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Q9Y6N9

- USH1C_HUMAN

UniProt

Q9Y6N9 - USH1C_HUMAN

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Protein

Harmonin

Gene

USH1C

Organism
Homo sapiens (Human)
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 (By similarity).By similarity

GO - Molecular functioni

  1. spectrin binding Source: MGI

GO - Biological processi

  1. auditory receptor cell differentiation Source: Ensembl
  2. equilibrioception Source: HGNC
  3. G2/M transition of mitotic cell cycle Source: HGNC
  4. inner ear morphogenesis Source: Ensembl
  5. parallel actin filament bundle assembly Source: Ensembl
  6. photoreceptor cell maintenance Source: HGNC
  7. sensory perception of light stimulus Source: HGNC
  8. sensory perception of sound Source: HGNC
Complete GO annotation...

Keywords - Biological processi

Hearing

Names & Taxonomyi

Protein namesi
Recommended name:
Harmonin
Alternative name(s):
Antigen NY-CO-38/NY-CO-37
Autoimmune enteropathy-related antigen AIE-75
Protein PDZ-73
Renal carcinoma antigen NY-REN-3
Usher syndrome type-1C protein
Gene namesi
Name:USH1C
Synonyms:AIE75
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:12597. USH1C.

Subcellular locationi

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

GO - Cellular componenti

  1. apical part of cell Source: HGNC
  2. cytoplasm Source: HGNC
  3. cytoskeleton Source: UniProtKB-KW
  4. photoreceptor inner segment Source: Ensembl
  5. photoreceptor outer segment Source: Ensembl
  6. plasma membrane Source: Ensembl
  7. stereocilium Source: HGNC
  8. synapse Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Usher syndrome 1C (USH1C) [MIM:276904]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Deafness, autosomal recessive, 18A (DFNB18A) [MIM:602092]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi103 – 1031R → H: Strongly reduced affinity for USH1G. 1 Publication

Keywords - Diseasei

Deafness, Non-syndromic deafness, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

MIMi276900. phenotype.
276904. phenotype.
602092. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBiPA37226.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 552552HarmoninPRO_0000065727Add
BLAST

Proteomic databases

MaxQBiQ9Y6N9.
PaxDbiQ9Y6N9.
PRIDEiQ9Y6N9.

PTM databases

PhosphoSiteiQ9Y6N9.

Expressioni

Tissue specificityi

Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.1 Publication

Gene expression databases

BgeeiQ9Y6N9.
CleanExiHS_USH1C.
ExpressionAtlasiQ9Y6N9. baseline and differential.
GenevestigatoriQ9Y6N9.

Organism-specific databases

HPAiCAB013690.
HPA027398.
HPA027492.
HPA028033.

Interactioni

Subunit structurei

Interacts with F-actin. Interacts with HARP (By similarity). Interacts with USH1G/SANS, USH2A and SLC4A7. Interacts (via the first PDZ domain) with the C-terminus of USHBP1. Interacts (via N-terminus and second PDZ domain) with CDH23. Part of a complex composed of USH1C, USH1G and MYO7A.By similarity6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CDHR2Q9BYE92EBI-9541226,EBI-493793
CDHR5Q9HBB82EBI-9541226,EBI-9540696

Protein-protein interaction databases

BioGridi115392. 8 interactions.
DIPiDIP-41473N.
IntActiQ9Y6N9. 5 interactions.
MINTiMINT-196953.
STRINGi9606.ENSP00000005226.

Structurei

Secondary structure

1
552
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi2 – 1615Combined sources
Helixi20 – 3617Combined sources
Helixi39 – 468Combined sources
Turni47 – 493Combined sources
Helixi53 – 564Combined sources
Helixi57 – 626Combined sources
Helixi63 – 653Combined sources
Helixi68 – 703Combined sources
Helixi71 – 777Combined sources
Beta strandi86 – 916Combined sources
Beta strandi100 – 1056Combined sources
Helixi106 – 1083Combined sources
Beta strandi110 – 1178Combined sources
Helixi122 – 1254Combined sources
Beta strandi132 – 1376Combined sources
Helixi147 – 1548Combined sources
Beta strandi156 – 16611Combined sources
Beta strandi169 – 1724Combined sources
Beta strandi181 – 1844Combined sources
Helixi185 – 1917Combined sources
Beta strandi208 – 2147Combined sources
Beta strandi217 – 2204Combined sources
Beta strandi224 – 2285Combined sources
Beta strandi231 – 2333Combined sources
Beta strandi235 – 2417Combined sources
Turni246 – 2516Combined sources
Beta strandi257 – 2615Combined sources
Helixi273 – 2808Combined sources
Beta strandi282 – 2887Combined sources
Turni292 – 2943Combined sources
Helixi295 – 2984Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1X5NNMR-A201-301[»]
2KBQNMR-A1-80[»]
2KBRNMR-A1-80[»]
2KBSNMR-A208-299[»]
2LSRNMR-A1-80[»]
3K1RX-ray2.30A1-192[»]
ProteinModelPortaliQ9Y6N9.
SMRiQ9Y6N9. Positions 1-301, 441-552.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y6N9.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini87 – 16983PDZ 1PROSITE-ProRule annotationAdd
BLAST
Domaini211 – 29383PDZ 2PROSITE-ProRule annotationAdd
BLAST
Domaini452 – 53786PDZ 3PROSITE-ProRule annotationAdd
BLAST

Region

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

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili310 – 37768Sequence AnalysisAdd
BLAST

Domaini

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

Sequence similaritiesi

Contains 3 PDZ (DHR) domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiNOG255885.
GeneTreeiENSGT00530000063178.
HOGENOMiHOG000126890.
HOVERGENiHBG057181.
InParanoidiQ9Y6N9.
OMAiEDWEAKN.
OrthoDBiEOG75MVW2.
PhylomeDBiQ9Y6N9.
TreeFamiTF325033.

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 (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y6N9-1) [UniParc]FASTAAdd to Basket

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
NEPSRLPLFD AIRPLIPLKH QVEYDQLTPR RSRKLKEVRL DRLHPEGLGL
110 120 130 140 150
SVRGGLEFGC GLFISHLIKG GQADSVGLQV GDEIVRINGY SISSCTHEEV
160 170 180 190 200
INLIRTKKTV SIKVRHIGLI PVKSSPDEPL TWQYVDQFVS ESGGVRGSLG
210 220 230 240 250
SPGNRENKEK KVFISLVGSR GLGCSISSGP IQKPGIFISH VKPGSLSAEV
260 270 280 290 300
GLEIGDQIVE VNGVDFSNLD HKEAVNVLKS SRSLTISIVA AAGRELFMTD
310 320 330 340 350
RERLAEARQR ELQRQELLMQ KRLAMESNKI LQEQQEMERQ RRKEIAQKAA
360 370 380 390 400
EENERYRKEM EQIVEEEEKF KKQWEEDWGS KEQLLLPKTI TAEVHPVPLR
410 420 430 440 450
KPKYDQGVEP ELEPADDLDG GTEEQGEQDF RKYEEGFDPY SMFTPEQIMG
460 470 480 490 500
KDVRLLRIKK EGSLDLALEG GVDSPIGKVV VSAVYERGAA ERHGGIVKGD
510 520 530 540 550
EIMAINGKIV TDYTLAEAEA ALQKAWNQGG DWIDLVVAVC PPKEYDDELT

FF
Length:552
Mass (Da):62,211
Last modified:November 13, 2007 - v3
Checksum:i7E75CEE873C57F41
GO
Isoform 2 (identifier: Q9Y6N9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: Missing.

Show »
Length:521
Mass (Da):58,343
Checksum:iA303D7D48D91A847
GO
Isoform 3 (identifier: Q9Y6N9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     404-552: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:403
Mass (Da):45,812
Checksum:iAB350B62ED2C44FD
GO
Isoform 4 (identifier: Q9Y6N9-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     274-292: Missing.

Note: No experimental confirmation available.

Show »
Length:533
Mass (Da):60,329
Checksum:iA9D7E121B11E2FBD
GO
Isoform 5 (identifier: Q9Y6N9-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     404-427: YDQGVEPELEPADDLDGGTEEQGE → SFGWFYRYDG...RMVVYQTAFR
     550-552: TFF → ASLPSSVAESPQPVRKLLEDRAAVHRHGFLLQLEPTDLLLKSKRGNQIHR

Note: No experimental confirmation available.

Show »
Length:899
Mass (Da):101,344
Checksum:i6DA49F7674BFA920
GO

Sequence cautioni

The sequence AAC18049.1 differs from that shown. Reason: Frameshift at position 552. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti103 – 1031R → S in BAA81739. (PubMed:10500064)Curated
Sequence conflicti280 – 2801S → N in AAC18049. (PubMed:9610721)Curated
Sequence conflicti280 – 2801S → N in AAC18048. (PubMed:9610721)Curated
Sequence conflicti305 – 3051A → T in BAA81739. (PubMed:10500064)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti519 – 5191E → D.3 Publications
Corresponds to variant rs1064074 [ dbSNP | Ensembl ].
VAR_012320

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3131Missing in isoform 2. 1 PublicationVSP_003789Add
BLAST
Alternative sequencei274 – 29219Missing in isoform 4. 1 PublicationVSP_007422Add
BLAST
Alternative sequencei404 – 552149Missing in isoform 3. 1 PublicationVSP_003790Add
BLAST
Alternative sequencei404 – 42724YDQGV…EEQGE → SFGWFYRYDGKFPTIRKKGK DKKKAKYGSLQDLRKNKKEL EFEQKLYKEKEEMLEKEKQL KINRLAQEVSETEREDLEES EKIQYWVERLCQTRLEQISS ADNEISEMTTGPPPPPPSVS PLAPPLRRFAGGLHLHTTDL DDIPLDMFYYPPKTPSALPV MPHPPPSNPPHKVPAPPVLP LSGHVSASSSPWVQRTPPPI PIPPPPSVPTQDLTPTRPLP SALEEALSNHPFRTGDTGNP VEDWEAKNHSGKPTNSPVPE QSFPPTPKTFCPSPQPPRGP GVSTISKPVMVHQEPNFIYR PAVKSEVLPQEMLKRMVVYQ TAFR in isoform 5. CuratedVSP_043520Add
BLAST
Alternative sequencei550 – 5523TFF → ASLPSSVAESPQPVRKLLED RAAVHRHGFLLQLEPTDLLL KSKRGNQIHR in isoform 5. CuratedVSP_043521

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF039700 mRNA. Translation: AAC18049.1. Frameshift.
AF039699 mRNA. Translation: AAC18048.1.
AB006955 mRNA. Translation: BAA81739.1.
AB018687 mRNA. Translation: BAA81740.1.
AK290788 mRNA. Translation: BAF83477.1.
AC124799 Genomic DNA. No translation available.
BC016057 mRNA. Translation: AAH16057.1.
CH471064 Genomic DNA. Translation: EAW68432.1.
BK000147 mRNA. Translation: DAA00086.1.
CCDSiCCDS31438.1. [Q9Y6N9-1]
CCDS73265.1. [Q9Y6N9-4]
CCDS7825.1. [Q9Y6N9-5]
RefSeqiNP_001284693.1. NM_001297764.1. [Q9Y6N9-4]
NP_005700.2. NM_005709.3. [Q9Y6N9-1]
NP_710142.1. NM_153676.3. [Q9Y6N9-5]
UniGeneiHs.502072.

Genome annotation databases

EnsembliENST00000005226; ENSP00000005226; ENSG00000006611. [Q9Y6N9-5]
ENST00000318024; ENSP00000317018; ENSG00000006611. [Q9Y6N9-1]
ENST00000526313; ENSP00000432236; ENSG00000006611. [Q9Y6N9-3]
ENST00000527020; ENSP00000436934; ENSG00000006611. [Q9Y6N9-4]
ENST00000527720; ENSP00000432944; ENSG00000006611. [Q9Y6N9-2]
GeneIDi10083.
KEGGihsa:10083.
UCSCiuc001mnd.3. human. [Q9Y6N9-1]
uc001mne.3. human. [Q9Y6N9-5]
uc009yhb.3. human. [Q9Y6N9-4]

Polymorphism databases

DMDMi160113087.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the USH1C gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF039700 mRNA. Translation: AAC18049.1 . Frameshift.
AF039699 mRNA. Translation: AAC18048.1 .
AB006955 mRNA. Translation: BAA81739.1 .
AB018687 mRNA. Translation: BAA81740.1 .
AK290788 mRNA. Translation: BAF83477.1 .
AC124799 Genomic DNA. No translation available.
BC016057 mRNA. Translation: AAH16057.1 .
CH471064 Genomic DNA. Translation: EAW68432.1 .
BK000147 mRNA. Translation: DAA00086.1 .
CCDSi CCDS31438.1. [Q9Y6N9-1 ]
CCDS73265.1. [Q9Y6N9-4 ]
CCDS7825.1. [Q9Y6N9-5 ]
RefSeqi NP_001284693.1. NM_001297764.1. [Q9Y6N9-4 ]
NP_005700.2. NM_005709.3. [Q9Y6N9-1 ]
NP_710142.1. NM_153676.3. [Q9Y6N9-5 ]
UniGenei Hs.502072.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1X5N NMR - A 201-301 [» ]
2KBQ NMR - A 1-80 [» ]
2KBR NMR - A 1-80 [» ]
2KBS NMR - A 208-299 [» ]
2LSR NMR - A 1-80 [» ]
3K1R X-ray 2.30 A 1-192 [» ]
ProteinModelPortali Q9Y6N9.
SMRi Q9Y6N9. Positions 1-301, 441-552.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115392. 8 interactions.
DIPi DIP-41473N.
IntActi Q9Y6N9. 5 interactions.
MINTi MINT-196953.
STRINGi 9606.ENSP00000005226.

PTM databases

PhosphoSitei Q9Y6N9.

Polymorphism databases

DMDMi 160113087.

Proteomic databases

MaxQBi Q9Y6N9.
PaxDbi Q9Y6N9.
PRIDEi Q9Y6N9.

Protocols and materials databases

DNASUi 10083.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000005226 ; ENSP00000005226 ; ENSG00000006611 . [Q9Y6N9-5 ]
ENST00000318024 ; ENSP00000317018 ; ENSG00000006611 . [Q9Y6N9-1 ]
ENST00000526313 ; ENSP00000432236 ; ENSG00000006611 . [Q9Y6N9-3 ]
ENST00000527020 ; ENSP00000436934 ; ENSG00000006611 . [Q9Y6N9-4 ]
ENST00000527720 ; ENSP00000432944 ; ENSG00000006611 . [Q9Y6N9-2 ]
GeneIDi 10083.
KEGGi hsa:10083.
UCSCi uc001mnd.3. human. [Q9Y6N9-1 ]
uc001mne.3. human. [Q9Y6N9-5 ]
uc009yhb.3. human. [Q9Y6N9-4 ]

Organism-specific databases

CTDi 10083.
GeneCardsi GC11M017515.
GeneReviewsi USH1C.
H-InvDB HIX0009478.
HGNCi HGNC:12597. USH1C.
HPAi CAB013690.
HPA027398.
HPA027492.
HPA028033.
MIMi 276900. phenotype.
276904. phenotype.
602092. phenotype.
605242. gene.
neXtProti NX_Q9Y6N9.
Orphaneti 90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBi PA37226.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG255885.
GeneTreei ENSGT00530000063178.
HOGENOMi HOG000126890.
HOVERGENi HBG057181.
InParanoidi Q9Y6N9.
OMAi EDWEAKN.
OrthoDBi EOG75MVW2.
PhylomeDBi Q9Y6N9.
TreeFami TF325033.

Miscellaneous databases

ChiTaRSi USH1C. human.
EvolutionaryTracei Q9Y6N9.
GeneWikii USH1C.
GenomeRNAii 10083.
NextBioi 38119.
PROi Q9Y6N9.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y6N9.
CleanExi HS_USH1C.
ExpressionAtlasi Q9Y6N9. baseline and differential.
Genevestigatori Q9Y6N9.

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. "Characterization of human colon cancer antigens recognized by autologous antibodies."
    Scanlan M.J., Chen Y.-T., Williamson B., Gure A.O., Stockert E., Gordan J.D., Tuereci O., Sahin U., Pfreundschuh M., Old L.J.
    Int. J. Cancer 76:652-658(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), VARIANT ASP-519.
    Tissue: Colon cancer.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    Tissue: Duodenum.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASP-519.
    Tissue: Kidney.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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 4), VARIANT ASP-519.
    Tissue: Colon.
  7. Cited for: IDENTIFICATION AS A RENAL CANCER ANTIGEN.
    Tissue: Renal cell carcinoma.
  8. "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: INVOLVEMENT IN USH1C, ALTERNATIVE SPLICING (ISOFORM 5).
  9. "Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain protein AIE-75."
    Ishikawa S., Kobayashi I., Hamada J., Tada M., Hirai A., Furuuchi K., Takahashi Y., Ba Y., Moriuchi T.
    Gene 267:101-110(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH USHBP1.
  10. "Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC."
    Ahmed Z.M., Smith T.N., Riazuddin S., Makishima T., Ghosh M., Bokhari S., Menon P.S., Deshmukh D., Griffith A.J., Riazuddin S., Friedman T.B., Wilcox E.R.
    Hum. Genet. 110:527-531(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN DFNB18A.
  11. "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 USH1G/SANS, TISSUE SPECIFICITY.
  12. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
  13. "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 AND USH2A.
  14. "Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction."
    Grati M., Kachar B.
    Proc. Natl. Acad. Sci. U.S.A. 108:11476-11481(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, IDENTIFICATION IN A COMPLEX WITH MYO7A AND USH1G.
  15. "Solution structure of the second PDZ domain of harmonin protein."
    RIKEN structural genomics initiative (RSGI)
    Submitted (NOV-2005) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 197-301.
  16. "Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23."
    Pan L., Yan J., Wu L., Zhang M.
    Proc. Natl. Acad. Sci. U.S.A. 106:5575-5580(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 1-80 AND 208-299 IN COMPLEX WITH CDH23, SUBCELLULAR LOCATION, INTERACTION WITH CDH23.
  17. "The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins."
    Yan J., Pan L., Chen X., Wu L., Zhang M.
    Proc. Natl. Acad. Sci. U.S.A. 107:4040-4045(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 1-192 IN COMPLEX WITH USH1G, INTERACTION WITH USH1G, MUTAGENESIS OF ARG-103, DOMAIN, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiUSH1C_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6N9
Secondary accession number(s): A8K423
, Q7RTU8, Q96B29, Q9UM04, Q9UM17, Q9UPC3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: November 13, 2007
Last modified: November 26, 2014
This is version 136 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

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