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Q9UM54

- MYO6_HUMAN

UniProt

Q9UM54 - MYO6_HUMAN

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Protein
Unconventional myosin-VI
Gene
MYO6, KIAA0389
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration. Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells. May act as a regulator of F-actin dynamics. May play a role in transporting DAB2 from the plasma membrane to specific cellular targets. Required for structural integrity of inner ear hair cells By similarity.4 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi151 – 1588ATP Reviewed prediction

GO - Molecular functioni

  1. ADP binding Source: UniProtKB
  2. ATP binding Source: UniProtKB-KW
  3. actin binding Source: UniProtKB
  4. actin filament binding Source: UniProtKB
  5. calmodulin binding Source: UniProtKB
  6. minus-end directed microfilament motor activity Source: UniProtKB
  7. motor activity Source: UniProtKB
  8. protein binding Source: UniProtKB

GO - Biological processi

  1. DNA damage response, signal transduction by p53 class mediator Source: UniProtKB
  2. actin filament-based movement Source: UniProtKB
  3. auditory receptor cell differentiation Source: Ensembl
  4. cellular response to electrical stimulus Source: Ensembl
  5. dendrite development Source: Ensembl
  6. endocytosis Source: UniProtKB
  7. glutamate secretion Source: Ensembl
  8. inner ear morphogenesis Source: Ensembl
  9. intracellular protein transport Source: UniProtKB
  10. locomotory behavior Source: Ensembl
  11. membrane organization Source: Reactome
  12. metabolic process Source: GOC
  13. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  14. protein targeting Source: Ensembl
  15. regulation of secretion Source: UniProtKB
  16. regulation of synaptic plasticity Source: Ensembl
  17. response to drug Source: Ensembl
  18. sensory perception of sound Source: UniProtKB-KW
  19. synapse assembly Source: Ensembl
  20. synaptic transmission Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Myosin

Keywords - Biological processi

Endocytosis, Hearing, Protein transport, Transport

Keywords - Ligandi

Actin-binding, ATP-binding, Calmodulin-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_11035. Gap junction degradation.
REACT_18307. Trafficking of AMPA receptors.

Names & Taxonomyi

Protein namesi
Recommended name:
Unconventional myosin-VI
Alternative name(s):
Unconventional myosin-6
Gene namesi
Name:MYO6
Synonyms:KIAA0389
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:7605. MYO6.

Subcellular locationi

Golgi apparatustrans-Golgi network membrane; Peripheral membrane protein. Golgi apparatus By similarity. Nucleus. Cytoplasmperinuclear region. Membraneclathrin-coated pit. Cell projectionruffle membrane; Peripheral membrane protein
Note: Also present in endocyctic vesicles, and membrane ruffles. Translocates from membrane ruffles, endocytic vesicles and cytoplasm to Golgi apparatus, perinuclear membrane and nucleus through induction by p53 and p53-induced DNA damage. Recruited into membrane ruffles from cell surface by EGF-stimulation. Colocalizes with DAB2 in clathrin-coated pits/vesicles. Colocalizes with OPTN at the Golgi complex and in vesicular structures close to the plasma membrane By similarity.2 Publications
Isoform 3 : Cytoplasmic vesicleclathrin-coated vesicle membrane 2 Publications
Isoform 4 : Cytoplasmic vesicleclathrin-coated vesicle membrane. Cell projectionruffle membrane 2 Publications

GO - Cellular componenti

  1. DNA-directed RNA polymerase II, holoenzyme Source: UniProtKB
  2. Golgi apparatus Source: UniProtKB
  3. apical part of cell Source: Ensembl
  4. axon Source: Ensembl
  5. cell cortex Source: UniProtKB
  6. clathrin-coated vesicle membrane Source: UniProtKB-SubCell
  7. coated pit Source: UniProtKB-SubCell
  8. cytoplasm Source: UniProtKB
  9. cytoplasmic membrane-bounded vesicle Source: UniProtKB
  10. cytosol Source: Reactome
  11. endocytic vesicle Source: Ensembl
  12. extracellular vesicular exosome Source: UniProt
  13. filamentous actin Source: UniProtKB
  14. lysosomal membrane Source: Reactome
  15. microvillus Source: Ensembl
  16. neuronal cell body Source: Ensembl
  17. nuclear membrane Source: UniProtKB
  18. nucleoplasm Source: UniProtKB
  19. nucleus Source: UniProtKB
  20. perinuclear region of cytoplasm Source: UniProtKB
  21. plasma membrane Source: Reactome
  22. ruffle Source: UniProtKB
  23. ruffle membrane Source: UniProtKB-SubCell
  24. unconventional myosin complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Coated pit, Cytoplasm, Cytoplasmic vesicle, Golgi apparatus, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 22 (DFNA22) [MIM:606346]: 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. DFNA22 is progressive and postlingual, with onset during childhood. By the age of approximately 50 years, affected individuals invariably have profound sensorineural deafness.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti442 – 4421C → Y in DFNA22. 1 Publication
VAR_012110
Deafness, autosomal recessive, 37 (DFNB37) [MIM:607821]: 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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti216 – 2161E → V in DFNB37. 1 Publication
Corresponds to variant rs28936390 [ dbSNP | Ensembl ].
VAR_016209
Deafness, sensorineural, with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]: An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti246 – 2461H → R in DFNHCM. 1 Publication
Corresponds to variant rs28936391 [ dbSNP | Ensembl ].
VAR_029988

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

MIMi606346. phenotype.
607821. phenotype.
Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
228012. Progressive sensorineural hearing loss - hypertrophic cardiomyopathy.
PharmGKBiPA31410.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12941294Unconventional myosin-VI
PRO_0000123464Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei405 – 4051Phosphothreonine By similarity

Post-translational modificationi

Phosphorylation in the motor domain, induced by EGF, results in translocation of MYO6 from the cell surface to membrane ruffles and affects F-actin dynamics. Phosphorylated in vitro by p21-activated kinase (PAK) By similarity.

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9UM54.
PaxDbiQ9UM54.
PRIDEiQ9UM54.

PTM databases

PhosphoSiteiQ9UM54.

Expressioni

Tissue specificityi

Expressed in most tissues examined including heart, brain, placenta, pancreas, spleen, thymus, prostate, testis, ovary, small intestine and colon. Highest levels in brain, pancreas, testis and small intestine. Also expressed in fetal brain and cochlea. Isoform 1 and isoform 2, containing the small insert, and isoform 4, containing neither insert, are expressed in unpolarized epithelial cells.1 Publication

Gene expression databases

ArrayExpressiQ9UM54.
BgeeiQ9UM54.
CleanExiHS_MYO6.
GenevestigatoriQ9UM54.

Organism-specific databases

HPAiCAB010762.

Interactioni

Subunit structurei

Homodimer. Binding to calmodulin through a unique insert, not found in other myosins, located in the neck region between the motor domain and the IQ domain appears to contribute to the directionality reversal. This interaction occurs only if the C-terminal lobe of calmodulin is occupied by calcium. Interaction with F-actin/ACTN1 occurs only at the apical brush border domain of the proximal tubule cells By similarity. Interacts with DAB2. In vitro, the C-terminal globular tail binds a C-terminal region of DAB2. Interacts with CFTR. Forms a complex with CFTR and DAB2 in the apical membrane of epithelial cells. Interacts with OPTN By similarity.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
DAB2P980823EBI-350606,EBI-1171238
Dab2P980784EBI-350606,EBI-1391846From a different organism.

Protein-protein interaction databases

BioGridi110730. 29 interactions.
DIPiDIP-33123N.
IntActiQ9UM54. 15 interactions.
MINTiMINT-239443.
STRINGi9606.ENSP00000358994.

Structurei

3D structure databases

ProteinModelPortaliQ9UM54.
SMRiQ9UM54. Positions 2-922, 1175-1277.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini57 – 771715Myosin motor
Add
BLAST
Domaini814 – 83421IQ
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni273 – 31745Responsible for slow ATPase activity By similarity
Add
BLAST
Regioni665 – 6728Actin-binding Reviewed prediction
Regioni782 – 81029Required for binding calmodulin By similarity
Add
BLAST
Regioni1116 – 11183Interaction with OPTN

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili864 – 1023160 Reviewed prediction
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi920 – 1027108Glu-rich
Add
BLAST

Domaini

Divided into three regions: a N-terminal motor (head) domain, followed by a neck domain consisting of a calmodulin-binding linker domain and a single IQ motif, and a C-terminal tail region with a coiled-coil and a unique globular domain required for interaction with other proteins.

Sequence similaritiesi

Contains 1 IQ domain.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiCOG5022.
HOVERGENiHBG003523.
InParanoidiQ9UM54.
KOiK10358.
OrthoDBiEOG7TQTZZ.
PhylomeDBiQ9UM54.
TreeFamiTF351449.

Family and domain databases

InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00063. Myosin_head. 1 hit.
[Graphical view]
PRINTSiPR00193. MYOSINHEAVY.
SMARTiSM00015. IQ. 1 hit.
SM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. Align

Isoform 3 (identifier: Q9UM54-3) [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

MEDGKPVWAP HPTDGFQMGN IVDIGPDSLT IEPLNQKGKT FLALINQVFP     50
AEEDSKKDVE DNCSLMYLNE ATLLHNIKVR YSKDRIYTYV ANILIAVNPY 100
FDIPKIYSSE AIKSYQGKSL GTRPPHVFAI ADKAFRDMKV LKMSQSIIVS 150
GESGAGKTEN TKFVLRYLTE SYGTGQDIDD RIVEANPLLE AFGNAKTVRN 200
NNSSRFGKFV EIHFNEKSSV VGGFVSHYLL EKSRICVQGK EERNYHIFYR 250
LCAGASEDIR EKLHLSSPDN FRYLNRGCTR YFANKETDKQ ILQNRKSPEY 300
LKAGSMKDPL LDDHGDFIRM CTAMKKIGLD DEEKLDLFRV VAGVLHLGNI 350
DFEEAGSTSG GCNLKNKSAQ SLEYCAELLG LDQDDLRVSL TTRVMLTTAG 400
GTKGTVIKVP LKVEQANNAR DALAKTVYSH LFDHVVNRVN QCFPFETSSY 450
FIGVLDIAGF EYFEHNSFEQ FCINYCNEKL QQFFNERILK EEQELYQKEG 500
LGVNEVHYVD NQDCIDLIEA KLVGILDILD EENRLPQPSD QHFTSAVHQK 550
HKDHFRLTIP RKSKLAVHRN IRDDEGFIIR HFAGAVCYET TQFVEKNNDA 600
LHMSLESLIC ESRDKFIREL FESSTNNNKD TKQKAGKLSF ISVGNKFKTQ 650
LNLLLDKLRS TGASFIRCIK PNLKMTSHHF EGAQILSQLQ CSGMVSVLDL 700
MQGGYPSRAS FHELYNMYKK YMPDKLARLD PRLFCKALFK ALGLNENDYK 750
FGLTKVFFRP GKFAEFDQIM KSDPDHLAEL VKRVNHWLTC SRWKKVQWCS 800
LSVIKLKNKI KYRAEACIKM QKTIRMWLCK RRHKPRIDGL VKVGTLKKRL 850
DKFNEVVSVL KDGKPEMNKQ IKNLEISIDT LMAKIKSTMM TQEQIQKEYD 900
ALVKSSEELL SALQKKKQQE EEAERLRRIQ EEMEKERKRR EEDEKRRRKE 950
EEERRMKLEM EAKRKQEEEE RKKREDDEKR IQAEVEAQLA RQKEEESQQQ 1000
AVLEQERRDR ELALRIAQSE AELISDEAQA DLALRRSLDS YPVSKNDGTR 1050
PKMTPEQMAK EMSEFLSRGP AVLATKAAAG TKKYDLSKWK YAELRDTINT 1100
SCDIELLAAC REEFHRRLKV YHAWKSKNKK RNTETEQRAP KSVTDYDFAP 1150
FLNNSPQQNP AAQIPARQRE IEMNRQQRFF RIPFIRPADQ YKDPQSKKKG 1200
WWYAHFDGPW IARQMELHPD KPPILLVAGK DDMEMCELNL EETGLTRKRG 1250
AEILPRQFEE IWERCGGIQY LQNAIESRQA RPTYATAMLQ SLLK 1294
Length:1,294
Mass (Da):149,691
Last modified:January 9, 2007 - v4
Checksum:i3A8966E6864B8576
GO
Isoform 1 (identifier: Q9UM54-1) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1037-1045: Missing.

Show »
Length:1,285
Mass (Da):148,714
Checksum:iBCB4FDFE920712CD
GO
Isoform 2 (identifier: Q9UM54-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1037-1068: Missing.

Show »
Length:1,262
Mass (Da):146,048
Checksum:iCF1FA35796FC1C60
GO
Isoform 4 (identifier: Q9UM54-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1147-1155: Missing.

Show »
Length:1,285
Mass (Da):148,685
Checksum:iF68A79F74AB9170C
GO
Isoform 5 (identifier: Q9UM54-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1037-1068: Missing.
     1147-1155: Missing.

Show »
Length:1,253
Mass (Da):145,042
Checksum:iDD739BA2DD557EEF
GO
Isoform 6 (identifier: Q9UM54-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1147-1156: DFAPFLNNSP → A

Show »
Length:1,285
Mass (Da):148,659
Checksum:iEAE6008E2FAC170C
GO

Sequence cautioni

The sequence BAA20843.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti216 – 2161E → V in DFNB37. 1 Publication
Corresponds to variant rs28936390 [ dbSNP | Ensembl ].
VAR_016209
Natural varianti246 – 2461H → R in DFNHCM. 1 Publication
Corresponds to variant rs28936391 [ dbSNP | Ensembl ].
VAR_029988
Natural varianti442 – 4421C → Y in DFNA22. 1 Publication
VAR_012110

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1037 – 106832Missing in isoform 2 and isoform 5.
VSP_007985Add
BLAST
Alternative sequencei1037 – 10459Missing in isoform 1.
VSP_022332
Alternative sequencei1147 – 115610DFAPFLNNSP → A in isoform 6.
VSP_042208
Alternative sequencei1147 – 11559Missing in isoform 4 and isoform 5.
VSP_022333

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1156 – 11561P → A in CAI42826. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U90236 mRNA. Translation: AAC51654.2.
AF229111
, AF229082, AF229083, AF229084, AF229085, AF229086, AF229087, AF229088, AF229089, AF229090, AF229091, AF229092, AF229093, AF229094, AF229095, AF229096, AF229097, AF229098, AF229099, AF229100, AF229101, AF229102, AF229103, AF229104, AF229105, AF229106, AF229107, AF229108, AF229109, AF229110 Genomic DNA. Translation: AAK00229.1.
AL109897, AL136093 Genomic DNA. Translation: CAI19520.1.
AL109897, AL136093 Genomic DNA. Translation: CAI19521.1.
AL109897, AL136093 Genomic DNA. Translation: CAI19522.1.
AL136093, AL109897 Genomic DNA. Translation: CAI42824.1.
AL136093, AL109897 Genomic DNA. Translation: CAI42825.1.
AL136093, AL109897 Genomic DNA. Translation: CAI42826.1.
AB002387 mRNA. Translation: BAA20843.2. Different initiation.
CH471051 Genomic DNA. Translation: EAW48730.1.
CH471051 Genomic DNA. Translation: EAW48731.1.
BC146764 mRNA. Translation: AAI46765.1.
BP333853 mRNA. No translation available.
CCDSiCCDS34487.1. [Q9UM54-1]
RefSeqiNP_004990.3. NM_004999.3. [Q9UM54-1]
XP_005248782.1. XM_005248725.1. [Q9UM54-2]
UniGeneiHs.149387.

Genome annotation databases

EnsembliENST00000369977; ENSP00000358994; ENSG00000196586. [Q9UM54-1]
ENST00000369985; ENSP00000359002; ENSG00000196586. [Q9UM54-2]
GeneIDi4646.
KEGGihsa:4646.
UCSCiuc003pig.1. human. [Q9UM54-5]
uc003pih.1. human. [Q9UM54-1]
uc003pii.1. human. [Q9UM54-2]

Polymorphism databases

DMDMi122065628.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U90236 mRNA. Translation: AAC51654.2 .
AF229111
, AF229082 , AF229083 , AF229084 , AF229085 , AF229086 , AF229087 , AF229088 , AF229089 , AF229090 , AF229091 , AF229092 , AF229093 , AF229094 , AF229095 , AF229096 , AF229097 , AF229098 , AF229099 , AF229100 , AF229101 , AF229102 , AF229103 , AF229104 , AF229105 , AF229106 , AF229107 , AF229108 , AF229109 , AF229110 Genomic DNA. Translation: AAK00229.1 .
AL109897 , AL136093 Genomic DNA. Translation: CAI19520.1 .
AL109897 , AL136093 Genomic DNA. Translation: CAI19521.1 .
AL109897 , AL136093 Genomic DNA. Translation: CAI19522.1 .
AL136093 , AL109897 Genomic DNA. Translation: CAI42824.1 .
AL136093 , AL109897 Genomic DNA. Translation: CAI42825.1 .
AL136093 , AL109897 Genomic DNA. Translation: CAI42826.1 .
AB002387 mRNA. Translation: BAA20843.2 . Different initiation.
CH471051 Genomic DNA. Translation: EAW48730.1 .
CH471051 Genomic DNA. Translation: EAW48731.1 .
BC146764 mRNA. Translation: AAI46765.1 .
BP333853 mRNA. No translation available.
CCDSi CCDS34487.1. [Q9UM54-1 ]
RefSeqi NP_004990.3. NM_004999.3. [Q9UM54-1 ]
XP_005248782.1. XM_005248725.1. [Q9UM54-2 ]
UniGenei Hs.149387.

3D structure databases

ProteinModelPortali Q9UM54.
SMRi Q9UM54. Positions 2-922, 1175-1277.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110730. 29 interactions.
DIPi DIP-33123N.
IntActi Q9UM54. 15 interactions.
MINTi MINT-239443.
STRINGi 9606.ENSP00000358994.

PTM databases

PhosphoSitei Q9UM54.

Polymorphism databases

DMDMi 122065628.

Proteomic databases

MaxQBi Q9UM54.
PaxDbi Q9UM54.
PRIDEi Q9UM54.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369977 ; ENSP00000358994 ; ENSG00000196586 . [Q9UM54-1 ]
ENST00000369985 ; ENSP00000359002 ; ENSG00000196586 . [Q9UM54-2 ]
GeneIDi 4646.
KEGGi hsa:4646.
UCSCi uc003pig.1. human. [Q9UM54-5 ]
uc003pih.1. human. [Q9UM54-1 ]
uc003pii.1. human. [Q9UM54-2 ]

Organism-specific databases

CTDi 4646.
GeneCardsi GC06P076515.
GeneReviewsi MYO6.
HGNCi HGNC:7605. MYO6.
HPAi CAB010762.
MIMi 600970. gene.
606346. phenotype.
607821. phenotype.
neXtProti NX_Q9UM54.
Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
228012. Progressive sensorineural hearing loss - hypertrophic cardiomyopathy.
PharmGKBi PA31410.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5022.
HOVERGENi HBG003523.
InParanoidi Q9UM54.
KOi K10358.
OrthoDBi EOG7TQTZZ.
PhylomeDBi Q9UM54.
TreeFami TF351449.

Enzyme and pathway databases

Reactomei REACT_11035. Gap junction degradation.
REACT_18307. Trafficking of AMPA receptors.

Miscellaneous databases

ChiTaRSi MYO6. human.
GeneWikii MYO6.
GenomeRNAii 4646.
NextBioi 17908.
PROi Q9UM54.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UM54.
Bgeei Q9UM54.
CleanExi HS_MYO6.
Genevestigatori Q9UM54.

Family and domain databases

InterProi IPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR027417. P-loop_NTPase.
[Graphical view ]
Pfami PF00063. Myosin_head. 1 hit.
[Graphical view ]
PRINTSi PR00193. MYOSINHEAVY.
SMARTi SM00015. IQ. 1 hit.
SM00242. MYSc. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
PROSITEi PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice."
    Avraham K.B., Hasson T., Sobe T., Balsara B., Testa J.R., Skvorak A.B., Morton C.C., Copeland N.G., Jenkins N.A.
    Hum. Mol. Genet. 6:1225-1231(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
    Tissue: Brain.
  2. Avraham K.B.
    Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  3. "Genomic organization of the human myosin VI gene (MYO6), a candidate gene for neurosensory and storage disorders."
    Kuehn M.H., Hageman G.S.
    Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  5. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORMS 1; 2 AND 5).
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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 1).
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1102-1294 (ISOFORM 6).
    Tissue: Salivary gland.
  9. Cited for: FUNCTION.
  10. "Myosin VI isoform localized to clathrin-coated vesicles with a role in clathrin-mediated endocytosis."
    Buss F., Arden S.D., Lindsay M., Luzio J.P., Kendrick-Jones J.
    EMBO J. 20:3676-3684(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN ENDOCYTOSIS, SUBCELLULAR LOCATION, ALTERNATIVE SPLICING.
  11. "Myosin VI binds to and localises with Dab2, potentially linking receptor-mediated endocytosis and the actin cytoskeleton."
    Morris S.M., Arden S.D., Roberts R.C., Kendrick-Jones J., Cooper J.A., Luzio J.P., Buss F.
    Traffic 3:331-341(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DAB2.
  12. "Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator."
    Swiatecka-Urban A., Boyd C., Coutermarsh B., Karlson K.H., Barnaby R., Aschenbrenner L., Langford G.M., Hasson T., Stanton B.A.
    J. Biol. Chem. 279:38025-38031(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CFTR.
  13. Cited for: SUBUNIT.
  14. "Nuclear myosin VI enhances RNA polymerase II-dependent transcription."
    Vreugde S., Ferrai C., Miluzio A., Hauben E., Marchisio P.C., Crippa M.P., Bussi M., Biffo S.
    Mol. Cell 23:749-755(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  15. "Myosin VI is a mediator of the p53-dependent cell survival pathway."
    Jung E.J., Liu G., Zhou W., Chen X.
    Mol. Cell. Biol. 26:2175-2186(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  16. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  17. "MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss."
    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.
    Am. J. Hum. Genet. 69:635-640(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA22 TYR-442.
  18. Cited for: VARIANT DFNB37 VAL-216.
  19. "Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6)."
    Mohiddin S.A., Ahmed Z.M., Griffith A.J., Tripodi D., Friedman T.B., Fananapazir L., Morell R.J.
    J. Med. Genet. 41:309-314(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNHCM ARG-246.

Entry informationi

Entry nameiMYO6_HUMAN
AccessioniPrimary (citable) accession number: Q9UM54
Secondary accession number(s): A6H8V4
, E1P540, Q5TEM5, Q5TEM6, Q5TEM7, Q9BZZ7, Q9UEG2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: January 9, 2007
Last modified: September 3, 2014
This is version 147 of the entry and version 4 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

Caution

Represents an unconventional myosin. This protein should not be confused with the conventional myosin-6 (MYH6).

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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