MYO1A_HUMAN
ID MYO1A_HUMAN Reviewed; 1043 AA.
AC Q9UBC5; Q9UQD7;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 190.
DE RecName: Full=Unconventional myosin-Ia;
DE AltName: Full=Brush border myosin I;
DE Short=BBM-I;
DE Short=BBMI;
DE AltName: Full=Myosin I heavy chain;
DE Short=MIHC;
GN Name=MYO1A; Synonyms=MYHL;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Intestine;
RA Bikle D.D., Munson S.J.;
RT "Human brush border myosin I.";
RL Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Jejunum;
RX PubMed=10653589; DOI=10.1177/002215540004800109;
RA Li W., Wang J., Coluccio L.M., Matsudaira P., Grand R.J.;
RT "Brush border myosin I (BBMI): a basally localized transcript in human
RT jejunal enterocytes.";
RL J. Histochem. Cytochem. 48:89-94(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=9858156;
RX DOI=10.1002/(sici)1097-0169(1998)41:4<308::aid-cm4>3.0.co;2-j;
RA Skowron J.F., Bement W.M., Mooseker M.S.;
RT "Human brush border myosin-I and myosin-Ic expression in human intestine
RT and Caco-2BBe cells.";
RL Cell Motil. Cytoskeleton 41:308-324(1998).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PHOSPHORYLATION.
RX PubMed=15883161; DOI=10.1074/jbc.m502265200;
RA Heine M., Cramm-Behrens C.I., Ansari A., Chu H.P., Ryazanov A.G.,
RA Naim H.Y., Jacob R.;
RT "Alpha-kinase 1, a new component in apical protein transport.";
RL J. Biol. Chem. 280:25637-25643(2005).
RN [6]
RP VARIANTS SER-116 INS; MET-306; ASP-385; GLU-662; ASP-674; PHE-797 AND
RP PRO-910.
RX PubMed=12736868; DOI=10.1086/375654;
RA Donaudy F., Ferrara A., Esposito L., Hertzano R., Ben-David O., Bell R.E.,
RA Melchionda S., Zelante L., Avraham K.B., Gasparini P.;
RT "Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural
RT hearing loss.";
RL Am. J. Hum. Genet. 72:1571-1577(2003).
RN [7]
RP VARIANT GLU-662, AND LACK OF INVOLVEMENT IN DFNA48.
RX PubMed=24616153; DOI=10.1002/humu.22532;
RA Eisenberger T., Di Donato N., Baig S.M., Neuhaus C., Beyer A., Decker E.,
RA Muerbe D., Decker C., Bergmann C., Bolz H.J.;
RT "Targeted and genomewide NGS data disqualify mutations in MYO1A, the
RT 'DFNA48 gene', as a cause of deafness.";
RL Hum. Mutat. 35:565-570(2014).
CC -!- FUNCTION: Involved in directing the movement of organelles along actin
CC filaments. {ECO:0000305}.
CC -!- PTM: Phosphorylated by ALPK1. {ECO:0000269|PubMed:15883161}.
CC -!- SIMILARITY: Belongs to the TRAFAC class myosin-kinesin ATPase
CC superfamily. Myosin family. {ECO:0000305}.
CC -!- CAUTION: Represents an unconventional myosin. This protein should not
CC be confused with the conventional myosin-1 (MYH1). {ECO:0000305}.
CC -!- CAUTION: MYO1A mutations have been reported to cause autosomal dominant
CC non-syndromic hearing loss DFNA48 (PubMed:12736868). It was later shown
CC that MYO1A is not associated with DFNA48 (PubMed:24616153).
CC {ECO:0000269|PubMed:12736868, ECO:0000269|PubMed:24616153}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF127026; AAD31189.1; -; mRNA.
DR EMBL; AF105424; AAC78645.1; -; mRNA.
DR EMBL; AF009961; AAC27437.1; -; mRNA.
DR EMBL; BC059387; AAH59387.1; -; mRNA.
DR CCDS; CCDS8929.1; -.
DR RefSeq; NP_001242970.1; NM_001256041.1.
DR RefSeq; NP_005370.1; NM_005379.3.
DR AlphaFoldDB; Q9UBC5; -.
DR SMR; Q9UBC5; -.
DR BioGRID; 110724; 17.
DR IntAct; Q9UBC5; 5.
DR MINT; Q9UBC5; -.
DR STRING; 9606.ENSP00000393392; -.
DR iPTMnet; Q9UBC5; -.
DR PhosphoSitePlus; Q9UBC5; -.
DR SwissPalm; Q9UBC5; -.
DR BioMuta; MYO1A; -.
DR DMDM; 13431715; -.
DR EPD; Q9UBC5; -.
DR jPOST; Q9UBC5; -.
DR MassIVE; Q9UBC5; -.
DR MaxQB; Q9UBC5; -.
DR PaxDb; Q9UBC5; -.
DR PeptideAtlas; Q9UBC5; -.
DR PRIDE; Q9UBC5; -.
DR ProteomicsDB; 83941; -.
DR Antibodypedia; 28435; 98 antibodies from 24 providers.
DR DNASU; 4640; -.
DR Ensembl; ENST00000300119.8; ENSP00000300119.3; ENSG00000166866.13.
DR Ensembl; ENST00000442789.6; ENSP00000393392.2; ENSG00000166866.13.
DR GeneID; 4640; -.
DR KEGG; hsa:4640; -.
DR MANE-Select; ENST00000300119.8; ENSP00000300119.3; NM_005379.4; NP_005370.1.
DR UCSC; uc001smw.5; human.
DR CTD; 4640; -.
DR DisGeNET; 4640; -.
DR GeneCards; MYO1A; -.
DR GeneReviews; MYO1A; -.
DR HGNC; HGNC:7595; MYO1A.
DR HPA; ENSG00000166866; Tissue enriched (intestine).
DR MalaCards; MYO1A; -.
DR MIM; 601478; gene.
DR neXtProt; NX_Q9UBC5; -.
DR OpenTargets; ENSG00000166866; -.
DR Orphanet; 90635; Autosomal dominant non-syndromic sensorineural deafness type DFNA.
DR PharmGKB; PA31397; -.
DR VEuPathDB; HostDB:ENSG00000166866; -.
DR eggNOG; KOG0164; Eukaryota.
DR GeneTree; ENSGT00940000160660; -.
DR HOGENOM; CLU_000192_7_7_1; -.
DR InParanoid; Q9UBC5; -.
DR OMA; IKPNEYQ; -.
DR OrthoDB; 122881at2759; -.
DR PhylomeDB; Q9UBC5; -.
DR TreeFam; TF312960; -.
DR PathwayCommons; Q9UBC5; -.
DR SignaLink; Q9UBC5; -.
DR BioGRID-ORCS; 4640; 15 hits in 1069 CRISPR screens.
DR GeneWiki; MYO1A; -.
DR GenomeRNAi; 4640; -.
DR Pharos; Q9UBC5; Tbio.
DR PRO; PR:Q9UBC5; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q9UBC5; protein.
DR Bgee; ENSG00000166866; Expressed in jejunal mucosa and 116 other tissues.
DR ExpressionAtlas; Q9UBC5; baseline and differential.
DR Genevisible; Q9UBC5; HS.
DR GO; GO:0015629; C:actin cytoskeleton; IBA:GO_Central.
DR GO; GO:0016324; C:apical plasma membrane; IEA:Ensembl.
DR GO; GO:0016323; C:basolateral plasma membrane; IDA:UniProtKB.
DR GO; GO:0005903; C:brush border; IDA:UniProtKB.
DR GO; GO:0030864; C:cortical actin cytoskeleton; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0031941; C:filamentous actin; IDA:UniProtKB.
DR GO; GO:0016328; C:lateral plasma membrane; IDA:UniProtKB.
DR GO; GO:0005902; C:microvillus; IDA:UniProtKB.
DR GO; GO:0016459; C:myosin complex; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0044853; C:plasma membrane raft; IEA:Ensembl.
DR GO; GO:0051015; F:actin filament binding; IBA:GO_Central.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0005516; F:calmodulin binding; IEA:UniProtKB-KW.
DR GO; GO:0000146; F:microfilament motor activity; IBA:GO_Central.
DR GO; GO:0007015; P:actin filament organization; IBA:GO_Central.
DR GO; GO:0030033; P:microvillus assembly; IEA:Ensembl.
DR GO; GO:0007605; P:sensory perception of sound; IMP:UniProtKB.
DR GO; GO:0051648; P:vesicle localization; IMP:UniProtKB.
DR GO; GO:0030050; P:vesicle transport along actin filament; IBA:GO_Central.
DR CDD; cd01378; MYSc_Myo1; 1.
DR Gene3D; 3.40.850.10; -; 1.
DR InterPro; IPR000048; IQ_motif_EF-hand-BS.
DR InterPro; IPR036961; Kinesin_motor_dom_sf.
DR InterPro; IPR001609; Myosin_head_motor_dom.
DR InterPro; IPR010926; Myosin_TH1.
DR InterPro; IPR036072; MYSc_Myo1.
DR InterPro; IPR027417; P-loop_NTPase.
DR Pfam; PF00612; IQ; 2.
DR Pfam; PF00063; Myosin_head; 1.
DR Pfam; PF06017; Myosin_TH1; 1.
DR PRINTS; PR00193; MYOSINHEAVY.
DR SMART; SM00015; IQ; 3.
DR SMART; SM00242; MYSc; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS50096; IQ; 2.
DR PROSITE; PS51456; MYOSIN_MOTOR; 1.
DR PROSITE; PS51757; TH1; 1.
PE 1: Evidence at protein level;
KW Actin-binding; ATP-binding; Calmodulin-binding; Motor protein; Myosin;
KW Nucleotide-binding; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..1043
FT /note="Unconventional myosin-Ia"
FT /id="PRO_0000123438"
FT DOMAIN 8..694
FT /note="Myosin motor"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00782"
FT DOMAIN 697..719
FT /note="IQ 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 720..742
FT /note="IQ 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 743..772
FT /note="IQ 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 858..1042
FT /note="TH1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01093"
FT REGION 571..593
FT /note="Actin-binding"
FT /evidence="ECO:0000255"
FT BINDING 101..108
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT VARIANT 116
FT /note="S -> SS (found in a patient with hearing loss;
FT unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:12736868"
FT /id="VAR_015945"
FT VARIANT 306
FT /note="V -> M (found in a patient with hearing loss;
FT unknown pathological significance; dbSNP:rs55679042)"
FT /evidence="ECO:0000269|PubMed:12736868"
FT /id="VAR_015946"
FT VARIANT 385
FT /note="E -> D (found in a patient with hearing loss;
FT unknown pathological significance; dbSNP:rs61753849)"
FT /evidence="ECO:0000269|PubMed:12736868"
FT /id="VAR_015947"
FT VARIANT 426
FT /note="P -> L (in dbSNP:rs4759043)"
FT /id="VAR_050207"
FT VARIANT 506
FT /note="C -> S (in dbSNP:rs12297756)"
FT /id="VAR_050208"
FT VARIANT 600
FT /note="F -> L (in dbSNP:rs2270738)"
FT /id="VAR_020320"
FT VARIANT 662
FT /note="G -> E (benign variant; originally reported as
FT possible disease-causing mutation in a patient with hearing
FT loss; dbSNP:rs33962952)"
FT /evidence="ECO:0000269|PubMed:12736868,
FT ECO:0000269|PubMed:24616153"
FT /id="VAR_015948"
FT VARIANT 674
FT /note="G -> D (found in a patient with hearing loss;
FT unknown pathological significance; dbSNP:rs148808080)"
FT /evidence="ECO:0000269|PubMed:12736868"
FT /id="VAR_015949"
FT VARIANT 797
FT /note="S -> F (in dbSNP:rs113470661)"
FT /evidence="ECO:0000269|PubMed:12736868"
FT /id="VAR_015950"
FT VARIANT 910
FT /note="S -> P (found in a patient with hearing loss;
FT unknown pathological significance; dbSNP:rs121909306)"
FT /evidence="ECO:0000269|PubMed:12736868"
FT /id="VAR_015951"
FT VARIANT 996
FT /note="T -> I (in dbSNP:rs17119344)"
FT /id="VAR_050209"
FT CONFLICT 446
FT /note="Q -> P (in Ref. 3; AAC27437)"
FT /evidence="ECO:0000305"
FT CONFLICT 712
FT /note="R -> G (in Ref. 3; AAC27437)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1043 AA; 118401 MW; EE5D79D9D6E085DC CRC64;
MPLLEGSVGV EDLVLLEPLV EESLLKNLQL RYENKEIYTY IGNVVISVNP YQQLPIYGPE
FIAKYQDYTF YELKPHIYAL ANVAYQSLRD RDRDQCILIT GESGSGKTEA SKLVMSYVAA
VCGKGEQVNS VKEQLLQSNP VLEAFGNAKT IRNNNSSRFG KYMDIEFDFK GSPLGGVITN
YLLEKSRLVK QLKGERNFHI FYQLLAGADE QLLKALKLER DTTGYAYLNH EVSRVDGMDD
ASSFRAVQSA MAVIGFSEEE IRQVLEVTSM VLKLGNVLVA DEFQASGIPA SGIRDGRGVR
EIGEMVGLNS EEVERALCSR TMETAKEKVV TALNVMQAQY ARDALAKNIY SRLFDWIVNR
INESIKVGIG EKKKVMGVLD IYGFEILEDN SFEQFVINYC NEKLQQVFIE MTLKEEQEEY
KREGIPWTKV DYFDNGIICK LIEHNQRGIL AMLDEECLRP GVVSDSTFLA KLNQLFSKHG
HYESKVTQNA QRQYDHTMGL SCFRICHYAG KVTYNVTSFI DKNNDLLFRD LLQAMWKAQH
PLLRSLFPEG NPKQASLKRP PTAGAQFKSS VAILMKNLYS KSPNYIRCIK PNEHQQRGQF
SSDLVATQAR YLGLLENVRV RRAGYAHRQG YGPFLERYRL LSRSTWPHWN GGDREGVEKV
LGELSMSSGE LAFGKTKIFI RSPKTLFYLE EQRRLRLQQL ATLIQKIYRG WRCRTHYQLM
RKSQILISSW FRGNMQKKCY GKIKASVLLI QAFVRGWKAR KNYRKYFRSE AALTLADFIY
KSMVQKFLLG LKNNLPSTNV LDKTWPAAPY KCLSTANQEL QQLFYQWKCK RFRDQLSPKQ
VEILREKLCA SELFKGKKAS YPQSVPIPFC GDYIGLQGNP KLQKLKGGEE GPVLMAEAVK
KVNRGNGKTS SRILLLTKGH VILTDTKKSQ AKIVIGLDNV AGVSVTSLKD GLFSLHLSEM
SSVGSKGDFL LVSEHVIELL TKMYRAVLDA TQRQLTVTVT EKFSVRFKEN SVAVKVVQGP
AGGDNSKLRY KKKGSHCLEV TVQ
