KEGG   Homo sapiens (human): 25913
Entry
25913             CDS       T01001                                 
Symbol
POT1, CMM10, CRMCC3, GLM9, HPOT1, PFBMFT8, TPDS3
Name
(RefSeq) protection of telomeres 1
  KO
K11109  protection of telomeres protein 1
Organism
hsa  Homo sapiens (human)
Network
nt06510  Telomere length regulation
  Element
N01477  Telomere elongation
Disease
H00038  Melanoma
H00042  Glioma
H02251  Cerebroretinal microangiopathy with calcifications and cysts
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
H02624  Tumor predisposition syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    25913 (POT1)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Telomere proteins
    Shelterin complex
     25913 (POT1)
SSDB
Motif
Pfam: POT1_C_insert POT1PC POT1
Other DBs
NCBI-GeneID: 25913
NCBI-ProteinID: NP_056265
OMIM: 606478
HGNC: 17284
Ensembl: ENSG00000128513
UniProt: Q9NUX5
Structure
Position
7:complement(124822386..124929825)
AA seq 634 aa
MSLVPATNYIYTPLNQLKGGTIVNVYGVVKFFKPPYLSKGTDYCSVVTIVDQTNVKLTCL
LFSGNYEALPIIYKNGDIVRFHRLKIQVYKKETQGITSSGFASLTFEGTLGAPIIPRTSS
KYFNFTTEDHKMVEALRVWASTHMSPSWTLLKLCDVQPMQYFDLTCQLLGKAEVDGASFL
LKVWDGTRTPFPSWRVLIQDLVLEGDLSHIHRLQNLTIDILVYDNHVHVARSLKVGSFLR
IYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLESANLTAN
QHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQY
RIRAKLRSYKPRRLFQSVKLHCPKCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYD
SKIWTTKNQKGRKVAVHFVKNNGILPLSNECLLLIEGGTLSEICKLSNKFNSVIPVRSGH
EDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAEALGIVPLQY
VFVMTFTLDDGTGVLEAYLMDSDKFFQIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAY
PWLECFIKSYNVTNGTDNQICYQIFDTTVAEDVI
NT seq 1905 nt   +upstreamnt  +downstreamnt
atgtctttggttccagcaacaaattatatatatacacccctgaatcaacttaagggtggt
acaattgtcaatgtctatggtgttgtgaagttctttaagcccccatatctaagcaaagga
actgattattgctcagttgtaactattgtggaccagacaaatgtaaaactaacttgcctg
ctctttagtggaaactatgaagcccttccaataatttataaaaatggagatattgttcgc
tttcacaggctgaagattcaagtatataaaaaggagactcagggtatcaccagctctggc
tttgcatctttgacgtttgagggaactttgggagcccctatcatacctcgcacttcaagc
aagtattttaacttcactactgaggaccacaaaatggtagaagccttacgtgtttgggca
tctactcatatgtcaccgtcttggacattactaaaattgtgtgatgttcagccaatgcag
tattttgacctgacttgtcagctcttgggcaaagcagaagtggacggagcatcatttctt
ctaaaggtatgggatggcaccaggacaccatttccatcttggagagtcttaatacaagac
cttgttcttgaaggtgatttaagtcacatccatcggctacaaaatctgacaatagacatt
ttagtctacgataaccatgttcatgtggcaagatctctgaaggttggaagctttcttaga
atctatagccttcataccaaacttcaatcaatgaattcagagaatcagacaatgttaagt
ttagagtttcatcttcatggaggtaccagttacggtcggggaatcagggtcttgccagaa
agtaactctgatgtggatcaactgaaaaaggatttagaatctgcaaatttgacagccaat
cagcattcagatgttatctgtcaatcagaacctgacgacagctttccaagctctggatca
gtatcattatacgaggtagaaagatgtcaacagctatctgctacaatacttacagatcat
cagtatttggagaggacaccactatgtgccattttgaaacaaaaagctcctcaacaatac
cgcatccgagcaaaattgaggtcatataagcccagaagactatttcagtctgttaaactt
cattgccctaaatgtcatttgctgcaagaagttccacatgagggcgatttggatataatt
tttcaggatggtgcaactaaaaccccagatgtcaagctacaaaatacatcattatatgat
tcaaaaatctggaccactaaaaatcaaaaaggacgaaaagtagcagttcattttgtgaaa
aataatggtattctcccgctttcaaatgaatgtctacttttgatagaaggaggtacactc
agtgaaatttgcaaactctcgaacaagtttaatagtgtaattcctgtgagatctggccac
gaagacctggaacttttggacctttcagcaccatttcttatacaaggaacaatacatcac
tatggatgtaaacagtgttctagtttgagatccatacaaaatctaaattccctggttgat
aaaacatcgtggattccttcttctgtggcagaagcactgggtattgtacccctccaatat
gtgtttgttatgacctttacacttgatgatggaacaggagtactagaagcctatctcatg
gattctgacaaattcttccagattccagcatcagaagttctgatggatgatgaccttcag
aaaagtgtggatatgatcatggatatgttttgtcctccaggaataaaaattgatgcatat
ccgtggttggaatgcttcatcaagtcatacaatgtcacaaatggaacagataatcaaatt
tgctatcagatttttgacaccacagttgcagaagatgtaatctaa

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Ontology (2)   
   KEGG BRITE (2)   
Network (2)   
   KEGG NETWORK (2)   
Disease (9)   
   KEGG DISEASE (5)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   RefGene (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (37)   
   RefSeq(nuc) (5)   
   GenBank (16)   
   EMBL (16)   
3D Structure (14)   
   PDB (14)   
Protein domain (3)   
   Pfam (3)   
All databases (91)   

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