Homo sapiens (human): 494513
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Entry
494513 CDS
T01001
Symbol
PJVK, DFNB59
Name
(RefSeq) pejvakin
KO
K22147
pejvakin
Organism
hsa
Homo sapiens (human)
Disease
H00605
Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09190 Not Included in Pathway or Brite
09194 Poorly characterized
99996 General function prediction only
494513 (PJVK)
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GFIT
Motif
Pfam:
Gasdermin
zf-Tnp_2
DUF4663
Motif
Other DBs
NCBI-GeneID:
494513
NCBI-ProteinID:
NP_001036167
OMIM:
610219
HGNC:
29502
Ensembl:
ENSG00000204311
UniProt:
Q0ZLH3
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Position
2:178451378..178462102
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AA seq
352 aa
AA seq
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MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKD
ILLGDREISAGISSYQLLNYEDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVT
KHEVEVSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVMESIRTTRQCSLSVHAGIRGE
AMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREETA
TFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLL
NHNIPKGPCILCGMGNFKRETVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK
NT seq
1059 nt
NT seq
+upstream
nt +downstream
nt
atgtttgctgctgctaccaagagctttgtcaagcaagttggagatggagggagattagtt
cctgttccaagcctcagtgaagctgacaaatatcaacctctaagtctggtggtaaaaaag
aagcgatgctttctgtttcctagatataaatttacttcaacaccttttacactgaaagat
attctcctaggagacagagaaatttcagctggtatttcatcttatcaattactgaattat
gaagatgaatcagatgtttcactctatggaaggcgaggtaaccatattgtaaatgacgtt
gggattaacgttgctggatcagattccattgcagtgaaagcttcatttggtatagtaacc
aaacatgaagtggaagtatcaacattactcaaagaaattactacacgaaaaattaacttt
gaccacagcttgatacgtcagtcaaggagcagcagaaaggcagtattgtgtgtggtcatg
gagagcatccgaaccacacgacagtgctcactgtctgtgcatgctggaattcgaggggaa
gcaatgcggtttcactttatggatgaacagaatcccaagggaagggacaaagctattgtt
ttcccagcacatacaaccatagctttcagtgtttttgaactcttcatatacctggatggt
gcctttgacctttgtgtcacttcagtgtcaaaaggaggatttgaaagggaagaaacggca
acatttgcactgctgtacaggttgagaaatatcctatttgaaagaaatagaagagtgatg
gatgtcatttctcgttcacagctttacttggatgatcttttttctgactactatgacaaa
cctctcagcatgactgatatttcactcaaagaagggacccatatccgagttaacttactt
aatcacaacattcccaaagggccttgcatactctgtggaatggggaacttcaaaagggag
acagtttatgggtgctttcagtgttctgttgatggtcagaagtatgtgagacttcatgca
gttccttgttttgatatttggcacaagaggatgaaataa
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integrated database retrieval system