KEGG   Homo sapiens (human): 3930
Entry
3930              CDS       T01001                                 

Gene name
LBR, C14SR, DHCR14B, LMN2R, PHA, PHASK, TDRD18
Definition
(RefSeq) lamin B receptor
  KO
K19532  Delta14-sterol reductase (lamin-B receptor) [EC:1.3.1.70]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00100  Steroid biosynthesis
hsa01100  Metabolic pathways
Disease
H00234  Pelger-Huet anomaly
H00447  HEM skeletal dysplasia
H01133  Reynolds syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00100 Steroid biosynthesis
    3930 (LBR)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    3930 (LBR)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.3  Acting on the CH-CH group of donors
   1.3.1  With NAD+ or NADP+ as acceptor
    1.3.1.70  Delta14-sterol reductase
     3930 (LBR)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Heterochromatin formation proteins
   Other heterochromatin formation proteins
    3930 (LBR)
SSDB
Motif
Pfam: ERG4_ERG24 LBR_tudor DUF1295 ICMT PEMT Tudor_3
Other DBs
NCBI-GeneID: 3930
NCBI-ProteinID: NP_002287
OMIM: 600024
HGNC: 6518
Ensembl: ENSG00000143815
Vega: OTTHUMG00000037520
Pharos: Q14739(Tbio)
UniProt: Q14739
Structure
PDB: 
2DIG

Position
1q42.12
AA seq 615 aa
MPSRKFADGEVVRGRWPGSSLYYEVEILSHDSTSQLYTVKYKDGTELELKENDIKPLTSF
RQRKGGSTSSSPSRRRGSRSRSRSRSPGRPPKSARRSASASHQADIKEARREVEVKLTPL
ILKPFGNSISRYNGEPEHIERNDAPHKNTQEKFSLSQESSYIATQYSLRPRREEVKLKEI
DSKEEKYVAKELAVRTFEVTPIRAKDLEFGGVPGVFLIMFGLPVFLFLLLLMCKQKDPSL
LNFPPPLPALYELWETRVFGVYLLWFLIQVLFYLLPIGKVVEGTPLIDGRRLKYRLNGFY
AFILTSAVIGTSLFQGVEFHYVYSHFLQFALAATVFCVVLSVYLYMRSLKAPRNDLSPAS
SGNAVYDFFIGRELNPRIGTFDLKYFCELRPGLIGWVVINLVMLLAEMKIQDRAVPSLAM
ILVNSFQLLYVVDALWNEEALLTTMDIIHDGFGFMLAFGDLVWVPFIYSFQAFYLVSHPN
EVSWPMASLIIVLKLCGYVIFRGANSQKNAFRKNPSDPKLAHLKTIHTSTGKNLLVSGWW
GFVRHPNYLGDLIMALAWSLPCGFNHILPYFYIIYFTMLLVHREARDEYHCKKKYGVAWE
KYCQRVPYRIFPYIY
NT seq 1848 nt   +upstreamnt  +downstreamnt
atgccaagtaggaaatttgccgatggtgaagtggtaagaggtcgatggcctgggagttca
ctttattatgaagtagaaattctgagccacgacagcacctcccagctttacactgtgaag
tataaagatggaacagagcttgaattgaaagagaatgatattaagcctttaacttccttt
aggcaaaggaaaggtggctcaacttccagttccccttccagacgccgagggagtcgatca
aggtcacgctcccgatcccctggtcgaccacctaaaagtgcccgccgatctgcttctgct
tcccaccaggccgacattaaggaagcaaggagggaagtggaagttaaattgactccgctg
attctgaagccatttggaaatagcatcagcagatataatggggagcctgagcatattgag
agaaatgacgcacctcataaaaatacacaggaaaaattcagtttgtcacaagaaagcagt
tacatagcaacacagtatagccttcgtccaagaagagaagaagtcaaattaaaagaaata
gattctaaggaagaaaaatacgttgcaaaagaactggcagtgagaacctttgaagtgacc
cccatccgggcaaaggacttggagtttggaggagtacctggtgtgtttctcatcatgttt
ggcctgcctgtgttcctcttcctgttgctgttgatgtgtaaacagaaagatcccagtctt
ctgaatttccctcctcctttgccagctttgtatgagttatgggaaaccagagtatttggg
gtctacctcctgtggtttttgattcaagtcctgttctacctactgccaattggaaaggtt
gtagaaggaacgcctcttattgatggaagaagactcaagtatagattaaatggattctat
gcttttatcctgacatctgcagtcatcggaacatctctcttccagggcgtagagtttcat
tacgtgtacagtcattttcttcagtttgcacttgcggccactgttttttgtgtggtcttg
agtgtgtatctctacatgcgctctttgaaagcgccccggaatgacctgtcgcctgccagc
tctggaaatgctgtctatgatttcttcattggccgtgaattaaaccctcgaattggtact
tttgatctcaaatacttttgtgaattgcgccccggattgattggatgggtggttattaac
ttggtgatgcttttggctgaaatgaaaatacaggaccgcgctgttccatccttggccatg
attttagttaatagtttccagcttctctatgtggtggatgctctctggaatgaggaagcg
ttgttgacgaccatggacatcatccacgatggatttggattcatgctggcttttggagac
ttggtgtgggttccctttatttacagcttccaagccttttatttagtcagtcatccaaat
gaagtgtcttggccaatggcttctctaattattgttctgaaactttgtggttatgtaatc
ttccgaggtgcaaattctcagaaaaatgcattccggaaaaatcccagtgatccaaagctt
gcacatttaaaaaccattcatacttcaacgggaaaaaatcttctagtttctggatggtgg
ggctttgttcgccaccccaattacttgggtgatctcatcatggccttggcgtggtccctc
ccatgtggttttaaccacattctgccttatttctacataatttatttcaccatgttgctt
gtccaccgagaagctcgtgacgagtaccactgtaagaagaaatacggcgtggcttgggaa
aagtactgtcagcgtgtgccctaccgtatatttccatacatctactaa

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