KEGG   Homo sapiens (human): 286262
Entry
286262            CDS       T01001                                 
Symbol
TPRN, C9orf75, DFNB79
Name
(RefSeq) taperin
  KO
K24164  taperin
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    286262 (TPRN)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   Other DSBR factors
    Others
     286262 (TPRN)
SSDB
Motif
Pfam: Phostensin Phostensin_N MAM33 CCD97-like_C
Other DBs
NCBI-GeneID: 286262
NCBI-ProteinID: NP_001121700
OMIM: 613354
HGNC: 26894
Ensembl: ENSG00000176058
UniProt: Q4KMQ1
Structure
Position
9:complement(137191619..137200741)
AA seq 711 aa
MAALGRPGSGPRAAVPAWKREILERKRAKLAALGGGAGPGAAEPEQRVLAESLGPLRENP
FMLLEAERRRGGGAAGARLLERYRRVPGVRALRADSVLIIETVPGFPPAPPAPGAAQIRA
AEVLVYGAPPGRVSRLLERFDPPAAPRRRGSPERARPPPPPPPPAPPRPPPAAPSPPAAP
GPRGGGASPGARRSDFLQKTGSNSFTVHPRGLHRGAGARLLSNGHSAPEPRAGPANRLAG
SPPGSGQWKPKVESGDPSLHPPPSPGTPSATPASPPASATPSQRQCVSAATSTNDSFEIR
PAPKPVMETIPLGDLQARALASLRANSRNSFMVIPKSKASGAPPPEGRQSVELPKGDLGP
ASPSQELGSQPVPGGDGAPALGKSPLEVEAQWAVEEGACPRTATALADRAIRWQRPSSPP
PFLPAASEEAEPAEGLRVPGLAKNSREYVRPGLPVTFIDEVDSEEAPQAAKLPYLPHPAR
PLHPARPGCVAELQPRGSNTFTVVPKRKPGTLQDQHFSQANREPRPREAEEEEASCLLGP
TLKKRYPTVHEIEVIGGYLALQKSCLTKAGSSRKKMKISFNDKSLQTTFEYPSESSLEQE
EEVDQQEEEEEEEEEEEEEEEGSGSEEKPFALFLPRATFVSSVRPESSRLPEGSSGLSSY
TPKHSVAFSKWQEQALEQAPREAEPPPVEAMLTPASQNDLSDFRSEPALYF
NT seq 2136 nt   +upstreamnt  +downstreamnt
atggccgccctggggcggccgggctcggggccgcgcgctgcggtgcccgcttggaagcgt
gagatcctggagcggaagcgggccaagctagccgcgctgggcgggggcgcggggcccggg
gcggcggagcccgagcagcgggtgctggccgagagcctgggcccgctgcgcgagaacccg
ttcatgctgctggaggccgagcggcggcgcggcgggggcgcggcgggggcgcggctgctg
gagcggtaccgccgcgtgcctggcgtgcgcgccctccgcgccgacagcgtcctcatcatc
gagacggtgcccggcttcccgcccgcgccgcccgccccgggggccgcgcagatccgcgcc
gccgaggtgctggtgtacggggcgccgcccggccgcgtcagccgcctactggagaggttc
gacccgcccgccgcgccgcgccgccgcgggagccccgagcgcgcccgccccccgccgccg
ccgccgccgcccgcgccgccccggcccccgcccgcggcccccagcccgcccgccgcgccc
gggccccgcggtggcggggcgagccccggggcccggcgcagcgacttcctccagaagacc
ggcagcaactccttcaccgtccacccccggggtctgcaccgcggcgcgggcgcccgcctg
ctctccaacgggcactcggcccctgagccccgggccggccctgccaaccgcctcgcgggc
tccccgcctgggtcgggacagtggaagccaaaggtggagtcgggggatccctccctccac
ccgccccccagccccgggaccccgagtgccactccagcctcaccccctgccagtgccact
cctagccagcgccagtgcgtctccgcagccaccagcaccaacgactccttcgagatacgg
ccggcccccaagccagttatggagaccatccccttgggggacctccaggcccgggcgctg
gccagcctccgcgcaaactctcgaaattctttcatggtcatccccaagagcaaggcctcc
ggggctcctcctcctgaggggaggcagtccgtggagctgccaaagggagacctgggcccg
gcctccccgagccaggagctcggatcccagccggtgcctggaggggatggtgcgcctgcc
ctcgggaagagccccctggaggtcgaggcacagtgggcagtcgaggagggggcctgtccc
aggacagccaccgccctcgctgaccgggctattaggtggcagaggccgtcctcaccgccc
cccttcctgccggctgcttcggaagaagctgagcctgctgagggcctcagggttcctggc
ttggccaagaatagccgggaatatgtgaggccggggctgcctgtcaccttcatcgatgag
gtagactcggaggaggccccccaagcagccaaactaccctacctcccgcaccctgccagg
cctctgcaccctgccaggcccgggtgcgtggcagagcttcagccccggggcagcaacacc
ttcacagtggtgcccaagaggaagccagggactctgcaggaccagcacttcagtcaggcc
aacagggagcctcggccacgggaggccgaggaggaggaggctagttgcctcctggggccc
acgttgaagaagcgctaccccaccgtgcatgagatcgaggtgattggcggctacctggcc
ctgcagaagtcctgcctcaccaaggctggctcctcaagaaagaagatgaagatctccttc
aacgacaaaagcctgcagaccacatttgagtacccttccgagagctccctagagcaggag
gaagaggtggaccagcaggaggaggaggaggaggaggaggaggaagaggaagaggaggaa
gagggatccggctcagaggagaagccctttgcactcttcctgccccgggccacgtttgtg
agcagcgtgagacccgagagctctcggctgccagagggtagctcaggcctgtccagctac
accccgaagcactctgtggccttcagcaagtggcaggagcaggcgctggagcaggccccg
agggaggcagagcccccgcccgtggaggccatgctcacacccgccagtcagaatgacctc
tcggacttccgcagcgagccagccctgtatttctga

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (49)   
   KEGG ORTHOLOGY (1)   
   RefGene (39)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (20)   
   RefSeq(nuc) (2)   
   GenBank (9)   
   EMBL (9)   
3D Structure (1)   
   PDB (1)   
Protein domain (4)   
   Pfam (4)   
All databases (83)   

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