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2024-04-20 17:33:28, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002470 6061 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic
(MYH3), mRNA.
ACCESSION NM_002470
VERSION NM_002470.3 GI:345842434
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 6061)
AUTHORS Kimber,E., Tajsharghi,H., Kroksmark,A.K., Oldfors,A. and
Tulinius,M.
TITLE Distal arthrogryposis: clinical and genetic findings
JOURNAL Acta Paediatr. 101 (8), 877-887 (2012)
PUBMED 22519952
REMARK GeneRIF: Molecular genetic investigations revealed pathogenic
mutations in MYH3, TPM2, and TNNI2 in one sporadic and 19 familial
cases of distal arthrogryposis.
REFERENCE 2 (bases 1 to 6061)
AUTHORS Rutland,C.S., Polo-Parada,L., Ehler,E., Alibhai,A., Thorpe,A.,
Suren,S., Emes,R.D., Patel,B. and Loughna,S.
TITLE Knockdown of embryonic myosin heavy chain reveals an essential role
in the morphology and function of the developing heart
JOURNAL Development 138 (18), 3955-3966 (2011)
PUBMED 21862559
REMARK GeneRIF: eMYH plays a crucial role in important processes in the
early developing heart and, hence, is a candidate causative gene
for atrial septal defects and cardiomyopathy.
REFERENCE 3 (bases 1 to 6061)
AUTHORS Alvarado,D.M., Buchan,J.G., Gurnett,C.A. and Dobbs,M.B.
TITLE Exome sequencing identifies an MYH3 mutation in a family with
distal arthrogryposis type 1
JOURNAL J Bone Joint Surg Am 93 (11), 1045-1050 (2011)
PUBMED 21531865
REMARK GeneRIF: Identification of an MYH3 mutation in this family with
distal arthrogryposis type 1 broadens the phenotype associated with
MYH3 mutations to include distal arthrogryposis types 1, 2A
(Freeman-Sheldon syndrome), and 2B (Sheldon-Hall syndrome).
REFERENCE 4 (bases 1 to 6061)
AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
CONSRTM DREAM investigators
TITLE Variation at the NFATC2 locus increases the risk of
thiazolidinedione-induced edema in the Diabetes REduction
Assessment with ramipril and rosiglitazone Medication (DREAM) study
JOURNAL Diabetes Care 33 (10), 2250-2253 (2010)
PUBMED 20628086
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 5 (bases 1 to 6061)
AUTHORS Shyy,W., Wang,K., Sheffield,V.C. and Morcuende,J.A.
TITLE Evaluation of embryonic and perinatal myosin gene mutations and the
etiology of congenital idiopathic clubfoot
JOURNAL J Pediatr Orthop 30 (3), 231-234 (2010)
PUBMED 20357587
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (bases 1 to 6061)
AUTHORS Fu,G.K., Wang,J.T., Yang,J., Au-Young,J. and Stuve,L.L.
TITLE Circular rapid amplification of cDNA ends for high-throughput
extension cloning of partial genes
JOURNAL Genomics 84 (1), 205-210 (2004)
PUBMED 15203218
REFERENCE 7 (bases 1 to 6061)
AUTHORS Bober,E., Buchberger-Seidl,A., Braun,T., Singh,S., Goedde,H.W. and
Arnold,H.H.
TITLE Identification of three developmentally controlled isoforms of
human myosin heavy chains
JOURNAL Eur. J. Biochem. 189 (1), 55-65 (1990)
PUBMED 1691980
REFERENCE 8 (bases 1 to 6061)
AUTHORS Eller,M., Stedman,H.H., Sylvester,J.E., Fertels,S.H., Wu,Q.L.,
Raychowdhury,M.K., Rubinstein,N.A., Kelly,A.M. and Sarkar,S.
TITLE Human embryonic myosin heavy chain cDNA. Interspecies sequence
conservation of the myosin rod, chromosomal locus and isoform
specific transcription of the gene
JOURNAL FEBS Lett. 256 (1-2), 21-28 (1989)
PUBMED 2806546
REFERENCE 9 (bases 1 to 6061)
AUTHORS Karsch-Mizrachi,I., Travis,M., Blau,H. and Leinwand,L.A.
TITLE Expression and DNA sequence analysis of a human embryonic skeletal
muscle myosin heavy chain gene
JOURNAL Nucleic Acids Res. 17 (15), 6167-6179 (1989)
PUBMED 2771643
REFERENCE 10 (bases 1 to 6061)
AUTHORS Eller,M., Stedman,H.H., Sylvester,J.E., Fertels,S.H.,
Rubinstein,N.A., Kelly,A.M. and Sarkar,S.
TITLE Nucleotide sequence of full length human embryonic myosin heavy
chain cDNA
JOURNAL Nucleic Acids Res. 17 (9), 3591-3592 (1989)
PUBMED 2726495
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BP233220.1, BQ956249.1,
X13988.1, AC002347.3, BX500019.1, BY796597.2, BP232269.1,
BP232093.1, AY517555.1, CD614924.1 and BP370003.1.
This sequence is a reference standard in the RefSeqGene project.
On Sep 9, 2011 this sequence version replaced gi:98986452.
Summary: Myosin is a major contractile protein which converts
chemical energy into mechanical energy through the hydrolysis of
ATP. Myosin is a hexameric protein composed of a pair of myosin
heavy chains (MYH) and two pairs of nonidentical light chains. This
gene is a member of the MYH family and encodes a protein with an IQ
domain and a myosin head-like domain. Mutations in this gene have
been associated with two congenital contracture (arthrogryposis)
syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
[provided by RefSeq, Jul 2008].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
CDS exon combination :: X13988.1 [ECO:0000331]
RNAseq introns :: mixed/partial sample support ERS025081,
ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-449 BP233220.1 1-449
450-706 BQ956249.1 442-698
707-1066 X13988.1 703-1062
1067-1090 AC002347.3 98432-98455
1091-1809 X13988.1 1087-1805
1810-2103 BX500019.1 93-386
2104-2238 X13988.1 2100-2234
2239-2253 AC002347.3 103285-103299
2254-2282 X13988.1 2250-2278
2283-2377 AC002347.3 103727-103821
2378-2619 X13988.1 2374-2615
2620-3016 BY796597.2 89-485
3017-3039 X13988.1 3013-3035
3040-3136 BY796597.2 509-605
3137-3225 X13988.1 3133-3221
3226-3603 BP232269.1 168-545
3604-3929 BP232093.1 256-581
3930-4818 AY517555.1 846-1734
4819-5046 CD614924.1 355-582
5047-6030 AY517555.1 1963-2946
6031-6061 BP370003.1 452-482
FEATURES Location/Qualifiers
source 1..6061
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17p13.1"
gene 1..6061
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/note="myosin, heavy chain 3, skeletal muscle, embryonic"
/db_xref="GeneID:4621"
/db_xref="HGNC:7573"
/db_xref="MIM:160720"
exon 1..21
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 22..80
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 81..292
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
CDS 89..5911
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/note="myosin, heavy polypeptide 3, skeletal muscle,
embryonic; myosin, skeletal, heavy chain, embryonic 1;
myosin heavy chain, fast skeletal muscle, embryonic"
/codon_start=1
/product="myosin-3"
/protein_id="NP_002461.2"
/db_xref="GI:98986453"
/db_xref="CCDS:CCDS11157.1"
/db_xref="GeneID:4621"
/db_xref="HGNC:7573"
/db_xref="MIM:160720"
/translation="
MSSDTEMEVFGIAAPFLRKSEKERIEAQNQPFDAKTYCFVVDSKEEYAKGKIKSSQDGKVTVETEDNRTLVVKPEDVYAMNPPKFDRIEDMAMLTHLNEPAVLYNLKDRYTSWMIYTYSGLFCVTVNPYKWLPVYNPEVVEGYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAATGDLAKKKDSKMKGTLEDQIISANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKAERSYHIFYQILSNKKPELIELLLITTNPYDYPFISQGEILVASIDDAEELLATDSAIDILGFTPEEKSGLYKLTGAVMHYGNMKFKQKQREEQAEPDGTEVADKTAYLMGLNSSDLLKALCFPRVKVGNEYVTKGQTVDQVHHAVNALSKSVYEKLFLWMVTRINQQLDTKLPRQHFIGVLDIAGFEIFEYNSLEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECMFPKATDTSFKNKLYDQHLGKSNNFQKPKVVKGRAEAHFSLIHYAGTVDYSVSGWLEKNKDPLNETVVGLYQKSSNRLLAHLYATFATADADSGKKKVAKKKGSSFQTVSALFRENLNKLMSNLRTTHPHFVRCIIPNETKTPGAMEHSLVLHQLRCNGVLEGIRICRKGFPNRILYGDFKQRYRVLNASAIPEGQFIDSKKACEKLLASIDIDHTQYKFGHTKVFFKAGLLGTLEEMRDDRLAKLITRTQAVCRGFLMRVEFQKMVQRRESIFCIQYNIRSFMNVKHWPWMKLFFKIKPLLKSAETEKEMATMKEEFQKTKDELAKSEAKRKELEEKLVTLVQEKNDLQLQVQAESENLLDAEERCDQLIKAKFQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLTEELSGLDETIAKLTREKKALQEAHQQALDDLQAEEDKVNSLNKTKSKLEQQVEDLESSLEQEKKLRVDLERNKRKLEGDLKLAQESILDLENDKQQLDERLKKKDFEYCQLQSKVEDEQTLGLQFQKKIKELQARIEELEEEIEAERATRAKTEKQRSDYARELEELSERLEEAGGVTSTQIELNKKREAEFLKLRRDLEEATLQHEAMVAALRKKHADSVAELGEQIDNLQRVKQKLEKEKSEFKLEIDDLSSSMESVSKSKANLEKICRTLEDQLSEARGKNEEIQRSLSELTTQKSRLQTEAGELSRQLEEKESIVSQLSRSKQAFTQQTEELKRQLEEENKAKNALAHALQSSRHDCDLLREQYEEEQEGKAELQRALSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQDSEEQVEAVNAKCASLEKTKQRLQGEVEDLMVDVERANSLAAALDKKQRNFDKVLAEWKTKCEESQAELEASLKESRSLSTELFKLKNAYEEALDQLETVKRENKNLEQEIADLTEQIAENGKTIHELEKSRKQIELEKADIQLALEEAEAALEHEEAKILRIQLELTQVKSEIDRKIAEKDEEIEQLKRNYQRTVETMQSALDAEVRSRNEAIRLKKKMEGDLNEIEIQLSHANRQAAETLKHLRSVQGQLKDTQLHLDDALRGQEDLKEQLAIVERRANLLQAEVEELRATLEQTERARKLAEQELLDSNERVQLLHTQNTSLIHTKKKLETDLMQLQSEVEDASRDARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRLDEAEQLALKGGKKQIQKLETRIRELEFELEGEQKKNTESVKGLRKYERRVKELTYQSEEDRKNVLRLQDLVDKLQVKVKSYKRQAEEADEQANAHLTKFRKAQHELEEAEERADIAESQVNKLRAKTRDFTSSRMVVHESEE
"
misc_feature 191..316
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/note="Myosin N-terminal SH3-like domain; Region:
Myosin_N; pfam02736"
/db_xref="CDD:111612"
misc_feature 329..2425
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/note="Myosin. Large ATPases; Region: MYSc; smart00242"
/db_xref="CDD:197599"
misc_feature 332..2422
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/note="Myosin motor domain, type II myosins. Myosin II
mediates cortical contraction in cell motility, and is the
motor in smooth and skeletal muscle. This catalytic (head)
domain has ATPase activity and belongs to the larger group
of P-loop NTPases. Myosins...; Region: MYSc_type_II;
cd01377"
/db_xref="CDD:30099"
misc_feature order(467..478,482..487,629..652)
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/note="ATP-binding site [chemical binding]; other site"
/db_xref="CDD:30099"
misc_feature 809..826
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/note="switch I region; other site"
/db_xref="CDD:30099"
misc_feature 1475..1498
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/note="switch II region; other site"
/db_xref="CDD:30099"
misc_feature order(1559..1594,1601..1630)
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/note="relay loop; other site"
/db_xref="CDD:30099"
misc_feature 2054..2122
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P11055.3);
Region: Actin-binding"
misc_feature 2174..2218
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/note="SH1 helix; other site"
/db_xref="CDD:30099"
misc_feature order(2213..2218,2225..2227,2243..2245,2252..2257,
2264..2266,2357..2359,2366..2368,2372..2377,2381..2389,
2399..2401,2408..2416)
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/note="converter subdomain; other site"
/db_xref="CDD:30099"
misc_feature 2360..2404
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P11055.3);
Region: Actin-binding"
misc_feature 3293..5869
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/note="Myosin tail; Region: Myosin_tail_1; pfam01576"
/db_xref="CDD:144972"
exon 293..436
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
variation 415
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="a"
/replace="t"
/db_xref="dbSNP:35589501"
exon 437..593
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 594..621
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 622..730
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 731..823
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 824..887
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 888..986
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 987..1090
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 1091..1229
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 1230..1348
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
variation 1241
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="a"
/replace="c"
/db_xref="dbSNP:200891912"
exon 1349..1498
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 1499..1669
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
variation 1663
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="c"
/replace="t"
/db_xref="dbSNP:34695778"
exon 1670..1976
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 1977..2047
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 2048..2135
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 2136..2253
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
variation 2239
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="a"
/replace="c"
/db_xref="dbSNP:876657"
exon 2254..2377
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 2378..2514
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 2515..2770
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
variation 2620
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="a"
/replace="g"
/db_xref="dbSNP:2285469"
exon 2771..3013
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
variation 3004
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="a"
/replace="g"
/db_xref="dbSNP:2285472"
exon 3014..3190
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
variation 3040
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="c"
/replace="t"
/db_xref="dbSNP:2285474"
variation 3096
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="c"
/replace="t"
/db_xref="dbSNP:34088014"
exon 3191..3336
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
variation 3226
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="a"
/replace="c"
/db_xref="dbSNP:2285475"
exon 3337..3427
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 3428..3817
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
variation 3436
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="c"
/replace="t"
/db_xref="dbSNP:201626"
variation 3662
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="a"
/replace="g"
/db_xref="dbSNP:2285477"
exon 3818..3944
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 3945..4063
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
variation 4026
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="c"
/replace="t"
/db_xref="dbSNP:35230241"
exon 4064..4260
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 4261..4444
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
variation 4325
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="a"
/replace="g"
/db_xref="dbSNP:34026068"
exon 4445..4610
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 4611..4735
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 4736..5044
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
variation 4819
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="c"
/replace="t"
/db_xref="dbSNP:2285479"
variation 4998
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="c"
/replace="t"
/db_xref="dbSNP:34165480"
exon 5045..5248
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 5249..5374
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
variation 5342
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:34393601"
exon 5375..5545
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 5546..5650
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 5651..5746
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 5747..5884
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
exon 5885..6038
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
/inference="alignment:Splign:1.39.8"
polyA_signal 6011..6016
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
polyA_site 6038
/gene="MYH3"
/gene_synonym="HEMHC; MYHC-EMB; MYHSE1; SMHCE"
ORIGIN
gtggctcgcttgtgggcggaggtctgggatctcctggctgttgctgtcttctgctctcatcctgcaggtgggactctcagctgacaccatgagtagtgacactgaaatggaagtgttcggcatagctgctcctttcctccggaagtcagaaaaggagaggatcgaggctcagaaccagccctttgatgccaagacgtattgcttcgtggtggactcaaaggaagaatatgccaaggggaaaatcaagagttctcaggatgggaaggtcactgtggaaactgaggacaacaggaccctggtggtcaaaccagaggatgtgtacgccatgaacccccccaagttcgacaggatcgaagacatggccatgctgacgcacctgaatgagccagccgtgctgtacaacctgaaggaccgttacacatcttggatgatctatacctactcaggcctcttctgtgtcactgtcaacccctacaagtggctgccggtgtacaaccccgaggtggtggaaggctaccgaggcaaaaagcgccaggaggccccaccccacatcttctccatctctgacaacgcctatcagttcatgctgactgatcgtgaaaaccagtccattctgatcaccggagaatccggggcaggaaagactgtgaacaccaaacgggtcatccagtactttgcaacaattgcagctactggggacctggccaagaagaaggactccaaaatgaaggggactctggaagatcaaatcatcagtgccaatcccctgctggaggcctttgggaacgccaagactgtgaggaatgacaactcctcccgttttggcaagttcatccgaatccattttggaaccactgggaagctggcctctgcagatattgaaacttatcttctggaaaaatcaagagtcactttccagctgaaggctgaaagaagctaccacatcttctaccagattctttctaacaagaagcctgagctcatagagctgctgcttattacgaccaacccttacgactacccgttcattagccagggggagatcctggtggccagcatagatgatgcagaggagctgctggctacagacagcgccattgacatcctgggcttcaccccagaagagaaatctgggctctacaagctgacgggagccgtgatgcactacgggaacatgaagttcaagcagaagcagcgagaggagcaggccgagccggatggcacagaagtggctgacaaaacagcctatctgatgggcctgaactcttcggacctcctaaaagctttgtgctttcctagagtgaaagttgggaatgagtacgttaccaaaggtcaaactgtggatcaggttcaccatgctgtgaatgctctttcaaaatcagtttatgaaaagttgttcttgtggatggtcactcgcattaaccagcaactggatacgaagcttccaagacaacacttcattggtgttttggacattgcaggctttgaaatctttgagtataacagcctggagcagctgtgcatcaacttcaccaatgagaaactgcaacagtttttcaaccaccacatgttcgtgctggagcaggaggagtacaagaaggaaggcatcgagtggacgttcattgacttcgggatggacctggctgcctgcatcgagctcatcgagaagcctatgggcatcttctccatcctggaagaggagtgcatgttccccaaggcaacagacacctccttcaagaacaagctgtatgaccagcatcttggaaagtccaacaacttccagaagcccaaggtggtcaaaggcagggccgaggctcacttctcactgatccactatgcgggcaccgtggactacagtgtctcaggttggctggagaagaacaaggaccctctgaacgagactgtggttgggctgtaccagaagtcttccaacaggctcctggcacacctctatgccacgtttgccacggcggatgctgacagtggaaagaagaaagttgccaagaagaagggttcttccttccaaactgtctctgcccttttcagggaaaacctgaacaagctgatgtcaaatttaagaactactcaccctcattttgtgcgttgtataattcccaatgaaaccaaaactccaggggctatggaacacagccttgttctgcaccagctgcggtgtaacggtgtcctggagggcatccgcatctgcaggaaagggttcccaaacaggattctctatggcgattttaaacaaagataccgagtgctgaatgccagtgcaatccctgagggacaattcattgacagcaagaaagcctgtgaaaagcttctggcatccattgatattgaccacactcagtacaaatttggacataccaaggtgttcttcaaggctggcttgctgggaaccctggaagagatgcgggatgaccgcctggccaaactaatcacccggacacaagctgtgtgcagagggttcctcatgcgtgtggaattccagaagatggtgcagaggagggagtccatcttctgcatccagtacaacattcgctcattcatgaacgtcaagcactggccctggatgaaactcttcttcaagatcaagcccctcctcaagagtgcagagactgagaaagagatggccaccatgaaggaagaattccagaaaaccaaagatgaactcgccaagtcggaggcaaaaaggaaggagctagaggaaaaactggtgactctggtccaagagaagaatgacctgcagctccaagtacaagctgaaagcgaaaatttgttggatgctgaggaaagatgcgatcagctgatcaaagccaaattccagctcgaggccaagatcaaggaggtgacagagagagctgaagatgaggaggagatcaatgctgagctgacggccaagaagaggaaactggaggatgaatgctcagagctcaagaaagacattgatgaccttgagttgaccctggccaaggttgagaaggagaagcatgccacagagaacaaggttaaaaaccttactgaggaactctctgggttagatgaaacaattgcaaagttaaccagagagaagaaggccctccaagaggcgcaccagcaggccttggatgacctccaagctgaagaagacaaagtcaattctttgaacaaaaccaagagcaaactggaacagcaagtggaagacctggaaagctccctagaacaagaaaagaagctccgagtagacctggaaaggaacaaaaggaaattggaaggagacttgaagcttgctcaagagtccatattagatctggagaatgacaagcaacagctggacgaaaggctcaagaagaaagattttgaatattgtcaacttcaaagcaaagtggaagatgagcagacactgggcctccagtttcagaagaaaatcaaagagttgcaggctcgaattgaggagctggaagaggagatagaggcggagagggccacccgcgcgaagacagagaaacagcgcagcgactatgcccgggagctggaggagctgagcgagcggctggaggaggcgggaggcgtcacctccacgcagatagagctcaacaagaagcgggaggcggagttcctgaagctgcgcagggacctggaggaggccacactgcagcacgaagccatggtggccgcgctgaggaagaagcatgcggatagtgtggccgagcttggggagcagattgacaacctgcagcgggtcaagcagaagctggagaaggagaagagcgagttcaagctggagatcgatgacctctccagcagcatggagagtgtgtcgaaatctaaggcaaatctggaaaaaatctgccgaaccctggaggatcagttaagtgaggccaggggcaagaatgaggaaattcagaggagcctgagcgagctgaccacacagaagtctcgtttgcagaccgaggctggtgagctgagtcgtcagctggaagaaaaagaaagcatagtatcccaactttccaggagcaagcaagcctttacccagcaaacagaagagctcaagaggcagctggaggaagagaacaaggccaagaacgccctggcgcacgccctgcagtcctcccgccacgactgtgacctgctgcgggaacagtatgaggaggagcaggaaggcaaagctgagctgcagagggcgctgtccaaggccaatagtgaggttgcccagtggagaaccaaatacgagacggacgccatccagcgcacagaagagctggaggaggccaagaaaaaacttgctcagcgccttcaagattccgaggaacaggttgaggcagtgaatgctaaatgtgcttcactggagaagaccaagcagaggctgcaaggagaggtggaggatctgatggttgatgttgaaagagccaattccttggccgccgctctggacaagaagcagaggaactttgacaaggtgttggcagagtggaagacaaagtgtgaggagagccaagcagagctggaggcatccctgaaggagtcccgctccttgagcactgagctcttcaaactgaaaaatgcctacgaggaagccttagatcaacttgaaactgtgaaacgggaaaataagaacttagagcaggagatagcagatctcacagaacaaattgctgaaaatggcaaaaccatccatgaactggagaaatcaagaaagcagattgagctggaaaaggctgatatccagctggctctcgaggaagcagaggctgctcttgagcatgaagaagccaagatcctccgaatccagcttgaattgacacaagtgaaatcagaaattgatagaaagatcgccgagaaggatgaagagatcgagcagctgaagaggaactaccagagaacagtggaaaccatgcagagcgccctggacgccgaggtgcggagcaggaatgaagccatccggctcaagaagaagatggagggggacctgaatgaaatcgagatccagctgagccacgccaaccgccaggcggcggagaccctcaaacacctcaggagtgtccagggacagctgaaggatacgcagctccacctggatgatgccctccggggccaggaggacctgaaggagcagctggcgattgtggagcgcagagccaacctgctgcaggccgaggtggaggagctgcgggctactctggagcagacggagagggcccggaaactggcggaacaggagctcctggactccaacgagagggtgcagctgctgcatacccagaacaccagcctcatccacaccaagaagaagctggagacagacctcatgcagctccagagtgaggtagaagatgccagcagggatgcaaggaacgctgaggagaaggccaagaaggccatcacggacgctgccatgatggcggaggagctgaagaaggagcaggacaccagcgcccaccttgagcggatgaagaagaacctggaacagacggtgaaggacctgcagcatcgtctagatgaggccgagcagctggcgctgaagggcgggaagaagcagatccagaaactggagaccaggatccgagagctggagtttgaacttgagggagagcagaagaagaacacagagtctgttaagggcctgaggaagtatgagcggagggtcaaggagctgacgtaccagagtgaagaggacaggaagaatgtgctgagattgcaggatctggtggataaactgcaagtgaaagtcaagtcctacaagaggcaggcggaggaggctgatgaacaagccaatgctcatctcaccaaattccgaaaggctcagcatgagctggaggaggccgaggaacgtgcggatatcgcagaatctcaagtcaacaagctccgcgctaagactcgagacttcacctccagcaggatggtggtccacgagagtgaagagtgagccagcccttctggagcaggacagaagatatgcaaaatgtatattttcttgattcctgaccattgatacttaatgtccatgtgactctttttcacatgcaataaactttgctttgtttcaatctgggaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:4621 -> Molecular function: GO:0000146 [microfilament motor activity] evidence: NAS
GeneID:4621 -> Molecular function: GO:0003779 [actin binding] evidence: IEA
GeneID:4621 -> Molecular function: GO:0005516 [calmodulin binding] evidence: IEA
GeneID:4621 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
GeneID:4621 -> Biological process: GO:0007517 [muscle organ development] evidence: TAS
GeneID:4621 -> Biological process: GO:0030048 [actin filament-based movement] evidence: NAS
GeneID:4621 -> Biological process: GO:0030049 [muscle filament sliding] evidence: TAS
GeneID:4621 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:4621 -> Cellular component: GO:0030016 [myofibril] evidence: IEA
GeneID:4621 -> Cellular component: GO:0032982 [myosin filament] evidence: IEA
by
@meso_cacase at
DBCLS
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