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Q495M9

- USH1G_HUMAN

UniProt

Q495M9 - USH1G_HUMAN

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Protein

Usher syndrome type-1G protein

Gene

USH1G

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.1 Publication

GO - Molecular functioni

  1. spectrin binding Source: MGI

GO - Biological processi

  1. equilibrioception Source: HGNC
  2. inner ear morphogenesis Source: Ensembl
  3. inner ear receptor cell differentiation Source: Ensembl
  4. photoreceptor cell maintenance Source: HGNC
  5. sensory perception of light stimulus Source: HGNC
  6. sensory perception of sound Source: HGNC
Complete GO annotation...

Keywords - Biological processi

Hearing

Enzyme and pathway databases

SignaLinkiQ495M9.

Names & Taxonomyi

Protein namesi
Recommended name:
Usher syndrome type-1G protein
Alternative name(s):
Scaffold protein containing ankyrin repeats and SAM domain
Gene namesi
Name:USH1G
Synonyms:SANS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:16356. USH1G.

Subcellular locationi

Cytoplasmcytosol. Cytoplasmcytoskeleton. Cell membrane By similarity; Peripheral membrane protein By similarity
Note: Detected at the tip of cochlear hair cell stereocilia. Recruited to the cell membrane via interaction with CDH23 or PCDH15 (By similarity).By similarity

GO - Cellular componenti

  1. actin cytoskeleton Source: HGNC
  2. cytoplasm Source: UniProtKB-KW
  3. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Usher syndrome 1G (USH1G) [MIM:606943]: 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481L → P in USH1G. 1 Publication
VAR_023739
Natural varianti458 – 4581D → V in USH1G; atypical form with mild retinitis pigmentosa and normal vestibular function; also found in patients with autosomal recessive non-syndromic deafness; strongly reduced affinity for USH1C. 1 Publication
VAR_060468

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi307 – 3071F → E: Reduced affinity for MYO7A. 1 Publication
Mutagenesisi317 – 3171F → E: Reduced affinity for MYO7A. 1 Publication
Mutagenesisi374 – 3741W → Q: Strongly reduced affinity for MYO7A. 1 Publication

Keywords - Diseasei

Deafness, Disease mutation, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

MIMi276900. phenotype.
606943. phenotype.
Orphaneti231169. Usher syndrome type 1.
PharmGKBiPA38126.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 461461Usher syndrome type-1G proteinPRO_0000067077Add
BLAST

Proteomic databases

PaxDbiQ495M9.
PRIDEiQ495M9.

PTM databases

PhosphoSiteiQ495M9.

Expressioni

Tissue specificityi

Expressed in vestibule of the inner ear, eye and small intestine.1 Publication

Gene expression databases

BgeeiQ495M9.
CleanExiHS_USH1G.
ExpressionAtlasiQ495M9. baseline and differential.
GenevestigatoriQ495M9.

Organism-specific databases

HPAiHPA024360.

Interactioni

Subunit structurei

Interacts with CDH23 and PCDH15; these interactions may recruit USH1G to the plasma membrane (By similarity). Interacts with USH1C (via the first PDZ domain) and with USH1G. Interacts with PDZD7. Interacts with MYO7A. Part of a complex composed of USH1C, USH1G and MYO7A.By similarity5 Publications

Protein-protein interaction databases

DIPiDIP-41617N.
MINTiMINT-257481.
STRINGi9606.ENSP00000320076.

Structurei

Secondary structure

1
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi307 – 3093Combined sources
Turni310 – 3123Combined sources
Beta strandi313 – 3153Combined sources
Beta strandi375 – 3773Combined sources
Helixi391 – 3977Combined sources
Turni398 – 4003Combined sources
Helixi402 – 4043Combined sources
Helixi405 – 4106Combined sources
Helixi415 – 4184Combined sources
Helixi423 – 4286Combined sources
Helixi433 – 45119Combined sources
Beta strandi459 – 4613Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2L7TNMR-A370-380[»]
3K1RX-ray2.30B388-461[»]
3PVLX-ray2.80B295-390[»]
ProteinModelPortaliQ495M9.
SMRiQ495M9. Positions 7-149, 388-461.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ495M9.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati31 – 6030ANK 1Add
BLAST
Repeati64 – 9330ANK 2Add
BLAST
Repeati97 – 12630ANK 3Add
BLAST
Domaini385 – 44763SAMAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi444 – 4474Poly-Arg

Sequence similaritiesi

Contains 3 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiCOG0666.
GeneTreeiENSGT00390000017548.
HOGENOMiHOG000007847.
HOVERGENiHBG051882.
InParanoidiQ495M9.
OMAiMKGHMEC.
OrthoDBiEOG70GMFR.
PhylomeDBiQ495M9.
TreeFamiTF324946.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q495M9-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MNDQYHRAAR DGYLELLKEA TRKELNAPDE DGMTPTLWAA YHGNLESLRL
60 70 80 90 100
IVSRGGDPDK CDIWGNTPLH LAASNGHLHC LSFLVSFGAN IWCLDNDYHT
110 120 130 140 150
PLDMAAMKGH MECVRYLDSI AAKQSSLNPK LVGKLKDKAF REAERRIREC
160 170 180 190 200
AKLQRRHHER MERRYRRELA ERSDTLSFSS LTSSTLSRRL QHLALGSHLP
210 220 230 240 250
YSQATLHGTA RGKTKMQKKL ERRKQGGEGT FKVSEDGRKS ARSLSGLQLG
260 270 280 290 300
SDVMFVRQGT YANPKEWGRA PLRDMFLSDE DSVSRATLAA EPAHSEVSTD
310 320 330 340 350
SGHDSLFTRP GLGTMVFRRN YLSSGLHGLG REDGGLDGVG APRGRLQSSP
360 370 380 390 400
SLDDDSLGSA NSLQDRSCGE ELPWDELDLG LDEDLEPETS PLETFLASLH
410 420 430 440 450
MEDFAALLRQ EKIDLEALML CSDLDLRSIS VPLGPRKKIL GAVRRRRQAM
460
ERPPALEDTE L
Length:461
Mass (Da):51,489
Last modified:September 13, 2005 - v1
Checksum:iB0ABB9F5711A5095
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti300 – 3001D → N in BAC03619. (PubMed:14702039)Curated
Sequence conflicti402 – 4021E → G in BAC03619. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481L → P in USH1G. 1 Publication
VAR_023739
Natural varianti458 – 4581D → V in USH1G; atypical form with mild retinitis pigmentosa and normal vestibular function; also found in patients with autosomal recessive non-syndromic deafness; strongly reduced affinity for USH1C. 1 Publication
VAR_060468

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091243 mRNA. Translation: BAC03619.1.
BC101096 mRNA. Translation: AAI01097.1.
BC101097 mRNA. Translation: AAI01098.1.
BC101098 mRNA. Translation: AAI01099.1.
BC101099 mRNA. Translation: AAI01100.1.
CCDSiCCDS32725.1.
RefSeqiNP_001269418.1. NM_001282489.2.
NP_775748.2. NM_173477.4.
UniGeneiHs.376688.

Genome annotation databases

EnsembliENST00000614341; ENSP00000480279; ENSG00000182040.
GeneIDi124590.
KEGGihsa:124590.
UCSCiuc002jme.1. human.

Polymorphism databases

DMDMi81175048.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091243 mRNA. Translation: BAC03619.1 .
BC101096 mRNA. Translation: AAI01097.1 .
BC101097 mRNA. Translation: AAI01098.1 .
BC101098 mRNA. Translation: AAI01099.1 .
BC101099 mRNA. Translation: AAI01100.1 .
CCDSi CCDS32725.1.
RefSeqi NP_001269418.1. NM_001282489.2.
NP_775748.2. NM_173477.4.
UniGenei Hs.376688.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2L7T NMR - A 370-380 [» ]
3K1R X-ray 2.30 B 388-461 [» ]
3PVL X-ray 2.80 B 295-390 [» ]
ProteinModelPortali Q495M9.
SMRi Q495M9. Positions 7-149, 388-461.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

DIPi DIP-41617N.
MINTi MINT-257481.
STRINGi 9606.ENSP00000320076.

PTM databases

PhosphoSitei Q495M9.

Polymorphism databases

DMDMi 81175048.

Proteomic databases

PaxDbi Q495M9.
PRIDEi Q495M9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000614341 ; ENSP00000480279 ; ENSG00000182040 .
GeneIDi 124590.
KEGGi hsa:124590.
UCSCi uc002jme.1. human.

Organism-specific databases

CTDi 124590.
GeneCardsi GC17M072912.
GeneReviewsi USH1G.
HGNCi HGNC:16356. USH1G.
HPAi HPA024360.
MIMi 276900. phenotype.
606943. phenotype.
607696. gene.
neXtProti NX_Q495M9.
Orphaneti 231169. Usher syndrome type 1.
PharmGKBi PA38126.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0666.
GeneTreei ENSGT00390000017548.
HOGENOMi HOG000007847.
HOVERGENi HBG051882.
InParanoidi Q495M9.
OMAi MKGHMEC.
OrthoDBi EOG70GMFR.
PhylomeDBi Q495M9.
TreeFami TF324946.

Enzyme and pathway databases

SignaLinki Q495M9.

Miscellaneous databases

EvolutionaryTracei Q495M9.
GeneWikii USH1G.
GenomeRNAii 124590.
NextBioi 81331.
PROi Q495M9.
SOURCEi Search...

Gene expression databases

Bgeei Q495M9.
CleanExi HS_USH1G.
ExpressionAtlasi Q495M9. baseline and differential.
Genevestigatori Q495M9.

Family and domain databases

Gene3Di 1.10.150.50. 1 hit.
1.25.40.20. 1 hit.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view ]
Pfami PF12796. Ank_2. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view ]
SMARTi SM00248. ANK. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view ]
SUPFAMi SSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEi PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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].
    Tissue: Tongue.
  2. "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].
  3. "Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment."
    Schneider E., Marker T., Daser A., Frey-Mahn G., Beyer V., Farcas R., Schneider-Ratzke B., Kohlschmidt N., Grossmann B., Bauss K., Napiontek U., Keilmann A., Bartsch O., Zechner U., Wolfrum U., Haaf T.
    Hum. Mol. Genet. 18:655-666(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PDZD7.
  4. "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: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN A COMPLEX WITH MYO7A; USH1C AND USH1G.
  5. "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 388-461 IN COMPLEX WITH USH1C, INTERACTION WITH USH1C, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT USH1G VAL-458.
  6. "Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo."
    Wu L., Pan L., Wei Z., Zhang M.
    Science 331:757-760(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 295-390 IN COMPLEX WITH MYO7A, STRUCTURE BY NMR OF 370-380, INTERACTION WITH MYO7A, MUTAGENESIS OF PHE-307; PHE-317 AND TRP-374.
  7. "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: VARIANT USH1G PRO-48, INTERACTION WITH USH1C, TISSUE SPECIFICITY, POSSIBLE FUNCTION.
  8. Cited for: VARIANT USH1G VAL-458.

Entry informationi

Entry nameiUSH1G_HUMAN
AccessioniPrimary (citable) accession number: Q495M9
Secondary accession number(s): Q8N251
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: September 13, 2005
Last modified: November 26, 2014
This is version 97 of the entry and version 1 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 17
    Human chromosome 17: 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

Dasty 3