KEGG   Homo sapiens (human): 6103
Entry
6103              CDS       T01001                                 
Symbol
RPGR, COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15
Name
(RefSeq) retinitis pigmentosa GTPase regulator
  KO
K19607  X-linked retinitis pigmentosa GTPase regulator
Organism
hsa  Homo sapiens (human)
Disease
H00481  Cone-rod dystrophy and cone dystrophy
H00527  Retinitis pigmentosa
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    6103 (RPGR)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   6103 (RPGR)
SSDB
Motif
Pfam: RCC1 RCC1_2
Other DBs
NCBI-GeneID: 6103
NCBI-ProteinID: NP_001030025
OMIM: 312610
HGNC: 10295
Ensembl: ENSG00000156313
UniProt: Q92834
Structure
Position
X:complement(38269163..38327509)
AA seq 1152 aa
MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFG
SNNWGQLGLGSKSAISKPTCVKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLG
LGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGRLFMWGDNSEGQIGLKNVSNV
CVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLPNQLLGNHRTPQLVSE
IPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYI
SCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCH
MVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGNVLQRTLSARMRRRERERSPD
SFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTK
EAEIDNSSTVESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTE
NDDSDEYEEMSEMKEGKACKQHVSQGIFMTQPATTIEAFSDEEVEIPEEKEGAEDSKGNG
IEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEVSEGKAKSVGEAEDGPEGRGDGTCE
EGSSGAEHWQDEEREKGEKDKGRGEMERPGEGEKELAEKEEWKKRDGEEQEQKEREQGHQ
KERNQEMEEGGEEEHGEGEEEEGDREEEEEKEGEGKEEGEGEEVEGEREKEEGERKKEER
AGKEEKGEEEGDQGEGEEEETEGRGEEKEEGGEVEGGEVEEGKGEREEEEEEGEGEEEEG
EGEEEEGEGEEEEGEGKGEEEGEEGEGEEEGEEGEGEGEEEEGEGEGEEEGEGEGEEEEG
EGEGEEEGEGEGEEEEGEGKGEEEGEEGEGEGEEEEGEGEGEDGEGEGEEEEGEWEGEEE
EGEGEGEEEGEGEGEEGEGEGEEEEGEGEGEEEEGEEEGEEEGEGEEEGEGEGEEEEEGE
VEGEVEGEEGEGEGEEEEGEEEGEEREKEGEGEENRRNREEEEEEEGKYQETGEEENERQ
DGEEYKKVSKIKGSVKYGKHKTYQKKSVTNTQGNGKEQRSKMPVQSKRLLKNGPSGSKKF
WNNVLPHYLELK
NT seq 3459 nt   +upstreamnt  +downstreamnt
atgagggagccggaagagctgatgcccgattcgggtgctgtgtttacatttgggaaaagt
aaatttgctgaaaataatcccggtaaattctggtttaaaaatgatgtccctgtacatctt
tcatgtggagatgaacattctgctgttgttaccggaaataataaactttacatgtttggc
agtaacaactggggtcagttaggattaggatcaaagtcagccatcagcaagccaacatgt
gtcaaagctctaaaacctgaaaaagtgaaattagctgcctgtggaaggaaccacaccctg
gtgtcaacagaaggaggcaatgtatatgcaactggtggaaataatgaaggacagttgggg
cttggtgacaccgaagaaagaaacacttttcatgtaattagcttttttacatccgagcat
aagattaagcagctgtctgctggatctaatacttcagctgccctaactgaggatggaaga
ctttttatgtggggtgacaattccgaagggcaaattggtttaaaaaatgtaagtaatgtc
tgtgtccctcagcaagtgaccattgggaaacctgtctcctggatctcttgtggatattac
cattcagcttttgtaacaacagatggtgagctatatgtgtttggagaacctgagaatggg
aagttaggtcttcccaatcagctcctgggcaatcacagaacaccccagctggtgtctgaa
attccggagaaggtgatccaagtagcctgtggtggagagcatactgtggttctcacggag
aatgctgtgtatacctttgggctgggacaatttggtcagctgggtcttggcacttttctt
tttgaaacttcagaacccaaagtcattgagaatattagggatcaaacaataagttatatt
tcttgtggagaaaatcacacagctttgataacagatatcggccttatgtatacttttgga
gatggtcgccacggaaaattaggacttggactggagaattttaccaatcacttcattcct
actttgtgctctaattttttgaggtttatagttaaattggttgcttgtggtggatgtcac
atggtagtttttgctgctcctcatcgtggtgtggcaaaagaaattgaattcgatgaaata
aatgatacttgcttatctgtggcgacttttctgccgtatagcagtttaacctcaggaaat
gtactgcagaggactctatcagcacgtatgcggcgaagagagagggagaggtctccagat
tctttttcaatgaggagaacactacctccaatagaagggactcttggcctttctgcttgt
tttctccccaattcagtctttccacgatgttctgagagaaacctccaagagagtgtctta
tctgaacaggacctcatgcagccagaggaaccagattatttgctagatgaaatgaccaaa
gaagcagagatagataattcttcaactgtagaaagccttggagaaactactgatatctta
aacatgacacacatcatgagcctgaattccaatgaaaagtcattaaaattatcaccagtt
cagaaacaaaagaaacaacaaacaattggggaactgacgcaggatacagctcttactgaa
aacgatgatagtgatgaatatgaagaaatgtcagaaatgaaagaagggaaagcatgtaaa
caacatgtgtcacaagggattttcatgacgcagccagctacgactatcgaagcattttca
gatgaggaagtagagatcccagaggagaaggaaggagcagaggattcaaaaggaaatgga
atagaggagcaagaggtagaagcaaatgaggaaaatgtgaaggtgcatggaggaagaaag
gagaaaacagagatcctatcagatgaccttacagacaaagcagaggtgagtgaaggcaag
gcaaaatcagtgggagaagcagaggatgggcctgaaggtagaggggatggaacctgtgag
gaaggtagttcaggagcagaacactggcaagatgaggagagggagaagggggagaaagac
aagggtagaggagaaatggagaggccaggagagggagagaaggaactagcagagaaggaa
gaatggaagaagagggatggggaagagcaggagcaaaaggagagggagcagggccatcag
aaggaaagaaaccaagagatggaggagggaggggaggaggagcatggagaaggagaagaa
gaggagggagacagagaagaggaagaagagaaggagggagaagggaaagaggaaggagaa
ggggaagaagtggagggagaacgtgaaaaggaggaaggagagaggaaaaaggaggaaaga
gcggggaaggaggagaaaggagaggaagaaggagaccaaggagagggggaagaggaggaa
acagaggggagaggggaggaaaaagaggagggaggggaagtagagggaggggaagtagag
gaggggaaaggagagagggaagaggaagaggaggagggtgagggggaagaggaggaaggg
gagggggaagaggaggaaggggagggggaagaggaggaaggagaagggaaaggggaggaa
gaaggggaagaaggagaaggggaggaagaaggggaggaaggagaaggggagggggaagag
gaggaaggagaaggggagggagaagaggaaggagaaggggagggagaagaggaggaagga
gaaggggagggagaagaggaaggagaaggggagggagaagaggaggaaggagaagggaaa
ggggaggaggaaggagaggaaggagaaggggagggggaagaggaggaaggagaaggggaa
ggggaggatggagaaggggagggggaagaggaggaaggagaatgggagggggaagaggag
gaaggagaaggggagggggaagaggaaggagaaggggaaggggaggaaggagaaggggag
ggggaagaggaggaaggagaaggggagggggaagaggaggaaggggaagaagaaggggag
gaagaaggagagggagaggaagaaggggagggagaaggggaggaagaagaggaaggggaa
gtggaaggggaggtggaaggggaggaaggagagggggaaggagaggaagaggaaggagag
gaggaaggagaagaaagggaaaaggagggggaaggagaagaaaacaggaggaacagagaa
gaggaggaggaagaagaggggaagtatcaggagacaggcgaagaagagaatgaaaggcag
gatggagaggagtacaaaaaagtgagcaaaataaaaggatctgtgaaatatggcaaacat
aaaacatatcaaaaaaagtcagttactaacacacagggaaatgggaaagagcagaggtcc
aaaatgccagtccagtcaaaacgacttttaaaaaacgggccatcaggttccaaaaagttc
tggaataatgtattaccacattacttggaattgaagtaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (7)   
   KEGG DISEASE (2)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (588)   
   KEGG ORTHOLOGY (1)   
   RefGene (580)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (17)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (15)   
DNA sequence (64)   
   RefSeq(nuc) (24)   
   GenBank (20)   
   EMBL (20)   
3D Structure (3)   
   PDB (3)   
Protein domain (2)   
   Pfam (2)   
All databases (684)   

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