ID MYO1H_HUMAN Reviewed; 1032 AA.
AC Q8N1T3; F5H3C6;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 2.
DT 24-JAN-2024, entry version 141.
DE RecName: Full=Unconventional myosin-Ih;
DE AltName: Full=Myosin-1H;
GN Name=MYO1H;
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 [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Corpus callosum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 344-496 (ISOFORM 3).
RA Stevens M., Wei C., Gross S.S., McPherson J., Brent M.R.;
RT "Exhaustive RT-PCR and sequencing of all novel TWINSCAN predictions in
RT human.";
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-365, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [5]
RP INVOLVEMENT IN CCHS2.
RX PubMed=28779001; DOI=10.1136/jmedgenet-2017-104765;
RA Spielmann M., Hernandez-Miranda L.R., Ceccherini I., Weese-Mayer D.E.,
RA Kragesteen B.K., Harabula I., Krawitz P., Birchmeier C., Leonard N.,
RA Mundlos S.;
RT "Mutations in MYO1H cause a recessive form of central hypoventilation with
RT autonomic dysfunction.";
RL J. Med. Genet. 54:754-761(2017).
CC -!- FUNCTION: Myosins are actin-based motor molecules with ATPase activity.
CC Unconventional myosins serve in intracellular movements. Their highly
CC divergent tails are presumed to bind to membranous compartments, which
CC would be moved relative to actin filaments (By similarity).
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N1T3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N1T3-2; Sequence=VSP_033497, VSP_033498, VSP_033499;
CC Name=3;
CC IsoId=Q8N1T3-3; Sequence=VSP_053792;
CC -!- DISEASE: Central hypoventilation syndrome, congenital, 2, and autonomic
CC dysfunction (CCHS2) [MIM:619482]: An autosomal recessive form of
CC congenital central hypoventilation syndrome, a rare disorder
CC characterized by abnormal control of respiration in the absence of
CC neuromuscular, lung or cardiac disease, or an identifiable brainstem
CC lesion. CCHS2 is characterized by shallow breathing and apneic spells
CC apparent in the neonatal period. Some patients have other features of
CC autonomic dysfunction, including bladder dysfunction, sinus
CC bradycardia, and temperature dysregulation.
CC {ECO:0000269|PubMed:28779001}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 3]: May be due to intron retention.
CC {ECO:0000305}.
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}.
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DR EMBL; AK094906; BAC04454.1; -; mRNA.
DR EMBL; AC007570; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC012384; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; DV080460; -; NOT_ANNOTATED_CDS; mRNA.
DR PDB; 6MBM; NMR; -; A=751-766.
DR PDB; 8EB1; NMR; -; A=751-766.
DR PDBsum; 6MBM; -.
DR PDBsum; 8EB1; -.
DR AlphaFoldDB; Q8N1T3; -.
DR SMR; Q8N1T3; -.
DR STRING; 9606.ENSP00000444076; -.
DR iPTMnet; Q8N1T3; -.
DR PhosphoSitePlus; Q8N1T3; -.
DR BioMuta; MYO1H; -.
DR DMDM; 189083206; -.
DR jPOST; Q8N1T3; -.
DR MassIVE; Q8N1T3; -.
DR PaxDb; 9606-ENSP00000439182; -.
DR PeptideAtlas; Q8N1T3; -.
DR ProteomicsDB; 26232; -.
DR ProteomicsDB; 71631; -. [Q8N1T3-1]
DR UCSC; uc010sxn.1; human. [Q8N1T3-1]
DR AGR; HGNC:13879; -.
DR GeneCards; MYO1H; -.
DR HGNC; HGNC:13879; MYO1H.
DR MalaCards; MYO1H; -.
DR MIM; 614636; gene.
DR MIM; 619482; phenotype.
DR neXtProt; NX_Q8N1T3; -.
DR Orphanet; 661; Congenital central hypoventilation syndrome.
DR eggNOG; KOG0164; Eukaryota.
DR HOGENOM; CLU_000192_7_7_1; -.
DR InParanoid; Q8N1T3; -.
DR PhylomeDB; Q8N1T3; -.
DR TreeFam; TF312960; -.
DR PathwayCommons; Q8N1T3; -.
DR ChiTaRS; MYO1H; human.
DR Pharos; Q8N1T3; Tdark.
DR PRO; PR:Q8N1T3; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q8N1T3; Protein.
DR Genevisible; Q8N1T3; HS.
DR GO; GO:0015629; C:actin cytoskeleton; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005902; C:microvillus; IBA:GO_Central.
DR GO; GO:0016459; C:myosin complex; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
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:0000146; F:microfilament motor activity; IBA:GO_Central.
DR GO; GO:0007015; P:actin filament organization; IBA:GO_Central.
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:SF353; UNCONVENTIONAL MYOSIN-IH; 1.
DR Pfam; PF00063; Myosin_head; 1.
DR Pfam; PF06017; Myosin_TH1; 1.
DR PRINTS; PR00193; MYOSINHEAVY.
DR SMART; SM00242; MYSc; 1.
DR SUPFAM; SSF52540; P-loop containing nucleoside triphosphate hydrolases; 1.
DR PROSITE; PS50096; IQ; 1.
DR PROSITE; PS51456; MYOSIN_MOTOR; 1.
DR PROSITE; PS51757; TH1; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Actin-binding; Alternative splicing; ATP-binding;
KW Motor protein; Myosin; Nucleotide-binding; Phosphoprotein;
KW Reference proteome; Repeat.
FT CHAIN 1..1032
FT /note="Unconventional myosin-Ih"
FT /id="PRO_0000333237"
FT DOMAIN 12..701
FT /note="Myosin motor"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00782"
FT DOMAIN 704..726
FT /note="IQ 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 727..756
FT /note="IQ 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT DOMAIN 855..1029
FT /note="TH1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01093"
FT REGION 578..600
FT /note="Actin-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00782"
FT BINDING 105..112
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000250"
FT MOD_RES 365
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..819
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033497"
FT VAR_SEQ 370..383
FT /note="VGQRILDPLLLLTW -> DFTR (in isoform 3)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_053792"
FT VAR_SEQ 937..946
FT /note="VSTSNLSDGI -> KKWAIFKTMH (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033498"
FT VAR_SEQ 947..1032
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033499"
FT VARIANT 37
FT /note="S -> R (in dbSNP:rs11611277)"
FT /id="VAR_043131"
FT VARIANT 705
FT /note="H -> Y (in dbSNP:rs34725387)"
FT /id="VAR_043132"
FT VARIANT 1011
FT /note="L -> P (in dbSNP:rs3825393)"
FT /id="VAR_050213"
FT CONFLICT 348
FT /note="K -> T (in Ref. 3; DV080460)"
FT /evidence="ECO:0000305"
FT HELIX 754..764
FT /evidence="ECO:0007829|PDB:6MBM"
SQ SEQUENCE 1032 AA; 119037 MW; 60BD256AD1220A2C CRC64;
MEGALTARDK VGVQDFVLLD AYTSESAFVD NLRKRFSENL IYTYIGTLLV SVNPYQELGI
YTVSQMELYQ GVNFFELPPH VYAIADNAYR MMCAELNNHF ILISGESGAG KTEASKKILE
YFAVTCPMTQ SLQIARDRLL FSNPVLEAFG NARTLRNDNS SRFGKYMDIQ FDFQGIPVGG
HIISYLIEKS RVVYQNEGER NFHIFYQLLA GGEEERLSYL GLERDPQLYK YLSQGHCAKE
SSISDKNDWK TVSNAFSVID FTEADLENLF GIIASVLHLG NIGFEEDDQG CATIPDTHEI
KWIAKLLGVH PSVLLEALTH RKIEAKTEEV ICPLTLELSV YARDAMAKAV YGRTFTWLVN
KINSSLVNKV GQRILDPLLL LTWKTVIGLL DIYGFEVFDK NGFEQFCINY CNEKLQQLLI
ERTLKAEQAE YEMEGIEWEP IKYFNNKIIC DLVEERHKGI ISILDEECIR PGPATDLSFL
EKLEEKVGKH AHFETRKLAG PKGRKRIGWM EFRLLHYAGE VTYCTKGFLE KNNDLLYRHL
KEVLCKSKNI ILRECFLLAE LENRRRPPTV GTQFKNSLSS LLETLISKEP SYIRCIKPND
RKEPSKFDDF LIRHQIKYLG LMEHLRVRRA GFAYRRKYEH FLQRYKSLCP DTWPHWHGPP
AEGVERLIKY IGYKPEEYKL GKTKIFIRFP RTLFATEDAF EFSKHQLVAR IQATYKRCLG
RREYVKKRQA AIKLEAHWRG ALARKAIQRR KWAVRIIRKF IKGFISRNKP LCPDNEEFIV
FVRKNYILNL RYHLPKTVLD KSWLRPPGIL ENASDLLRKM CVRNLVQKYC RGITAERKAM
MQQKVVTSEI FRGRKDGYTE SLNQPFVNSR IDEGDINPKV LQLISHEKIQ YGVPVIKYDR
KGFKARQRQL ILTQKAAYVV ELAKIKQKIE YSALKGVSTS NLSDGILVIH VSPEDSKQKG
DAVLQCGHVF EAVTKLVMLV KKENIVNVVQ GSLQFFISPG KEGTIVFDTG LEEQVYKNKN
GQLTVVSVRR KS
//
