USH1C | ENSG00000006611 | NCBI 10083

Details for: USH1C

Gene ID: 10083

Symbol: USH1C

Ensembl ID: ENSG00000006611

Description: USH1 protein network component harmonin

Associated with

Sensory perception
(R-HSA-9709957)
Sensory processing of sound
(R-HSA-9659379)
Sensory processing of sound by inner hair cells of the cochlea
(R-HSA-9662360)
Sensory processing of sound by outer hair cells of the cochlea
(R-HSA-9662361)
Actin filament bundle assembly
(GO:0051017)
Apical part of cell
(GO:0045177)
Brush border
(GO:0005903)
Brush border assembly
(GO:1904970)
Cilium
(GO:0005929)
Cytoplasm
(GO:0005737)
Cytoskeleton
(GO:0005856)
Cytosol
(GO:0005829)
Equilibrioception
(GO:0050957)
G2/m transition of mitotic cell cycle
(GO:0000086)
Inner ear auditory receptor cell differentiation
(GO:0042491)
Inner ear morphogenesis
(GO:0042472)
Inner ear receptor cell stereocilium organization
(GO:0060122)
Microvillus
(GO:0005902)
Parallel actin filament bundle assembly
(GO:0030046)
Photoreceptor cell maintenance
(GO:0045494)
Photoreceptor inner segment
(GO:0001917)
Photoreceptor outer segment
(GO:0001750)
Plasma membrane
(GO:0005886)
Protein-containing complex assembly
(GO:0065003)
Protein binding
(GO:0005515)
Protein localization to microvillus
(GO:1904106)
Regulation of microvillus length
(GO:0032532)
Retinal cone cell development
(GO:0046549)
Sensory perception of light stimulus
(GO:0050953)
Sensory perception of sound
(GO:0007605)
Spectrin binding
(GO:0030507)
Stereocilia ankle link complex
(GO:0002142)
Stereocilium
(GO:0032420)
Stereocilium tip
(GO:0032426)
Synapse
(GO:0045202)

Other Information

Proteins

Harmonin
A0A0S2Z4V1_HUMAN

Genular Protein ID: 4029023031

Symbol: USH1C_HUMAN

Name: Harmonin

UniProtKB Accession Codes:

Q9Y6N9 A8K423 Q7RTU8 Q96B29 Q9UM04 Q9UM17 Q9UPC3

Database IDs:

Citations:

PubMed ID: 9610721

Title: Characterization of human colon cancer antigens recognized by autologous antibodies.

PubMed ID: 9610721

DOI: 10.1002/(sici)1097-0215(19980529)76:5<652::aid-ijc7>3.0.co;2-p

PubMed ID: 10500064

Title: Identification of an autoimmune enteropathy-related 75-kilodalton antigen.

PubMed ID: 10500064

DOI: 10.1016/s0016-5085(99)70340-9

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10508479

Title: Antigens recognized by autologous antibody in patients with renal-cell carcinoma.

PubMed ID: 10508479

DOI: 10.1002/(sici)1097-0215(19991112)83:4<456::aid-ijc4>3.0.co;2-5

PubMed ID: 10973247

Title: A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

PubMed ID: 10973247

DOI: 10.1038/79171

PubMed ID: 11311560

Title: Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain protein AIE-75.

PubMed ID: 11311560

DOI: 10.1016/s0378-1119(01)00378-x

PubMed ID: 12107438

Title: Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

PubMed ID: 12107438

DOI: 10.1007/s00439-002-0732-4

PubMed ID: 12588794

Title: Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

PubMed ID: 12588794

DOI: 10.1093/hmg/ddg051

PubMed ID: 14759258

Title: An unappreciated role for RNA surveillance.

PubMed ID: 14759258

DOI: 10.1186/gb-2004-5-2-r8

PubMed ID: 16301216

Title: Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.

PubMed ID: 16301216

DOI: 10.1093/hmg/ddi417

PubMed ID: 16464467

Title: An isoform of GTPase regulator DOCK4 localizes to the stereocilia in the inner ear and binds to harmonin (USH1C).

PubMed ID: 16464467

DOI: 10.1016/j.jmb.2006.01.017

PubMed ID: 21709241

Title: Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction.

PubMed ID: 21709241

DOI: 10.1073/pnas.1104161108

PubMed ID: 24725409

Title: Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion.

PubMed ID: 24725409

DOI: 10.1016/j.cell.2014.01.067

PubMed ID: 26812018

Title: ANKS4B is essential for intermicrovillar adhesion complex formation.

PubMed ID: 26812018

DOI: 10.1016/j.devcel.2015.12.022

PubMed ID: 19297620

Title: Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23.

PubMed ID: 19297620

DOI: 10.1073/pnas.0901819106

PubMed ID: 20142502

Title: The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.

PubMed ID: 20142502

DOI: 10.1073/pnas.0911385107

PubMed ID: 26812017

Title: Mechanistic basis of organization of the Harmonin/USH1C-mediated brush border microvilli tip-link complex.

PubMed ID: 26812017

DOI: 10.1016/j.devcel.2015.12.020

Sequence Information:

Length: 552
Mass: 62211
Checksum: 7E75CEE873C57F41
Sequence:

MDRKVAREFR HKVDFLIEND AEKDYLYDVL RMYHQTMDVA VLVGDLKLVI NEPSRLPLFD 
AIRPLIPLKH QVEYDQLTPR RSRKLKEVRL DRLHPEGLGL SVRGGLEFGC GLFISHLIKG 
GQADSVGLQV GDEIVRINGY SISSCTHEEV INLIRTKKTV SIKVRHIGLI PVKSSPDEPL 
TWQYVDQFVS ESGGVRGSLG SPGNRENKEK KVFISLVGSR GLGCSISSGP IQKPGIFISH 
VKPGSLSAEV GLEIGDQIVE VNGVDFSNLD HKEAVNVLKS SRSLTISIVA AAGRELFMTD 
RERLAEARQR ELQRQELLMQ KRLAMESNKI LQEQQEMERQ RRKEIAQKAA EENERYRKEM 
EQIVEEEEKF KKQWEEDWGS KEQLLLPKTI TAEVHPVPLR KPKYDQGVEP ELEPADDLDG 
GTEEQGEQDF RKYEEGFDPY SMFTPEQIMG KDVRLLRIKK EGSLDLALEG GVDSPIGKVV 
VSAVYERGAA ERHGGIVKGD EIMAINGKIV TDYTLAEAEA ALQKAWNQGG DWIDLVVAVC 
PPKEYDDELT FF

Genular Protein ID: 3944040831

Symbol: A0A0S2Z4V1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z4V1

Database IDs:

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

Length: 533
Mass: 60329
Checksum: A9D7E121B11E2FBD
Sequence:

MDRKVAREFR HKVDFLIEND AEKDYLYDVL RMYHQTMDVA VLVGDLKLVI NEPSRLPLFD 
AIRPLIPLKH QVEYDQLTPR RSRKLKEVRL DRLHPEGLGL SVRGGLEFGC GLFISHLIKG 
GQADSVGLQV GDEIVRINGY SISSCTHEEV INLIRTKKTV SIKVRHIGLI PVKSSPDEPL 
TWQYVDQFVS ESGGVRGSLG SPGNRENKEK KVFISLVGSR GLGCSISSGP IQKPGIFISH 
VKPGSLSAEV GLEIGDQIVE VNGVDFSNLD HKEGRELFMT DRERLAEARQ RELQRQELLM 
QKRLAMESNK ILQEQQEMER QRRKEIAQKA AEENERYRKE MEQIVEEEEK FKKQWEEDWG 
SKEQLLLPKT ITAEVHPVPL RKPKYDQGVE PELEPADDLD GGTEEQGEQD FRKYEEGFDP 
YSMFTPEQIM GKDVRLLRIK KEGSLDLALE GGVDSPIGKV VVSAVYERGA AERHGGIVKG 
DEIMAINGKI VTDYTLAEAE AALQKAWNQG GDWIDLVVAV CPPKEYDDEL TFF

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: USH1C

Associated with

Other Information

Characterization of human colon cancer antigens recognized by autologous antibodies. PubMed ID: 9610721

Identification of an autoimmune enteropathy-related 75-kilodalton antigen. PubMed ID: 10500064

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

Human chromosome 11 DNA sequence and analysis including novel gene identification. PubMed ID: 16554811

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Antigens recognized by autologous antibody in patients with renal-cell carcinoma. PubMed ID: 10508479

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. PubMed ID: 10973247

Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain protein AIE-75. PubMed ID: 11311560

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. PubMed ID: 12107438

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. PubMed ID: 12588794

An unappreciated role for RNA surveillance. PubMed ID: 14759258

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. PubMed ID: 16301216

An isoform of GTPase regulator DOCK4 localizes to the stereocilia in the inner ear and binds to harmonin (USH1C). PubMed ID: 16464467

Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. PubMed ID: 21709241

Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion. PubMed ID: 24725409

ANKS4B is essential for intermicrovillar adhesion complex formation. PubMed ID: 26812018

Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23. PubMed ID: 19297620

The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. PubMed ID: 20142502

Mechanistic basis of organization of the Harmonin/USH1C-mediated brush border microvilli tip-link complex. PubMed ID: 26812017

The sequence of the human genome. PubMed ID: 11181995

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. PubMed ID: 26871637