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Q9ES64

- USH1C_MOUSE

UniProt

Q9ES64 - USH1C_MOUSE

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Protein
Harmonin
Gene
Ush1c
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.1 Publication

GO - Molecular functioni

  1. myosin tail binding Source: MGI
  2. protein binding Source: IntAct
  3. spectrin binding Source: MGI
Complete GO annotation...

GO - Biological processi

  1. actin filament bundle assembly Source: MGI
  2. auditory receptor cell differentiation Source: MGI
  3. inner ear morphogenesis Source: MGI
  4. neuromuscular process controlling balance Source: MGI
  5. parallel actin filament bundle assembly Source: MGI
  6. sensory perception of sound Source: MGI
Complete GO annotation...

Keywords - Biological processi

Hearing

Names & Taxonomyi

Protein namesi
Recommended name:
Harmonin
Alternative name(s):
PDZ domain-containing protein
Usher syndrome type-1C protein homolog
Gene namesi
Name:Ush1c
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 7

Organism-specific databases

MGIiMGI:1919338. Ush1c.

Subcellular locationi

Cytoplasmcytosol By similarity. Cytoplasmcytoskeleton
Note: Detected at the tip of cochlear hair cell stereocilia. Colocalizes with F-actin.1 Publication

GO - Cellular componenti

  1. cytoskeleton Source: UniProtKB-SubCell
  2. cytosol Source: UniProtKB-SubCell
  3. photoreceptor inner segment Source: MGI
  4. photoreceptor outer segment Source: MGI
  5. plasma membrane Source: MGI
  6. stereocilium Source: MGI
  7. synapse Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 910910Harmonin
PRO_0000065728Add
BLAST

Proteomic databases

MaxQBiQ9ES64.
PaxDbiQ9ES64.
PRIDEiQ9ES64.

PTM databases

PhosphoSiteiQ9ES64.

Expressioni

Tissue specificityi

Detected in stereocilia of cochlear hair cells (at protein level). Isoform 1 is expressed in the eye, cochlea, vestibule, heart, kidney, small intestine and testis; it is barely visible in skeletal muscle, liver, and lung and is absent from the brain. Isoforms 2 and 3 are expressed in the cochlea and vestibule.2 Publications

Gene expression databases

ArrayExpressiQ9ES64.
BgeeiQ9ES64.
CleanExiMM_USH1C.
GenevestigatoriQ9ES64.

Interactioni

Subunit structurei

Interacts with HARP. Interacts with USH1G/SANS, USH2A and SLC4A7. Part of a complex composed of USH1C, USH1G and MYO7A. Interacts (via the first PDZ domain) with the C-terminus of USHBP1. Interacts (via N-terminus and second PDZ domain) with CDH23. Interacts with F-actin.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Cdh23Q99PF42EBI-7418919,EBI-7419021
Pcdh15Q99PJ13EBI-7418968,EBI-6556746
Ush1gQ80T113EBI-7418919,EBI-7418889

Protein-protein interaction databases

BioGridi215143. 5 interactions.
IntActiQ9ES64. 5 interactions.
MINTiMINT-1895746.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi745 – 7484
Beta strandi753 – 7608
Beta strandi767 – 7715
Beta strandi774 – 7763
Beta strandi778 – 7836
Helixi789 – 7935
Beta strandi801 – 8077
Helixi815 – 82814
Beta strandi831 – 8388

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1V6BNMR-A742-849[»]
ProteinModelPortaliQ9ES64.
SMRiQ9ES64. Positions 1-299, 741-850.

Miscellaneous databases

EvolutionaryTraceiQ9ES64.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini87 – 17185PDZ 1
Add
BLAST
Domaini211 – 29585PDZ 2
Add
BLAST
Domaini752 – 83988PDZ 3
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 8686N-terminal domain
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili299 – 37779 Reviewed prediction
Add
BLAST
Coiled coili417 – 48266 Reviewed prediction
Add
BLAST

Domaini

The PDZ domain 1 mediates interactions with USH1G/SANS and SLC4A7.
The N-terminal region constitutes an independently folded domain that has structural similarity with the CCM2 C-terminus, despite very low sequence similarity By similarity.

Sequence similaritiesi

Contains 3 PDZ (DHR) domains.

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiNOG255885.
GeneTreeiENSGT00530000063178.
HOGENOMiHOG000126890.
HOVERGENiHBG057181.
InParanoidiQ9ES64.
OrthoDBiEOG75MVW2.
PhylomeDBiQ9ES64.

Family and domain databases

Gene3Di2.30.42.10. 3 hits.
InterProiIPR001478. PDZ.
[Graphical view]
PfamiPF00595. PDZ. 3 hits.
[Graphical view]
SMARTiSM00228. PDZ. 3 hits.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 3 hits.
PROSITEiPS50106. PDZ. 3 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Note: Additional isoforms exist.

Isoform 3 (identifier: Q9ES64-1) [UniParc]FASTAAdd to Basket

Also known as: b3

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MDRKVAREFR HKVDFLIEND AEKDYLYDVL RMYHQTMDVA VLVGDLKLVI    50
NEPNRLPLFD AIRPLIPLKH QVEYDQLTPR RSRKLKEVRL DRLHPEGLGL 100
SVRGGLEFGC GLFISHLIKG GQADSVGLQV GDEIVRINGY SISSCTHEEV 150
INLIRTKKTV SIKVRHIGLI PVKSSPEESL KWQYVDQFVS ESGGVRGGLG 200
SPGNRTTKEK KVFISLVGSR GLGCSISSGP IQKPGIFVSH VKPGSLSAEV 250
GLETGDQIVE VNGIDFTNLD HKEAVNVLKS SRSLTISIVA GAGRELFMTD 300
RERLEEARQR ELQRQELLMQ KRLAMESNKI LQEQQEMERQ RRKEIAQKAA 350
EENERYRKEM EQISEEEEKF KKQWEEDWGS KEQLILPKTI TAEVHPVPLR 400
KPKSFGWFYR YDGKFPTIRK KAKEKKKAKY DSLQDLRKNK KELEFEQKLY 450
KEKEEMLEKE KQLKINRLAQ EVSETEREDL EESEKTQYWV ERLCQTRLEQ 500
ISSAENEIPE MTTGPPPPPP SVSPLAPPLR RFAGGIHLHT TDLDDIPLDM 550
FYYPPKTPSA LPVMPHPPSV NSPSKVPAPP VLPSSGHVSS SSSPWVQRTP 600
PPIPIPPPPS IPTQDLTPTR PLPSALEEAL GNHPFRTGDP GHPADDWEAN 650
THSGKPSSSP TTERSFPPAP KTFCPSPQPP RGPGVSTISK PVMVHQEHNF 700
VYRPAVKSEV LPQEMLKRMV VYQTAFRQDF RKYEEGFDPY SMFSPEQIAG 750
KDVRLLRIKK EGSLDLALEG GVDSPVGKVV VSAVYEGGAA ERHGGVVKGD 800
EIMAINGKIV TDYTLAEAEA ALQKAWNQGG DWIDLVVAVC PPKEYDDELS 850
SLPSSAAESP QLARKQLEAY EPVCRHGFFL QLEPTNLLLK SRERNQTDPS 900
WRPASSAPSP 910
Length:910
Mass (Da):102,285
Last modified:March 1, 2001 - v1
Checksum:i427B97953BA5D941
GO
Isoform 2 (identifier: Q9ES64-2) [UniParc]FASTAAdd to Basket

Also known as: b2

The sequence of this isoform differs from the canonical sequence as follows:
     850-859: SSLPSSAAES → RKPPAGPKAA
     860-910: Missing.

Show »
Length:859
Mass (Da):96,498
Checksum:i80041ACF7FE5F3D2
GO
Isoform 1 (identifier: Q9ES64-3) [UniParc]FASTAAdd to Basket

Also known as: a1

The sequence of this isoform differs from the canonical sequence as follows:
     404-423: SFGWFYRYDGKFPTIRKKAK → YDQGVEPADHLDGSTEEQRQ
     424-727: Missing.
     850-852: SSL → TFF

Show »
Length:606
Mass (Da):68,185
Checksum:i59A90F640A915A36
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei404 – 42320SFGWF…RKKAK → YDQGVEPADHLDGSTEEQRQ in isoform 1. 1 Publication
VSP_050530Add
BLAST
Alternative sequencei424 – 727304Missing in isoform 1. 1 Publication
VSP_050531Add
BLAST
Alternative sequencei850 – 85910SSLPSSAAES → RKPPAGPKAA in isoform 2.
VSP_050532
Alternative sequencei850 – 8523SSL → TFF in isoform 1. 1 Publication
VSP_050533
Alternative sequencei860 – 91051Missing in isoform 2.
VSP_050534Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti375 – 3751E → K in AAH10819. 1 Publication
Sequence conflicti740 – 7401Y → H in BAB25568. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF228925 mRNA. Translation: AAG12458.1.
AF228924 mRNA. Translation: AAG12457.1.
AY103465 mRNA. Translation: AAM44072.1.
BC010819 mRNA. Translation: AAH10819.1.
AK008274 mRNA. Translation: BAB25568.2.
CCDSiCCDS21276.1. [Q9ES64-1]
RefSeqiNP_001157205.1. NM_001163733.1.
NP_076138.2. NM_023649.2.
NP_710143.2. NM_153677.2.
UniGeneiMm.119709.

Genome annotation databases

EnsembliENSMUST00000078680; ENSMUSP00000077747; ENSMUSG00000030838.
GeneIDi72088.
KEGGimmu:72088.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF228925 mRNA. Translation: AAG12458.1 .
AF228924 mRNA. Translation: AAG12457.1 .
AY103465 mRNA. Translation: AAM44072.1 .
BC010819 mRNA. Translation: AAH10819.1 .
AK008274 mRNA. Translation: BAB25568.2 .
CCDSi CCDS21276.1. [Q9ES64-1 ]
RefSeqi NP_001157205.1. NM_001163733.1.
NP_076138.2. NM_023649.2.
NP_710143.2. NM_153677.2.
UniGenei Mm.119709.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1V6B NMR - A 742-849 [» ]
ProteinModelPortali Q9ES64.
SMRi Q9ES64. Positions 1-299, 741-850.
ModBasei Search...

Protein-protein interaction databases

BioGridi 215143. 5 interactions.
IntActi Q9ES64. 5 interactions.
MINTi MINT-1895746.

PTM databases

PhosphoSitei Q9ES64.

Proteomic databases

MaxQBi Q9ES64.
PaxDbi Q9ES64.
PRIDEi Q9ES64.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000078680 ; ENSMUSP00000077747 ; ENSMUSG00000030838 .
GeneIDi 72088.
KEGGi mmu:72088.

Organism-specific databases

CTDi 10083.
MGIi MGI:1919338. Ush1c.

Phylogenomic databases

eggNOGi NOG255885.
GeneTreei ENSGT00530000063178.
HOGENOMi HOG000126890.
HOVERGENi HBG057181.
InParanoidi Q9ES64.
OrthoDBi EOG75MVW2.
PhylomeDBi Q9ES64.

Miscellaneous databases

EvolutionaryTracei Q9ES64.
NextBioi 335406.
PROi Q9ES64.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9ES64.
Bgeei Q9ES64.
CleanExi MM_USH1C.
Genevestigatori Q9ES64.

Family and domain databases

Gene3Di 2.30.42.10. 3 hits.
InterProi IPR001478. PDZ.
[Graphical view ]
Pfami PF00595. PDZ. 3 hits.
[Graphical view ]
SMARTi SM00228. PDZ. 3 hits.
[Graphical view ]
SUPFAMi SSF50156. SSF50156. 3 hits.
PROSITEi PS50106. PDZ. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C."
    Verpy E., Leibovici M., Zwaenepoel I., Liu X.-Z., Gal A., Salem N., Mansour A., Blanchard S., Kobayashi I., Keats B.J.B., Slim R., Petit C.
    Nat. Genet. 26:51-55(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
    Tissue: Inner ear.
  2. Verpy E., Leibovici M., Zwaenepoel I., Blanchard S., Petit C.
    Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Colon.
  4. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 740-852 (ISOFORM 1).
    Strain: C57BL/6J.
    Tissue: Small intestine.
  5. "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin."
    Weil D., El-Amraoui A., Masmoudi S., Mustapha M., Kikkawa Y., Laine S., Delmaghani S., Adato A., Nadifi S., Zina Z.B., Hamel C., Gal A., Ayadi H., Yonekawa H., Petit C.
    Hum. Mol. Genet. 12:463-471(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HARP.
  6. "Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues."
    Johnston A.M., Naselli G., Niwa H., Brodnicki T., Harrison L.C., Gonez L.J.
    Genes Cells 9:967-982(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HARP.
  7. "Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2."
    Reiners J., van Wijk E., Maerker T., Zimmermann U., Juergens K., te Brinke H., Overlack N., Roepman R., Knipper M., Kremer H., Wolfrum U.
    Hum. Mol. Genet. 14:3933-3943(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SLC4A7.
  8. "Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells."
    Adato A., Lefevre G., Delprat B., Michel V., Michalski N., Chardenoux S., Weil D., El-Amraoui A., Petit C.
    Hum. Mol. Genet. 14:3921-3932(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH USH2A.
  9. Cited for: FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH CDH23 AND WITH F-ACTIN, SUBCELLULAR LOCATION.
  10. "Solution structure of the third PDZ domain of mouse harmonin."
    RIKEN structural genomics initiative (RSGI)
    Submitted (MAY-2004) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 742-849.

Entry informationi

Entry nameiUSH1C_MOUSE
AccessioniPrimary (citable) accession number: Q9ES64
Secondary accession number(s): Q91XD1, Q9CVG7, Q9ES65
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2003
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 114 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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