KEGG   Homo sapiens (human): 494513Help
Entry
494513            CDS       T01001                                 

Gene name
PJVK, DFNB59
Definition
(RefSeq) pejvakin
  KO
K22147  pejvakin
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
SSDB OrthologParalogGFIT
Motif
Pfam: Gasdermin Tnp_zf-ribbon_2 DUF4663
Motif
Other DBs
NCBI-GeneID: 494513
NCBI-ProteinID: NP_001036167
OMIM: 610219
HGNC: 29502
Ensembl: ENSG00000204311
Vega: OTTHUMG00000154425
Pharos: Q0ZLH3(Tbio)
UniProt: Q0ZLH3
Position
2q31.2
AA seq 352 aa AA seqDB search
MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKD
ILLGDREISAGISSYQLLNYEDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVT
KHEVEVSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVMESIRTTRQCSLSVHAGIRGE
AMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREETA
TFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLL
NHNIPKGPCILCGMGNFKRETVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK
NT seq 1059 nt NT seq  +upstreamnt  +downstreamnt
atgtttgctgctgctaccaagagctttgtcaagcaagttggagatggagggagattagtt
cctgttccaagcctcagtgaagctgacaaatatcaacctctaagtctggtggtaaaaaag
aagcgatgctttctgtttcctagatataaatttacttcaacaccttttacactgaaagat
attctcctaggagacagagaaatttcagctggtatttcatcttatcaattactgaattat
gaagatgaatcagatgtttcactctatggaaggcgaggtaaccatattgtaaatgacgtt
gggattaacgttgctggatcagattccattgcagtgaaagcttcatttggtatagtaacc
aaacatgaagtggaagtatcaacattactcaaagaaattactacacgaaaaattaacttt
gaccacagcttgatacgtcagtcaaggagcagcagaaaggcagtattgtgtgtggtcatg
gagagcatccgaaccacacgacagtgctcactgtctgtgcatgctggaattcgaggggaa
gcaatgcggtttcactttatggatgaacagaatcccaagggaagggacaaagctattgtt
ttcccagcacatacaaccatagctttcagtgtttttgaactcttcatatacctggatggt
gcctttgacctttgtgtcacttcagtgtcaaaaggaggatttgaaagggaagaaacggca
acatttgcactgctgtacaggttgagaaatatcctatttgaaagaaatagaagagtgatg
gatgtcatttctcgttcacagctttacttggatgatcttttttctgactactatgacaaa
cctctcagcatgactgatatttcactcaaagaagggacccatatccgagttaacttactt
aatcacaacattcccaaagggccttgcatactctgtggaatggggaacttcaaaagggag
acagtttatgggtgctttcagtgttctgttgatggtcagaagtatgtgagacttcatgca
gttccttgttttgatatttggcacaagaggatgaaataa

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