Property Summary

NCBI Gene PubMed Count 54
Grant Count 39
R01 Count 29
Funding $3,999,226.6
PubMed Score 115.82
PubTator Score 63.02

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

 GO Function (1)

Pathway (1)

Gene RIF (22)

PMID Text
26812017 ANKS4B, and MYO7B form a stable ternary complex for anchoring microvilli tip-link cadherins
24416283 Description of the spectrum of mutations in USHIC in 374 families with autosomal recessive, non-syndromic hearing loss from India.
24250806 harmonin and villin autoantibodies are sensitive and specific markers of IPEX, differentiate IPEX, including atypical cases, from other early childhood disorders associated with enteropathy
23665419 We localized proteins encoded by the top two regulated genes, TBL1X and USH1C, using immunohistochemistry to placental stem and anchoring villi associated with active contractile function.
23251578 This is the first report of a mutation in a known USH1 gene that causes late onset rather than congenital sensorineural hearing loss.
22879593 Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia
22661463 The data highlight the ability of ZFNs to induce targeted homologous recombination and mediate gene repair in USH.
22219650 Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1.
21487335 We report a novel molecular cause of sector retinitis pigmentosa associated with hearing loss representing a new phenotype associated with mutations in the USH1C gene.
21203349 Mutations in USH1C are responsible for 1.5% of Usher syndrome type I disease in patients of Spanish origin.
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AA Sequence

MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKH      1 - 70
QVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGY     71 - 140
SISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEK    141 - 210
KVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKS    211 - 280
SRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAA    281 - 350
EENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDG    351 - 420
GTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAA    421 - 490
ERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF            491 - 552
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Text Mined References (55)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26812018 2016 ANKS4B Is Essential for Intermicrovillar Adhesion Complex Formation.
26812017 2016 Mechanistic Basis of Organization of the Harmonin/USH1C-Mediated Brush Border Microvilli Tip-Link Complex.
25416956 2014 A proteome-scale map of the human interactome network.
24725409 2014 Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion.
24618850 2014 Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
24416283 2014 Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
24250806 2013 Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome.
23704327 2013 The giant spectrin ?V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.
23665419 Prenatal smoke exposure: effects on infant auditory system and placental gene expression.
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