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
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]
 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 574 aa AA seqDB search
MGNSEGCNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKL
EAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNG
KQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEEL
QQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARM
QQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGG
GSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQ
NGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALIN
STGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCG
QPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSS
PRTQSPQNCSIIQEMGMRWEVEEGRRKVSLSCLP
NT seq 1725 nt NT seq  +upstreamnt  +downstreamnt
atggggaactctgagggctgcaataccaagaaggagggtgacctgatagctgctcaggct
cggctgaaggacctggaggctctgctgaactccaaggaggccgcactgagcactgctctc
agtgagaagcgcacgctggagggcgagctgcatgatctgcggggccaggtggccaagctt
gaggcagccctaggtgaggccaagaagcaacttcaggatgagatgctgcggcgggtggat
gctgagaacaggctgcagaccatgaaggaggaactggacttccagaagaacatctacagt
gaggagctgcgtgagaccaagcgccgtcatgagacccgactggtggagattgacaatggg
aagcagcgtgagtttgagagccggctggcggatgcgctgcaggaactgcgggcccagcat
gaggaccaggtggagcagtataagaaggagctggagaagacttattctgccaagctggac
aatgccaggcagtctgctgagaggaacagcaacctggtgggggctgcccacgaggagctg
cagcagtcgcgcatccgcatcgacagcctctctgcccagctcagccagctccagaagcag
ctggcagccaaggaggcgaagcttcgagacctggaggactcactggcccgtgagcgggac
accagccggcggctgctggcggaaaaggagcgggagatggccgagatgcgggcaaggatg
cagcagcagctggacgagtaccaggagcttctggacatcaagctggccctggacatggag
atccacgcctaccgcaagctcttggagggcgaggaggagaggctacgcctgtcccccagc
cctacctcgcagcgcagccgtggccgtgcttcctctcactcatcccagacacagggtggg
ggcagcgtcaccaaaaagcgcaaactggagtccactgagagccgcagcagcttctcacag
cacgcacgcactagcgggcgcgtggccgtggaggaggtggatgaggagggcaagtttgtc
cggctgcgcaacaagtccaatgaggaccagtccatgggcaattggcagatcaagcgccag
aatggagatgatcccttgctgacttaccggttcccaccaaagttcaccctgaaggctggg
caggtggtgacgatctgggctgcaggagctggggccacccacagcccccctaccgacctg
gtgtggaaggcacagaacacctggggctgcgggaacagcctgcgtacggctctcatcaac
tccactggggaagaagtggccatgcgcaagctggtgcgctcagtgactgtggttgaggac
gacgaggatgaggatggagatgacctgctccatcaccaccacggctcccactgcagcagc
tcgggggaccccgctgagtacaacctgcgctcgcgcaccgtgctgtgcgggacctgcggg
cagcctgccgacaaggcatctgccagcggctcaggagcccaggtgggcggacccatctcc
tctggctcttctgcctccagtgtcacggtcactcgcagctaccgcagtgtggggggcagt
gggggtggcagcttcggggacaatctggtcacccgctcctacctcctgggcaactccagc
ccccgaacccagagcccccagaactgcagcatcatacaagagatgggaatgaggtgggag
gtggaagaagggagaagaaaggtgagtttgagctgccttccctag

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