KEGG   Homo sapiens (human): 494513
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)
SSDB
Motif
Pfam: Gasdermin Tnp_zf-ribbon_2 DUF4663
Other DBs
NCBI-GeneID: 494513
NCBI-ProteinID: NP_001036167
OMIM: 610219
HGNC: 29502
Ensembl: ENSG00000204311
UniProt: Q0ZLH3
Position
2:178451378..178462102
AA seq 352 aa
MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKD
ILLGDREISAGISSYQLLNYEDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVT
KHEVEVSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVMESIRTTRQCSLSVHAGIRGE
AMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREETA
TFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLL
NHNIPKGPCILCGMGNFKRETVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK
NT seq 1059 nt   +upstreamnt  +downstreamnt
atgtttgctgctgctaccaagagctttgtcaagcaagttggagatggagggagattagtt
cctgttccaagcctcagtgaagctgacaaatatcaacctctaagtctggtggtaaaaaag
aagcgatgctttctgtttcctagatataaatttacttcaacaccttttacactgaaagat
attctcctaggagacagagaaatttcagctggtatttcatcttatcaattactgaattat
gaagatgaatcagatgtttcactctatggaaggcgaggtaaccatattgtaaatgacgtt
gggattaacgttgctggatcagattccattgcagtgaaagcttcatttggtatagtaacc
aaacatgaagtggaagtatcaacattactcaaagaaattactacacgaaaaattaacttt
gaccacagcttgatacgtcagtcaaggagcagcagaaaggcagtattgtgtgtggtcatg
gagagcatccgaaccacacgacagtgctcactgtctgtgcatgctggaattcgaggggaa
gcaatgcggtttcactttatggatgaacagaatcccaagggaagggacaaagctattgtt
ttcccagcacatacaaccatagctttcagtgtttttgaactcttcatatacctggatggt
gcctttgacctttgtgtcacttcagtgtcaaaaggaggatttgaaagggaagaaacggca
acatttgcactgctgtacaggttgagaaatatcctatttgaaagaaatagaagagtgatg
gatgtcatttctcgttcacagctttacttggatgatcttttttctgactactatgacaaa
cctctcagcatgactgatatttcactcaaagaagggacccatatccgagttaacttactt
aatcacaacattcccaaagggccttgcatactctgtggaatggggaacttcaaaagggag
acagtttatgggtgctttcagtgttctgttgatggtcagaagtatgtgagacttcatgca
gttccttgttttgatatttggcacaagaggatgaaataa

  All links  
Ontology (1)   
   KEGG BRITE (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (7)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (10)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (22)   
   RefSeq(nuc) (10)   
   GenBank (6)   
   EMBL (6)   
Protein domain (3)   
   Pfam (3)   
All databases (47)   

Download RDF
DBGET integrated database retrieval system