KEGG   Homo sapiens (human): 51750
Entry
51750             CDS       T01001                                 
Symbol
RTEL1, C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL
Name
(RefSeq) regulator of telomere elongation helicase 1
  KO
K11136  regulator of telomere elongation helicase 1 [EC:5.6.2.3]
Organism
hsa  Homo sapiens (human)
Network
nt06506  Double-strand break repair
nt06510  Telomere length regulation
  Element
N01449  Synthesis-dependent strand annealing
N01477  Telomere elongation
Disease
H00507  Dyskeratosis congenita
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    51750 (RTEL1)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.3  DNA 5'-3' helicase
     51750 (RTEL1)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Other termination factors
    51750 (RTEL1)
SSDB
Motif
Pfam: DEAD_2 ARCH_RTEL1 Helicase_C_2 HHD_RTEL1 ResIII DEAD SNF2-rel_dom CCM2_C
Other DBs
NCBI-GeneID: 51750
NCBI-ProteinID: NP_057518
OMIM: 608833
HGNC: 15888
Ensembl: ENSG00000258366
UniProt: Q9NZ71
Structure
LinkDB
Position
20:63657810..63696253
AA seq 1219 aa
MPKIVLNGVTVDFPFQPYKCQQEYMTKVLECLQQKVNGILESPTGTGKTLCLLCTTLAWR
EHLRDGISARKIAERAQGELFPDRALSSWGNAAAAAGDPIACYTDIPKIIYASRTHSQLT
QVINELRNTSYRPKVCVLGSREQLCIHPEVKKQESNHLQIHLCRKKVASRSCHFYNNVEE
KSLEQELASPILDIEDLVKSGSKHRVCPYYLSRNLKQQADIIFMPYNYLLDAKSRRAHNI
DLKGTVVIFDEAHNVEKMCEESASFDLTPHDLASGLDVIDQVLEEQTKAAQQGEPHPEFS
ADSPSPGLNMELEDIAKLKMILLRLEGAIDAVELPGDDSGVTKPGSYIFELFAEAQITFQ
TKGCILDSLDQIIQHLAGRAGVFTNTAGLQKLADIIQIVFSVDPSEGSPGSPAGLGALQS
YKVHIHPDAGHRRTAQRSDAWSTTAARKRGKVLSYWCFSPGHSMHELVRQGVRSLILTSG
TLAPVSSFALEMQIPFPVCLENPHIIDKHQIWVGVVPRGPDGAQLSSAFDRRFSEECLSS
LGKALGNIARVVPYGLLIFFPSYPVMEKSLEFWRARDLARKMEALKPLFVEPRSKGSFSE
TISAYYARVAAPGSTGATFLAVCRGKASEGLDFSDTNGRGVIVTGLPYPPRMDPRVVLKM
QFLDEMKGQGGAGGQFLSGQEWYRQQASRAVNQAIGRVIRHRQDYGAVFLCDHRFAFADA
RAQLPSWVRPHVRVYDNFGHVIRDVAQFFRVAERTMPAPAPRATAPSVRGEDAVSEAKSP
GPFFSTRKAKSLDLHVPSLKQRSSGSPAAGDPESSLCVEYEQEPVPARQRPRGLLAALEH
SEQRAGSPGEEQAHSCSTLSLLSEKRPAEEPRGGRKKIRLVSHPEEPVAGAQTDRAKLFM
VAVKQELSQANFATFTQALQDYKGSDDFAALAACLGPLFAEDPKKHNLLQGFYQFVRPHH
KQQFEEVCIQLTGRGCGYRPEHSIPRRQRAQPVLDPTGRTAPDPKLTVSTAAAQQLDPQE
HLNQGRPHLSPRPPPTGDPGSQPQWGSGVPRAGKQGQHAVSAYLADARRALGSAGCSQLL
AALTAYKQDDDLDKVLAVLAALTTAKPEDFPLLHRFSMFVRPHHKQRFSQTCTDLTGRPY
PGMEPPGPQEERLAVPPVLTHRAPQPGPSRSEKTGKTQSKISSFLRQRPAGTVGAGGEDA
GPSQSSGPPHGPAASEWGL
NT seq 3660 nt   +upstreamnt  +downstreamnt
atgcccaagatagtcctgaatggtgtgaccgtagacttccctttccagccctacaaatgc
caacaggagtacatgaccaaggtcctggaatgtctgcagcagaaggtgaatggcatcctg
gagagccctacgggtacagggaagacgctgtgcctgctgtgcaccacgctggcctggcga
gaacacctccgagacggcatctctgcccgcaagattgccgagagggcgcaaggagagctt
ttcccggatcgggccttgtcatcctggggcaacgctgctgctgctgctggagaccccata
gcttgctacacggacatcccaaagattatttacgcctccaggacccactcgcaactcaca
caggtcatcaacgagcttcggaacacctcctaccggcctaaggtgtgtgtgctgggctcc
cgggagcagctgtgcatccatcctgaggtgaagaaacaagagagtaaccatctacagatc
cacttgtgccgtaagaaggtggcaagtcgctcctgtcatttctacaacaacgtagaagaa
aaaagcctggagcaggagctggccagccccatcctggacattgaggacttggtcaagagc
ggaagcaagcacagggtgtgcccttactacctgtcccggaacctgaagcagcaagccgac
atcatattcatgccgtacaattacttgttggatgccaagagccgcagagcacacaacatt
gacctgaaggggacagtcgtgatctttgacgaagctcacaacgtggagaagatgtgtgaa
gaatcggcatcctttgacctgactccccatgacctggcttcaggactggacgtcatagac
caggtgctggaggagcagaccaaggcagcgcagcagggtgagccccacccggagttcagc
gcggactcccccagcccagggctgaacatggagctggaagacattgcaaagctgaagatg
atcctgctgcgcctggagggggccatcgatgctgttgagctgcctggagacgacagcggt
gtcaccaagccagggagctacatctttgagctgtttgctgaagcccagatcacgtttcag
accaagggctgcatcctggactcgctggaccagatcatccagcacctggcaggacgtgct
ggagtgttcaccaacacggccggactgcagaagctggcggacattatccagattgtgttc
agtgtggacccctccgagggcagccctggttccccagcagggctgggggccttacagtcc
tataaggtgcacatccatcctgatgctggtcaccggaggacggctcagcggtctgatgcc
tggagcaccactgcagccagaaagcgagggaaggtgctgagctactggtgcttcagtccc
ggccacagcatgcacgagctggtccgccagggcgtccgctccctcatccttaccagcggc
acgctggccccggtgtcctcctttgctctggagatgcagatccctttcccagtctgcctg
gagaacccacacatcatcgacaagcaccagatctgggtgggggtcgtccccagaggcccc
gatggagcccagttgagctccgcgtttgacagacggttttccgaggagtgcttatcctcc
ctggggaaggctctgggcaacatcgcccgcgtggtgccctatgggctcctgatcttcttc
ccttcctatcctgtcatggagaagagcctggagttctggcgggcccgcgacttggccagg
aagatggaggcgctgaagccgctgtttgtggagcccaggagcaaaggcagcttctccgag
accatcagtgcttactatgcaagggttgccgcccctgggtccaccggcgccaccttcctg
gcggtctgccggggcaaggccagcgaggggctggacttctcagacacgaatggccgtggt
gtgattgtcacgggcctcccgtaccccccacgcatggacccccgggttgtcctcaagatg
cagttcctggatgagatgaagggccagggtggggctgggggccagttcctctctgggcag
gagtggtaccggcagcaggcgtccagggctgtgaaccaggccatcgggcgagtgatccgg
caccgccaggactacggagctgtcttcctctgtgaccacaggttcgcctttgccgacgca
agagcccaactgccctcctgggtgcgtccccacgtcagggtgtatgacaactttggccat
gtcatccgagacgtggcccagttcttccgtgttgccgagcgaactatgccagcgccggcc
ccccgggctacagcacccagtgtgcgtggagaagatgctgtcagcgaggccaagtcgcct
ggccccttcttctccaccaggaaagctaagagtctggacctgcatgtccccagcctgaag
cagaggtcctcagggtcaccagctgccggggaccccgagagtagcctgtgtgtggagtat
gagcaggagccagttcctgcccggcagaggcccagggggctgctggccgccctggagcac
agcgaacagcgggcggggagccctggcgaggagcaggcccacagctgctccaccctgtcc
ctcctgtctgagaagaggccggcagaagaaccgcgaggagggaggaagaagatccggctg
gtcagccacccggaggagcccgtggctggtgcacagacggacagggccaagctcttcatg
gtggccgtgaagcaggagttgagccaagccaactttgccaccttcacccaggccctgcag
gactacaagggttccgatgacttcgccgccctggccgcctgtctcggccccctctttgct
gaggaccccaagaagcacaacctgctccaaggcttctaccagtttgtgcggccccaccat
aagcagcagtttgaggaggtctgtatccagctgacaggacgaggctgtggctatcggcct
gagcacagcattccccgaaggcagcgggcacagccggtcctggaccccactggaagaacg
gcgccggatcccaagctgaccgtgtccacggctgcagcccagcagctggacccccaagag
cacctgaaccagggcaggccccacctgtcgcccaggccacccccaacaggagaccctggc
agccaaccacagtgggggtctggagtgcccagagcagggaagcagggccagcacgccgtg
agcgcctacctggctgatgcccgcagggccctggggtccgcgggctgtagccaactcttg
gcagcgctgacagcctataagcaagacgacgacctcgacaaggtgctggctgtgttggcc
gccctgaccactgcaaagccagaggacttccccctgctgcacaggttcagcatgtttgtg
cgtccacaccacaagcagcgcttctcacagacgtgcacagacctgaccggccggccctac
ccgggcatggagccaccgggaccccaggaggagaggcttgccgtgcctcctgtgcttacc
cacagggctccccaaccaggcccctcacggtccgagaagaccgggaagacccagagcaag
atctcgtccttccttagacagaggccagcagggactgtgggggcgggcggtgaggatgca
ggtcccagccagtcctcaggacctccccacgggcctgcagcatctgagtggggcctctag

KEGG   Homo sapiens (human): 54386
Entry
54386             CDS       T01001                                 
Symbol
TERF2IP, DRIP5, RAP1
Name
(RefSeq) TERF2 interacting protein
  KO
K11113  telomeric repeat-binding factor 2-interacting protein 1
Organism
hsa  Homo sapiens (human)
Network
nt06510  Telomere length regulation
  Element
N01477  Telomere elongation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    54386 (TERF2IP)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Telomere proteins
    Shelterin complex
     54386 (TERF2IP)
SSDB
Motif
Pfam: Myb_Rap1 Rap1_C BRCT_2 TbpB_A HATPase_c_2
Other DBs
NCBI-GeneID: 54386
NCBI-ProteinID: NP_061848
OMIM: 605061
HGNC: 19246
Ensembl: ENSG00000166848
UniProt: Q9NYB0
Structure
LinkDB
Position
16:75647773..75657432
AA seq 399 aa
MAEAMDLGKDPNGPTHSSTLFVRDDGSSMSFYVRPSPAKRRLSTLILHGGGTVCRVQEPG
AVLLAQPGEALAEASGDFISTQYILDCVERNERLELEAYRLGPASAADTGSEAKPGALAE
GAAEPEPQRHAGRIAFTDADDVAILTYVKENARSPSSVTGNALWKAMEKSSLTQHSWQSL
KDRYLKHLRGQEHKYLLGDAPVSPSSQKLKRKAEEDPEAADSGEPQNKRTPDLPEEEYVK
EEIQENEEAVKKMLVEATREFEEVVVDESPPDFEIHITMCDDDPPTPEEDSETQPDEEEE
EEEEKVSQPEVGAAIKIIRQLMEKFNLDLSTVTQAFLKNSGELEATSAFLASGQRADGYP
IWSRQDDIDLQKDDEDTREALVKKFGAQNVARRIEFRKK
NT seq 1200 nt   +upstreamnt  +downstreamnt
atggcggaggcgatggatttgggcaaagaccccaacgggcccacccattcctcgactctg
ttcgtgagggacgacggcagctccatgtccttctacgtgcggcccagcccggccaagcgt
cggctgtcgacgctcatcctgcacggcggcggcaccgtgtgccgagtgcaggagcccggg
gccgtgctgctggcccagcccggggaggcgctggccgaggcctcgggtgatttcatctcc
acgcagtacatcctggactgcgtggagcgcaacgagaggctggagctggaggcctatcgg
ctgggccccgcctcggcggcggacaccggctcggaagcaaagcccggggccctggccgag
ggcgccgcggagccggagccgcagcggcacgccgggcggatcgccttcacggatgcggac
gacgtagccatccttacctacgtgaaggaaaatgcccgctcgcccagctccgtcaccggt
aacgccttgtggaaagcgatggagaagagctcgctcacgcagcactcgtggcagtccctg
aaggaccgctacctcaagcacctgcggggccaggagcataagtacctgctgggggacgcg
ccggtgagcccctcctcccagaagctcaagcggaaggcggaggaggacccggaggccgcg
gatagcggggaaccacagaataagagaactccagatttgcctgaagaagagtatgtgaag
gaagaaatccaggagaatgaagaagcagtcaaaaagatgcttgtggaagccacccgggag
tttgaggaggttgtggtggatgagagccctcctgattttgaaatacatataactatgtgt
gatgatgatccacccacacctgaggaagactcagaaacacagcctgatgaggaggaagaa
gaagaagaagaaaaagtttctcaaccagaggtgggagctgccattaagatcattcggcag
ttaatggagaagtttaacttggatctatcaacagttacacaggccttcctaaaaaatagt
ggtgagctggaggctacttccgccttcttagcgtctggtcagagagctgatggatatccc
atttggtcccgacaagatgacatagatttgcaaaaagatgatgaggataccagagaggca
ttggtcaaaaaatttggtgctcagaatgtagctcggaggattgaatttcgaaagaaataa

KEGG   Homo sapiens (human): 7014
Entry
7014              CDS       T01001                                 
Symbol
TERF2, TRBF2, TRF2
Name
(RefSeq) telomeric repeat binding factor 2
  KO
K11111  telomeric repeat-binding factor 2
Organism
hsa  Homo sapiens (human)
Network
nt06510  Telomere length regulation
  Element
N01477  Telomere elongation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    7014 (TERF2)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Telomere proteins
    Shelterin complex
     7014 (TERF2)
SSDB
Motif
Pfam: TRF TERF2_RBM Myb_DNA-binding Myb_DNA-bind_6 TMCO5 NUP160_helical HTH_Hrp3
Other DBs
NCBI-GeneID: 7014
NCBI-ProteinID: NP_005643
OMIM: 602027
HGNC: 11729
Ensembl: ENSG00000132604
UniProt: Q15554
Structure
LinkDB
Position
16:complement(69355567..69386007)
AA seq 542 aa
MAAGAGTAGPASGPGVVRDPAASQPRKRPGREGGEGARRSDTMAGGGGSSDGSGRAAGRR
ASRSSGRARRGRHEPGLGGPAERGAGEARLEEAVNRWVLKFYFHEALRAFRGSRYGDFRQ
IRDIMQALLVRPLGKEHTVSRLLRVMQCLSRIEEGENLDCSFDMEAELTPLESAINVLEM
IKTEFTLTEAVVESSRKLVKEAAVIICIKNKEFEKASKILKKHMSKDPTTQKLRNDLLNI
IREKNLAHPVIQNFSYETFQQKMLRFLESHLDDAEPYLLTMAKKALKSESAASSTGKEDK
QPAPGPVEKPPREPARQLRNPPTTIGMMTLKAAFKTLSGAQDSEAAFAKLDQKDLVLPTQ
ALPASPALKNKRPRKDENESSAPADGEGGSELQPKNKRMTISRLVLEEDSQSTEPSAGLN
SSQEAASAPPSKPTVLNQPLPGEKNPKVPKGKWNSSNGVEEKETWVEEDELFQVQAAPDE
DSTTNITKKQKWTVEESEWVKAGVQKYGEGNWAAISKNYPFVNRTAVMIKDRWRTMKRLG
MN
NT seq 1629 nt   +upstreamnt  +downstreamnt
atggccgcgggagccgggacggcgggccccgcttccggcccgggcgtcgtgcgtgaccca
gcggcgtcacagccgaggaagcggcccggccgggagggcggggagggcgcgcggcgatcg
gacacgatggcgggaggaggcgggagtagcgacggcagcgggcgggcagctggcaggcgg
gcgtcccgcagtagcgggcgggcccggcgggggcgccacgagccggggctggggggcccg
gcggagcgcggcgcgggggaggcacggctggaagaggcagtcaatcgctgggtgctcaag
ttctacttccacgaggcgctgcgggcctttcggggtagccggtacggggacttcagacag
atccgggacatcatgcaggctttgcttgtcaggcccttggggaaggagcacaccgtgtcc
cgattgctgcgggttatgcagtgtctgtcgcggattgaagaaggggaaaatttagactgt
tcctttgatatggaggctgagctcacaccactggaatcagctatcaatgtgctggagatg
attaaaacggaatttacactgacagaagcagtggtcgaatccagtagaaaactggtcaag
gaagctgctgtcattatttgtatcaaaaacaaagaatttgaaaaggcttcaaaaattttg
aaaaaacatatgtccaaggaccccacaactcagaagctgagaaatgatctcctgaatatt
attcgagaaaagaacttggcccatcctgttatccagaacttttcatatgagaccttccag
cagaagatgctgcgcttcctggagagccacctggatgacgccgagccctacctcctcacg
atggccaaaaaggctttgaaatctgagtccgctgcctcaagtacagggaaggaagataaa
cagccagcaccagggcctgtggaaaagccacccagagaacccgcaaggcagctacggaat
cctccaaccaccattggaatgatgactctgaaagcagctttcaagactctgtctggtgca
caggattctgaggcagcctttgcaaaactggaccagaaggatctggttcttcctactcaa
gctctcccagcatcaccagccctcaaaaacaagagacccagaaaagatgaaaacgaaagt
tcagccccggctgacggtgagggtggctcggaactgcagcccaagaacaagcgcatgaca
ataagcagattggtcttggaggaggacagccagagtactgagcccagcgcaggcctcaac
tcctcccaggaggccgcttcagcgccaccatccaagcccaccgttctcaaccaacccctc
cctggagagaagaatcccaaagtacccaaaggcaagtggaacagctctaatggggttgaa
gaaaaggagacttgggtggaagaggatgaactgtttcaagttcaggcagcaccagatgaa
gacagtacaaccaatataacaaaaaagcagaagtggactgtagaagaaagcgagtgggtc
aaggctggagtgcagaaatatggggaaggaaactgggctgccatttctaaaaattaccca
tttgttaaccgaacagctgtgatgattaaggatcgctggcggaccatgaaaagacttggc
atgaactga

KEGG   Homo sapiens (human): 26277
Entry
26277             CDS       T01001                                 
Symbol
TINF2, DKCA3, DKCA5, TIN2
Name
(RefSeq) TERF1 interacting nuclear factor 2
  KO
K11112  TERF1-interacting nuclear factor 2
Organism
hsa  Homo sapiens (human)
Network
nt06510  Telomere length regulation
  Element
N01477  Telomere elongation
Disease
H00507  Dyskeratosis congenita
H00921  Revesz syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    26277 (TINF2)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Telomere proteins
    Shelterin complex
     26277 (TINF2)
SSDB
Motif
Pfam: TINF2_N
Other DBs
NCBI-GeneID: 26277
NCBI-ProteinID: NP_001092744
OMIM: 604319
HGNC: 11824
Ensembl: ENSG00000092330
UniProt: Q9BSI4
Structure
LinkDB
Position
14:complement(24239640..24242674)
AA seq 451 aa
MATPLVAGPAALRFAAAASWQVVRGRCVEHFPRVLEFLRSLRAVAPGLVRYRHHERLCMG
LKAKVVVELILQGRPWAQVLKALNHHFPESGPIVRDPKATKQDLRKILEAQETFYQQVKQ
LSEAPVDLASKLQELEQEYGEPFLAAMEKLLFEYLCQLEKALPTPQAQQLQDVLSWMQPG
VSITSSLAWRQYGVDMGWLLPECSVTDSVNLAEPMEQNPPQQQRLALHNPLPKAKPGTHL
PQGPSSRTHPEPLAGRHFNLAPLGRRRVQSQWASTRGGHKERPTVMLFPFRNLGSPTQVI
SKPESKEEHAIYTADLAMGTRAASTGKSKSPCQTLGGRALKENPVDLPATEQKENCLDCY
MDPLRLSLLPPRARKPVCPPSLCSSVITIGDLVLDSDEEENGQGEGKESLENYQKTKFDT
LIPTLCEYLPPSGHGAIPVSSCDCRDSSRPL
NT seq 1356 nt   +upstreamnt  +downstreamnt
atggctacgcccctggtggcgggtcccgcagctctacgcttcgccgccgcggctagctgg
caggttgtgcgcggacgctgcgtggaacattttccgcgagtactggagtttctgcgatct
ctgcgcgctgttgcccctggcttggttcgctaccggcaccacgaacgcctttgtatgggc
ctaaaggccaaggtggtggtggagctgatcctgcagggccggccttgggcccaagtcctg
aaagccctgaatcaccactttccagaatctggacctatagtgcgggatcccaaggctaca
aagcaggatctgaggaagattttggaggcacaggaaactttttaccagcaggtgaagcag
ctgtcagaggctcctgtggatttggcctcgaagctgcaggaacttgaacaagagtatggg
gaaccctttctggctgccatggaaaagctgctttttgagtacttgtgtcagctggagaaa
gcactgcctacaccgcaggcacagcagcttcaggatgtgctgagttggatgcagcctgga
gtctctatcacctcttctcttgcctggagacaatatggtgtggacatggggtggctgctt
ccagagtgctctgttactgactcagtgaacctggctgagcccatggaacagaatcctcct
cagcaacaaagactagcactccacaatcccctgccaaaagccaagcctggcacacatctt
cctcagggaccatcttcaaggacgcacccagaacctctagctggccgacacttcaatctg
gcccctctaggccgacgaagagttcagtcccaatgggcctccactaggggaggccataag
gagcgccccacagtcatgctgtttccctttaggaatctcggctcaccaacccaggtcata
tctaagcctgagagcaaggaagaacatgcgatatacacagcagacctagccatgggcaca
agagcagcctccactgggaagtctaagagtccatgccagaccctggggggaagggctctg
aaggagaacccagttgacttgcctgccacagagcaaaaggagaattgcttggattgctac
atggaccccctgagactatcattattacctcctagggccaggaagccagtgtgtcctccg
tctctgtgcagctccgtcattaccataggggacttggttttagactctgatgaggaagaa
aatggccagggggaaggaaaggaatctctggaaaactatcagaagacaaagtttgacacc
ttgatacccactctctgtgaatacctacccccttctggccacggtgccatacctgtttct
tcctgtgactgtagagacagttctagacctttgtga

KEGG   Homo sapiens (human): 7013
Entry
7013              CDS       T01001                                 
Symbol
TERF1, PIN2, TRBF1, TRF, TRF1, hTRF1-AS, t-TRF1
Name
(RefSeq) telomeric repeat binding factor 1
  KO
K11110  telomeric repeat-binding factor 1
Organism
hsa  Homo sapiens (human)
Network
nt06510  Telomere length regulation
  Element
N01477  Telomere elongation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    7013 (TERF1)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Telomere proteins
    Shelterin complex
     7013 (TERF1)
SSDB
Motif
Pfam: TRF Myb_DNA-binding Myb_DNA-bind_6 HTH_Hrp3 TPR_14 PPR
Other DBs
NCBI-GeneID: 7013
NCBI-ProteinID: NP_059523
OMIM: 600951
HGNC: 11728
Ensembl: ENSG00000147601
UniProt: P54274
Structure
LinkDB
Position
8:73008864..73048123
AA seq 439 aa
MAEDVSSAAPSPRGCADGRDADPTEEQMAETERNDEEQFECQELLECQVQVGAPEEEEEE
EEDAGLVAEAEAVAAGWMLDFLCLSLCRAFRDGRSEDFRRTRNSAEAIIHGLSSLTACQL
RTIYICQFLTRIAAGKTLDAQFENDERITPLESALMIWGSIEKEHDKLHEEIQNLIKIQA
IAVCMENGNFKEAEEVFERIFGDPNSHMPFKSKLLMIISQKDTFHSFFQHFSYNHMMEKI
KSYVNYVLSEKSSTFLMKAAAKVVESKRTRTITSQDKPSGNDVEMETEANLDTRKSVSDK
QSAVTESSEGTVSLLRSHKNLFLSKLQHGTQQQDLNKKERRVGTPQSTKKKKESRRATES
RIPVSKSQPVTPEKHRARKRQAWLWEEDKNLRSGVRKYGEGNWSKILLHYKFNNRTSVML
KDRWRTMKKLKLISSDSED
NT seq 1320 nt   +upstreamnt  +downstreamnt
atggcggaggatgtttcctcagcggccccgagcccgcggggctgtgcggatggtagggat
gccgaccctactgaggagcagatggcagaaacagagagaaacgacgaggagcagttcgaa
tgccaggaactgctcgagtgccaggtgcaggtgggggcccccgaggaggaggaggaggag
gaggaggacgcgggcctggtggccgaggccgaggccgtggctgccggctggatgctcgat
ttcctctgcctctctctttgccgagctttccgcgacggccgctccgaggacttccgcagg
acccgcaacagcgcagaggctattattcatggactatccagtctaacagcttgccagttg
agaacgatatacatatgtcagtttttgacaagaattgcagcaggaaaaacccttgatgca
cagtttgaaaatgatgaacgaattacacccttggaatcagccctgatgatttggggttca
attgaaaaggaacatgacaaacttcatgaagaaatacagaatttaattaaaattcaggct
atagctgtttgtatggaaaatggcaactttaaagaagcagaagaagtctttgaaagaata
tttggtgatccaaattctcatatgcctttcaaaagcaaattgcttatgataatctctcag
aaagatacatttcattccttttttcaacacttcagctacaaccacatgatggagaaaatt
aagagttatgtgaattatgtgctaagtgaaaaatcatcaacctttctaatgaaggcagcg
gcaaaagtagtagaaagcaaaaggacaagaacaataacttctcaagataaacctagtggt
aatgatgttgaaatggaaactgaagctaatttggatacaagaaaaagtgttagtgacaaa
cagtctgcggtaactgaatcctcagagggtacagtatccttattgaggtctcacaagaat
cttttcttatctaagttgcaacatggaacccagcaacaagaccttaataagaaagaaaga
agagtaggaactcctcaaagtacaaaaaagaaaaaagaaagcagaagagccactgaaagc
agaatacctgtttcaaagagtcagccggtaactcctgaaaaacatcgagctagaaaaaga
caggcatggctttgggaagaagacaagaatttgagatctggcgtgaggaaatatggagag
ggaaactggtctaaaatactgttgcattataaattcaacaaccggacaagtgtcatgtta
aaagacagatggaggaccatgaagaaactaaaactgatttcctcagacagcgaagactga

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
LinkDB
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

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
LinkDB
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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