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MYO1H_HUMAN
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   03-AUG-2022, entry version 134.
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   PDBsum; 6MBM; -.
DR   AlphaFoldDB; Q8N1T3; -.
DR   SMR; Q8N1T3; -.
DR   STRING; 9606.ENSP00000439182; -.
DR   iPTMnet; Q8N1T3; -.
DR   PhosphoSitePlus; Q8N1T3; -.
DR   BioMuta; MYO1H; -.
DR   DMDM; 189083206; -.
DR   jPOST; Q8N1T3; -.
DR   MassIVE; Q8N1T3; -.
DR   PaxDb; Q8N1T3; -.
DR   PeptideAtlas; Q8N1T3; -.
DR   PRIDE; Q8N1T3; -.
DR   ProteomicsDB; 26232; -.
DR   ProteomicsDB; 71631; -. [Q8N1T3-1]
DR   UCSC; uc010sxn.1; human. [Q8N1T3-1]
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: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: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; 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; PF00063; Myosin_head; 1.
DR   Pfam; PF06017; Myosin_TH1; 1.
DR   PRINTS; PR00193; MYOSINHEAVY.
DR   SMART; SM00242; MYSc; 1.
DR   SUPFAM; SSF52540; SSF52540; 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
 
 
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