KEGG   Homo sapiens (human): 2138
Entry
2138              CDS       T01001                                 
Symbol
EYA1, BOP, BOR, BOS1, OFC1
Name
(RefSeq) EYA transcriptional coactivator and phosphatase 1
  KO
K15616  eyes absent homolog 1 [EC:3.1.3.48]
Organism
hsa  Homo sapiens (human)
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription (cancer)
  Element
N00120  MLL-ENL fusion to transcriptional activation
Disease
H00453  Branchio-oto-renal syndrome
H02046  OFC syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    2138 (EYA1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    2138 (EYA1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.3  Phosphoric-monoester hydrolases
    3.1.3.48  protein-tyrosine-phosphatase
     2138 (EYA1)
Protein phosphatases and associated proteins [BR:hsa01009]
 HAD phosphatases
  EYAs
   2138 (EYA1)
SSDB
Motif
Pfam: Hydrolase
Other DBs
NCBI-GeneID: 2138
NCBI-ProteinID: NP_000494
OMIM: 601653
HGNC: 3519
Ensembl: ENSG00000104313
UniProt: Q99502 B3KXR1
Position
8:complement(71197433..71548094)
AA seq 592 aa
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGS
LNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQ
ATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPY
SYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYM
TSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSD
GKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGL
RMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCL
ATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLT
LALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFER
IIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL
NT seq 1779 nt   +upstreamnt  +downstreamnt
atggaaatgcaggatctaaccagcccgcatagccgtctgagtggtagtagtgaatccccc
agtggccccaaactcggtaactctcatataaatagtaattccatgactcccaatggcacc
gaagttaaaacagagccaatgagcagcagtgaaacagcttcaacgacagccgacgggtct
ttaaacaatttctcaggttcagcaattgggagcagtagtttcagcccacgaccaactcac
cagttctctccaccacagatttacccttccaacagaccatacccacatattctccctacc
ccttcctcacaaactatggctgcatatgggcaaacacagtttaccacaggaatgcaacaa
gctacagcctatgccacgtacccacagccaggacagccgtacggcatttcctcatatggt
gcattgtgggcaggcatcaagactgaaggtggattgtcacagtctcagtcacctggacag
acaggatttctcagctatggcacaagcttcagtacccctcaacctggacaggcaccatac
agctaccagatgcaaggtagcagttttacaacatcatcaggaatatatacaggaaataat
tcactcacaaattcctctggatttaatagttcacagcaggactatccgtcttatcccagt
tttggccagggtcagtacgcacagtattataacagctcaccgtatccagcacattatatg
accagcagcaacaccagcccaacgacaccatccaccaatgccacttaccagcttcaagaa
ccgccatctggcatcaccagccaagcagttacagatcccacagcagagtacagcacaatc
cacagcccatcaacacccattaaagattcagattctgatcgattgcgtcgaggttcagat
gggaaatcacgtggacggggccgaagaaacaataatccttcacctcccccagattctgat
cttgagagagtgttcatctgggacttggatgagacaatcattgttttccactccttgctt
actgggtcctacgccaacagatatgggagggatccacccacttcagtttcccttggactg
cgaatggaagaaatgattttcaacttggcagacacacatttattttttaatgacttagaa
gaatgtgaccaagtccatatagatgatgtttcttcagatgataacggacaggacctaagc
acatataactttggaacagatggctttcctgctgcagcaaccagtgctaacttatgtttg
gcaactggtgtacggggcggtgtggactggatgagaaagttggccttccgctacagacgg
gtaaaagagatctacaacacctacaaaaataatgttggaggtctgcttggtccagctaag
agggaagcctggctgcagttgagggccgaaattgaagccctgaccgactcctggttgaca
ctggccctgaaagcactctcgctcattcactcccggacaaactgtgtgaatattttagta
acaactactcagctcatcccagcattggcgaaagtcctgctgtatgggttaggaattgta
tttccaatagaaaatatttacagtgcaactaaaataggaaaagaaagctgttttgagaga
ataattcaaaggtttggaagaaaagtggtgtatgttgttataggagatggtgtagaagaa
gaacaaggagcaaaaaagcacgcgatgcccttctggaggatctccagccactcggacctc
atggccctgcaccatgccttggaactggagtacctgtaa

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (46)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (43)   
DNA sequence (83)   
   RefSeq(nuc) (43)   
   GenBank (20)   
   EMBL (20)   
Protein domain (1)   
   Pfam (1)   
All databases (156)   

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