Homo sapiens (human): 6103
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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
H03005
X-linked atrophic macular degeneration
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
WD40_RLD
RCC1
RCC1_2
Alsin_RLD
Kelch_KLHDC2_KLHL20_DRC7
Motif
Other DBs
NCBI-GeneID:
6103
NCBI-ProteinID:
NP_001030025
OMIM:
312610
HGNC:
10295
Ensembl:
ENSG00000156313
UniProt:
Q92834
Structure
PDB
PDBj
LinkDB
All DBs
Position
X:complement(38269163..38327509)
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AA seq
1152 aa
AA seq
DB search
MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFG
SNNWGQLGLGSKSAISKPTCVKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLG
LGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGRLFMWGDNSEGQIGLKNVSNV
CVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLPNQLLGNHRTPQLVSE
IPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYI
SCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCH
MVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGNVLQRTLSARMRRRERERSPD
SFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTK
EAEIDNSSTVESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTE
NDDSDEYEEMSEMKEGKACKQHVSQGIFMTQPATTIEAFSDEEVEIPEEKEGAEDSKGNG
IEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEVSEGKAKSVGEAEDGPEGRGDGTCE
EGSSGAEHWQDEEREKGEKDKGRGEMERPGEGEKELAEKEEWKKRDGEEQEQKEREQGHQ
KERNQEMEEGGEEEHGEGEEEEGDREEEEEKEGEGKEEGEGEEVEGEREKEEGERKKEER
AGKEEKGEEEGDQGEGEEEETEGRGEEKEEGGEVEGGEVEEGKGEREEEEEEGEGEEEEG
EGEEEEGEGEEEEGEGKGEEEGEEGEGEEEGEEGEGEGEEEEGEGEGEEEGEGEGEEEEG
EGEGEEEGEGEGEEEEGEGKGEEEGEEGEGEGEEEEGEGEGEDGEGEGEEEEGEWEGEEE
EGEGEGEEEGEGEGEEGEGEGEEEEGEGEGEEEEGEEEGEEEGEGEEEGEGEGEEEEEGE
VEGEVEGEEGEGEGEEEEGEEEGEEREKEGEGEENRRNREEEEEEEGKYQETGEEENERQ
DGEEYKKVSKIKGSVKYGKHKTYQKKSVTNTQGNGKEQRSKMPVQSKRLLKNGPSGSKKF
WNNVLPHYLELK
NT seq
3459 nt
NT seq
+upstream
nt +downstream
nt
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
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