KEGG   Homo sapiens (human): 65057
Entry
65057             CDS       T01001                                 
Symbol
ACD, DKCA6, DKCB7, PIP1, PTOP, TINT1, TPP1
Name
(RefSeq) adrenocortical dysplasia protein homolog isoform 1
  KO
K11114  adrenocortical dysplasia protein
Organism
hsa  Homo sapiens (human)
Network
nt06510  Telomere length regulation
  Element
N01477  Telomere elongation
Disease
H00507  Dyskeratosis congenita
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    65057 (ACD)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Telomere proteins
    Shelterin complex
     65057 (ACD)
SSDB
Motif
Pfam: TPP1
Other DBs
NCBI-GeneID: 65057
NCBI-ProteinID: NP_001075955
OMIM: 609377
HGNC: 25070
Ensembl: ENSP00000478084.1
UniProt: Q96AP0
Structure
Position
16:complement(67657512..67660260)
AA seq 458 aa
MAGSGRLVLRPWIRELILGSETPSSPRAGQLLEVLQDAEAAVAGPSHAPDTSDVGATLLV
SDGTHSVRCLVTREALDTSDWEEKEFGFRGTEGRLLLLQDCGVHVQVAEGGAPAEFYLQV
DRFSLLPTEQPRLRVPGCNQDLDVQKKLYDCLEEHLSESTSSNAGLSLSQLLDEMREDQE
HQGALVCLAESCLTLEGPCTAPPVTHWAASRCKATGEAVYTVPSSMLCISENDQLILSSL
GPCQRTQGPELPPPDPALQDLSLTLIASPPSSPSSSGTPALPGHMSSEESGTSISLLPAL
SLAAPDPGQRSSSQPSPAICSAPATLTPRSPHASRTPSSPLQSCTPSLSPRSHVPSPHQA
LVTRPQKPSLEFKEFVGLPCKNRPPFPRTGATRGAQEPCSVWEPPKRHRDGSAFQYEYEP
PCTSLCARVQAVRLPPQLMAWALHFLMDAQPGSEPTPM
NT seq 1377 nt   +upstreamnt  +downstreamnt
atggcaggttcggggaggctggtcctacggccctggattcgggagctgattctggggtca
gagacaccctccagtccacgagccgggcagctgcttgaggtactacaggacgccgaggcc
gcggtcgcgggcccatcccacgcccctgatacgtccgacgtcggggccacgctgcttgtg
tctgacgggacccacagtgtccgatgcctggtgacgcgggaggccctggacacctcggac
tgggaggagaaggagttcggcttccgcgggacagagggccggctgctgctgctgcaggac
tgcggggttcatgtccaggtcgctgagggcggcgcgcccgcagagttctatctccaggtg
gaccgcttcagcctgctgcccacggagcagccccggctacgggtgcctggttgcaaccaa
gacttagatgttcagaaaaagctctatgactgccttgaggagcacctttcagagtccacc
tcgtccaatgcaggcctatcactgtcccagcttctggatgaaatgcgggaggaccaggag
catcagggggcactcgtgtgcctggctgaaagctgcctgacactggagggcccttgcaca
gcaccccctgtcacccactgggctgcctcacgatgcaaggccacgggagaagctgtgtac
actgtccccagctcaatgctgtgcatctctgagaatgaccagctaattctgagctctcta
ggcccctgtcagaggacacagggccctgagctgcccccaccagacccggctctgcaggac
ctatctctgaccctcatagcctctcctccttcctcacccagttcctcaggaaccccggcc
ttacccggccacatgtcatccgaggaaagtggtaccagcatcagccttctgcctgccctg
tccttggctgctccagacccagggcagagaagcagctcccagccctcaccagccatctgc
tcagcccctgccaccctgacccccaggtccccacacgccagccgtacccccagctcccca
ctccagagctgcactcccagtctctcaccccgtagccatgtccccagtccacaccaggct
cttgtgaccaggccccagaaacctagcctggagttcaaggagtttgtagggttgccctgc
aagaatcggccgccttttcccaggaccggagctaccaggggagcccaggagccctgctct
gtctgggaacccccaaagaggcatcgtgatggttctgccttccagtatgagtatgagcca
ccctgcacgtccctctgtgctcgggtccaagctgtcaggcttcctccccagctcatggcc
tgggccttgcactttctgatggatgcacagccagggtctgagccaactccgatgtga

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