(Translated by
https://www.hiragana.jp/
)
KEGG T01001: 4000
Homo sapiens (human): 4000
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Entry
4000 CDS
T01001
Symbol
LMNA, CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, PRO1
Name
(RefSeq) lamin A/C
KO
K12641
lamin A/C
Organism
hsa
Homo sapiens (human)
Pathway
hsa04210
Apoptosis
hsa04820
Cytoskeleton in muscle cells
hsa05410
Hypertrophic cardiomyopathy
hsa05412
Arrhythmogenic right ventricular cardiomyopathy
hsa05414
Dilated cardiomyopathy
Network
nt06539
Cytoskeleton in muscle cells
Element
N01822
Linker of nucleoskeleton and cytoskeleton (LINC) complex
Disease
H00264
Charcot-Marie-Tooth disease
H00294
Dilated cardiomyopathy
H00420
Familial partial lipodystrophy
H00563
Emery-Dreifuss muscular dystrophy
H00590
Congenital muscular dystrophies (CMD/MDC)
H00601
Hutchinson-Gilford progeria syndrome
H00663
Restrictive dermopathy
H00665
Mandibuloacral dysplasia
H02677
Progeroid laminopathy
H02725
Heart-hand syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09140 Cellular Processes
09143 Cell growth and death
04210 Apoptosis
4000 (LMNA)
09142 Cell motility
04820 Cytoskeleton in muscle cells
4000 (LMNA)
09160 Human Diseases
09166 Cardiovascular disease
05410 Hypertrophic cardiomyopathy
4000 (LMNA)
05412 Arrhythmogenic right ventricular cardiomyopathy
4000 (LMNA)
05414 Dilated cardiomyopathy
4000 (LMNA)
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04812 Cytoskeleton proteins [BR:
hsa04812
]
4000 (LMNA)
Cytoskeleton proteins [BR:
hsa04812
]
Eukaryotic cytoskeleton proteins
Intermediate filaments
Intermediate filaments
Type V: Nuclear lamins
4000 (LMNA)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Filament
LTD
TPR_MLP1_2
HAUS-augmin3
TolA_bind_tri
Cnn_1N
CENP-F_leu_zip
Tht1
DUF4407
Motif
Other DBs
NCBI-GeneID:
4000
NCBI-ProteinID:
NP_733821
OMIM:
150330
HGNC:
6636
Ensembl:
ENSG00000160789
UniProt:
P02545
A0A384MQX1
Structure
PDB
LinkDB
All DBs
Position
1:156082573..156140081
Genome browser
AA seq
664 aa
AA seq
DB search
METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLR
LRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARN
TKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAK
KQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRID
SLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQ
ELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRK
LESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAM
RKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASA
SGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQN
CSIM
NT seq
1995 nt
NT seq
+upstream
nt +downstream
nt
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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