KEGG   Homo sapiens (human): 1690
Entry
1690              CDS       T01001                                 
Symbol
COCH, COCH-5B2, COCH5B2, DFNA9, DFNB110, DFNA31
Name
(RefSeq) cochlin
  KO
K23574  cochlin
Organism
hsa  Homo sapiens (human)
Disease
H00604  Deafness, autosomal dominant
H00605  Deafness, autosomal recessive
H01705  Bilateral sudden sensorineural hearing loss
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    1690 (COCH)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Von Willebrand domain-containing proteins
  VWA domain-containing proteins
   1690 (COCH)
SSDB
Motif
Pfam: VWA LCCL VWA_2 VWA_3 Copine
Other DBs
NCBI-GeneID: 1690
NCBI-ProteinID: NP_001128530
OMIM: 603196
HGNC: 2180
Ensembl: ENSG00000100473
UniProt: O43405
Structure
Position
14:30874559..30895615
AA seq 550 aa
MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFS
VYGNIVYASVSSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSAS
FTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRR
FNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGG
NSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVS
VAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSK
TCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFS
FTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYD
DVQGPAAAAHDAGITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRG
ICRDFLESQQ
NT seq 1653 nt   +upstreamnt  +downstreamnt
atgtccgcagcctggatcccggctctcggcctcggtgtgtgtctgctgctgctgccgggg
cccgcgggcagcgagggagccgctcccattgctatcacatgttttaccagaggcttggac
atcaggaaagagaaagcagatgtcctctgcccagggggctgccctcttgaggaattctct
gtgtatgggaacatagtatatgcttctgtatcgagcatatgtggggctgctgtccacagg
ggagtaatcagcaactcagggggacctgtacgagtctatagcctacctggtcgagaaaac
tattcctcagtagatgccaatggcatccagtctcaaatgctttctagatggtctgcttct
ttcacagtaactaaaggcaaaagtagtacacaggaggccacaggacaagcagtgtccaca
gcacatccaccaacaggtaaacgactaaagaaaacacccgagaagaaaactggcaataaa
gattgtaaagcagacattgcatttctgattgatggaagctttaatattgggcagcgccga
tttaatttacagaagaattttgttggaaaagtggctctaatgttgggaattggaacagaa
ggaccacatgtgggccttgttcaagccagtgaacatcccaaaatagaattttacttgaaa
aactttacatcagccaaagatgttttgtttgccataaaggaagtaggtttcagagggggt
aattccaatacaggaaaagccttgaagcatactgctcagaaattcttcacggtagatgct
ggagtaagaaaagggatccccaaagtggtggtggtatttattgatggttggccttctgat
gacatcgaggaagcaggcattgtggccagagagtttggtgtcaatgtatttatagtttct
gtggccaagcctatccctgaagaactggggatggttcaggatgtcacatttgttgacaag
gctgtctgtcggaataatggcttcttctcttaccacatgcccaactggtttggcaccaca
aaatacgtaaagcctctggtacagaagctgtgcactcatgaacaaatgatgtgcagcaag
acctgttataactcagtgaacattgcctttctaattgatggctccagcagtgttggagat
agcaatttccgcctcatgcttgaatttgtttccaacatagccaagacttttgaaatctcg
gacattggtgccaagatagctgctgtacagtttacttatgatcagcgcacggagttcagt
ttcactgactatagcaccaaagagaatgtcctagctgtcatcagaaacatccgctatatg
agtggtggaacagctactggtgatgccatttccttcactgttagaaatgtgtttggccct
ataagggagagccccaacaagaacttcctagtaattgtcacagatgggcagtcctatgat
gatgtccaaggccctgcagctgctgcacatgatgcaggaatcactatcttctctgttggt
gtggcttgggcacctctggatgacctgaaagatatggcttctaaaccgaaggagtctcat
gctttcttcacaagagagttcacaggattagaaccaattgtttctgatgtcatcagaggc
atttgtagagatttcttagaatcccagcaataa

  All links  
Disease (3)   
   OMIM (3)   
Gene (12)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (15)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (33)   
   RefSeq(nuc) (13)   
   GenBank (10)   
   EMBL (10)   
3D Structure (1)   
   PDB (1)   
Protein domain (5)   
   Pfam (5)   
All databases (69)   

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