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Q9UBC5 (MYO1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:MYO1A
Synonyms:MYHL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1043 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Involvement in disease

Deafness, autosomal dominant, 48 (DFNA48) [MIM:607841]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Contains 3 IQ domains.

Contains 1 myosin head-like domain.

Caution

Represents an unconventional myosin. This protein should not be confused with the conventional myosin-1 (MYH1).

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10431043Unconventional myosin-Ia
PRO_0000123438

Regions

Domain1 – 681681Myosin head-like
Domain697 – 71923IQ 1
Domain720 – 74223IQ 2
Domain743 – 77230IQ 3
Nucleotide binding101 – 1088ATP Potential
Region571 – 59323Actin-binding Potential

Natural variations

Natural variant1161S → SS in DFNA48. Ref.5
VAR_015945
Natural variant3061V → M in DFNA48; unknown pathological significance. Ref.5
Corresponds to variant rs55679042 [ dbSNP | Ensembl ].
VAR_015946
Natural variant3851E → D in DFNA48. Ref.5
VAR_015947
Natural variant4261P → L.
Corresponds to variant rs4759043 [ dbSNP | Ensembl ].
VAR_050207
Natural variant5061C → S.
Corresponds to variant rs12297756 [ dbSNP | Ensembl ].
VAR_050208
Natural variant6001F → L.
Corresponds to variant rs2270738 [ dbSNP | Ensembl ].
VAR_020320
Natural variant6621G → E in DFNA48; unknown pathological significance. Ref.5
Corresponds to variant rs33962952 [ dbSNP | Ensembl ].
VAR_015948
Natural variant6741G → D in DFNA48. Ref.5
VAR_015949
Natural variant7971S → F in DFNA48. Ref.5
Corresponds to variant rs113470661 [ dbSNP | Ensembl ].
VAR_015950
Natural variant9101S → P in DFNA48. Ref.5
VAR_015951
Natural variant9961T → I.
Corresponds to variant rs17119344 [ dbSNP | Ensembl ].
VAR_050209

Experimental info

Sequence conflict4461Q → P in AAC27437. Ref.3
Sequence conflict7121R → G in AAC27437. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q9UBC5 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: EE5D79D9D6E085DC

FASTA1,043118,401
        10         20         30         40         50         60 
MPLLEGSVGV EDLVLLEPLV EESLLKNLQL RYENKEIYTY IGNVVISVNP YQQLPIYGPE 

        70         80         90        100        110        120 
FIAKYQDYTF YELKPHIYAL ANVAYQSLRD RDRDQCILIT GESGSGKTEA SKLVMSYVAA 

       130        140        150        160        170        180 
VCGKGEQVNS VKEQLLQSNP VLEAFGNAKT IRNNNSSRFG KYMDIEFDFK GSPLGGVITN 

       190        200        210        220        230        240 
YLLEKSRLVK QLKGERNFHI FYQLLAGADE QLLKALKLER DTTGYAYLNH EVSRVDGMDD 

       250        260        270        280        290        300 
ASSFRAVQSA MAVIGFSEEE IRQVLEVTSM VLKLGNVLVA DEFQASGIPA SGIRDGRGVR 

       310        320        330        340        350        360 
EIGEMVGLNS EEVERALCSR TMETAKEKVV TALNVMQAQY ARDALAKNIY SRLFDWIVNR 

       370        380        390        400        410        420 
INESIKVGIG EKKKVMGVLD IYGFEILEDN SFEQFVINYC NEKLQQVFIE MTLKEEQEEY 

       430        440        450        460        470        480 
KREGIPWTKV DYFDNGIICK LIEHNQRGIL AMLDEECLRP GVVSDSTFLA KLNQLFSKHG 

       490        500        510        520        530        540 
HYESKVTQNA QRQYDHTMGL SCFRICHYAG KVTYNVTSFI DKNNDLLFRD LLQAMWKAQH 

       550        560        570        580        590        600 
PLLRSLFPEG NPKQASLKRP PTAGAQFKSS VAILMKNLYS KSPNYIRCIK PNEHQQRGQF 

       610        620        630        640        650        660 
SSDLVATQAR YLGLLENVRV RRAGYAHRQG YGPFLERYRL LSRSTWPHWN GGDREGVEKV 

       670        680        690        700        710        720 
LGELSMSSGE LAFGKTKIFI RSPKTLFYLE EQRRLRLQQL ATLIQKIYRG WRCRTHYQLM 

       730        740        750        760        770        780 
RKSQILISSW FRGNMQKKCY GKIKASVLLI QAFVRGWKAR KNYRKYFRSE AALTLADFIY 

       790        800        810        820        830        840 
KSMVQKFLLG LKNNLPSTNV LDKTWPAAPY KCLSTANQEL QQLFYQWKCK RFRDQLSPKQ 

       850        860        870        880        890        900 
VEILREKLCA SELFKGKKAS YPQSVPIPFC GDYIGLQGNP KLQKLKGGEE GPVLMAEAVK 

       910        920        930        940        950        960 
KVNRGNGKTS SRILLLTKGH VILTDTKKSQ AKIVIGLDNV AGVSVTSLKD GLFSLHLSEM 

       970        980        990       1000       1010       1020 
SSVGSKGDFL LVSEHVIELL TKMYRAVLDA TQRQLTVTVT EKFSVRFKEN SVAVKVVQGP 

      1030       1040 
AGGDNSKLRY KKKGSHCLEV TVQ 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF127026 mRNA. Translation: AAD31189.1.
AF105424 mRNA. Translation: AAC78645.1.
AF009961 mRNA. Translation: AAC27437.1.
BC059387 mRNA. Translation: AAH59387.1.
RefSeqNP_001242970.1. NM_001256041.1.
NP_005370.1. NM_005379.3.
UniGeneHs.5394.

3D structure databases

ProteinModelPortalQ9UBC5.
SMRQ9UBC5. Positions 8-722, 735-767.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110724. 5 interactions.
IntActQ9UBC5. 2 interactions.
MINTMINT-1137503.
STRING9606.ENSP00000300119.

PTM databases

PhosphoSiteQ9UBC5.

Polymorphism databases

DMDM13431715.

Proteomic databases

PaxDbQ9UBC5.
PRIDEQ9UBC5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000300119; ENSP00000300119; ENSG00000166866.
ENST00000442789; ENSP00000393392; ENSG00000166866.
GeneID4640.
KEGGhsa:4640.
UCSCuc001smw.5. human.

Organism-specific databases

CTD4640.
GeneCardsGC12M057422.
HGNCHGNC:7595. MYO1A.
HPAHPA041633.
MIM601478. gene.
607841. phenotype.
neXtProtNX_Q9UBC5.
Orphanet90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKBPA31397.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5022.
HOGENOMHOG000260264.
HOVERGENHBG062373.
InParanoidQ9UBC5.
KOK10356.
OMAKCKRFRD.
OrthoDBEOG7V49XQ.
PhylomeDBQ9UBC5.
TreeFamTF312960.

Gene expression databases

ArrayExpressQ9UBC5.
BgeeQ9UBC5.
CleanExHS_MYO1A.
GenevestigatorQ9UBC5.

Family and domain databases

InterProIPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR010926. Myosin_tail_2.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF00612. IQ. 2 hits.
PF00063. Myosin_head. 1 hit.
PF06017. Myosin_TH1. 1 hit.
[Graphical view]
PRINTSPR00193. MYOSINHEAVY.
SMARTSM00015. IQ. 3 hits.
SM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
PROSITEPS50096. IQ. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMYO1A.
GenomeRNAi4640.
NextBio17876.
PROQ9UBC5.
SOURCESearch...

Entry information

Entry nameMYO1A_HUMAN
AccessionPrimary (citable) accession number: Q9UBC5
Secondary accession number(s): Q9UQD7
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 130 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM