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Q9Y6N9 (USH1C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:USH1C
Synonyms:AIE75
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length552 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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. Ref.9 Ref.11 Ref.13 Ref.14 Ref.16 Ref.17

Subcellular location

Cytoplasmcytosol. Cytoplasmcytoskeleton. Note: Colocalizes with F-actin By similarity. Detected at the tip of cochlear hair cell stereocilia. Ref.14 Ref.16 Ref.17

Tissue specificity

Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear. Ref.11

Domain

The PDZ domain 1 mediates interactions with USH1G/SANS and SLC4A7. Ref.17

The N-terminal region constitutes an independently folded domain that has structural similarity with the CCM2 C-terminus, despite very low sequence similarity. Ref.17

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Contains 3 PDZ (DHR) domains.

Sequence caution

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

Ontologies

Keywords
   Biological processHearing
   Cellular componentCytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDeafness
Non-syndromic deafness
Retinitis pigmentosa
Usher syndrome
   DomainCoiled coil
Repeat
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processG2/M transition of mitotic cell cycle

Inferred from mutant phenotype PubMed 15219944. Source: HGNC

auditory receptor cell differentiation

Inferred from electronic annotation. Source: Ensembl

equilibrioception

Inferred from mutant phenotype Ref.8. Source: HGNC

inner ear morphogenesis

Inferred from electronic annotation. Source: Ensembl

parallel actin filament bundle assembly

Inferred from electronic annotation. Source: Ensembl

photoreceptor cell maintenance

Inferred from mutant phenotype PubMed 11398101. Source: HGNC

sensory perception of light stimulus

Inferred from mutant phenotype PubMed 11398101. Source: HGNC

sensory perception of sound

Inferred from mutant phenotype PubMed 11398101. Source: HGNC

   Cellular_componentapical part of cell

Inferred from direct assay PubMed 10209257. Source: HGNC

cytoplasm

Inferred from direct assay PubMed 10209257. Source: HGNC

cytoskeleton

Inferred from electronic annotation. Source: UniProtKB-SubCell

cytosol

Inferred from electronic annotation. Source: UniProtKB-SubCell

photoreceptor inner segment

Inferred from electronic annotation. Source: Ensembl

photoreceptor outer segment

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Inferred from electronic annotation. Source: Ensembl

stereocilium

Traceable author statement PubMed 16464467. Source: HGNC

synapse

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y6N9-1)

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.
Isoform 2 (identifier: Q9Y6N9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: Missing.
Isoform 3 (identifier: Q9Y6N9-3)

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.
Isoform 4 (identifier: Q9Y6N9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     274-292: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9Y6N9-5)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 552552Harmonin
PRO_0000065727

Regions

Domain87 – 16983PDZ 1
Domain211 – 29383PDZ 2
Domain452 – 53786PDZ 3
Region1 – 8686N-terminal domain
Coiled coil310 – 37768 Potential

Natural variations

Alternative sequence1 – 3131Missing in isoform 2.
VSP_003789
Alternative sequence274 – 29219Missing in isoform 4.
VSP_007422
Alternative sequence404 – 552149Missing in isoform 3.
VSP_003790
Alternative sequence404 – 42724YDQGV…EEQGE → SFGWFYRYDGKFPTIRKKGK DKKKAKYGSLQDLRKNKKEL EFEQKLYKEKEEMLEKEKQL KINRLAQEVSETEREDLEES EKIQYWVERLCQTRLEQISS ADNEISEMTTGPPPPPPSVS PLAPPLRRFAGGLHLHTTDL DDIPLDMFYYPPKTPSALPV MPHPPPSNPPHKVPAPPVLP LSGHVSASSSPWVQRTPPPI PIPPPPSVPTQDLTPTRPLP SALEEALSNHPFRTGDTGNP VEDWEAKNHSGKPTNSPVPE QSFPPTPKTFCPSPQPPRGP GVSTISKPVMVHQEPNFIYR PAVKSEVLPQEMLKRMVVYQ TAFR in isoform 5.
VSP_043520
Alternative sequence550 – 5523TFF → ASLPSSVAESPQPVRKLLED RAAVHRHGFLLQLEPTDLLL KSKRGNQIHR in isoform 5.
VSP_043521
Natural variant5191E → D. Ref.1 Ref.3 Ref.6
Corresponds to variant rs1064074 [ dbSNP | Ensembl ].
VAR_012320

Experimental info

Mutagenesis1031R → H: Strongly reduced affinity for USH1G. Ref.17
Sequence conflict1031R → S in BAA81739. Ref.2
Sequence conflict2801S → N in AAC18049. Ref.1
Sequence conflict2801S → N in AAC18048. Ref.1
Sequence conflict3051A → T in BAA81739. Ref.2

Secondary structure

........................................................ 552
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 13, 2007. Version 3.
Checksum: 7E75CEE873C57F41

FASTA55262,211
        10         20         30         40         50         60 
MDRKVAREFR HKVDFLIEND AEKDYLYDVL RMYHQTMDVA VLVGDLKLVI NEPSRLPLFD 

        70         80         90        100        110        120 
AIRPLIPLKH QVEYDQLTPR RSRKLKEVRL DRLHPEGLGL SVRGGLEFGC GLFISHLIKG 

       130        140        150        160        170        180 
GQADSVGLQV GDEIVRINGY SISSCTHEEV INLIRTKKTV SIKVRHIGLI PVKSSPDEPL 

       190        200        210        220        230        240 
TWQYVDQFVS ESGGVRGSLG SPGNRENKEK KVFISLVGSR GLGCSISSGP IQKPGIFISH 

       250        260        270        280        290        300 
VKPGSLSAEV GLEIGDQIVE VNGVDFSNLD HKEAVNVLKS SRSLTISIVA AAGRELFMTD 

       310        320        330        340        350        360 
RERLAEARQR ELQRQELLMQ KRLAMESNKI LQEQQEMERQ RRKEIAQKAA EENERYRKEM 

       370        380        390        400        410        420 
EQIVEEEEKF KKQWEEDWGS KEQLLLPKTI TAEVHPVPLR KPKYDQGVEP ELEPADDLDG 

       430        440        450        460        470        480 
GTEEQGEQDF RKYEEGFDPY SMFTPEQIMG KDVRLLRIKK EGSLDLALEG GVDSPIGKVV 

       490        500        510        520        530        540 
VSAVYERGAA ERHGGIVKGD EIMAINGKIV TDYTLAEAEA ALQKAWNQGG DWIDLVVAVC 

       550 
PPKEYDDELT FF 

« Hide

Isoform 2 [UniParc].

Checksum: A303D7D48D91A847
Show »

FASTA52158,343
Isoform 3 [UniParc].

Checksum: AB350B62ED2C44FD
Show »

FASTA40345,812
Isoform 4 [UniParc].

Checksum: A9D7E121B11E2FBD
Show »

FASTA53360,329
Isoform 5 [UniParc].

Checksum: 6DA49F7674BFA920
Show »

FASTA899101,344

References

« Hide 'large scale' references
[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]"Identification of an autoimmune enteropathy-related 75-kilodalton antigen."
Kobayashi I., Imamura K., Kubota M., Ishikawa S., Yamada M., Tonoki H., Okano M., Storch W.B., Moriuchi T., Sakiyama Y., Kobayashi K.
Gastroenterology 117:823-830(1999) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Antigens recognized by autologous antibody in patients with renal-cell carcinoma."
Scanlan M.J., Gordan J.D., Williamson B., Stockert E., Bander N.H., Jongeneel C.V., Gure A.O., Jaeger D., Jaeger E., Knuth A., Chen Y.-T., Old L.J.
Int. J. Cancer 83:456-464(1999) [PubMed] [Europe PMC] [Abstract]
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]"An unappreciated role for RNA surveillance."
Hillman R.T., Green R.E., Brenner S.E.
Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Mutations of the USH1C gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_005700.2. NM_005709.3.
NP_710142.1. NM_153676.3.
XP_005252782.1. XM_005252725.2.
UniGeneHs.502072.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1X5NNMR-A201-301[»]
2KBQNMR-A1-80[»]
2KBRNMR-A1-80[»]
2KBSNMR-A208-299[»]
2LSRNMR-A1-80[»]
3K1RX-ray2.30A1-192[»]
ProteinModelPortalQ9Y6N9.
SMRQ9Y6N9. Positions 1-301, 441-552.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115392. 8 interactions.
DIPDIP-41473N.
IntActQ9Y6N9. 2 interactions.
MINTMINT-196953.
STRING9606.ENSP00000005226.

PTM databases

PhosphoSiteQ9Y6N9.

Polymorphism databases

DMDM160113087.

Proteomic databases

PaxDbQ9Y6N9.
PRIDEQ9Y6N9.

Protocols and materials databases

DNASU10083.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000005226; ENSP00000005226; ENSG00000006611. [Q9Y6N9-5]
ENST00000318024; ENSP00000317018; ENSG00000006611. [Q9Y6N9-1]
ENST00000526313; ENSP00000432236; ENSG00000006611. [Q9Y6N9-3]
ENST00000527020; ENSP00000436934; ENSG00000006611. [Q9Y6N9-4]
ENST00000527720; ENSP00000432944; ENSG00000006611. [Q9Y6N9-2]
GeneID10083.
KEGGhsa:10083.
UCSCuc001mnd.3. human. [Q9Y6N9-1]
uc001mne.3. human. [Q9Y6N9-5]
uc009yhb.3. human. [Q9Y6N9-4]

Organism-specific databases

CTD10083.
GeneCardsGC11M017515.
H-InvDBHIX0009478.
HGNCHGNC:12597. USH1C.
HPACAB013690.
HPA027398.
HPA027492.
HPA028033.
MIM276900. phenotype.
276904. phenotype.
602092. phenotype.
605242. gene.
neXtProtNX_Q9Y6N9.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBPA37226.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG255885.
HOGENOMHOG000126890.
HOVERGENHBG057181.
OMAEDWEAKN.
OrthoDBEOG75MVW2.
PhylomeDBQ9Y6N9.
TreeFamTF325033.

Gene expression databases

ArrayExpressQ9Y6N9.
BgeeQ9Y6N9.
CleanExHS_USH1C.
GenevestigatorQ9Y6N9.

Family and domain databases

Gene3D2.30.42.10. 3 hits.
InterProIPR001478. PDZ.
[Graphical view]
PfamPF00595. PDZ. 3 hits.
[Graphical view]
SMARTSM00228. PDZ. 3 hits.
[Graphical view]
SUPFAMSSF50156. SSF50156. 3 hits.
PROSITEPS50106. PDZ. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ9Y6N9.
GeneWikiUSH1C.
GenomeRNAi10083.
NextBio38119.
PROQ9Y6N9.
SOURCESearch...

Entry information

Entry nameUSH1C_HUMAN
AccessionPrimary (citable) accession number: Q9Y6N9
Secondary accession number(s): A8K423 expand/collapse secondary AC list , Q7RTU8, Q96B29, Q9UM04, Q9UM17, Q9UPC3
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: November 13, 2007
Last modified: April 16, 2014
This is version 130 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM