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Protein

Unconventional myosin-Ia

Gene

MYO1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi101 – 1088ATPSequence Analysis

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. motor activity Source: InterPro

GO - Biological processi

  1. microvillus assembly Source: Ensembl
  2. sensory perception of sound Source: UniProtKB
  3. vesicle localization Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Myosin

Keywords - Ligandi

Actin-binding, ATP-binding, Calmodulin-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
ProteomesiUP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:7595. MYO1A.

Subcellular locationi

GO - Cellular componenti

  1. apical plasma membrane Source: Ensembl
  2. basal plasma membrane Source: Ensembl
  3. basolateral plasma membrane Source: UniProtKB
  4. brush border Source: UniProtKB
  5. cortical actin cytoskeleton Source: UniProtKB
  6. cytoplasm Source: UniProtKB
  7. filamentous actin Source: UniProtKB
  8. lateral plasma membrane Source: UniProtKB
  9. microvillus Source: UniProtKB
  10. myosin complex Source: UniProtKB-KW
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 48 (DFNA48)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:607841
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti116 – 1161S → SS in DFNA48. 1 Publication
VAR_015945
Natural varianti306 – 3061V → M in DFNA48; unknown pathological significance. 1 Publication
Corresponds to variant rs55679042 [ dbSNP | Ensembl ].
VAR_015946
Natural varianti385 – 3851E → D in DFNA48. 1 Publication
VAR_015947
Natural varianti662 – 6621G → E in DFNA48; unknown pathological significance. 1 Publication
Corresponds to variant rs33962952 [ dbSNP | Ensembl ].
VAR_015948
Natural varianti674 – 6741G → D in DFNA48. 1 Publication
VAR_015949
Natural varianti797 – 7971S → F in DFNA48. 1 Publication
Corresponds to variant rs113470661 [ dbSNP | Ensembl ].
VAR_015950
Natural varianti910 – 9101S → P in DFNA48. 1 Publication
VAR_015951

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

MIMi607841. phenotype.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
PharmGKBiPA31397.

Polymorphism and mutation databases

BioMutaiMYO1A.
DMDMi13431715.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10431043Unconventional myosin-IaPRO_0000123438Add
BLAST

Proteomic databases

MaxQBiQ9UBC5.
PaxDbiQ9UBC5.
PRIDEiQ9UBC5.

PTM databases

PhosphoSiteiQ9UBC5.

Expressioni

Gene expression databases

BgeeiQ9UBC5.
CleanExiHS_MYO1A.
ExpressionAtlasiQ9UBC5. baseline and differential.
GenevestigatoriQ9UBC5.

Organism-specific databases

HPAiHPA041633.

Interactioni

Protein-protein interaction databases

BioGridi110724. 5 interactions.
IntActiQ9UBC5. 2 interactions.
MINTiMINT-1137503.
STRINGi9606.ENSP00000300119.

Structurei

3D structure databases

ProteinModelPortaliQ9UBC5.
SMRiQ9UBC5. Positions 3-721.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini8 – 694687Myosin motorAdd
BLAST
Domaini697 – 71923IQ 1PROSITE-ProRule annotationAdd
BLAST
Domaini720 – 74223IQ 2PROSITE-ProRule annotationAdd
BLAST
Domaini743 – 77230IQ 3PROSITE-ProRule annotationAdd
BLAST
Domaini847 – 1042196Myosin tailSequence AnalysisAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni571 – 59323Actin-bindingSequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 3 IQ domains.PROSITE-ProRule annotation
Contains 1 myosin motor domain.Curated
Contains 1 myosin tail domain.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG5022.
GeneTreeiENSGT00760000118956.
HOGENOMiHOG000260264.
HOVERGENiHBG062373.
InParanoidiQ9UBC5.
KOiK10356.
OMAiQAMWKAQ.
OrthoDBiEOG7V49XQ.
PhylomeDBiQ9UBC5.
TreeFamiTF312960.

Family and domain databases

InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR010926. Myosin_tail_2.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00612. IQ. 2 hits.
PF00063. Myosin_head. 1 hit.
PF06017. Myosin_TH1. 1 hit.
[Graphical view]
PRINTSiPR00193. MYOSINHEAVY.
SMARTiSM00015. IQ. 3 hits.
SM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS50096. IQ. 2 hits.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti446 – 4461Q → P in AAC27437 (PubMed:9858156).Curated
Sequence conflicti712 – 7121R → G in AAC27437 (PubMed:9858156).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti116 – 1161S → SS in DFNA48. 1 Publication
VAR_015945
Natural varianti306 – 3061V → M in DFNA48; unknown pathological significance. 1 Publication
Corresponds to variant rs55679042 [ dbSNP | Ensembl ].
VAR_015946
Natural varianti385 – 3851E → D in DFNA48. 1 Publication
VAR_015947
Natural varianti426 – 4261P → L.
Corresponds to variant rs4759043 [ dbSNP | Ensembl ].
VAR_050207
Natural varianti506 – 5061C → S.
Corresponds to variant rs12297756 [ dbSNP | Ensembl ].
VAR_050208
Natural varianti600 – 6001F → L.
Corresponds to variant rs2270738 [ dbSNP | Ensembl ].
VAR_020320
Natural varianti662 – 6621G → E in DFNA48; unknown pathological significance. 1 Publication
Corresponds to variant rs33962952 [ dbSNP | Ensembl ].
VAR_015948
Natural varianti674 – 6741G → D in DFNA48. 1 Publication
VAR_015949
Natural varianti797 – 7971S → F in DFNA48. 1 Publication
Corresponds to variant rs113470661 [ dbSNP | Ensembl ].
VAR_015950
Natural varianti910 – 9101S → P in DFNA48. 1 Publication
VAR_015951
Natural varianti996 – 9961T → I.
Corresponds to variant rs17119344 [ dbSNP | Ensembl ].
VAR_050209

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.

Polymorphism and mutation databases

BioMutaiMYO1A.

Keywords - Coding sequence diversityi

Polymorphism

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. Positions 3-721.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110724. 5 interactions.
IntActiQ9UBC5. 2 interactions.
MINTiMINT-1137503.
STRINGi9606.ENSP00000300119.

PTM databases

PhosphoSiteiQ9UBC5.

Polymorphism and mutation databases

BioMutaiMYO1A.
DMDMi13431715.

Proteomic databases

MaxQBiQ9UBC5.
PaxDbiQ9UBC5.
PRIDEiQ9UBC5.

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.
GeneCardsiGC12M057422.
GeneReviewsiMYO1A.
HGNCiHGNC:7595. MYO1A.
HPAiHPA041633.
MIMi601478. gene.
607841. phenotype.
neXtProtiNX_Q9UBC5.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
PharmGKBiPA31397.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5022.
GeneTreeiENSGT00760000118956.
HOGENOMiHOG000260264.
HOVERGENiHBG062373.
InParanoidiQ9UBC5.
KOiK10356.
OMAiQAMWKAQ.
OrthoDBiEOG7V49XQ.
PhylomeDBiQ9UBC5.
TreeFamiTF312960.

Miscellaneous databases

GeneWikiiMYO1A.
GenomeRNAii4640.
NextBioi17876.
PROiQ9UBC5.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UBC5.
CleanExiHS_MYO1A.
ExpressionAtlasiQ9UBC5. baseline and differential.
GenevestigatoriQ9UBC5.

Family and domain databases

InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR010926. Myosin_tail_2.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00612. IQ. 2 hits.
PF00063. Myosin_head. 1 hit.
PF06017. Myosin_TH1. 1 hit.
[Graphical view]
PRINTSiPR00193. MYOSINHEAVY.
SMARTiSM00015. IQ. 3 hits.
SM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS50096. IQ. 2 hits.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Human brush border myosin I."
    Bikle D.D., Munson S.J.
    Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Intestine.
  2. "Brush border myosin I (BBMI): a basally localized transcript in human jejunal enterocytes."
    Li W., Wang J., Coluccio L.M., Matsudaira P., Grand R.J.
    J. Histochem. Cytochem. 48:89-94(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Jejunum.
  3. "Human brush border myosin-I and myosin-Ic expression in human intestine and Caco-2BBe cells."
    Skowron J.F., Bement W.M., Mooseker M.S.
    Cell Motil. Cytoskeleton 41:308-324(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "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].
    Tissue: Placenta.
  5. "Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss."
    Donaudy F., Ferrara A., Esposito L., Hertzano R., Ben-David O., Bell R.E., Melchionda S., Zelante L., Avraham K.B., Gasparini P.
    Am. J. Hum. Genet. 72:1571-1577(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DFNA48 SER-116 INS; MET-306; ASP-385; GLU-662; ASP-674; PHE-797 AND PRO-910.

Entry informationi

Entry nameiMYO1A_HUMAN
AccessioniPrimary (citable) accession number: Q9UBC5
Secondary accession number(s): Q9UQD7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 1, 2000
Last modified: April 29, 2015
This is version 139 of the entry and version 1 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-1 (MYH1).Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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

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 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.