Q9Y6N9 (USH1C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	USH1C
Synonyms:	AIE75

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	552 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytosol. Cytoplasm › cytoskeleton. 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 process	Hearing
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Deafness Non-syndromic deafness Retinitis pigmentosa Usher syndrome
Domain	Coiled coil Repeat
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	G2/M transition of mitotic cell cycle Inferred from mutant phenotype PubMed 15219944. Source: HGNC auditory receptor cell differentiation Inferred from electronic annotation. Source: Compara equilibrioception Inferred from mutant phenotype Ref.8. Source: HGNC inner ear morphogenesis Inferred from electronic annotation. Source: Compara parallel actin filament bundle assembly Inferred from electronic annotation. Source: Compara photoreceptor cell maintenance Inferred from mutant phenotype PubMed 11398101. Source: HGNC sensory perception of sound Inferred from mutant phenotype PubMed 11398101. Source: HGNC
Cellular_component	apical 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: Compara photoreceptor outer segment Inferred from electronic annotation. Source: Compara plasma membrane Inferred from electronic annotation. Source: Compara stereocilium Traceable author statement PubMed 16464467. Source: HGNC synapse Inferred from electronic annotation. Source: Compara
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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 552

552

Harmonin

PRO_0000065727

Regions

Domain

87 – 169

83

PDZ 1

Domain

211 – 293

83

PDZ 2

Domain

452 – 537

86

PDZ 3

Region

1 – 86

86

N-terminal domain

Coiled coil

310 – 377

68

Potential

Natural variations

Alternative sequence

1 – 31

31

Missing in isoform 2.

VSP_003789

Alternative sequence

274 – 292

19

Missing in isoform 4.

VSP_007422

Alternative sequence

404 – 552

149

Missing in isoform 3.

VSP_003790

Alternative sequence

404 – 427

24

YDQGV…EEQGE → SFGWFYRYDGKFPTIRKKGK DKKKAKYGSLQDLRKNKKEL EFEQKLYKEKEEMLEKEKQL KINRLAQEVSETEREDLEES EKIQYWVERLCQTRLEQISS ADNEISEMTTGPPPPPPSVS PLAPPLRRFAGGLHLHTTDL DDIPLDMFYYPPKTPSALPV MPHPPPSNPPHKVPAPPVLP LSGHVSASSSPWVQRTPPPI PIPPPPSVPTQDLTPTRPLP SALEEALSNHPFRTGDTGNP VEDWEAKNHSGKPTNSPVPE QSFPPTPKTFCPSPQPPRGP GVSTISKPVMVHQEPNFIYR PAVKSEVLPQEMLKRMVVYQ TAFR in isoform 5.

VSP_043520

Alternative sequence

550 – 552

3

TFF → ASLPSSVAESPQPVRKLLED RAAVHRHGFLLQLEPTDLLL KSKRGNQIHR in isoform 5.

VSP_043521

Natural variant

519

1

E → D. Ref.1 Ref.3 Ref.6
Corresponds to variant rs1064074 [ dbSNP | Ensembl ].

VAR_012320

Experimental info

Mutagenesis

103

1

R → H: Strongly reduced affinity for USH1G. Ref.17

Sequence conflict

103

1

R → S in BAA81739. Ref.2

Sequence conflict

280

1

S → N in AAC18049. Ref.1

Sequence conflict

280

1

S → N in AAC18048. Ref.1

Sequence conflict

305

1

A → T in BAA81739. Ref.2

Secondary structure

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552

Helix Strand Turn

Details...

Helix

2 – 16

15

Helix

20 – 36

17

Helix

39 – 46

8

Turn

47 – 49

3

Helix

53 – 56

4

Helix

57 – 62

6

Helix

63 – 65

3

Helix

68 – 70

3

Helix

71 – 77

7

Beta strand

86 – 91

6

Beta strand

100 – 105

6

Helix

106 – 108

3

Beta strand

110 – 117

8

Helix

122 – 125

4

Beta strand

132 – 137

6

Helix

147 – 154

8

Beta strand

156 – 166

11

Beta strand

169 – 172

4

Beta strand

181 – 184

4

Helix

185 – 191

7

Beta strand

208 – 214

7

Beta strand

217 – 220

4

Beta strand

224 – 228

5

Beta strand

231 – 233

3

Beta strand

235 – 241

7

Turn

246 – 251

6

Beta strand

257 – 261

5

Helix

273 – 280

8

Beta strand

282 – 288

7

Turn

292 – 294

3

Helix

295 – 298

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 13, 2007. Version 3. Checksum: 7E75CEE873C57F41	FASTA	552	62,211
	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
	Isoform 2 [UniParc]. Checksum: A303D7D48D91A847	FASTA	521	58,343
	10 20 30 40 50 60 MYHQTMDVAV LVGDLKLVIN EPSRLPLFDA IRPLIPLKHQ VEYDQLTPRR SRKLKEVRLD 70 80 90 100 110 120 RLHPEGLGLS VRGGLEFGCG LFISHLIKGG QADSVGLQVG DEIVRINGYS ISSCTHEEVI 130 140 150 160 170 180 NLIRTKKTVS IKVRHIGLIP VKSSPDEPLT WQYVDQFVSE SGGVRGSLGS PGNRENKEKK 190 200 210 220 230 240 VFISLVGSRG LGCSISSGPI QKPGIFISHV KPGSLSAEVG LEIGDQIVEV NGVDFSNLDH 250 260 270 280 290 300 KEAVNVLKSS RSLTISIVAA AGRELFMTDR ERLAEARQRE LQRQELLMQK RLAMESNKIL 310 320 330 340 350 360 QEQQEMERQR RKEIAQKAAE ENERYRKEME QIVEEEEKFK KQWEEDWGSK EQLLLPKTIT 370 380 390 400 410 420 AEVHPVPLRK PKYDQGVEPE LEPADDLDGG TEEQGEQDFR KYEEGFDPYS MFTPEQIMGK 430 440 450 460 470 480 DVRLLRIKKE GSLDLALEGG VDSPIGKVVV SAVYERGAAE RHGGIVKGDE IMAINGKIVT 490 500 510 520 DYTLAEAEAA LQKAWNQGGD WIDLVVAVCP PKEYDDELTF F
	Isoform 3 [UniParc]. Checksum: AB350B62ED2C44FD	FASTA	403	45,812
	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 EQIVEEEEKF KKQWEEDWGS KEQLLLPKTI TAEVHPVPLR KPK
	Isoform 4 [UniParc]. Checksum: A9D7E121B11E2FBD	FASTA	533	60,329
	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 HKEGRELFMT DRERLAEARQ RELQRQELLM 310 320 330 340 350 360 QKRLAMESNK ILQEQQEMER QRRKEIAQKA AEENERYRKE MEQIVEEEEK FKKQWEEDWG 370 380 390 400 410 420 SKEQLLLPKT ITAEVHPVPL RKPKYDQGVE PELEPADDLD GGTEEQGEQD FRKYEEGFDP 430 440 450 460 470 480 YSMFTPEQIM GKDVRLLRIK KEGSLDLALE GGVDSPIGKV VVSAVYERGA AERHGGIVKG 490 500 510 520 530 DEIMAINGKI VTDYTLAEAE AALQKAWNQG GDWIDLVVAV CPPKEYDDEL TFF
	Isoform 5 [UniParc]. Checksum: 6DA49F7674BFA920	FASTA	899	101,344
	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 KPKSFGWFYR YDGKFPTIRK 430 440 450 460 470 480 KGKDKKKAKY GSLQDLRKNK KELEFEQKLY KEKEEMLEKE KQLKINRLAQ EVSETEREDL 490 500 510 520 530 540 EESEKIQYWV ERLCQTRLEQ ISSADNEISE MTTGPPPPPP SVSPLAPPLR RFAGGLHLHT 550 560 570 580 590 600 TDLDDIPLDM FYYPPKTPSA LPVMPHPPPS NPPHKVPAPP VLPLSGHVSA SSSPWVQRTP 610 620 630 640 650 660 PPIPIPPPPS VPTQDLTPTR PLPSALEEAL SNHPFRTGDT GNPVEDWEAK NHSGKPTNSP 670 680 690 700 710 720 VPEQSFPPTP KTFCPSPQPP RGPGVSTISK PVMVHQEPNF IYRPAVKSEV LPQEMLKRMV 730 740 750 760 770 780 VYQTAFRQDF RKYEEGFDPY SMFTPEQIMG KDVRLLRIKK EGSLDLALEG GVDSPIGKVV 790 800 810 820 830 840 VSAVYERGAA ERHGGIVKGD EIMAINGKIV TDYTLAEAEA ALQKAWNQGG DWIDLVVAVC 850 860 870 880 890 PPKEYDDELA SLPSSVAESP QPVRKLLEDR AAVHRHGFLL QLEPTDLLLK SKRGNQIHR

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.

IPI

IPI00215861.
IPI00218195.
IPI00412105.
IPI00478105.
IPI00478519.

RefSeq

NP_005700.2. NM_005709.3.
NP_710142.1. NM_153676.3.

UniGene

Hs.502072.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

Q9Y6N9.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-41473N.

IntAct

Q9Y6N9. 1 interaction.

MINT

MINT-196953.

STRING

9606.ENSP00000005226.

PTM databases

PhosphoSite

Q9Y6N9.

Polymorphism databases

DMDM

160113087.

Proteomic databases

PaxDb

Q9Y6N9.

PRIDE

Q9Y6N9.

Protocols and materials databases

DNASU

10083.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000005226; ENSP00000005226; ENSG00000006611.
ENST00000318024; ENSP00000317018; ENSG00000006611.
ENST00000526313; ENSP00000432236; ENSG00000006611.
ENST00000527020; ENSP00000436934; ENSG00000006611.
ENST00000527720; ENSP00000432944; ENSG00000006611.

GeneID

10083.

KEGG

hsa:10083.

UCSC

uc001mnd.3. human.
uc001mne.3. human.
uc009yhb.3. human.

Organism-specific databases

CTD

10083.

GeneCards

GC11M017515.

H-InvDB

HIX0009478.

HGNC

HGNC:12597. USH1C.

HPA

CAB013690.
HPA027398.
HPA027492.
HPA028033.

MIM

276900. phenotype.
276904. phenotype.
602092. phenotype.
605242. gene.

neXtProt

NX_Q9Y6N9.

Orphanet

90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.

PharmGKB

PA37226.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG255885.

HOGENOM

HOG000126890.

HOVERGEN

HBG057181.

OMA

KRLAMES.

Gene expression databases

ArrayExpress

Q9Y6N9.

Bgee

Q9Y6N9.

CleanEx

HS_USH1C.

Genevestigator

Q9Y6N9.

GermOnline

ENSG00000006611. Homo sapiens.

Family and domain databases

InterPro

IPR001478. PDZ.
[Graphical view]

Pfam

PF00595. PDZ. 3 hits.
[Graphical view]

SMART

SM00228. PDZ. 3 hits.
[Graphical view]

SUPFAM

SSF50156. PDZ. 3 hits.

PROSITE

PS50106. PDZ. 3 hits.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q9Y6N9.

GenomeRNAi

10083.

NextBio

38119.

SOURCE

Search...

Entry information

Entry name

USH1C_HUMAN

Accession

Primary (citable) accession number: Q9Y6N9
Secondary accession number(s): A8K423 , Q7RTU8, Q96B29, Q9UM04, Q9UM17, Q9UPC3

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2002
Last sequence update:	November 13, 2007
Last modified:	May 29, 2013
This is version 122 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.