Property Summary

NCBI Gene PubMed Count 158
Grant Count 50
R01 Count 29
Funding $8,708,566.27
PubMed Score 250.21
PubTator Score 243.32

Knowledge Summary

Patent

No data available

Expression

Gene RIF (144)

PMID Text
26773575 A mutation (c.376G>A, p.A126T) was found in all 5 family members affected with Wolfram syndrome in homozygous state and in both parents in heterozygous state.
26426397 Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus.
26169481 Data suggest that a novel mutation in WFS1 [c.13481350 del ins TAG (p.His450*)] causes Wolfram-like syndrome in homozygous daughter with maternal uniparental disomy of chromosome 4; heterozygous mother is unaffected. [CASE REPORT]
25764693 Here we review clinical features, molecular mechanisms and mutations of WFS1 gene that relate to this syndrome.[review]
25740874 Early-onset Central diabetes insipidus is associated with de novo mutations of the AVP gene and with hereditary WFS1 gene changes.
25274773 Results reveal a role for WFS1 in the negative regulation of SERCA and provide further insights into the function of WFS1 in calcium homeostasis.
25255707 The analysis of our case, in the light of the most recent literature, suggests a possible role for WFS1 gene in the development of certain brain structures during the fetal period.
25250959 A novel missense mutation c.2389G > A (GAC -AAC) in WFS1 gene causes non-syndromic hearing loss in all, rather than in low or high, frequencies.
25211237 This study emphasizes the clinical and genetic heterogeneity in patients with WFS. Genotype-phenotype correlations may exist in patients with WFS1 mutations, as demonstrated by the disease onset.
25074416 No association was found between wolframin gene H611R polymorphism and mood disorders.
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AA Sequence

MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRS      1 - 70
RERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRRE     71 - 140
AVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEH    141 - 210
DGGAQPGPVPKSLQKQRRMLERLVSSESKNYIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPE    211 - 280
DLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIPTHHINALIFFFIVSNLTIDFFAFFIPLVIF    281 - 350
YLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWNHLEPYAHFLLSVFFVIFSFP    351 - 420
IASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPYLKVLGQTFIT    421 - 490
VPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMWCELSVVILLESTGLGLLRAS    491 - 560
IGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMVKSLTRS    561 - 630
SMVKLILVWLTAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTW    631 - 700
TGRFKYVRVTDIDNSAESAINMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKF    701 - 770
DRYKFEITVGMPFSSGADGSRSREEDDVTKDIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVF    771 - 840
ELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFDFFFFPFLSAA                        841 - 890
//

Text Mined References (166)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26773575 2016 c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.
26426397 2015 Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus.
26169481 2015 Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome.
26091039 2015 A Single Kinase Generates the Majority of the Secreted Phosphoproteome.
25764693 2015 [Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].
25740874 2015 Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations.
25274773 2015 Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression.
25255707 2014 Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?
25250959 2014 Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.
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