KEGG   Homo sapiens (human): 2010
Entry
2010              CDS       T01001                                 
Symbol
EMD, EDMD, LEMD5, STA
Name
(RefSeq) emerin
  KO
K12569  emerin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Disease
H00563  Emery-Dreifuss muscular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    2010 (EMD)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    2010 (EMD)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    2010 (EMD)
   05414 Dilated cardiomyopathy
    2010 (EMD)
SSDB
Motif
Pfam: LEM MGC-24 DotU
Other DBs
NCBI-GeneID: 2010
NCBI-ProteinID: NP_000108
OMIM: 300384
HGNC: 3331
Ensembl: ENSG00000102119
UniProt: P50402
Structure
Position
X:154379295..154381523
AA seq 254 aa
MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYS
FSDLNSTRGDADMYDLPKKEDALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQS
VTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSAYQSITHYRPVSASRSSLDLS
YYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLF
FIYHFMQAEEGNPF
NT seq 765 nt   +upstreamnt  +downstreamnt
atggacaactacgcagatctttcggataccgagctgaccaccttgctgcgccggtacaac
atcccgcacgggcctgtagtaggatcaactcgtaggctttacgagaagaagatcttcgag
tacgagacccagaggcggcggctctcgccccccagctcgtccgccgcctcctcttatagc
ttctctgacttgaattcgactagaggggatgcagatatgtatgatcttcccaagaaagag
gacgctttactctaccagagcaagggctacaatgacgactactatgaagagagctacttc
accaccaggacttatggggagcccgagtctgccggcccgtccagggctgtccgccagtca
gtgacttcattcccagatgctgacgctttccatcaccaggtgcatgatgacgatcttttg
tcttcttctgaagaggagtgcaaggatagggaacgccccatgtacggccgggacagtgcc
taccagagcatcacgcactaccgccctgtttcagcctccaggagctccctggacctgtcc
tattatcctacttcctcctccacctcttttatgtcctcctcatcatcttcctcttcatgg
ctcacccgccgtgccatccggcctgaaaaccgtgctcctggggctgggctgggccaggat
cgccaggtcccgctctggggccagctgctgcttttcctggtctttgtgatcgtcctcttc
ttcatttaccacttcatgcaggctgaagaaggcaaccccttctag

  All links  
Ontology (1)   
   KEGG BRITE (1)   
Pathway (4)   
   KEGG PATHWAY (4)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (8)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (13)   
   RefSeq(nuc) (3)   
   GenBank (5)   
   EMBL (5)   
3D Structure (6)   
   PDB (6)   
Protein domain (3)   
   Pfam (3)   
All databases (55)   

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