Homo sapiens (human): 2138
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Entry
2138 CDS
T01001
Symbol
EYA1, BOP, BOR, BOS1, OFC1, OTFCS
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Hydrolase
Motif
Other DBs
NCBI-GeneID:
2138
NCBI-ProteinID:
NP_000494
OMIM:
601653
HGNC:
3519
Ensembl:
ENSG00000104313
UniProt:
Q99502
B3KXR1
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All DBs
Position
8:complement(71197433..71548094)
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AA seq
592 aa
AA seq
DB search
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGS
LNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQ
ATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPY
SYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYM
TSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSD
GKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGL
RMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCL
ATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLT
LALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFER
IIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL
NT seq
1779 nt
NT seq
+upstream
nt +downstream
nt
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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