KEGG   Homo sapiens (human): 2138Help
Entry
2138              CDS       T01001                                 

Gene name
EYA1, BOP, BOR, BOS1, OFC1
Definition
(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
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 Cancers: 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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Other DBs
NCBI-GeneID: 2138
NCBI-ProteinID: NP_000494
OMIM: 601653
HGNC: 3519
Ensembl: ENSG00000104313
Vega: OTTHUMG00000149894
Pharos: Q99502(Tbio)
UniProt: Q99502 A0A024R813 B3KXR1
Position
8q13.3
AA seq 592 aa AA seqDB search
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGS
LNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQ
ATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPY
SYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYM
TSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSD
GKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGL
RMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCL
ATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLT
LALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFER
IIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL
NT seq 1779 nt NT seq  +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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