Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q9Y4I1 (MYO5A_HUMAN)

Protein

Unconventional myosin-Va

Gene

MYO5A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
Nucleotide bindingi163 – 170ATPSequence analysis8

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActin-binding, Calmodulin-binding, Motor protein, Myosin
Biological processProtein transport, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-1445148 Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-264876 Insulin processing

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000197535.14
HGNCiHGNC:7602 MYO5A
MIMi160777 gene
neXtProtiNX_Q9Y4I1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Griscelli syndrome 1 (GS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare 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.
See also OMIM:214450
Griscelli syndrome 3 (GS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare 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.
See also OMIM:609227
Elejalde syndrome (ELEJAS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
See also OMIM:256710

Organism-specific databases

DisGeNETi4644
MalaCardsiMYO5A
MIMi214450 phenotype
256710 phenotype
609227 phenotype
OpenTargetsiENSG00000197535
Orphaneti79476 Griscelli disease type 1
79478 Griscelli disease type 3
33445 Neuroectodermal melanolysosomal disease
PharmGKBiPA31407

Polymorphism and mutation databases

BioMutaiMYO5A
DMDMi296439234

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001234562 – 1855Unconventional myosin-VaAdd BLAST1854

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei600PhosphoserineCombined sources1
Modified residuei1032PhosphothreonineBy similarity1
Modified residuei1452PhosphoserineCombined sources1
Modified residuei1652PhosphoserineCombined sources1
Modified residuei1760PhosphothreonineSequence analysis1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9Y4I1
PaxDbiQ9Y4I1
PeptideAtlasiQ9Y4I1
PRIDEiQ9Y4I1
ProteomicsDBi86207
86208 [Q9Y4I1-2]
86209 [Q9Y4I1-3]

PTM databases

CarbonylDBiQ9Y4I1
iPTMnetiQ9Y4I1
PhosphoSitePlusiQ9Y4I1
SwissPalmiQ9Y4I1

Expressioni

Tissue specificityi

Detected in melanocytes.

Gene expression databases

BgeeiENSG00000197535 Expressed in 224 organ(s), highest expression level in dorsolateral prefrontal cortex
CleanExiHS_MYO5A
ExpressionAtlasiQ9Y4I1 baseline and differential
GenevisibleiQ9Y4I1 HS

Organism-specific databases

HPAiHPA001356

Interactioni

Subunit structurei

May be a homodimer, which associates with multiple calmodulin or myosin light chains (By similarity). Interacts with RIPL2, the interaction is required for its role in dendrite formation (By similarity). Interacts with MLPH (PubMed:12062444). Interacts with SYTL4 (By similarity). Interacts with MYRIP (By similarity). Interacts with RAB10; mediates the transport to the plasma membrane of SLC2A4/GLUT4 storage vesicles (PubMed:22908308). Interacts with FMR1; this interaction occurs in association with polyribosome (By similarity).By similarity2 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi110728, 81 interactors
IntActiQ9Y4I1, 32 interactors
MINTiQ9Y4I1
STRINGi9606.ENSP00000382177

Structurei

Secondary structure

11855
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9Y4I1
SMRiQ9Y4I1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini8 – 60Myosin N-terminal SH3-likePROSITE-ProRule annotationAdd BLAST53
Domaini69 – 763Myosin motorPROSITE-ProRule annotationAdd BLAST695
Domaini766 – 788IQ 1PROSITE-ProRule annotationAdd BLAST23
Domaini789 – 818IQ 2PROSITE-ProRule annotationAdd BLAST30
Domaini814 – 836IQ 3PROSITE-ProRule annotationAdd BLAST23
Domaini837 – 861IQ 4PROSITE-ProRule annotationAdd BLAST25
Domaini862 – 883IQ 5PROSITE-ProRule annotationAdd BLAST22
Domaini885 – 914IQ 6PROSITE-ProRule annotationAdd BLAST30
Domaini1534 – 1810DilutePROSITE-ProRule annotationAdd BLAST277

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni643 – 665Actin-bindingSequence analysisAdd BLAST23

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili914 – 1237Sequence analysisAdd BLAST324
Coiled coili1338 – 1445Sequence analysisAdd BLAST108

Sequence similaritiesi

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0160 Eukaryota
KOG0161 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00900000140810
HOVERGENiHBG052556
InParanoidiQ9Y4I1
KOiK10357
OMAiWRMYVVR
PhylomeDBiQ9Y4I1
TreeFamiTF328771

Family and domain databases

CDDicd15478 Myo5a_CBD, 1 hit
cd01380 MYSc_Myo5, 1 hit
Gene3Di2.30.30.360, 1 hit
3.40.850.10, 3 hits
InterProiView protein in InterPro
IPR002710 Dilute_dom
IPR000048 IQ_motif_EF-hand-BS
IPR036961 Kinesin_motor_dom_sf
IPR037988 Myo5a_CBD
IPR001609 Myosin_head_motor_dom
IPR004009 Myosin_N
IPR008989 Myosin_S1_N
IPR036103 MYSc_Myo5
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF01843 DIL, 1 hit
PF00612 IQ, 6 hits
PF00063 Myosin_head, 1 hit
PRINTSiPR00193 MYOSINHEAVY
SMARTiView protein in SMART
SM01132 DIL, 1 hit
SM00015 IQ, 6 hits
SM00242 MYSc, 1 hit
SUPFAMiSSF52540 SSF52540, 3 hits
PROSITEiView protein in PROSITE
PS51126 DILUTE, 1 hit
PS50096 IQ, 6 hits
PS51456 MYOSIN_MOTOR, 1 hit
PS51844 SH3_LIKE, 1 hit

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. AlignAdd to basket

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.iShow all

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
        10         20         30         40         50
MAASELYTKF ARVWIPDPEE VWKSAELLKD YKPGDKVLLL HLEEGKDLEY 
        60         70         80         90        100
HLDPKTKELP HLRNPDILVG ENDLTALSYL HEPAVLHNLR VRFIDSKLIY 
       110        120        130        140        150
TYCGIVLVAI NPYEQLPIYG EDIINAYSGQ NMGDMDPHIF AVAEEAYKQM 
       160        170        180        190        200
ARDERNQSII VSGESGAGKT VSAKYAMRYF ATVSGSASEA NVEEKVLASN 
       210        220        230        240        250
PIMESIGNAK TTRNDNSSRF GKYIEIGFDK RYRIIGANMR TYLLEKSRVV 
       260        270        280        290        300
FQAEEERNYH IFYQLCASAK LPEFKMLRLG NADNFNYTKQ GGSPVIEGVD 
       310        320        330        340        350
DAKEMAHTRQ ACTLLGISES HQMGIFRILA GILHLGNVGF TSRDADSCTI 
       360        370        380        390        400
PPKHEPLCIF CELMGVDYEE MCHWLCHRKL ATATETYIKP ISKLQATNAR 
       410        420        430        440        450
DALAKHIYAK LFNWIVDNVN QALHSAVKQH SFIGVLDIYG FETFEINSFE 
       460        470        480        490        500
QFCINYANEK LQQQFNMHVF KLEQEEYMKE QIPWTLIDFY DNQPCINLIE 
       510        520        530        540        550
SKLGILDLLD EECKMPKGTD DTWAQKLYNT HLNKCALFEK PRLSNKAFII 
       560        570        580        590        600
QHFADKVEYQ CEGFLEKNKD TVFEEQIKVL KSSKFKMLPE LFQDDEKAIS 
       610        620        630        640        650
PTSATSSGRT PLTRTPAKPT KGRPGQMAKE HKKTVGHQFR NSLHLLMETL 
       660        670        680        690        700
NATTPHYVRC IKPNDFKFPF TFDEKRAVQQ LRACGVLETI RISAAGFPSR 
       710        720        730        740        750
WTYQEFFSRY RVLMKQKDVL SDRKQTCKNV LEKLILDKDK YQFGKTKIFF 
       760        770        780        790        800
RAGQVAYLEK LRADKLRAAC IRIQKTIRGW LLRKKYLRMR KAAITMQRYV 
       810        820        830        840        850
RGYQARCYAK FLRRTKAATI IQKYWRMYVV RRRYKIRRAA TIVLQSYLRG 
       860        870        880        890        900
FLARNRYRKI LREHKAVIIQ KRVRGWLART HYKRSMHAII YLQCCFRRMM 
       910        920        930        940        950
AKRELKKLKI EARSVERYKK LHIGMENKIM QLQRKVDEQN KDYKCLVEKL 
       960        970        980        990       1000
TNLEGIYNSE TEKLRSDLER LQLSEEEAKV ATGRVLSLQE EIAKLRKDLE 
      1010       1020       1030       1040       1050
QTRSEKKCIE EHADRYKQET EQLVSNLKEE NTLLKQEKEA LNHRIVQQAK 
      1060       1070       1080       1090       1100
EMTETMEKKL VEETKQLELD LNDERLRYQN LLNEFSRLEE RYDDLKEEMT 
      1110       1120       1130       1140       1150
LMVHVPKPGH KRTDSTHSSN ESEYIFSSEI AEMEDIPSRT EEPSEKKVPL 
      1160       1170       1180       1190       1200
DMSLFLKLQK RVTELEQEKQ VMQDELDRKE EQVLRSKAKE EERPQIRGAE 
      1210       1220       1230       1240       1250
LEYESLKRQE LESENKKLKN ELNELRKALS EKSAPEVTAP GAPAYRVLME 
      1260       1270       1280       1290       1300
QLTSVSEELD VRKEEVLILR SQLVSQKEAI QPKDDKNTMT DSTILLEDVQ 
      1310       1320       1330       1340       1350
KMKDKGEIAQ AYIGLKETNR SSALDYHELN EDGELWLVYE GLKQANRLLE 
      1360       1370       1380       1390       1400
SQLQSQKRSH ENEAEALRGE IQSLKEENNR QQQLLAQNLQ LPPEARIEAS 
      1410       1420       1430       1440       1450
LQHEITRLTN ENLDLMEQLE KQDKTVRKLK KQLKVFAKKI GELEVGQMEN 
      1460       1470       1480       1490       1500
ISPGQIIDEP IRPVNIPRKE KDFQGMLEYK KEDEQKLVKN LILELKPRGV 
      1510       1520       1530       1540       1550
AVNLIPGLPA YILFMCVRHA DYLNDDQKVR SLLTSTINSI KKVLKKRGDD 
      1560       1570       1580       1590       1600
FETVSFWLSN TCRFLHCLKQ YSGEEGFMKH NTSRQNEHCL TNFDLAEYRQ 
      1610       1620       1630       1640       1650
VLSDLAIQIY QQLVRVLENI LQPMIVSGML EHETIQGVSG VKPTGLRKRT 
      1660       1670       1680       1690       1700
SSIADEGTYT LDSILRQLNS FHSVMCQHGM DPELIKQVVK QMFYIIGAIT 
      1710       1720       1730       1740       1750
LNNLLLRKDM CSWSKGMQIR YNVSQLEEWL RDKNLMNSGA KETLEPLIQA 
      1760       1770       1780       1790       1800
AQLLQVKKKT DDDAEAICSM CNALTTAQIV KVLNLYTPVN EFEERVSVSF 
      1810       1820       1830       1840       1850
IRTIQMRLRD RKDSPQLLMD AKHIFPVTFP FNPSSLALET IQIPASLGLG 

FISRV
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

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W6H6F8W6H6_HUMAN
Unconventional myosin-Va
MYO5A
1,855Annotation score:
G3V394G3V394_HUMAN
Unconventional myosin-Va
MYO5A
1,853Annotation score:
F8WE88F8WE88_HUMAN
Unconventional myosin-Va
MYO5A
1,855Annotation score:
A0A087WY00A0A087WY00_HUMAN
Unconventional myosin-Va
MYO5A
1,828Annotation score:
G3V3C9G3V3C9_HUMAN
Unconventional myosin-Va
MYO5A
47Annotation score:
E7ERV5E7ERV5_HUMAN
Unconventional myosin-Va
MYO5A
585Annotation score:
O95317O95317_HUMAN
Myosin V
MYO5A
231Annotation score:
Q9UES5Q9UES5_HUMAN
Myosin V
MYO5A
228Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti198A → T in CAA69035 (Ref. 1) Curated1
Sequence conflicti198A → T in CAA69036 (Ref. 1) Curated1
Sequence conflicti198A → T in AAD00702 (PubMed:9207796).Curated1
Sequence conflicti362E → D in CAA69035 (Ref. 1) Curated1
Sequence conflicti362E → D in CAA69036 (Ref. 1) Curated1
Sequence conflicti362E → D in AAD00702 (PubMed:9207796).Curated1
Sequence conflicti668F → L in CAA69035 (Ref. 1) Curated1
Sequence conflicti668F → L in CAA69036 (Ref. 1) Curated1
Sequence conflicti833Missing in CAA80533 (PubMed:8188282).Curated1
Sequence conflicti863E → G in CAA69035 (Ref. 1) Curated1
Sequence conflicti863E → G in CAA69036 (Ref. 1) Curated1
Sequence conflicti922H → R in CAA69035 (Ref. 1) Curated1
Sequence conflicti922H → R in CAA69036 (Ref. 1) Curated1
Sequence conflicti1061V → L in AAB33211 (PubMed:7835087).Curated1
Sequence conflicti1089E → Q in CAA80533 (PubMed:8188282).Curated1
Sequence conflicti1177D → E in AAB33211 (PubMed:7835087).Curated1
Sequence conflicti1465 – 1477NIPRK…FQGML → SVLCACCVSVTVR in CAA80533 (PubMed:8188282).CuratedAdd BLAST13
Sequence conflicti1471K → N in AAB33211 (PubMed:7835087).Curated1
Sequence conflicti1484E → D in AAB33211 (PubMed:7835087).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_056180627M → T. Corresponds to variant dbSNP:rs16964944EnsemblClinVar.1
Natural variantiVAR_0106451246R → C2 PublicationsCorresponds to variant dbSNP:rs1058219EnsemblClinVar.1
Natural variantiVAR_0561811673S → L. Corresponds to variant dbSNP:rs9282796Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0033511321 – 1347Missing in isoform 2. 3 PublicationsAdd BLAST27
Alternative sequenceiVSP_0033521413L → LYFEELYADDPKKYQSYRIS LYKRMI in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005254397.3 [Q9Y4I1-3]
UniGeneiHs.21213
Hs.596221

Genome annotation databases

EnsembliENST00000356338; ENSP00000348693; ENSG00000197535 [Q9Y4I1-2]
ENST00000399231; ENSP00000382177; ENSG00000197535 [Q9Y4I1-1]
GeneIDi4644
KEGGihsa:4644
UCSCiuc002abx.5 human [Q9Y4I1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

MYO5Abase

MYO5A mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005254397.3 [Q9Y4I1-3]
UniGeneiHs.21213
Hs.596221

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4D07X-ray1.85B1275-1297[»]
4J5LX-ray2.20A/B1448-1855[»]
4LLIX-ray2.20A/B1467-1855[»]
4LX1X-ray1.87A/B1464-1855[»]
4LX2X-ray1.50A1464-1855[»]
5JCYX-ray1.80A1464-1855[»]
5JCZX-ray2.06B/C/E1464-1855[»]
ProteinModelPortaliQ9Y4I1
SMRiQ9Y4I1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110728, 81 interactors
IntActiQ9Y4I1, 32 interactors
MINTiQ9Y4I1
STRINGi9606.ENSP00000382177

PTM databases

CarbonylDBiQ9Y4I1
iPTMnetiQ9Y4I1
PhosphoSitePlusiQ9Y4I1
SwissPalmiQ9Y4I1

Polymorphism and mutation databases

BioMutaiMYO5A
DMDMi296439234

Proteomic databases

EPDiQ9Y4I1
PaxDbiQ9Y4I1
PeptideAtlasiQ9Y4I1
PRIDEiQ9Y4I1
ProteomicsDBi86207
86208 [Q9Y4I1-2]
86209 [Q9Y4I1-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356338; ENSP00000348693; ENSG00000197535 [Q9Y4I1-2]
ENST00000399231; ENSP00000382177; ENSG00000197535 [Q9Y4I1-1]
GeneIDi4644
KEGGihsa:4644
UCSCiuc002abx.5 human [Q9Y4I1-1]

Organism-specific databases

CTDi4644
DisGeNETi4644
EuPathDBiHostDB:ENSG00000197535.14
GeneCardsiMYO5A
HGNCiHGNC:7602 MYO5A
HPAiHPA001356
MalaCardsiMYO5A
MIMi160777 gene
214450 phenotype
256710 phenotype
609227 phenotype
neXtProtiNX_Q9Y4I1
OpenTargetsiENSG00000197535
Orphaneti79476 Griscelli disease type 1
79478 Griscelli disease type 3
33445 Neuroectodermal melanolysosomal disease
PharmGKBiPA31407
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0160 Eukaryota
KOG0161 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00900000140810
HOVERGENiHBG052556
InParanoidiQ9Y4I1
KOiK10357
OMAiWRMYVVR
PhylomeDBiQ9Y4I1
TreeFamiTF328771

Enzyme and pathway databases

ReactomeiR-HSA-1445148 Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-264876 Insulin processing

Miscellaneous databases

ChiTaRSiMYO5A human
GeneWikiiMYO5A
GenomeRNAii4644
PROiPR:Q9Y4I1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197535 Expressed in 224 organ(s), highest expression level in dorsolateral prefrontal cortex
CleanExiHS_MYO5A
ExpressionAtlasiQ9Y4I1 baseline and differential
GenevisibleiQ9Y4I1 HS

Family and domain databases

CDDicd15478 Myo5a_CBD, 1 hit
cd01380 MYSc_Myo5, 1 hit
Gene3Di2.30.30.360, 1 hit
3.40.850.10, 3 hits
InterProiView protein in InterPro
IPR002710 Dilute_dom
IPR000048 IQ_motif_EF-hand-BS
IPR036961 Kinesin_motor_dom_sf
IPR037988 Myo5a_CBD
IPR001609 Myosin_head_motor_dom
IPR004009 Myosin_N
IPR008989 Myosin_S1_N
IPR036103 MYSc_Myo5
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF01843 DIL, 1 hit
PF00612 IQ, 6 hits
PF00063 Myosin_head, 1 hit
PRINTSiPR00193 MYOSINHEAVY
SMARTiView protein in SMART
SM01132 DIL, 1 hit
SM00015 IQ, 6 hits
SM00242 MYSc, 1 hit
SUPFAMiSSF52540 SSF52540, 3 hits
PROSITEiView protein in PROSITE
PS51126 DILUTE, 1 hit
PS50096 IQ, 6 hits
PS51456 MYOSIN_MOTOR, 1 hit
PS51844 SH3_LIKE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMYO5A_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4I1
Secondary accession number(s): A8MZC5
, O60653, Q07902, Q16249, Q9UE30, Q9UE31
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 18, 2010
Last modified: September 12, 2018
This is version 183 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again