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Protein

Unconventional myosin-Ia

Gene

MYO1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in directing the movement of organelles along actin filaments.Curated

Caution

Represents an unconventional myosin. This protein should not be confused with the conventional myosin-1 (MYH1).Curated
MYO1A mutations have been reported to cause autosomal dominant non-syndromic hearing loss DFNA48 (PubMed:12736868). It was later shown that MYO1A is not associated with DFNA48 (PubMed:24616153).2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi101 – 108ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

  • microvillus assembly Source: Ensembl
  • sensory perception of sound Source: UniProtKB
  • vesicle localization Source: UniProtKB

Keywordsi

Molecular functionActin-binding, Calmodulin-binding, Motor protein, Myosin
LigandATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Unconventional myosin-Ia
Alternative name(s):
Brush border myosin I
Short name:
BBM-I
Short name:
BBMI
Myosin I heavy chain
Short name:
MIHC
Gene namesi
Name:MYO1A
Synonyms:MYHL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000166866.12
HGNCiHGNC:7595 MYO1A
MIMi601478 gene
neXtProtiNX_Q9UBC5

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

Organism-specific databases

DisGeNETi4640
GeneReviewsiMYO1A
MalaCardsiMYO1A
OpenTargetsiENSG00000166866
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA31397

Polymorphism and mutation databases

BioMutaiMYO1A
DMDMi13431715

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001234381 – 1043Unconventional myosin-IaAdd BLAST1043

Post-translational modificationi

Phosphorylated by ALPK1.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UBC5
MaxQBiQ9UBC5
PaxDbiQ9UBC5
PeptideAtlasiQ9UBC5
PRIDEiQ9UBC5
ProteomicsDBi83941

PTM databases

iPTMnetiQ9UBC5
PhosphoSitePlusiQ9UBC5
SwissPalmiQ9UBC5

Expressioni

Gene expression databases

BgeeiENSG00000166866 Expressed in 101 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_MYO1A
ExpressionAtlasiQ9UBC5 baseline and differential
GenevisibleiQ9UBC5 HS

Organism-specific databases

HPAiHPA053490

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110724, 7 interactors
IntActiQ9UBC5, 4 interactors
MINTiQ9UBC5
STRINGi9606.ENSP00000300119

Structurei

3D structure databases

ProteinModelPortaliQ9UBC5
SMRiQ9UBC5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini8 – 694Myosin motorPROSITE-ProRule annotationAdd BLAST687
Domaini697 – 719IQ 1PROSITE-ProRule annotationAdd BLAST23
Domaini720 – 742IQ 2PROSITE-ProRule annotationAdd BLAST23
Domaini743 – 772IQ 3PROSITE-ProRule annotationAdd BLAST30
Domaini858 – 1042TH1PROSITE-ProRule annotationAdd BLAST185

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni571 – 593Actin-bindingSequence analysisAdd BLAST23

Sequence similaritiesi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0164 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00930000150810
HOGENOMiHOG000260264
HOVERGENiHBG062373
InParanoidiQ9UBC5
KOiK10356
OMAiMWKAQHP
OrthoDBiEOG091G0136
PhylomeDBiQ9UBC5
TreeFamiTF312960

Family and domain databases

CDDicd01378 MYSc_Myo1, 1 hit
Gene3Di3.40.850.10, 1 hit
InterProiView protein in InterPro
IPR000048 IQ_motif_EF-hand-BS
IPR036961 Kinesin_motor_dom_sf
IPR001609 Myosin_head_motor_dom
IPR010926 Myosin_TH1
IPR036072 MYSc_Myo1
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF00612 IQ, 2 hits
PF00063 Myosin_head, 1 hit
PF06017 Myosin_TH1, 1 hit
PRINTSiPR00193 MYOSINHEAVY
SMARTiView protein in SMART
SM00015 IQ, 3 hits
SM00242 MYSc, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50096 IQ, 2 hits
PS51456 MYOSIN_MOTOR, 1 hit
PS51757 TH1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q9UBC5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPLLEGSVGV EDLVLLEPLV EESLLKNLQL RYENKEIYTY IGNVVISVNP
60 70 80 90 100
YQQLPIYGPE FIAKYQDYTF YELKPHIYAL ANVAYQSLRD RDRDQCILIT
110 120 130 140 150
GESGSGKTEA SKLVMSYVAA VCGKGEQVNS VKEQLLQSNP VLEAFGNAKT
160 170 180 190 200
IRNNNSSRFG KYMDIEFDFK GSPLGGVITN YLLEKSRLVK QLKGERNFHI
210 220 230 240 250
FYQLLAGADE QLLKALKLER DTTGYAYLNH EVSRVDGMDD ASSFRAVQSA
260 270 280 290 300
MAVIGFSEEE IRQVLEVTSM VLKLGNVLVA DEFQASGIPA SGIRDGRGVR
310 320 330 340 350
EIGEMVGLNS EEVERALCSR TMETAKEKVV TALNVMQAQY ARDALAKNIY
360 370 380 390 400
SRLFDWIVNR INESIKVGIG EKKKVMGVLD IYGFEILEDN SFEQFVINYC
410 420 430 440 450
NEKLQQVFIE MTLKEEQEEY KREGIPWTKV DYFDNGIICK LIEHNQRGIL
460 470 480 490 500
AMLDEECLRP GVVSDSTFLA KLNQLFSKHG HYESKVTQNA QRQYDHTMGL
510 520 530 540 550
SCFRICHYAG KVTYNVTSFI DKNNDLLFRD LLQAMWKAQH PLLRSLFPEG
560 570 580 590 600
NPKQASLKRP PTAGAQFKSS VAILMKNLYS KSPNYIRCIK PNEHQQRGQF
610 620 630 640 650
SSDLVATQAR YLGLLENVRV RRAGYAHRQG YGPFLERYRL LSRSTWPHWN
660 670 680 690 700
GGDREGVEKV LGELSMSSGE LAFGKTKIFI RSPKTLFYLE EQRRLRLQQL
710 720 730 740 750
ATLIQKIYRG WRCRTHYQLM RKSQILISSW FRGNMQKKCY GKIKASVLLI
760 770 780 790 800
QAFVRGWKAR KNYRKYFRSE AALTLADFIY KSMVQKFLLG LKNNLPSTNV
810 820 830 840 850
LDKTWPAAPY KCLSTANQEL QQLFYQWKCK RFRDQLSPKQ VEILREKLCA
860 870 880 890 900
SELFKGKKAS YPQSVPIPFC GDYIGLQGNP KLQKLKGGEE GPVLMAEAVK
910 920 930 940 950
KVNRGNGKTS SRILLLTKGH VILTDTKKSQ AKIVIGLDNV AGVSVTSLKD
960 970 980 990 1000
GLFSLHLSEM SSVGSKGDFL LVSEHVIELL TKMYRAVLDA TQRQLTVTVT
1010 1020 1030 1040
EKFSVRFKEN SVAVKVVQGP AGGDNSKLRY KKKGSHCLEV TVQ
Length:1,043
Mass (Da):118,401
Last modified:May 1, 2000 - v1
Checksum:iEE5D79D9D6E085DC
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V342G3V342_HUMAN
Unconventional myosin-Ia
MYO1A
688Annotation score:
C9JU63C9JU63_HUMAN
Unconventional myosin-Ia
MYO1A
96Annotation score:
G3V587G3V587_HUMAN
Unconventional myosin-Ia
MYO1A
73Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti446Q → P in AAC27437 (PubMed:9858156).Curated1
Sequence conflicti712R → G in AAC27437 (PubMed:9858156).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015945116S → SS Found in a patient with hearing loss; unknown pathological significance. 1 Publication1
Natural variantiVAR_015946306V → M Found in a patient with hearing loss; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs55679042EnsemblClinVar.1
Natural variantiVAR_015947385E → D Found in a patient with hearing loss; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61753849EnsemblClinVar.1
Natural variantiVAR_050207426P → L. Corresponds to variant dbSNP:rs4759043EnsemblClinVar.1
Natural variantiVAR_050208506C → S. Corresponds to variant dbSNP:rs12297756EnsemblClinVar.1
Natural variantiVAR_020320600F → L. Corresponds to variant dbSNP:rs2270738Ensembl.1
Natural variantiVAR_015948662G → E Benign polymorphism; originally reported as possible disease-causing mutation in a patient with hearing loss. 2 PublicationsCorresponds to variant dbSNP:rs33962952EnsemblClinVar.1
Natural variantiVAR_015949674G → D Found in a patient with hearing loss; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148808080EnsemblClinVar.1
Natural variantiVAR_015950797S → F Found in a patient with hearing loss; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs113470661EnsemblClinVar.1
Natural variantiVAR_015951910S → P Found in a patient with hearing loss; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121909306EnsemblClinVar.1
Natural variantiVAR_050209996T → I. Corresponds to variant dbSNP:rs17119344EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF127026 mRNA Translation: AAD31189.1
AF105424 mRNA Translation: AAC78645.1
AF009961 mRNA Translation: AAC27437.1
BC059387 mRNA Translation: AAH59387.1
CCDSiCCDS8929.1
RefSeqiNP_001242970.1, NM_001256041.1
NP_005370.1, NM_005379.3
UniGeneiHs.5394

Genome annotation databases

EnsembliENST00000300119; ENSP00000300119; ENSG00000166866
ENST00000442789; ENSP00000393392; ENSG00000166866
GeneIDi4640
KEGGihsa:4640
UCSCiuc001smw.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF127026 mRNA Translation: AAD31189.1
AF105424 mRNA Translation: AAC78645.1
AF009961 mRNA Translation: AAC27437.1
BC059387 mRNA Translation: AAH59387.1
CCDSiCCDS8929.1
RefSeqiNP_001242970.1, NM_001256041.1
NP_005370.1, NM_005379.3
UniGeneiHs.5394

3D structure databases

ProteinModelPortaliQ9UBC5
SMRiQ9UBC5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110724, 7 interactors
IntActiQ9UBC5, 4 interactors
MINTiQ9UBC5
STRINGi9606.ENSP00000300119

PTM databases

iPTMnetiQ9UBC5
PhosphoSitePlusiQ9UBC5
SwissPalmiQ9UBC5

Polymorphism and mutation databases

BioMutaiMYO1A
DMDMi13431715

Proteomic databases

EPDiQ9UBC5
MaxQBiQ9UBC5
PaxDbiQ9UBC5
PeptideAtlasiQ9UBC5
PRIDEiQ9UBC5
ProteomicsDBi83941

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300119; ENSP00000300119; ENSG00000166866
ENST00000442789; ENSP00000393392; ENSG00000166866
GeneIDi4640
KEGGihsa:4640
UCSCiuc001smw.5 human

Organism-specific databases

CTDi4640
DisGeNETi4640
EuPathDBiHostDB:ENSG00000166866.12
GeneCardsiMYO1A
GeneReviewsiMYO1A
HGNCiHGNC:7595 MYO1A
HPAiHPA053490
MalaCardsiMYO1A
MIMi601478 gene
neXtProtiNX_Q9UBC5
OpenTargetsiENSG00000166866
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA31397
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0164 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00930000150810
HOGENOMiHOG000260264
HOVERGENiHBG062373
InParanoidiQ9UBC5
KOiK10356
OMAiMWKAQHP
OrthoDBiEOG091G0136
PhylomeDBiQ9UBC5
TreeFamiTF312960

Miscellaneous databases

GeneWikiiMYO1A
GenomeRNAii4640
PROiPR:Q9UBC5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166866 Expressed in 101 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_MYO1A
ExpressionAtlasiQ9UBC5 baseline and differential
GenevisibleiQ9UBC5 HS

Family and domain databases

CDDicd01378 MYSc_Myo1, 1 hit
Gene3Di3.40.850.10, 1 hit
InterProiView protein in InterPro
IPR000048 IQ_motif_EF-hand-BS
IPR036961 Kinesin_motor_dom_sf
IPR001609 Myosin_head_motor_dom
IPR010926 Myosin_TH1
IPR036072 MYSc_Myo1
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF00612 IQ, 2 hits
PF00063 Myosin_head, 1 hit
PF06017 Myosin_TH1, 1 hit
PRINTSiPR00193 MYOSINHEAVY
SMARTiView protein in SMART
SM00015 IQ, 3 hits
SM00242 MYSc, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50096 IQ, 2 hits
PS51456 MYOSIN_MOTOR, 1 hit
PS51757 TH1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMYO1A_HUMAN
AccessioniPrimary (citable) accession number: Q9UBC5
Secondary accession number(s): Q9UQD7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 170 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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