Property Summary

NCBI Gene PubMed Count 27
PubMed Score 15.33
PubTator Score 133.91

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Expression

  Differential Expression (6)

Disease log2 FC p
astrocytic glioma -1.300 0.035
psoriasis -1.800 0.000
intraductal papillary-mucinous carcinoma... 1.400 0.001
intraductal papillary-mucinous neoplasm ... 1.900 0.001
lung cancer 1.400 0.000
ovarian cancer 1.800 0.000

Synonym

Accession Q6PD74 B4DG44 Q6FI86 Q7Z5X9 Q9H0P1 Q9HAK0
Symbols p34
KPPP1
PPKP1
PPKP1A

Gene

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG
Pig OMA EggNOG
Opossum EggNOG Inparanoid
Platypus OMA EggNOG
Chicken OMA EggNOG
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

Gene RIF (13)

PMID Text
25771163 we report two unrelated Japanese punctate palmoplantar keratoderma type 1 pedigrees harboring the novel AAGAB mutation c.191_194del-CAAA.
24588319 results reveal one novel and two recurrent mutations in AAGAB providing further evidence of its role in the pathogenesis of palmoplantar keratoderma.
24573067 Case Report: novel AAGAB mutation in punctate palmoplantar keratoderma type I.
24390136 families with type 1 punctate palmoplantar keratoderma have distinct mutations in AAGAB
24289292 This observation suggests either the existence of a CDH-associated gene in the vicinity of AAGAB, or a hitherto unrecognized role for p34 during skeletal development.
24162853 case Report: deletion mutation in AAGAB causing punctate palmoplantar keratoderma in Chinese family.
23743648 analysis of the AAGAB genotype in 12 Punctate palmoplantar keratoderma (PPKP1) patients from 6 independent kindreds of Scottish, English, and Mexican ancestry
23633024 We identified six mutations in the AAGAB gene in Chinese punctate palmoplantar keratoderma patients.
23563198 We report the characteristics of a heterozygous AAGAB splice-site mutation in primary keratinocytes.
23448244 Results identify novel loss-of-function mutation within AAGAB associated with PPPK was identified from two Chinese pedigrees.
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AA Sequence

MAAGVPCALVTSCSSVFSGDQLVQHILGTEDLIVEVTSNDAVRFYPWTIDNKYYSADINLCVVPNKFLVT      1 - 70
AEIAESVQAFVVYFDSTQKSGLDSVSSWLPLAKAWLPEVMILVCDRVSEDGINRQKAQEWCIKHGFELVE     71 - 140
LSPEELPEEDDDFPESTGVKRIVQALNANVWSNVVMKNDRNQGFSLLNSLTGTNHSIGSADPCHPEQPHL    141 - 210
PAADSTESLSDHRGGASNTTDAQVDSIVDPMLDLDIQELASLTTGGGDVENFERLFSKLKEMKDKAATLP    211 - 280
HEQRKVHAEKVAKAFWMAIGGDRDEIEGLSSDEEH                                       281 - 315
//

Text Mined References (33)

PMID Year Title
25919143 2015 Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work.
25771163 2015 Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA.
25416956 2014 A proteome-scale map of the human interactome network.
24588319 2014 New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.
24573067 2015 Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.
24390136 2014 Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.
24289292 2014 A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.
24162853 2014 A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma.
23743648 2013 Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.
23633024 2013 Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.
More...