ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
Hosted by CBR CanadaMirror sites:China Korea Switzerland Taiwan USA
Search for

NiceProt View of Swiss-Prot: Q9UM54
[General] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents.
General information about the entry
Entry name MYO6_HUMAN
Primary accession number Q9UM54
Secondary accession numbers None
Entered in Swiss-Prot in Release 40, October 2001
Sequence was last modified in Release 40, October 2001
Annotations were last modified in    Release 41, February 2003
Name and origin of the protein
Protein name Myosin VI
Synonyms None
Gene name
MYO6
From
Homo sapiens (Human) [TaxID: 9606]
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
References
[1]
 SEQUENCE FROM NUCLEIC ACID.
MEDLINE=97402203; PubMed=9259267; [NCBI, ExPASy, EBI, Israel, Japan]
Avraham K.B., Hasson T., Sobe T., Balsara B., Testa J.R., Skvorak A.B., Morton C.C., Copeland N.G., Jenkins N.A.;
"Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice.";
Hum. Mol. Genet. 6:1225-1231(1997).
[2]
 REVISIONS.
Avraham K.B.;
Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases.
[3]
 FUNCTION.
MEDLINE=99447046; PubMed=10519557; [NCBI, ExPASy, EBI, Israel, Japan]
Wells A.L., Lin A.W., Chen L.-Q., Safer D., Cain S.M., Hasson T., Carragher B.O., Milligan R.A., Sweeney H.L.;
"Myosin VI is an actin-based motor that moves backwards.";
Nature 401:505-508(1999).
[4]
 VARIANT DFNA22 TYR-442.
MEDLINE=21375673; PubMed=11468689; [NCBI, ExPASy, EBI, Israel, Japan]
Melchionda S., Ahituv N., Bisceglia L., Sobe T., Glaser F., Rabionet R., Arbones M.L., Notarangelo A., Di Iorio E., Carella M., Zelante L., Estivill X., Avraham K.B., Gasparini P.;
"MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.";
Am. J. Hum. Genet. 69:635-640(2001).
Comments
  • FUNCTION: RECESSIVE ACTIN-BASED MOTOR. REQUIRED FOR STRUCTURAL INTEGRITY OF INNER EAR HAIR CELLS (BY SIMILARITY).
  • DISEASE: Defects in MYO6 are the cause of an autosomal dominant form of nonsyndromic sensorineural deafness (DFNA22). The deafness is progressive and postlingual, with onset during childhood (8 to 10 years of age at onset of symptoms; 6 to 8 years of age at onset of first audiometric abnormalities). By the age of approximately 50 years, affected individuals invariably have profound sensorineural deafness.
  • SIMILARITY: Contains 1 myosin-like globular head domain.
  • SIMILARITY: Contains 1 IQ domain.
Copyright
This SWISS-PROT entry is copyright. It is produced through a collaboration between the Swiss Institute of Bioinformatics and the EMBL outstation - the European Bioinformatics Institute. There are no restrictions on its use by non-profit institutions as long as its content is in no way modified and this statement is not removed. Usage by and for commercial entities requires a license agreement (See http://www.isb-sib.ch/announce/ or send an email to license@isb-sib.ch).
Cross-references
EMBL
U90236; AAC51654.2; -.[EMBL / GenBank / DDBJ] [CoDingSequence]
HSSP P08799; 1MND. [HSSP ENTRY / PDB]
Genew HGNC:7605; MYO6.
CleanEx HGNC:7605; MYO6.
MIM 600970 [NCBI / EBI].
606346 [NCBI / EBI].
GeneCards MYO6.
GeneLynx MYO6; Homo sapiens.
SOURCE MYO6; Homo sapiens.
Ensembl Q9UM54; Homo sapiens. [Entry / Contig view]
InterPro IPR000048; IQ_region.
IPR001609; myosin_head.
Graphical view of domain structure.
Pfam PF00063; myosin_head; 1.
PF00612; IQ; 1.
PRINTS PR00193; MYOSINHEAVY.
ProDom PD000355; myosin_head; 1.
[Domain structure / List of seq. sharing at least 1 domain].
SMART SM00015; IQ; 1.
SM00242; MYSc; 1.
PROSITE PS50096; IQ; FALSE_NEG.
BLOCKS Q9UM54.
ProtoNet Q9UM54.
ProtoMap Q9UM54.
PRESAGE Q9UM54.
DIP Q9UM54.
ModBase Q9UM54.
SWISS-2DPAGE Get region on 2D PAGE.
Keywords
Myosin; ATP-binding; Calmodulin-binding; Actin-binding; Coiled coil; Disease mutation; Deafness.
Features
KeyFrom   To Length Description
DOMAIN   1    759  759     MYOSIN HEAD-LIKE.
DOMAIN   814    834  21     IQ.
DOMAIN   848   1030  183     COILED COIL (POTENTIAL).
NP_BIND   151    158  8     ATP (POTENTIAL).
DOMAIN   665    672  8     ACTIN-BINDING (POTENTIAL).
VARIANT   442    442        C -> Y (IN DFNA22).
/FTId=VAR_012110.
FT aligner logo Feature aligner
SEVIEWER logo Feature table viewer
Sequence information
Length: 1262 AA Molecular weight: 146047 Da CRC64: CF1FA35796FC1C60 [This is a checksum on the sequence] 
        10         20         30         40         50         60 
         |          |          |          |          |          | 
MEDGKPVWAP HPTDGFQMGN IVDIGPDSLT IEPLNQKGKT FLALINQVFP AEEDSKKDVE 

        70         80         90        100        110        120 
         |          |          |          |          |          | 
DNCSLMYLNE ATLLHNIKVR YSKDRIYTYV ANILIAVNPY FDIPKIYSSE AIKSYQGKSL 

       130        140        150        160        170        180 
         |          |          |          |          |          | 
GTRPPHVFAI ADKAFRDMKV LKMSQSIIVS GESGAGKTEN TKFVLRYLTE SYGTGQDIDD 

       190        200        210        220        230        240 
         |          |          |          |          |          | 
RIVEANPLLE AFGNAKTVRN NNSSRFGKFV EIHFNEKSSV VGGFVSHYLL EKSRICVQGK 

       250        260        270        280        290        300 
         |          |          |          |          |          | 
EERNYHIFYR LCAGASEDIR EKLHLSSPDN FRYLNRGCTR YFANKETDKQ ILQNRKSPEY 

       310        320        330        340        350        360 
         |          |          |          |          |          | 
LKAGSMKDPL LDDHGDFIRM CTAMKKIGLD DEEKLDLFRV VAGVLHLGNI DFEEAGSTSG 

       370        380        390        400        410        420 
         |          |          |          |          |          | 
GCNLKNKSAQ SLEYCAELLG LDQDDLRVSL TTRVMLTTAG GTKGTVIKVP LKVEQANNAR 

       430        440        450        460        470        480 
         |          |          |          |          |          | 
DALAKTVYSH LFDHVVNRVN QCFPFETSSY FIGVLDIAGF EYFEHNSFEQ FCINYCNEKL 

       490        500        510        520        530        540 
         |          |          |          |          |          | 
QQFFNERILK EEQELYQKEG LGVNEVHYVD NQDCIDLIEA KLVGILDILD EENRLPQPSD 

       550        560        570        580        590        600 
         |          |          |          |          |          | 
QHFTSAVHQK HKDHFRLTIP RKSKLAVHRN IRDDEGFIIR HFAGAVCYET TQFVEKNNDA 

       610        620        630        640        650        660 
         |          |          |          |          |          | 
LHMSLESLIC ESRDKFIREL FESSTNNNKD TKQKAGKLSF ISVGNKFKTQ LNLLLDKLRS 

       670        680        690        700        710        720 
         |          |          |          |          |          | 
TGASFIRCIK PNLKMTSHHF EGAQILSQLQ CSGMVSVLDL MQGGYPSRAS FHELYNMYKK 

       730        740        750        760        770        780 
         |          |          |          |          |          | 
YMPDKLARLD PRLFCKALFK ALGLNENDYK FGLTKVFFRP GKFAEFDQIM KSDPDHLAEL 

       790        800        810        820        830        840 
         |          |          |          |          |          | 
VKRVNHWLTC SRWKKVQWCS LSVIKLKNKI KYRAEACIKM QKTIRMWLCK RRHKPRIDGL 

       850        860        870        880        890        900 
         |          |          |          |          |          | 
VKVGTLKKRL DKFNEVVSVL KDGKPEMNKQ IKNLEISIDT LMAKIKSTMM TQEQIQKEYD 

       910        920        930        940        950        960 
         |          |          |          |          |          | 
ALVKSSEELL SALQKKKQQE EEAERLRRIQ EEMEKERKRR EEDEKRRRKE EEERRMKLEM 

       970        980        990       1000       1010       1020 
         |          |          |          |          |          | 
EAKRKQEEEE RKKREDDEKR IQAEVEAQLA RQKEEESQQQ AVLEQERRDR ELALRIAQSE 

      1030       1040       1050       1060       1070       1080 
         |          |          |          |          |          | 
AELISDEAQA DLALRRGPAV LATKAAAGTK KYDLSKWKYA ELRDTINTSC DIELLAACRE 

      1090       1100       1110       1120       1130       1140 
         |          |          |          |          |          | 
EFHRRLKVYH AWKSKNKKRN TETEQRAPKS VTDYDFAPFL NNSPQQNPAA QIPARQREIE 

      1150       1160       1170       1180       1190       1200 
         |          |          |          |          |          | 
MNRQQRFFRI PFIRPADQYK DPQSKKKGWW YAHFDGPWIA RQMELHPDKP PILLVAGKDD 

      1210       1220       1230       1240       1250       1260 
         |          |          |          |          |          | 
MEMCELNLEE TGLTRKRGAE ILPRQFEEIW ERCGGIQYLQ NAIESRQARP TYATAMLQSL 



LK
Q9UM54 in FASTA format

View entry in original Swiss-Prot format
View entry in raw text format (no links)
Report form for errors/updates in this Swiss-Prot entry

BLAST logo BLAST submission on ExPASy/SIB
or at NCBI (USA) 		Tools Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
PROSITE logo ScanProsite, MotifScan SWISS-MODEL Search the SWISS-MODEL Repository
ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
Hosted by CBR CanadaMirror sites:China Korea Switzerland Taiwan USA