KEGG   Homo sapiens (human): 65057
Entry
65057             CDS       T01001                                 
Symbol
ACD, DKCA6, DKCB7, PIP1, PTOP, TINT1, TPP1
Name
(RefSeq) ACD shelterin complex subunit and telomerase recruitment factor
  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: ENSG00000102977
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (53)   
   RefGene (47)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (20)   
   RefSeq(nuc) (6)   
   GenBank (7)   
   EMBL (7)   
3D Structure (13)   
   PDB (13)   
Protein domain (1)   
   Pfam (1)   
All databases (94)   

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