KEGG   Homo sapiens (human): 10083
Entry
10083             CDS       T01001                                 
Symbol
USH1C, AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst
Name
(RefSeq) USH1 protein network component harmonin
  KO
K21877  harmonin
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
H00779  Usher syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    10083 (USH1C)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  USH complex and associated proteins
   10083 (USH1C)
SSDB
Motif
Pfam: USH1C_N PDZ PDZ_6 PDZ_2 Baculo_LEF5_C
Other DBs
NCBI-GeneID: 10083
NCBI-ProteinID: NP_005700
OMIM: 605242
HGNC: 12597
Ensembl: ENSG00000006611
UniProt: Q9Y6N9 A0A0S2Z4U9
Structure
Position
11:complement(17493900..17544416)
AA seq 552 aa
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFD
AIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKG
GQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPL
TWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISH
VKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTD
RERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEM
EQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDG
GTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVV
VSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVC
PPKEYDDELTFF
NT seq 1659 nt   +upstreamnt  +downstreamnt
atggaccgaaaagtggcccgagaattccggcataaggtggattttctgattgaaaatgat
gcagagaaggactatctctatgatgtgctgcgaatgtaccaccagaccatggacgtggcc
gtgctcgtgggagacctgaagctggtcatcaatgaacccagccgtctgcctctgtttgat
gccattcggccgctgatcccactgaagcaccaggtggaatatgatcagctgaccccccgg
cgctccaggaagctgaaggaggtgcgtctggaccgtctgcaccccgaaggcctcggcctg
agtgtgcgtggtggcctggagtttggctgtgggctcttcatctcccacctcatcaaaggc
ggtcaggcagacagcgtcgggctccaggtaggggacgagatcgtccggatcaatggatat
tccatctcctcctgtacccatgaggaggtcatcaacctcattcgaaccaagaaaactgtg
tccatcaaagtgagacacatcggcctgatccccgtgaaaagctctcctgatgagcccctc
acttggcagtatgtggatcagtttgtgtcggaatctgggggcgtgcgaggcagcctgggc
tcccctggaaatcgggaaaacaaggagaagaaggtcttcatcagcctggtaggctcccga
ggccttggctgcagcatttccagcggccccatccagaagcctggcatctttatcagccat
gtgaaacctggctccctgtctgctgaggtgggattggagataggggaccagattgtcgaa
gtcaatggcgtcgacttctctaacctggatcacaaggaggctgtaaatgtgctgaagagt
agccgcagcctgaccatctccattgtagctgcagctggccgggagctgttcatgacagac
cgggagcggctggcagaggcgcggcagcgtgagctgcagcggcaggagcttctcatgcag
aagcggctggcgatggagtccaacaagatcctccaggagcagcaggagatggagcggcaa
aggagaaaagaaattgcccagaaggcagcagaggaaaatgagagataccggaaggagatg
gaacagattgtagaggaggaagagaagtttaagaagcaatgggaagaagactggggctca
aaggaacagctactcttgcctaaaaccatcactgctgaggtacacccagtaccccttcgc
aagccaaagtatgatcagggagtggaacctgagctcgagcccgcagatgacctggatgga
ggcacggaggagcagggagagcaggatttccggaaatatgaggaaggctttgacccctac
tctatgttcaccccagagcagatcatggggaaggatgtccggctcctacgcatcaagaag
gagggatccttagacctggccctggaaggcggtgtggactcccccattgggaaggtggtc
gtttctgctgtgtatgagcggggagctgctgagcggcatggtggcattgtgaaaggggac
gagatcatggcaatcaacggcaagattgtgacagactacaccctggctgaggctgaggct
gccctgcagaaggcctggaatcagggcggggactggatcgaccttgtggttgccgtctgc
cccccaaaggagtatgacgatgagctgaccttcttctga

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Ontology (2)   
   KEGG BRITE (2)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (26)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (23)   
DNA sequence (52)   
   RefSeq(nuc) (24)   
   GenBank (14)   
   EMBL (14)   
3D Structure (11)   
   PDB (11)   
Protein domain (5)   
   Pfam (5)   
All databases (116)   

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