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   24-JAN-2024, entry version 198.
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}.
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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; 6.
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; 9606-ENSP00000393392; -.
DR   PeptideAtlas; Q9UBC5; -.
DR   ProteomicsDB; 83941; -.
DR   Antibodypedia; 28435; 116 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   AGR; HGNC:7595; -.
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; Rare 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; 1094820at2759; -.
DR   PhylomeDB; Q9UBC5; -.
DR   TreeFam; TF312960; -.
DR   PathwayCommons; Q9UBC5; -.
DR   SignaLink; Q9UBC5; -.
DR   BioGRID-ORCS; 4640; 15 hits in 1147 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 118 other cell types or tissues.
DR   ExpressionAtlas; Q9UBC5; baseline and differential.
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:0031982; C:vesicle; IBA:GO_Central.
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; 1.10.10.820; -; 1.
DR   Gene3D; 1.20.5.190; -; 1.
DR   Gene3D; 1.20.58.530; -; 1.
DR   Gene3D; 6.20.240.20; -; 1.
DR   Gene3D; 3.40.850.10; Kinesin motor domain; 1.
DR   Gene3D; 1.20.120.720; Myosin VI head, motor domain, U50 subdomain; 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   PANTHER; PTHR13140; MYOSIN; 1.
DR   PANTHER; PTHR13140:SF291; UNCONVENTIONAL MYOSIN-IA; 1.
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; P-loop containing nucleoside triphosphate hydrolases; 1.
DR   PROSITE; PS50096; IQ; 2.
DR   PROSITE; PS51456; MYOSIN_MOTOR; 1.
DR   PROSITE; PS51757; TH1; 1.
DR   Genevisible; Q9UBC5; HS.
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                   uncertain 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                   uncertain 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                   uncertain 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 (found in a patient with hearing loss;
FT                   benign; 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                   uncertain 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                   uncertain 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
//