW      1 - 70
LLGEPVLWLGCRADELLSWKRPLRSLLGFVAANLLFWFLALTPWRVYHLISVMILGRVIMQIIKDMVLSR     71 - 140
TRGAQLWRSLSESWEVINSKPDERPRLSHCIAESWMNFSIFLQEMSLFKQQSPGKFCLLVCSVCTFFTIL    141 - 210
GSYIPGVILSYLLLLCAFLCPLFKCNDIGQKIYSKIKSVLLKLDFGIGEYINQKKRERSEADKEKSHKDD    211 - 280
SELDFSALCPKISLTVAAKELSVSDTDVSEVSWTDNGTFNLSEGYTPQTDTSDDLDRPSEEVFSRDLSDF    281 - 350
PSLENGMGTNDEDELSLGLPTELKRKKEQLDSGHRPSKETQSAAGLTLPLNSDQTFHLMSNLAGDVITAA    351 - 420
VTAAIKDQLEGVQQALSQAAPIPEEDTDTEEGDDFELLDQSELDQIESELGLTQDQEAEAQQNKKSSGFL    421 - 490
SNLLGGH                                                                   491 - 497
//

Text Mined References (19)

PMID Year Title
26040720 2015 Regulation of endoplasmic reticulum turnover by selective autophagy.
24973512 2014 The roles of JK-1 (FAM134B) expressions in colorectal cancer.
24970562 2014 Genetic analysis of an allergic rhinitis cohort reveals an intercellular epistasis between FAM134B and CD39.
24927874 2014 JK1 (FAM134B) represses cell migration in colon cancer: a functional study of a novel gene.
24825067 2014 JK1 (FAM134B) gene and colorectal cancer: a pilot study on the gene copy number alterations and correlations with clinicopathological parameters.
24327336 2014 Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family.
22302274 2012 Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
21127458 2011 A strong synergistic epistasis between FAM134B and TNFRSF19 on the susceptibility to vascular dementia.
21115472 2012 Mutation in FAM134B causing severe hereditary sensory neuropathy.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
More...