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Protein

Unconventional myosin-Va

Gene

MYO5A

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

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • calcium ion binding Source: Ensembl
  • microfilament motor activity Source: UniProtKB
  • poly(A) RNA binding Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB

GO - Biological processi

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

BioCyciZFISH:G66-30928-MONOMER.
ReactomeiR-HSA-1445148. Translocation of 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:7602. MYO5A.

Subcellular locationi

GO - Cellular componenti

  • actomyosin Source: Ensembl
  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • filopodium tip Source: UniProtKB
  • Golgi apparatus Source: Ensembl
  • growth cone Source: UniProtKB
  • insulin-responsive compartment Source: UniProtKB
  • intermediate filament Source: Ensembl
  • melanosome Source: Ensembl
  • membrane Source: UniProtKB
  • microtubule plus-end Source: Ensembl
  • myosin complex Source: UniProtKB-KW
  • neuronal cell body Source: Ensembl
  • neuron projection Source: UniProtKB
  • photoreceptor outer segment Source: Ensembl
  • ruffle Source: UniProtKB
Complete GO annotation...

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.

PTM databases

iPTMnetiQ9Y4I1.
PhosphoSitePlusiQ9Y4I1.
SwissPalmiQ9Y4I1.

Expressioni

Tissue specificityi

Detected in melanocytes.

Gene expression databases

BgeeiENSG00000197535.
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

  • Rab GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi110728. 68 interactors.
IntActiQ9Y4I1. 31 interactors.
MINTiMINT-3388025.
STRINGi9606.ENSP00000382177.

Structurei

Secondary structure

11855
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi1285 – 1289Combined sources5
Beta strandi1475 – 1478Combined sources4
Helixi1481 – 1483Combined sources3
Helixi1484 – 1491Combined sources8
Turni1492 – 1494Combined sources3
Helixi1500 – 1502Combined sources3
Turni1505 – 1507Combined sources3
Helixi1508 – 1522Combined sources15
Helixi1526 – 1547Combined sources22
Helixi1551 – 1570Combined sources20
Helixi1575 – 1577Combined sources3
Helixi1583 – 1586Combined sources4
Beta strandi1591 – 1594Combined sources4
Helixi1596 – 1621Combined sources26
Helixi1622 – 1624Combined sources3
Helixi1625 – 1629Combined sources5
Helixi1661 – 1677Combined sources17
Helixi1682 – 1706Combined sources25
Beta strandi1708 – 1710Combined sources3
Helixi1713 – 1732Combined sources20
Helixi1740 – 1743Combined sources4
Helixi1745 – 1755Combined sources11
Helixi1761 – 1770Combined sources10
Helixi1776 – 1785Combined sources10
Turni1790 – 1792Combined sources3
Helixi1798 – 1807Combined sources10
Turni1808 – 1810Combined sources3
Helixi1838 – 1840Combined sources3
Helixi1845 – 1847Combined sources3
Beta strandi1852 – 1855Combined sources4

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...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini69 – 763Myosin motorAdd 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

Contains 1 dilute domain.PROSITE-ProRule annotation
Contains 6 IQ domains.PROSITE-ProRule annotation
Contains 1 myosin motor domain.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0160. Eukaryota.
KOG0161. Eukaryota.
COG5022. LUCA.
GeneTreeiENSGT00840000129687.
HOVERGENiHBG052556.
InParanoidiQ9Y4I1.
KOiK10357.
OMAiKDLEYHL.
PhylomeDBiQ9Y4I1.
TreeFamiTF328771.

Family and domain databases

InterProiIPR002710. Dilute_dom.
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.
SMARTiSM01132. DIL. 1 hit.
SM00015. 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. AlignAdd to basket

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

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 rs16964944dbSNPEnsembl.1
Natural variantiVAR_0106451246R → C.2 PublicationsCorresponds to variant rs1058219dbSNPEnsembl.1
Natural variantiVAR_0561811673S → L.Corresponds to variant rs9282796dbSNPEnsembl.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

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. 68 interactors.
IntActiQ9Y4I1. 31 interactors.
MINTiMINT-3388025.
STRINGi9606.ENSP00000382177.

PTM databases

iPTMnetiQ9Y4I1.
PhosphoSitePlusiQ9Y4I1.
SwissPalmiQ9Y4I1.

Polymorphism and mutation databases

BioMutaiMYO5A.
DMDMi296439234.

Proteomic databases

EPDiQ9Y4I1.
PaxDbiQ9Y4I1.
PeptideAtlasiQ9Y4I1.
PRIDEiQ9Y4I1.

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.
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.
GeneTreeiENSGT00840000129687.
HOVERGENiHBG052556.
InParanoidiQ9Y4I1.
KOiK10357.
OMAiKDLEYHL.
PhylomeDBiQ9Y4I1.
TreeFamiTF328771.

Enzyme and pathway databases

BioCyciZFISH:G66-30928-MONOMER.
ReactomeiR-HSA-1445148. Translocation of 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.
PROiQ9Y4I1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197535.
CleanExiHS_MYO5A.
ExpressionAtlasiQ9Y4I1. baseline and differential.
GenevisibleiQ9Y4I1. HS.

Family and domain databases

InterProiIPR002710. Dilute_dom.
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.
SMARTiSM01132. DIL. 1 hit.
SM00015. 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]
ProtoNetiSearch...

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: November 30, 2016
This is version 166 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.