KEGG   Homo sapiens (human): 4000Help
Entry
4000              CDS       T01001                                 

Gene name
LMNA, CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, PRO1
Definition
(RefSeq) lamin A/C
  KO
K12641  
lamin A/C
Organism
hsa  Homo sapiens (human)
Pathway
Apoptosis
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy
Disease
H00264  
Charcot-Marie-Tooth disease (CMT)
H00294  
Dilated cardiomyopathy (DCM)
H00420  
Familial partial lipodystrophy (FPL)
H00563  
Emery-Dreifuss muscular dystrophy
H00590  
Congenital muscular dystrophies (CMD/MDC)
H00593  
Limb-girdle muscular dystrophy (LGMD)
H00601  
Hutchinson-Gilford progeria syndrome
H00663  
Restrictive dermopathy
H00665  
Mandibuloacral dysplasia
H01216  
Left ventricular noncompaction (LVNC)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Cellular Processes
  Cell growth and death
   04210 Apoptosis
    4000 (LMNA)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    4000 (LMNA)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    4000 (LMNA)
   05414 Dilated cardiomyopathy (DCM)
    4000 (LMNA)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Type V: Nuclear lamins
     4000 (LMNA)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
Structure
PDB: 

Jmol
Position
1q22
AA seq 664 aa AA seqDB search
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLR
LRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARN
TKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAK
KQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRID
SLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQ
ELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRK
LESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAM
RKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASA
SGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQN
CSIM
NT seq 1995 nt NT seq  +upstreamnt  +downstreamnt
atggagaccccgtcccagcggcgcgccacccgcagcggggcgcaggccagctccactccg
ctgtcgcccacccgcatcacccggctgcaggagaaggaggacctgcaggagctcaatgat
cgcttggcggtctacatcgaccgtgtgcgctcgctggaaacggagaacgcagggctgcgc
cttcgcatcaccgagtctgaagaggtggtcagccgcgaggtgtccggcatcaaggccgcc
tacgaggccgagctcggggatgcccgcaagacccttgactcagtagccaaggagcgcgcc
cgcctgcagctggagctgagcaaagtgcgtgaggagtttaaggagctgaaagcgcgcaat
accaagaaggagggtgacctgatagctgctcaggctcggctgaaggacctggaggctctg
ctgaactccaaggaggccgcactgagcactgctctcagtgagaagcgcacgctggagggc
gagctgcatgatctgcggggccaggtggccaagcttgaggcagccctaggtgaggccaag
aagcaacttcaggatgagatgctgcggcgggtggatgctgagaacaggctgcagaccatg
aaggaggaactggacttccagaagaacatctacagtgaggagctgcgtgagaccaagcgc
cgtcatgagacccgactggtggagattgacaatgggaagcagcgtgagtttgagagccgg
ctggcggatgcgctgcaggaactgcgggcccagcatgaggaccaggtggagcagtataag
aaggagctggagaagacttattctgccaagctggacaatgccaggcagtctgctgagagg
aacagcaacctggtgggggctgcccacgaggagctgcagcagtcgcgcatccgcatcgac
agcctctctgcccagctcagccagctccagaagcagctggcagccaaggaggcgaagctt
cgagacctggaggactcactggcccgtgagcgggacaccagccggcggctgctggcggaa
aaggagcgggagatggccgagatgcgggcaaggatgcagcagcagctggacgagtaccag
gagcttctggacatcaagctggccctggacatggagatccacgcctaccgcaagctcttg
gagggcgaggaggagaggctacgcctgtcccccagccctacctcgcagcgcagccgtggc
cgtgcttcctctcactcatcccagacacagggtgggggcagcgtcaccaaaaagcgcaaa
ctggagtccactgagagccgcagcagcttctcacagcacgcacgcactagcgggcgcgtg
gccgtggaggaggtggatgaggagggcaagtttgtccggctgcgcaacaagtccaatgag
gaccagtccatgggcaattggcagatcaagcgccagaatggagatgatcccttgctgact
taccggttcccaccaaagttcaccctgaaggctgggcaggtggtgacgatctgggctgca
ggagctggggccacccacagcccccctaccgacctggtgtggaaggcacagaacacctgg
ggctgcgggaacagcctgcgtacggctctcatcaactccactggggaagaagtggccatg
cgcaagctggtgcgctcagtgactgtggttgaggacgacgaggatgaggatggagatgac
ctgctccatcaccaccacggctcccactgcagcagctcgggggaccccgctgagtacaac
ctgcgctcgcgcaccgtgctgtgcgggacctgcgggcagcctgccgacaaggcatctgcc
agcggctcaggagcccaggtgggcggacccatctcctctggctcttctgcctccagtgtc
acggtcactcgcagctaccgcagtgtggggggcagtgggggtggcagcttcggggacaat
ctggtcacccgctcctacctcctgggcaactccagcccccgaacccagagcccccagaac
tgcagcatcatgtaa

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