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Q9Y4I1

- MYO5A_HUMAN

UniProt

Q9Y4I1 - MYO5A_HUMAN

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Protein
Unconventional myosin-Va
Gene
MYO5A, MYH12
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi163 – 1708ATP Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. calcium ion binding Source: Ensembl
  3. microfilament motor activity Source: UniProtKB
  4. poly(A) RNA binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. actin filament-based movement Source: UniProtKB
  2. anagen Source: Ensembl
  3. cellular protein metabolic process Source: Reactome
  4. cellular response to insulin stimulus Source: UniProtKB
  5. endoplasmic reticulum localization Source: Ensembl
  6. exocytosis Source: Ensembl
  7. insulin secretion Source: Ensembl
  8. locomotion involved in locomotory behavior Source: Ensembl
  9. long-chain fatty acid biosynthetic process Source: Ensembl
  10. melanin biosynthetic process Source: Ensembl
  11. melanocyte differentiation Source: Ensembl
  12. melanosome transport Source: Ensembl
  13. membrane organization Source: Reactome
  14. myelination Source: Ensembl
  15. odontogenesis Source: Ensembl
  16. protein localization to plasma membrane Source: UniProtKB
  17. protein transport Source: UniProtKB-KW
  18. regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Source: Ensembl
  19. secretory granule localization Source: Ensembl
  20. synapse organization Source: Ensembl
  21. synaptic transmission Source: Ensembl
  22. transport Source: UniProtKB
  23. vesicle-mediated transport Source: UniProtKB
  24. visual perception Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Myosin

Keywords - Biological processi

Protein transport, Transport

Keywords - Ligandi

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

Enzyme and pathway databases

ReactomeiREACT_147867. Translocation of GLUT4 to the plasma membrane.
REACT_15550. Insulin processing.
REACT_160086. Regulation of actin dynamics for phagocytic cup formation.

Names & Taxonomyi

Protein namesi
Recommended name:
Unconventional myosin-Va
Alternative name(s):
Dilute myosin heavy chain, non-muscle
Myosin heavy chain 12
Myosin-12
Myoxin
Gene namesi
Name:MYO5A
Synonyms:MYH12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:7602. MYO5A.

Subcellular locationi

GO - Cellular componenti

  1. Golgi apparatus Source: Ensembl
  2. actomyosin Source: Ensembl
  3. cytoplasm Source: UniProtKB
  4. growth cone Source: UniProtKB
  5. insulin-responsive compartment Source: UniProtKB
  6. intermediate filament Source: Ensembl
  7. melanosome Source: Ensembl
  8. microtubule plus-end Source: Ensembl
  9. myosin complex Source: UniProtKB-KW
  10. neuron projection Source: UniProtKB
  11. neuronal cell body Source: Ensembl
  12. photoreceptor outer segment Source: Ensembl
  13. ruffle Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Griscelli syndrome 1 (GS1) [MIM:214450]: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mental retardation, without apparent immune abnormalities.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Griscelli syndrome 3 (GS3) [MIM:609227]: Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Elejalde syndrome (ELEJAS) [MIM:256710]: Autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Organism-specific databases

MIMi214450. phenotype.
256710. phenotype.
609227. phenotype.
Orphaneti79476. Griscelli disease type 1.
79478. Griscelli disease type 3.
33445. Neuroectodermal melanolysosomal disease.
PharmGKBiPA31407.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 18551854Unconventional myosin-Va
PRO_0000123456Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication
Modified residuei600 – 6001Phosphoserine By similarity
Modified residuei1032 – 10321Phosphothreonine By similarity
Modified residuei1452 – 14521Phosphoserine1 Publication
Modified residuei1760 – 17601Phosphothreonine Reviewed prediction

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ9Y4I1.
PaxDbiQ9Y4I1.
PRIDEiQ9Y4I1.

PTM databases

PhosphoSiteiQ9Y4I1.

Expressioni

Tissue specificityi

Detected in melanocytes.

Gene expression databases

ArrayExpressiQ9Y4I1.
BgeeiQ9Y4I1.
CleanExiHS_MYO5A.
GenevestigatoriQ9Y4I1.

Organism-specific databases

HPAiHPA001356.

Interactioni

Subunit structurei

May be a homodimer, which associates with multiple calmodulin or myosin light chains. Interacts with SYTL4, MLPH and MYRIP. Interacts with RIPL2, the interaction is required for its role in dendrite formation By similarity. Interacts with RAB10; mediates the transport to the plasma membrane of SLC2A4/GLUT4 storage vesicles.2 Publications

Protein-protein interaction databases

BioGridi110728. 18 interactions.
IntActiQ9Y4I1. 4 interactions.
MINTiMINT-3388025.
STRINGi9606.ENSP00000382177.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi1475 – 14784
Helixi1481 – 14833
Helixi1484 – 14918
Turni1492 – 14943
Helixi1500 – 15023
Turni1505 – 15073
Helixi1508 – 152215
Helixi1526 – 154722
Helixi1551 – 157020
Helixi1575 – 15773
Helixi1583 – 15864
Beta strandi1591 – 15944
Helixi1596 – 162126
Helixi1622 – 16243
Helixi1625 – 16295
Helixi1661 – 167717
Helixi1682 – 170625
Beta strandi1708 – 17103
Helixi1713 – 173220
Helixi1740 – 17434
Helixi1745 – 175511
Helixi1761 – 177010
Helixi1776 – 178510
Turni1790 – 17923
Helixi1798 – 180710
Turni1808 – 18103
Helixi1838 – 18403
Helixi1845 – 18473
Beta strandi1852 – 18554

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4J5LX-ray2.20A/B1448-1855[»]
4LLIX-ray2.20A/B1467-1855[»]
4LX1X-ray1.87A/B1464-1855[»]
4LX2X-ray1.50A1464-1855[»]
ProteinModelPortaliQ9Y4I1.
SMRiQ9Y4I1. Positions 2-819, 860-900, 1473-1855.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini69 – 763695Myosin motor
Add
BLAST
Domaini766 – 78823IQ 1
Add
BLAST
Domaini789 – 81830IQ 2
Add
BLAST
Domaini814 – 83623IQ 3
Add
BLAST
Domaini837 – 86125IQ 4
Add
BLAST
Domaini862 – 88322IQ 5
Add
BLAST
Domaini885 – 91430IQ 6
Add
BLAST
Domaini1534 – 1810277Dilute
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni643 – 66523Actin-binding Reviewed prediction
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili914 – 1237324 Reviewed prediction
Add
BLAST
Coiled coili1338 – 1445108 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Contains 1 dilute domain.
Contains 6 IQ domains.

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiCOG5022.
HOVERGENiHBG052556.
KOiK10357.
OrthoDBiEOG7PK8XT.
PhylomeDBiQ9Y4I1.
TreeFamiTF328771.

Family and domain databases

InterProiIPR018444. Dil_domain.
IPR002710. Dilute.
IPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF01843. DIL. 1 hit.
PF00612. IQ. 6 hits.
PF00063. Myosin_head. 1 hit.
[Graphical view]
PRINTSiPR00193. MYOSINHEAVY.
SMARTiSM00015. IQ. 6 hits.
SM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 3 hits.
PROSITEiPS51126. DILUTE. 1 hit.
PS50096. IQ. 6 hits.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y4I1-1) [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

MAASELYTKF ARVWIPDPEE VWKSAELLKD YKPGDKVLLL HLEEGKDLEY     50
HLDPKTKELP HLRNPDILVG ENDLTALSYL HEPAVLHNLR VRFIDSKLIY 100
TYCGIVLVAI NPYEQLPIYG EDIINAYSGQ NMGDMDPHIF AVAEEAYKQM 150
ARDERNQSII VSGESGAGKT VSAKYAMRYF ATVSGSASEA NVEEKVLASN 200
PIMESIGNAK TTRNDNSSRF GKYIEIGFDK RYRIIGANMR TYLLEKSRVV 250
FQAEEERNYH IFYQLCASAK LPEFKMLRLG NADNFNYTKQ GGSPVIEGVD 300
DAKEMAHTRQ ACTLLGISES HQMGIFRILA GILHLGNVGF TSRDADSCTI 350
PPKHEPLCIF CELMGVDYEE MCHWLCHRKL ATATETYIKP ISKLQATNAR 400
DALAKHIYAK LFNWIVDNVN QALHSAVKQH SFIGVLDIYG FETFEINSFE 450
QFCINYANEK LQQQFNMHVF KLEQEEYMKE QIPWTLIDFY DNQPCINLIE 500
SKLGILDLLD EECKMPKGTD DTWAQKLYNT HLNKCALFEK PRLSNKAFII 550
QHFADKVEYQ CEGFLEKNKD TVFEEQIKVL KSSKFKMLPE LFQDDEKAIS 600
PTSATSSGRT PLTRTPAKPT KGRPGQMAKE HKKTVGHQFR NSLHLLMETL 650
NATTPHYVRC IKPNDFKFPF TFDEKRAVQQ LRACGVLETI RISAAGFPSR 700
WTYQEFFSRY RVLMKQKDVL SDRKQTCKNV LEKLILDKDK YQFGKTKIFF 750
RAGQVAYLEK LRADKLRAAC IRIQKTIRGW LLRKKYLRMR KAAITMQRYV 800
RGYQARCYAK FLRRTKAATI IQKYWRMYVV RRRYKIRRAA TIVLQSYLRG 850
FLARNRYRKI LREHKAVIIQ KRVRGWLART HYKRSMHAII YLQCCFRRMM 900
AKRELKKLKI EARSVERYKK LHIGMENKIM QLQRKVDEQN KDYKCLVEKL 950
TNLEGIYNSE TEKLRSDLER LQLSEEEAKV ATGRVLSLQE EIAKLRKDLE 1000
QTRSEKKCIE EHADRYKQET EQLVSNLKEE NTLLKQEKEA LNHRIVQQAK 1050
EMTETMEKKL VEETKQLELD LNDERLRYQN LLNEFSRLEE RYDDLKEEMT 1100
LMVHVPKPGH KRTDSTHSSN ESEYIFSSEI AEMEDIPSRT EEPSEKKVPL 1150
DMSLFLKLQK RVTELEQEKQ VMQDELDRKE EQVLRSKAKE EERPQIRGAE 1200
LEYESLKRQE LESENKKLKN ELNELRKALS EKSAPEVTAP GAPAYRVLME 1250
QLTSVSEELD VRKEEVLILR SQLVSQKEAI QPKDDKNTMT DSTILLEDVQ 1300
KMKDKGEIAQ AYIGLKETNR SSALDYHELN EDGELWLVYE GLKQANRLLE 1350
SQLQSQKRSH ENEAEALRGE IQSLKEENNR QQQLLAQNLQ LPPEARIEAS 1400
LQHEITRLTN ENLDLMEQLE KQDKTVRKLK KQLKVFAKKI GELEVGQMEN 1450
ISPGQIIDEP IRPVNIPRKE KDFQGMLEYK KEDEQKLVKN LILELKPRGV 1500
AVNLIPGLPA YILFMCVRHA DYLNDDQKVR SLLTSTINSI KKVLKKRGDD 1550
FETVSFWLSN TCRFLHCLKQ YSGEEGFMKH NTSRQNEHCL TNFDLAEYRQ 1600
VLSDLAIQIY QQLVRVLENI LQPMIVSGML EHETIQGVSG VKPTGLRKRT 1650
SSIADEGTYT LDSILRQLNS FHSVMCQHGM DPELIKQVVK QMFYIIGAIT 1700
LNNLLLRKDM CSWSKGMQIR YNVSQLEEWL RDKNLMNSGA KETLEPLIQA 1750
AQLLQVKKKT DDDAEAICSM CNALTTAQIV KVLNLYTPVN EFEERVSVSF 1800
IRTIQMRLRD RKDSPQLLMD AKHIFPVTFP FNPSSLALET IQIPASLGLG 1850
FISRV 1855
Length:1,855
Mass (Da):215,405
Last modified:May 18, 2010 - v2
Checksum:i78FD3B1D08D90A0A
GO
Isoform 2 (identifier: Q9Y4I1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1321-1347: Missing.

Show »
Length:1,828
Mass (Da):212,273
Checksum:i6C1F609CE0FAC368
GO
Isoform 3 (identifier: Q9Y4I1-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1413-1413: L → LYFEELYADDPKKYQSYRISLYKRMI

Show »
Length:1,880
Mass (Da):218,608
Checksum:i86CCDF8124408640
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti627 – 6271M → T.
Corresponds to variant rs16964944 [ dbSNP | Ensembl ].
VAR_056180
Natural varianti1246 – 12461R → C.2 Publications
Corresponds to variant rs1058219 [ dbSNP | Ensembl ].
VAR_010645
Natural varianti1673 – 16731S → L.
Corresponds to variant rs9282796 [ dbSNP | Ensembl ].
VAR_056181

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1321 – 134727Missing in isoform 2.
VSP_003351Add
BLAST
Alternative sequencei1413 – 14131L → LYFEELYADDPKKYQSYRIS LYKRMI in isoform 3.
VSP_003352

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti198 – 1981A → T in CAA69035. 1 Publication
Sequence conflicti198 – 1981A → T in CAA69036. 1 Publication
Sequence conflicti198 – 1981A → T in AAD00702. 1 Publication
Sequence conflicti362 – 3621E → D in CAA69035. 1 Publication
Sequence conflicti362 – 3621E → D in CAA69036. 1 Publication
Sequence conflicti362 – 3621E → D in AAD00702. 1 Publication
Sequence conflicti668 – 6681F → L in CAA69035. 1 Publication
Sequence conflicti668 – 6681F → L in CAA69036. 1 Publication
Sequence conflicti833 – 8331Missing in CAA80533. 1 Publication
Sequence conflicti863 – 8631E → G in CAA69035. 1 Publication
Sequence conflicti863 – 8631E → G in CAA69036. 1 Publication
Sequence conflicti922 – 9221H → R in CAA69035. 1 Publication
Sequence conflicti922 – 9221H → R in CAA69036. 1 Publication
Sequence conflicti1061 – 10611V → L in AAB33211. 1 Publication
Sequence conflicti1089 – 10891E → Q in CAA80533. 1 Publication
Sequence conflicti1177 – 11771D → E in AAB33211. 1 Publication
Sequence conflicti1465 – 147713NIPRK…FQGML → SVLCACCVSVTVR in CAA80533. 1 Publication
Add
BLAST
Sequence conflicti1471 – 14711K → N in AAB33211. 1 Publication
Sequence conflicti1484 – 14841E → D in AAB33211. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y07759 mRNA. Translation: CAA69035.1.
Y07759 mRNA. Translation: CAA69036.1.
U90942 mRNA. Translation: AAD00702.1.
AC010674 Genomic DNA. No translation available.
AC018902 Genomic DNA. No translation available.
AC025917 Genomic DNA. No translation available.
Z22957 mRNA. Translation: CAA80533.1.
S74799 mRNA. Translation: AAB33211.1.
AF055459 mRNA. Translation: AAC14188.1.
CCDSiCCDS42037.1. [Q9Y4I1-1]
CCDS45262.1. [Q9Y4I1-2]
PIRiA53016.
A59254.
B59254.
I52966.
RefSeqiNP_000250.3. NM_000259.3.
XP_005254454.1. XM_005254397.2. [Q9Y4I1-3]
UniGeneiHs.21213.
Hs.596221.

Genome annotation databases

EnsembliENST00000356338; ENSP00000348693; ENSG00000197535. [Q9Y4I1-2]
ENST00000399231; ENSP00000382177; ENSG00000197535. [Q9Y4I1-1]
GeneIDi4644.
KEGGihsa:4644.
UCSCiuc002aby.2. human. [Q9Y4I1-1]
uc010uge.1. human. [Q9Y4I1-2]

Polymorphism databases

DMDMi296439234.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

MYO5Abase

MYO5A mutation db

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y07759 mRNA. Translation: CAA69035.1 .
Y07759 mRNA. Translation: CAA69036.1 .
U90942 mRNA. Translation: AAD00702.1 .
AC010674 Genomic DNA. No translation available.
AC018902 Genomic DNA. No translation available.
AC025917 Genomic DNA. No translation available.
Z22957 mRNA. Translation: CAA80533.1 .
S74799 mRNA. Translation: AAB33211.1 .
AF055459 mRNA. Translation: AAC14188.1 .
CCDSi CCDS42037.1. [Q9Y4I1-1 ]
CCDS45262.1. [Q9Y4I1-2 ]
PIRi A53016.
A59254.
B59254.
I52966.
RefSeqi NP_000250.3. NM_000259.3.
XP_005254454.1. XM_005254397.2. [Q9Y4I1-3 ]
UniGenei Hs.21213.
Hs.596221.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4J5L X-ray 2.20 A/B 1448-1855 [» ]
4LLI X-ray 2.20 A/B 1467-1855 [» ]
4LX1 X-ray 1.87 A/B 1464-1855 [» ]
4LX2 X-ray 1.50 A 1464-1855 [» ]
ProteinModelPortali Q9Y4I1.
SMRi Q9Y4I1. Positions 2-819, 860-900, 1473-1855.
ModBasei Search...

Protein-protein interaction databases

BioGridi 110728. 18 interactions.
IntActi Q9Y4I1. 4 interactions.
MINTi MINT-3388025.
STRINGi 9606.ENSP00000382177.

PTM databases

PhosphoSitei Q9Y4I1.

Polymorphism databases

DMDMi 296439234.

Proteomic databases

MaxQBi Q9Y4I1.
PaxDbi Q9Y4I1.
PRIDEi Q9Y4I1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000356338 ; ENSP00000348693 ; ENSG00000197535 . [Q9Y4I1-2 ]
ENST00000399231 ; ENSP00000382177 ; ENSG00000197535 . [Q9Y4I1-1 ]
GeneIDi 4644.
KEGGi hsa:4644.
UCSCi uc002aby.2. human. [Q9Y4I1-1 ]
uc010uge.1. human. [Q9Y4I1-2 ]

Organism-specific databases

CTDi 4644.
GeneCardsi GC15M052599.
HGNCi HGNC:7602. MYO5A.
HPAi HPA001356.
MIMi 160777. gene.
214450. phenotype.
256710. phenotype.
609227. phenotype.
neXtProti NX_Q9Y4I1.
Orphaneti 79476. Griscelli disease type 1.
79478. Griscelli disease type 3.
33445. Neuroectodermal melanolysosomal disease.
PharmGKBi PA31407.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5022.
HOVERGENi HBG052556.
KOi K10357.
OrthoDBi EOG7PK8XT.
PhylomeDBi Q9Y4I1.
TreeFami TF328771.

Enzyme and pathway databases

Reactomei REACT_147867. Translocation of GLUT4 to the plasma membrane.
REACT_15550. Insulin processing.
REACT_160086. Regulation of actin dynamics for phagocytic cup formation.

Miscellaneous databases

ChiTaRSi MYO5A. human.
GeneWikii MYO5A.
GenomeRNAii 4644.
NextBioi 17896.
PROi Q9Y4I1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9Y4I1.
Bgeei Q9Y4I1.
CleanExi HS_MYO5A.
Genevestigatori Q9Y4I1.

Family and domain databases

InterProi IPR018444. Dil_domain.
IPR002710. Dilute.
IPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR027417. P-loop_NTPase.
[Graphical view ]
Pfami PF01843. DIL. 1 hit.
PF00612. IQ. 6 hits.
PF00063. Myosin_head. 1 hit.
[Graphical view ]
PRINTSi PR00193. MYOSINHEAVY.
SMARTi SM00015. IQ. 6 hits.
SM00242. MYSc. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 3 hits.
PROSITEi PS51126. DILUTE. 1 hit.
PS50096. IQ. 6 hits.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The complete cDNA for human myosin heavy chain 12, a class V myosin."
    Meurers B.H., Zimmermann R., Vosberg H.P.
    Submitted (SEP-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    Tissue: Skin.
  2. "Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene."
    Pastural E., Barrat F.J., Dufourcq-Lagelouse R., Certain S., Sanal O., Jabado N., Seger R., Griscelli C., Fischer A., de Saint Basile G.
    Nat. Genet. 16:289-292(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT CYS-1246.
  3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene."
    Engle L.J., Kennett R.H.
    Genomics 19:407-416(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 638-1477 (ISOFORM 2).
    Tissue: Fetal brain.
  5. "Cloning and regional assignment of the human myosin heavy chain 12 (MYH12) gene to chromosome band 15q21."
    Moore K.J., Testa J.R., Francke U., Milatovich A., Copeland N.G., Jenkins N.A.
    Cytogenet. Cell Genet. 69:53-58(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1061-1498 (ISOFORM 2).
    Tissue: Brain.
  6. "Inhibition of dendrite formation in melanocytes transiently transfected with antisense DNA to myosin V."
    Edgar A.J., Bennett J.P.
    Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1358-1460 (ISOFORM 3).
  7. Cited for: FUNCTION.
  8. "Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions."
    Nagashima K., Torii S., Yi Z., Igarashi M., Okamoto K., Takeuchi T., Izumi T.
    FEBS Lett. 517:233-238(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MLPH.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1452, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "Rab10 and myosin-Va mediate insulin-stimulated GLUT4 storage vesicle translocation in adipocytes."
    Chen Y., Wang Y., Zhang J., Deng Y., Jiang L., Song E., Wu X.S., Hammer J.A., Xu T., Lippincott-Schwartz J.
    J. Cell Biol. 198:545-560(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RAB10.
  15. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  16. "Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome."
    Lambert J., Naeyaert J.-M., De Paepe A., Van Coster R., Ferster A., Song M., Messiaen L.
    J. Invest. Dermatol. 114:731-733(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CYS-1246.
  17. Cited for: INVOLVEMENT IN GS1.
  18. "Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A."
    Anikster Y., Huizing M., Anderson P.D., Fitzpatrick D.L., Klar A., Gross-Kieselstein E., Berkun Y., Shazberg G., Gahl W.A., Hurvitz H.
    Am. J. Hum. Genet. 71:407-414(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN ELEJAS.
  19. "Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)."
    Menasche G., Ho C.H., Sanal O., Feldmann J., Tezcan I., Ersoy F., Houdusse A., Fischer A., de Saint Basile G.
    J. Clin. Invest. 112:450-456(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN GS3.

Entry informationi

Entry nameiMYO5A_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4I1
Secondary accession number(s): A8MZC5
, O60653, Q07902, Q16249, Q9UE30, Q9UE31
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 18, 2010
Last modified: September 3, 2014
This is version 141 of the entry and version 2 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 15
    Human chromosome 15: 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

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