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) harmonin isoform a
  KO
K21877  harmonin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04519  Cadherin signaling
Network
nt06549  Cadherin signaling
  Element
N02007  Atypical cadherin interaction, CDH23
Disease
H00605  Deafness, autosomal recessive
H00779  Usher syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04519 Cadherin signaling
    10083 (USH1C)
 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 ODF2_N
Other DBs
NCBI-GeneID: 10083
NCBI-ProteinID: NP_005700
OMIM: 605242
HGNC: 12597
Ensembl: ENSP00000317018.4
UniProt: Q9Y6N9 A0A0S2Z4U9
Structure
LinkDB
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

DBGET integrated database retrieval system