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Protein

Harmonin

Gene

Ush1c

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 development and maintenance of cochlear hair cell bundles (PubMed:19447093). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018).3 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processDifferentiation, 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)Imported
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:1919338 Ush1c

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Disruption phenotypei

Mice lacking Ush1c display abnormal brush border morphology along the length of the intestinal tract.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000657281 – 910HarmoninAdd BLAST910

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei219PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9ES64
PeptideAtlasiQ9ES64
PRIDEiQ9ES64

PTM databases

iPTMnetiQ9ES64
PhosphoSitePlusiQ9ES64

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.3 Publications

Gene expression databases

CleanExiMM_USH1C

Interactioni

Subunit structurei

Part of the IMAC/intermicrovillar adhesion complex/intermicrovillar tip-link complex composed of ANKS4B, MYO7B, USH1C, CDHR2 and CDHR5 (By similarity). Part of a complex composed of USH1C, USH1G and MYO7A (By similarity). Interacts with F-actin (PubMed:19447093). Interacts with USH2A (PubMed:16301217). Interacts with SLC4A7 (PubMed:16301216). Interacts (via PDZ1 domain) with the C-terminus of USHBP1 (By similarity). Interacts (via N-terminus and PDZ 2 domain) with CDH23 (PubMed:19447093). Interacts with USH1G (By similarity). Interacts with MYO7B (PubMed:26812017). Interacts with CDHR2 and CDHR5; may mediate their interaction with MYO7B at the microvilli tip (By similarity) (PubMed:26812017). Interacts (via PDZ 1 domain) with ANKS4B (PubMed:12588794, PubMed:15461667).By similarity6 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi215143, 5 interactors
CORUMiQ9ES64
IntActiQ9ES64, 8 interactors
MINTiQ9ES64
STRINGi10090.ENSMUSP00000009667

Structurei

Secondary structure

1910
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9ES64
SMRiQ9ES64
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9ES64

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini87 – 171PDZ 1PROSITE-ProRule annotationCuratedAdd BLAST85
Domaini211 – 295PDZ 2PROSITE-ProRule annotationCuratedAdd BLAST85
Domaini752 – 839PDZ 3PROSITE-ProRule annotationCuratedAdd BLAST88

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 86N-terminal domainBy similarityAdd BLAST86
Regioni194 – 833Mediates interaction with MYO7BBy similarityAdd BLAST640

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili299 – 377Sequence analysisAdd BLAST79
Coiled coili417 – 482Sequence analysisAdd BLAST66

Domaini

The PDZ 1 domain mediates interaction with ANKS4B, USHBP1, USH1G, SLC4A7.By similarity1 Publication
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

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG3528 Eukaryota
ENOG4110362 LUCA
HOGENOMiHOG000126890
HOVERGENiHBG057181
InParanoidiQ9ES64
KOiK21877
PhylomeDBiQ9ES64

Family and domain databases

InterProiView protein in InterPro
IPR030237 Harmonin
IPR001478 PDZ
IPR036034 PDZ_sf
PANTHERiPTHR23116:SF36 PTHR23116:SF36, 1 hit
PfamiView protein in Pfam
PF00595 PDZ, 3 hits
SMARTiView protein in SMART
SM00228 PDZ, 3 hits
SUPFAMiSSF50156 SSF50156, 3 hits
PROSITEiView protein in PROSITE
PS50106 PDZ, 3 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms exist.1 Publication

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 3Curated (identifier: Q9ES64-1) [UniParc]FASTAAdd to basket
Also known as: b31 Publication

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
        10         20         30         40         50
MDRKVAREFR HKVDFLIEND AEKDYLYDVL RMYHQTMDVA VLVGDLKLVI
60 70 80 90 100
NEPNRLPLFD AIRPLIPLKH QVEYDQLTPR RSRKLKEVRL DRLHPEGLGL
110 120 130 140 150
SVRGGLEFGC GLFISHLIKG GQADSVGLQV GDEIVRINGY SISSCTHEEV
160 170 180 190 200
INLIRTKKTV SIKVRHIGLI PVKSSPEESL KWQYVDQFVS ESGGVRGGLG
210 220 230 240 250
SPGNRTTKEK KVFISLVGSR GLGCSISSGP IQKPGIFVSH VKPGSLSAEV
260 270 280 290 300
GLETGDQIVE VNGIDFTNLD HKEAVNVLKS SRSLTISIVA GAGRELFMTD
310 320 330 340 350
RERLEEARQR ELQRQELLMQ KRLAMESNKI LQEQQEMERQ RRKEIAQKAA
360 370 380 390 400
EENERYRKEM EQISEEEEKF KKQWEEDWGS KEQLILPKTI TAEVHPVPLR
410 420 430 440 450
KPKSFGWFYR YDGKFPTIRK KAKEKKKAKY DSLQDLRKNK KELEFEQKLY
460 470 480 490 500
KEKEEMLEKE KQLKINRLAQ EVSETEREDL EESEKTQYWV ERLCQTRLEQ
510 520 530 540 550
ISSAENEIPE MTTGPPPPPP SVSPLAPPLR RFAGGIHLHT TDLDDIPLDM
560 570 580 590 600
FYYPPKTPSA LPVMPHPPSV NSPSKVPAPP VLPSSGHVSS SSSPWVQRTP
610 620 630 640 650
PPIPIPPPPS IPTQDLTPTR PLPSALEEAL GNHPFRTGDP GHPADDWEAN
660 670 680 690 700
THSGKPSSSP TTERSFPPAP KTFCPSPQPP RGPGVSTISK PVMVHQEHNF
710 720 730 740 750
VYRPAVKSEV LPQEMLKRMV VYQTAFRQDF RKYEEGFDPY SMFSPEQIAG
760 770 780 790 800
KDVRLLRIKK EGSLDLALEG GVDSPVGKVV VSAVYEGGAA ERHGGVVKGD
810 820 830 840 850
EIMAINGKIV TDYTLAEAEA ALQKAWNQGG DWIDLVVAVC PPKEYDDELS
860 870 880 890 900
SLPSSAAESP QLARKQLEAY EPVCRHGFFL QLEPTNLLLK SRERNQTDPS
910
WRPASSAPSP
Length:910
Mass (Da):102,285
Last modified:March 1, 2001 - v1
Checksum:i427B97953BA5D941
GO
Isoform 2Curated (identifier: Q9ES64-2) [UniParc]FASTAAdd to basket
Also known as: b2Curated

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 1Curated (identifier: Q9ES64-3) [UniParc]FASTAAdd to basket
Also known as: a11 Publication

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

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9QMN1E9QMN1_MOUSE
Harmonin
Ush1c
910Annotation score:
E9PYX1E9PYX1_MOUSE
Harmonin
Ush1c
891Annotation score:
H3BIZ2H3BIZ2_MOUSE
Harmonin
Ush1c
517Annotation score:
D6RIM8D6RIM8_MOUSE
Harmonin
Ush1c
859Annotation score:
H3BLC4H3BLC4_MOUSE
Harmonin
Ush1c
529Annotation score:
A0A0R4J0Z8A0A0R4J0Z8_MOUSE
Harmonin
Ush1c
548Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti375E → K in AAH10819 (PubMed:15489334).Curated1
Sequence conflicti740Y → H in BAB25568 (PubMed:16141072).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_050530404 – 423SFGWF…RKKAK → YDQGVEPADHLDGSTEEQRQ in isoform 1. 3 PublicationsAdd BLAST20
Alternative sequenceiVSP_050531424 – 727Missing in isoform 1. 3 PublicationsAdd BLAST304
Alternative sequenceiVSP_050532850 – 859SSLPSSAAES → RKPPAGPKAA in isoform 2. 1 Publication10
Alternative sequenceiVSP_050533850 – 852SSL → TFF in isoform 1. 3 Publications3
Alternative sequenceiVSP_050534860 – 910Missing in isoform 2. 1 PublicationAdd BLAST51

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS85309.1 [Q9ES64-2]
RefSeqiNP_001157205.1, NM_001163733.1
NP_076138.2, NM_023649.2
NP_710143.2, NM_153677.2
UniGeneiMm.119709

Genome annotation databases

GeneIDi72088
KEGGimmu:72088
UCSCiuc009gyh.2 mouse [Q9ES64-3]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS85309.1 [Q9ES64-2]
RefSeqiNP_001157205.1, NM_001163733.1
NP_076138.2, NM_023649.2
NP_710143.2, NM_153677.2
UniGeneiMm.119709

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1V6BNMR-A742-849[»]
ProteinModelPortaliQ9ES64
SMRiQ9ES64
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi215143, 5 interactors
CORUMiQ9ES64
IntActiQ9ES64, 8 interactors
MINTiQ9ES64
STRINGi10090.ENSMUSP00000009667

PTM databases

iPTMnetiQ9ES64
PhosphoSitePlusiQ9ES64

Proteomic databases

PaxDbiQ9ES64
PeptideAtlasiQ9ES64
PRIDEiQ9ES64

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi72088
KEGGimmu:72088
UCSCiuc009gyh.2 mouse [Q9ES64-3]

Organism-specific databases

CTDi10083
MGIiMGI:1919338 Ush1c

Phylogenomic databases

eggNOGiKOG3528 Eukaryota
ENOG4110362 LUCA
HOGENOMiHOG000126890
HOVERGENiHBG057181
InParanoidiQ9ES64
KOiK21877
PhylomeDBiQ9ES64

Miscellaneous databases

EvolutionaryTraceiQ9ES64
PROiPR:Q9ES64
SOURCEiSearch...

Gene expression databases

CleanExiMM_USH1C

Family and domain databases

InterProiView protein in InterPro
IPR030237 Harmonin
IPR001478 PDZ
IPR036034 PDZ_sf
PANTHERiPTHR23116:SF36 PTHR23116:SF36, 1 hit
PfamiView protein in Pfam
PF00595 PDZ, 3 hits
SMARTiView protein in SMART
SM00228 PDZ, 3 hits
SUPFAMiSSF50156 SSF50156, 3 hits
PROSITEiView protein in PROSITE
PS50106 PDZ, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiUSH1C_MOUSE
AccessioniPrimary (citable) accession number: Q9ES64
Secondary accession number(s): Q91XD1, Q9CVG7, Q9ES65
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2003
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 143 of the entry and version 1 of the sequence. See 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
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Main funding by: National Institutes of Health

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