| Nomenclature | Genomic Location |
| Symbol | Pde6b | Chromosome | 1 |
| Name | Phosphodiesterase 6B,
cGMP-specific, rod, beta | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | 1: 63 Mbp |
| Molecular Function |
|
This protein participates in processes of transmission and amplification of the visual signal.
Necessary for the formation of a functional phosphodiesterase holoenzyme.
Molecular Function Terms:
catalytic activity
hydrolase activity
hydrolase activity, acting on ester bonds
phosphoric ester hydrolase activity
phosphoric diester hydrolase activity
cyclic-nucleotide phosphodiesterase activity
|
| Human Disease Association |
|
Defects in PDE6B are the cause of retinitis pigmentosa type 40 (RP40) [MIM:613801]. RP40 is a retinal
dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized
by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells
followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and
loss of midperipheral visual field. As their condition progresses, they lose their far peripheral
visual field and eventually central vision as well.
Defects in PDE6B are a cause of congenital stationary night blindness autosomal dominant type 2
(CSNBAD2) [MIM:163500]; also known as congenital stationary night blindness Rambusch type. Congenital
stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision.
|
1 ATGAGTGTTAACAAAGATGAAGTCGAAACATTCCTGGATAACAACCTGGATTTTGCCAAG
61 CAGTATTTTGAGAGGAAACTGGGAGACAAAACCCTGTGTGCCACAGCAAGCTTCCATCAA
121 TGCTCAGAAGATGGTGTGGACTTTGGAGGGCTGGGCCAGAATGAGACCGAAACCCTATTT
181 GAGCTGATACAAGACATGCAAGAAAGCATCAACATGGAGAAAGTGGTCTTCAAGACCCTG
241 AAAAGGATCAGTGTTCTCATACAAGCGGATTGCTGCAGCCTCTTCATGTACAGGCAGCGT
301 AACGGCACCCCTGAGCTGGCAACTCGGCTGTTCAATATCCGTAAGGACAGCACAATGGAA
361 GAATCCCTGGTAGCCCCGGACTGTGAAATTGTTTTCCCTTTGGATATGGGGATAGTGGGT
421 TATGTAGCCCAGAATAAGAAGACTGTGAACATCCAAAATGTTGACGAGTGTGACTATTTT
481 AGCACTTTTGTTGATGAACTCACTGGCTACACTACAAGGAACGTCCTTGCCACACCAATC
541 ATGAACGGCAAAGAGGTGGTTGCTGTAATCATGGCAGTGAATAAGAGTGGAGCTCAATTT
601 TTCAGCAGTGCAGATGAAAATCTTTTCCTGAAGTATCTTAATTTTGCTGCTTTGAATCTG
661 AAAATTTATCATCTGAGCTACCTTCACAATTGTGAAACGCGAAGAGGTCAGGTTTTGCTG
721 TGGTCAGCGAATAAAGTATTTGAAGAATTAACTGATATTGAGAGGCAATTCCACAAAGCA
781 TTTTACACAGTCAGAGCATATTTGAACTGTGACAGGTATTCTGTAGGCCTTCTGGATATG
841 AGCAAACAAAAGGAGTTTTTTGACTTGTGGCCAGTACTCATGGGTGAAGTTCCACCATAT
901 TCCGGTCCTCGAACTCCAGATGGAAGAGAGATTGCATTTTATAAAGTCATTGATTATATC
961 TTACATGGAAAGGAAGACATTAAAGTTATCCCTAATCCTAAACCAGAACACTGGGCCCTG
1021 GTTAGTGGACTCCCAACCTATGTAGCAGAAACTGGTTTTATTTGCAACATTATGAATGCA
1081 GCATCAGATGAAATGTTTGCATTTCAGGAAGGTCCTGTTGATGAATCAGGTTGGGTCATC
1141 AAAAATGTTCTCTCCATGCCAATAGTCAACAAAAAAGAAGAAATTGTTGGAGTTGCTACC
1201 TTTTACAATAGGAAAGATGGGAAACCCTTTGATGAACAGGATGAAATATTAATGGAGTCT
1261 CTGACGCAGTTTCTTGGGTGGTCTGTGCTCAATACCGATACTTACGATAAGATGAACAAA
1321 CTGGAATATCGAAAAGACATTGCACAGGATATGGTGCTGTACCATATAAAATGTGACAAG
1381 AATGAAATTCAAGCAATCCTGCCCACACGAGAAAAACTTGGAAAAGAAGTGTCTGAATGT
1441 GATGAGGAAGAGTTGGCGGCAATTCTGAAGGAACAGCTCCCAGATCCTGAAGAATATGAA
1501 ATCTATCACTTTCACTTTTCTGACTTGGAATGGACTGAATTTGACCTTGTGAAATGTGGC
1561 ATCCAAATGTACTATGAACTTGGAGTGGTGAAAAAATTTCAGATTCCACAGGAAGTGCTG
1621 GTGAGATTCATTTTTTCAGTCAGCAAGGGGTATAGAAAAATCACTTATCACAACTGGCGC
1681 CATGGCTTCAACGTTGCACAGACCATGTTCACACTTCTTATGACAGGCAAACTGAAACAA
1741 TACTACACAGATCTTGAAGCACTGGCTATGGTTACTGCAGCTCTGTGTCATGATATTGAT
1801 CATCGAGGAACCAACAATCTTTATCAGATGAAATCTCAACATCCCTTAGCAAAACTTCAC
1861 GGCTCATCAATTTTAGAGAGACATCACTTGGAATTTGGCAAATTCCTGCTTTCAGAAGAG
1921 TCCTTGAACATTTATCAGAATCTCAACAGGAGGCAATTTGAGCACGTGAATAATTTGATG
1981 GATATTGCCATTATAGCTACTGACTTAGCACTGTACTTCAAAAAAAGAACCATGTTTCAG
2041 AAAATCGTTGATGAATCCAAAACCTATGACAATGAGAAAGAGTGGGCTGAATATTTGTCT
2101 CTGGAAGCAACAAAGAAAGAGATTATCATGGCTATGATGATGACTGCTTGTGACTTATCT
2161 GGTATCGCAAAACCATGGGAAGTGCAGAGTAAGGTGGCATTGCTTGTAGCAGCTGAGTTC
2221 TGGGAACAGGGAGACTTGGAGATATCTGTACTTCAGCAACAACCTATTCCAATGATGGAC
2281 AGAAGAAAAGCTGCTGAACTTCCAAAACTTCAAGTTGGGTTCATTGACTTTGTGTGCACA
2341 TTTGTATACAAGGAATTTTCACGTTTCCATCCACAAATTCAGCCAATGTACGAGCGACTG
2401 TTGAACAACAGAAAAGAGTGGAAGGCCCTGGCTGATGATTACGATGCAAACATGAAAGCT
2461 TTAGAAGAAAAACGAAAGGAAGAAGAGGCGAAAACAGTTAATAGTAAAGGTGCCATACTA
2521 ACTTGCAATGGAGAAAGTGTTCCCCCATCTTCAACATGTTGCATAATTTAA
| Predicted Protein Product |
MSVNKDEVETFLDNNLDFAKQYFERKLGDKTLCATASFHQCSEDGVDFGGLGQNETETLF
ELIQDMQESINMEKVVFKTLKRISVLIQADCCSLFMYRQRNGTPELATRLFNIRKDSTME
ESLVAPDCEIVFPLDMGIVGYVAQNKKTVNIQNVDECDYFSTFVDELTGYTTRNVLATPI
MNGKEVVAVIMAVNKSGAQFFSSADENLFLKYLNFAALNLKIYHLSYLHNCETRRGQVLL
WSANKVFEELTDIERQFHKAFYTVRAYLNCDRYSVGLLDMSKQKEFFDLWPVLMGEVPPY
SGPRTPDGREIAFYKVIDYILHGKEDIKVIPNPKPEHWALVSGLPTYVAETGFICNIMNA
ASDEMFAFQEGPVDESGWVIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEILMES
LTQFLGWSVLNTDTYDKMNKLEYRKDIAQDMVLYHIKCDKNEIQAILPTREKLGKEVSEC
DEEELAAILKEQLPDPEEYEIYHFHFSDLEWTEFDLVKCGIQMYYELGVVKKFQIPQEVL
VRFIFSVSKGYRKITYHNWRHGFNVAQTMFTLLMTGKLKQYYTDLEALAMVTAALCHDID
HRGTNNLYQMKSQHPLAKLHGSSILERHHLEFGKFLLSEESLNIYQNLNRRQFEHVNNLM
DIAIIATDLALYFKKRTMFQKIVDESKTYDNEKEWAEYLSLEATKKEIIMAMMMTACDLS
GIAKPWEVQSKVALLVAAEFWEQGDLEISVLQQQPIPMMDRRKAAELPKLQVGFIDFVCT
FVYKEFSRFHPQIQPMYERLLNNRKEWKALADDYDANMKALEEKRKEEEAKTVNSKGAIL
TCNGESVPPSSTCCII
| Protein Alignment to Mouse |
sp|P23440|PDE6B_MOUSE Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit
beta OS=Mus musculus GN=Pde6b PE=2 SV=3
MGI:97525 Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide (Chr 5)
Length = 856
Score = 3496 (1235.7 bits), Expect = 0., P = 0.
Identities = 659/862 (76%), Positives = 741/862 (85%)
Query: 1 MSVNKDEVETFLDNNLDFAKQYFERKLGDKTLCATASFHQCSEDG--VDFGGLGQ----N 54
MS+++++V +FLD N FA QYF +KL + + C EDG D G L +
Sbjct: 1 MSLSEEQVRSFLDGNPTFAHQYFGKKLSPENVAGA-----C-EDGWLADCGSLRELCQVE 54
Query: 55 ETETLFELIQDMQESINMEKVVFKTLKRISVLIQADCCSLFMYRQRNGTPELATRLFNIR 114
E+ LFEL+QDMQES+NME+VVFK L+R+ ++ AD CSLFMYRQRNG ELATRLF+++
Sbjct: 55 ESAALFELVQDMQESVNMERVVFKILRRLCTILHADRCSLFMYRQRNGIAELATRLFSVQ 114
Query: 115 KDSTMEESLVAPDCEIVFPLDMGIVGYVAQNKKTVNIQNVDECDYFSTFVDELTGYTTRN 174
DS +E+ LV PD EIVFPLD+GIVG+VAQ KK +N+Q+V EC +FS+F DELT Y T+N
Sbjct: 115 PDSLLEDCLVPPDSEIVFPLDIGIVGHVAQTKKMINVQDVAECPHFSSFADELTDYVTKN 174
Query: 175 VLATPIMNGKEVVAVIMAVNKSGAQFFSSADENLFLKYLNFAALNLKIYHLSYLHNCETR 234
+L+TPIMNGK+VVAVIMAVNK F+S DE++F KYLNFA LNLKIYHLSYLHNCETR
Sbjct: 175 ILSTPIMNGKDVVAVIMAVNKLDGPCFTSEDEDVFTKYLNFATLNLKIYHLSYLHNCETR 234
Query: 235 RGQVLLWSANKVFEELTDIERQFHKAFYTVRAYLNCDRYSVGLLDMSKQKEFFDLWPVLM 294
RGQVLLWSANKVFEELTDIERQFHKAFYTVRAYLNC+RYSVGLLDM+K+KEFFD+WPVLM
Sbjct: 235 RGQVLLWSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWPVLM 294
Query: 295 GEVPPYSGPRTPDGREIAFYKVIDYILHGKEDIKVIPNPKPEHWALVSGLPTYVAETGFI 354
GE PYSGPRTPDGREI FYKVIDYILHGKEDIKVIP P +HWAL SGLPTYVAE+GFI
Sbjct: 295 GEAQPYSGPRTPDGREIVFYKVIDYILHGKEDIKVIPTPPADHWALASGLPTYVAESGFI 354
Query: 355 CNIMNAASDEMFAFQEGPVDESGWVIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQD 414
CNIMNA++DEMF FQEGP+D+SGWVIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFD+QD
Sbjct: 355 CNIMNASADEMFNFQEGPLDDSGWVIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDDQD 414
Query: 415 EILMESLTQFLGWSVLNTDTYDKMNKLEYRKDIAQDMVLYHIKCDKNEIQAILPTREKLG 474
E+LMESLTQFLGWSVLNTDTYDKMNKLE RKDIAQDMVLYH++CDK+EIQ ILPTR++LG
Sbjct: 415 EVLMESLTQFLGWSVLNTDTYDKMNKLENRKDIAQDMVLYHVRCDKDEIQEILPTRDRLG 474
Query: 475 KEVSECDEEELAAILKEQLPDPEEYEIYHFHFSDLEWTEFDLVKCGIQMYYELGVVKKFQ 534
KE ++C+E+EL ILKE+LP P +++IY FHFSDLE TE +LVKCGIQMYYELGVV+KFQ
Sbjct: 475 KEPADCEEDELGKILKEELPGPTKFDIYEFHFSDLECTELELVKCGIQMYYELGVVRKFQ 534
Query: 535 IPQEVLVRFIFSVSKGYRKITYHNWRHGFNVAQTMFTLLMTGKLKQYYTDLEALAMVTAA 594
IPQEVLVRF+FSVSK YR+ITYHNWRHGFNVAQTMFTLLMTGKLK YYTDLEA AMVTA
Sbjct: 535 IPQEVLVRFLFSVSKAYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAG 594
Query: 595 LCHDIDHRGTNNLYQMKSQHPLAKLHGSSILERHHLEFGKFLLSEESLNIYQNLNRRQFE 654
LCHDIDHRGTNNLYQMKSQ+PLAKLHGSSILERHHLEFGKFLL+EESLNIYQNLNRRQ E
Sbjct: 595 LCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLAEESLNIYQNLNRRQHE 654
Query: 655 HVNNLMDIAIIATDLALYFKKRTMFQKIVDESKTYDNEKEWAEYLSLEATKKEIIMAMMM 714
HV +LMDIAIIATDLALYFKKRTMFQKIVDESK Y+++K W EYLSLE T+KEI+MAMMM
Sbjct: 655 HVIHLMDIAIIATDLALYFKKRTMFQKIVDESKNYEDKKSWVEYLSLETTRKEIVMAMMM 714
Query: 715 TACDLSGIAKPWEVQSKVALLVAAEFWEQGDLEISVLQQQPIPMMDRRKAAELPKLQVGF 774
TACDLS I KPWEVQSKVALLVAAEFWEQGDLE +VL QQPIPMMDR KAAELPKLQVGF
Sbjct: 715 TACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGF 774
Query: 775 IDFVCTFVYKEFSRFHPQIQPMYERLLNNRKEWKALADDYDANMXXXXXXXXXXXXXTVN 834
IDFVCTFVYKEFSRFH +I PM++RL NNRKEWKALAD+Y+A +
Sbjct: 775 IDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADEYEAKVKALEEEKKKEEDRVAA 834
Query: 835 SKGAILTCNGESVPPSSTCCII 856
K CNG P SSTCCI+
Sbjct: 835 KKVGTEVCNGGPAPKSSTCCIL 856
|
