Homo sapiens (human): 125336
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Entry
125336 CDS
T01001
Symbol
LOXHD1, DFNB77, LH2D1
Name
(RefSeq) lipoxygenase homology PLAT domains 1
KO
K24822
lipoxygenase homology domain-containing protein 1
Organism
hsa
Homo sapiens (human)
Disease
H00605
Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:
hsa03037
]
125336 (LOXHD1)
04990 Domain-containing proteins not elsewhere classified [BR:
hsa04990
]
125336 (LOXHD1)
Cilium and associated proteins [BR:
hsa03037
]
Other cilia and associated proteins
Stereociliary proteins
125336 (LOXHD1)
Domain-containing proteins not elsewhere classified [BR:
hsa04990
]
Other domain-containing proteins
Others
125336 (LOXHD1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
PLAT
ATS3
DUF7755
Nop14
Motif
Other DBs
NCBI-GeneID:
125336
NCBI-ProteinID:
NP_653213
OMIM:
613072
HGNC:
26521
Ensembl:
ENSG00000167210
UniProt:
Q8IVV2
F5GZB4
B7Z7T7
LinkDB
All DBs
Position
18:complement(46476961..46657220)
Genome browser
AA seq
2211 aa
AA seq
DB search
MMPQKKRRRKKDIDFLALYEAELLNYASEDDEGELEHEYYKARVYEVVTATGDVRGAGTD
ANVFITLFGENGLSPKLQLTSKSKSAFEKGNVDVFRVRTNNVGLIYKVRIEHDNTGLNAS
WYLDHVIVTDMKRPHLRYYFNCNNWLSKVEGDRQWCRDLLASFNPMDMPRGNKYEVKVYT
GDVIGAGTDADVFINIFGEYGDTGERRLENEKDNFEKGAEDRFILDAPDLGQLMKINVGH
NNKGGSAGWFLSQIVIEDIGNKRKYDFPLNRWLALDEDDGKIQRDILVGGAETTAITYIV
TVFTGDVRGAGTKSKIYLVMYGARGNKNSGKIFLEGGVFDRGRTDIFHIELAVLLSPLSR
VSVGHGNVGVNRGWFCEKVVILCPFTGIQQTFPCSNWLDEKKADGLIERQLYEMVSLRKK
RLKKFPWSLWVWTTDLKKAGTNSPIFIQIYGQKGRTDEILLNPNNKWFKPGIIEKFRIEL
PDLGRFYKIRVWHDKRSSGSGWHLERMTLMNTLNKDKYNFNCNRWLDANEDDNEIVREMT
AEGPTVRRIMGMARYHVTVCTGELEGAGTDANVYLCLFGDVGDTGERLLYNCRNNTDLFE
KGNADEFTIESVTMRNVRRVRIRHDGKGSGSGWYLDRVLVREEGQPESDNVEFPCLRWLD
KDKDDGQLVRELLPSDSSATLKNFRYHISLKTGDVSGASTDSRVYIKLYGDKSDTIKQVL
LVSDNNLKDYFERGRVDEFTLETLNIGNINRLVIGHDSTGMHASWFLGSVQIRVPRQGKQ
YTFPANRWLDKNQADGRLEVELYPSEVVEIQKLVHYEVEIWTGDVGGAGTSARVYMQIYG
EKGKTEVLFLSSRSKVFERASKDTFQLEAADVGEVYKLRLGHTGEGFGPSWFVDTVWLRH
LVVREVDLTPEEEARKKKEKDKLRQLLKKERLKAKLQRKKKKRKGSDEEDEGEEEESSSS
EESSSEEEEMEEEEEEEEFGPGMQEVIEQHKFEAHRWLARGKEDNELVVELVPAGKPGPE
RNTYEVQVVTGNVPKAGTDANVYLTIYGEEYGDTGERPLKKSDKSNKFEQGQTDTFTIYA
IDLGALTKIRIRHDNTGNRAGWFLDRIDITDMNNEITYYFPCQRWLAVEEDDGQLSRELL
PVDESYVLPQSEEGRGGGDNNPLDNLALEQKDKSTTFSVTIKTGVKKNAGTDANVFITLF
GTQDDTGMTLLKSSKTNSDKFERDSIEIFTVETLDLGDLWKVRLGHDNTGKAPGWFVDWV
EVDAPSLGKCMTFPCGRWLAKNEDDGSIIRDLFHAELQTRLYTPFVPYEITLYTSDVFAA
GTDANIFIIIYGCDAVCTQQKYLCTNKREQKQFFERKSASRFIVELEDVGEIIEKIRIGH
NNTGMNPGWHCSHVDIRRLLPDKDGAETLTFPCDRWLATSEDDKKTIRELVPYDIFTEKY
MKDGSLRQVYKEVEEPLDIVLYSVQIFTGNIPGAGTDAKVYITIYGDLGDTGERYLGKSE
NRTNKFERGTADTFIIEAADLGVIYKIKLRHDNSKWCADWYVEKVEIWNDTNEDEFLFLC
GRWLSLKKEDGRLERLFYEKEYTGDRSSNCSSPADFWEIALSSKMADVDISTVTGPMADY
VQEGPIIPYYVSVTTGKHKDAATDSRAFIFLIGEDDERSKRIWLDYPRGKRGFSRGSVEE
FYVAGLDVGIIKKIEVLYEMTVWTGDVVGGGTDSNIFMTLYGINGSTEEMQLDKKKARFE
REQNDTFIMEILDIAPFTKMRIRIDGLGSRPEWFLERILLKNMNTGDLTMFYYGDWLSQR
KGKKTLVCEMCAVIDEEEMMEWTSYTVAVKTSDILGAGTDANVFIIIFGENGDSGTLALK
QSANWNKFERNNTDTFNFPDMLSLGHLCKLRVWHDNKGIFPGWHLSYVDVKDNSRDETFH
FQCDCWLSKSEGDGQTVRDFACANNKICDELEETTYEIVIETGNGGETRENVWLILEGRK
NRSKEFLMENSSRQRAFRKGTTDTFEFDSIYLGDIASLCVGHLAREDRFIPKRELAWHVK
TITITEMEYGNVYFFNCDCLIPLKRKRKYFKVFEVTKTTESFASKVQSLVPVKYEVIVTT
GYEPGAGTDANVFVTIFGANGDTGKRELKQKMRNLFERGSTDRFFLETLELGELRKVRLE
HDSSGYCSGWLVEKVEVTNTSTGVATIFNCGRWLDKKRGDGLTWRDLFPSV
NT seq
6636 nt
NT seq
+upstream
nt +downstream
nt
atgatgccccagaagaaaaggcggaggaagaaggacatcgacttcctggccctgtacgaa
gcggagctgctgaactacgcctcggaggacgacgagggggagctggaacacgagtactac
aaggccagagtgtatgaagtggtcacagccacgggggatgttcgcggtgcagggacggat
gccaatgtcttcatcacgctttttggagagaatgggctctctcccaagctccagctcacc
agcaagagcaagtctgcctttgagaagggcaacgtcgatgtgttccgggtgagaaccaac
aatgtgggcctcatctataaagtcaggattgagcatgacaacacgggcttgaatgccagc
tggtacctggaccatgtgattgtgaccgacatgaagaggcctcatctccgttactacttc
aactgcaacaactggctgagcaaggtggaaggtgaccgccagtggtgccgtgacctgctg
gccagcttcaaccccatggacatgcccagaggtaataagtatgaagtcaaggtatacact
ggtgatgtaattggtgcagggacagatgctgatgtcttcatcaatatttttggagagtat
ggagacacaggggagcgtaggctagaaaatgaaaaggacaactttgaaaagggagctgaa
gacaggttcatcctggatgccccggatttggggcagctgatgaagatcaatgttggccac
aacaataaggggggctctgcaggttggttcctgtcccagatagtcattgaagatattggg
aacaaaagaaaatatgacttcccccttaaccgctggctggccttggacgaagacgatggc
aaaatccaaagggatatcttagtgggcggagctgagaccacagctattacgtatattgtc
accgtcttcactggggatgtccggggggctggtaccaaatccaaaatctacttggtcatg
tatggggccagagggaataagaacagtgggaaaatcttcctggagggcggcgtgtttgac
cgaggccgcacggacatcttccacatcgagctggctgtcctccttagccccctgagtcgg
gtctccgtcgggcatggcaatgtgggtgtcaacagaggctggttctgtgagaaggtggtg
attctgtgccccttcactggtatccagcagaccttcccttgtagcaactggctggatgag
aagaaagcggatgggttgattgagaggcagctctatgagatggtgtctctcaggaagaag
cggctgaaaaaattcccttggtccctgtgggtctggacaaccgacctaaagaaagctggt
accaactctcccatcttcatccagatttatgggcagaaggggcggacagatgagattctc
ctgaatcccaacaacaagtggttcaaacccggcataatcgagaagtttaggattgagctc
ccggatcttggcaggttttataagattcgagtatggcatgataaaaggagttctggttct
ggatggcatttagaaaggatgaccctgatgaacactctgaacaaagacaagtacaacttc
aattgcaaccgctggctggatgccaatgaggatgacaatgagatagtgagggaaatgact
gcagaaggcccaacagtgcgcaggatcatgggcatggcccggtaccatgtgactgtgtgc
acaggtgaacttgaaggtgctgggaccgatgccaacgtctatctctgcctttttggtgat
gtgggggacacgggggaacggctgctctacaactgcaggaataacacagacctgtttgaa
aagggcaatgctgacgagttcactatcgagtctgtcaccatgcggaatgtgaggcgggtg
aggatcagacacgatggcaaaggctccggcagcggctggtacctggacagagtgctggtg
agagaggaggggcagcctgagagcgacaacgtggagttcccatgtctcaggtggttggac
aaggataaggatgatgggcagctggtccgagagttgctacccagtgacagcagcgcgaca
ctgaagaactttcgctatcacatcagcttgaagactggggatgtctctggggccagcacg
gattctagagtctacatcaagctctatggggataaatctgacaccatcaagcaagttctt
cttgtctctgacaacaacctcaaagactactttgaacgtggccgggtggatgagttcacc
ctcgagaccctgaacattggaaatatcaaccggctggtgattgggcatgacagcactggc
atgcatgccagctggttcctgggcagcgttcagatccgtgtgccccgtcaaggcaagcag
tacacctttcccgccaaccgctggctggacaagaaccaggctgacgggcgcctggaggtg
gagctgtatcccagcgaggtggtggagatccagaaattggtccactatgaggttgagatt
tggacaggagatgtgggtggcgcaggcaccagtgcccgagtctacatgcagatctatgga
gagaaaggcaagacagaagtgctcttcctctccagccgctcaaaagtttttgaacgggcg
tccaaggacacattccagcttgaggcggccgacgtgggcgaggtctataagctccggctc
gggcacacgggcgagggctttgggcccagctggttcgtggacaccgtgtggctgcggcac
ctggtggtgcgggaggtggacctcacgccggaggaggaggcccggaagaagaaggagaag
gacaagctgcggcagctgctcaagaaggagcggctgaaggccaagctgcagaggaagaag
aagaagaggaagggcagcgacgaagaggacgagggggaggaagaggagtcgtcctcatca
gaggagtcctcgtcagaggaggaggagatggaagaagaggaggaagaggaggagtttggg
ccggggatgcaggaggtgattgagcagcacaagttcgaagcccaccgctggctggcccgg
ggcaaggaggacaacgaacttgtcgtggagttggtgccagctggcaagccgggtcctgag
cgaaacacctatgaggttcaggtggtcacggggaatgtgcccaaggccggcactgatgct
aacgtctacctaaccatctacggcgaggagtatggagacacgggcgaacgacccctgaag
aagtcagacaagtccaacaaatttgagcaggggcagacagacaccttcaccatctatgcc
attgacctgggggccctgaccaagattcggattcgccacgacaacacaggcaacagagca
ggctggttcctggacagaatagacattactgacatgaacaacgagatcacgtactacttt
ccatgccaacgttggctggcagtggaggaagatgatggccagctgtccagggagctgttg
ccagtggatgagtcctatgtgctgccacagagcgaggagggtaggggaggcggtgacaac
aaccccctcgacaacctggccctggagcagaaagataaatctaccacattctcagtgacc
ataaagactggggttaagaagaatgcgggcacagatgctaatgtcttcatcacactcttt
ggcacacaggatgacactggaatgaccctcctgaagtcctccaagacaaacagcgataag
tttgagagggacagcattgaaatcttcacggtggagacgctggatctgggagacctgtgg
aaagtccggcttggccatgacaacacaggcaaggccccaggctggtttgtagactgggta
gaggtggatgccccatctcttgggaagtgcatgacgtttccctgtggccgctggctggcc
aaaaacgaagacgacgggtccatcatcagagacctcttccatgcagagcttcagacgagg
ctgtacacaccatttgttccttacgagatcaccctctacaccagtgatgtctttgctgct
gggacagatgccaacatcttcatcatcatctatggctgcgatgccgtgtgcacccagcag
aagtatctgtgtaccaacaagagggaacagaagcagttctttgagaggaagtctgcctcc
cgcttcatcgtagagttagaagatgtgggagaaatcattgaaaaaattcggattggccat
aataacacgggcatgaatcctgggtggcactgctctcacgtggacatccgcaggctcctc
ccggataaagacggtgcagagaccttgactttcccatgcgatcggtggcttgccacctct
gaggatgacaaaaagaccattcgagaactggttccatatgacatcttcactgagaaatac
atgaaagatgggtccttacggcaagtctacaaggaagtagaagagcctctggacattgtg
ctgtactcggtgcagatcttcacagggaacattcctggggcagggacggatgccaaggtg
tacatcaccatctatggagacctcggggacactggggagcgataccttggcaagtcagag
aaccggaccaacaagttcgagagaggaacggctgacaccttcatcatcgaggccgctgac
ctaggcgtcatctacaagatcaagctccgccatgacaactccaagtggtgcgcagactgg
tacgtggagaaggtggagatctggaatgacaccaacgaggacgagttcctgttcctatgc
gggcgctggctctccctgaagaaggaggatgggcgactcgagaggctcttttacgagaag
gagtacactggggaccgcagcagcaactgcagcagccctgctgacttctgggagatcgcc
ctgagctccaagatggccgatgtcgacatcagcacagtgaccgggcccatggctgactac
gttcaagagggcccaattattccctactatgtgtcagtcaccactgggaagcacaaggac
gcggccactgacagccgagccttcatctttctcatcggggaggatgatgaacgtagtaag
cgcatctggttggactacccccgagggaagaggggcttcagccgtggctctgtggaggag
ttctacgtcgcaggcttggatgtgggcatcatcaagaaaatagaggttctctatgaaatg
acggtgtggacaggggatgtggttggcgggggcactgactccaacatcttcatgaccctc
tacggcatcaacgggagcacagaggagatgcagctggacaaaaagaaagccaggtttgag
cgggagcagaacgacaccttcatcatggagatcctagacattgctccattcaccaagatg
cggatccggattgatggcctgggcagtcggccggagtggttcctggagaggatcctactg
aagaacatgaacactggagacctgaccatgttctactatggagactggctgtcccagcgg
aagggcaagaagaccctggtgtgtgaaatgtgtgccgttatcgatgaggaagaaatgatg
gagtggacctcctacaccgtcgcagttaagaccagcgacatcctgggagcaggcactgat
gccaacgtgttcatcatcatcttcggggagaacggggatagtgggacactggccctgaag
cagtcggcaaactggaacaagtttgagcggaacaacacggacacattcaacttccctgac
atgctgagcttgggccacctctgcaagctgagggtctggcacgacaacaaagggatattt
cctggctggcatctgagctatgtcgatgtgaaggacaactcccgcgacgagaccttccac
ttccagtgtgactgctggctctccaagagtgagggtgacgggcagacggtccgcgacttt
gcctgtgccaacaacaagatctgtgatgagctggaagagaccacctacgagatcgtcata
gaaacgggcaacggaggcgaaaccagggagaacgtctggctcatcctggagggcaggaag
aaccgatccaaagagtttctcatggaaaattcttctaggcagcgggcctttaggaagggg
accacagacacgtttgagtttgacagcatctacttgggggacattgcctccctctgtgtg
ggccaccttgccagggaagaccggtttatccccaagagagaacttgcctggcatgtcaag
accatcaccatcaccgagatggagtacggcaatgtgtacttctttaactgtgactgcctc
atccccctcaagaggaagaggaagtacttcaaggtattcgaggttaccaagacgacagag
agctttgccagcaaggtccagagcctggtgcccgtcaagtacgaagtcatcgtgacaaca
ggctatgagccaggggcaggcactgatgccaacgtcttcgtgaccatctttggggccaac
ggagacacaggcaagcgggagctgaagcagaaaatgcgcaacctcttcgagcggggcagc
acagaccgcttcttcctggagacgctggagctgggtgagctgcgcaaggtgcgcctggag
cacgacagcagtggctactgctcaggctggctggtggagaaggtggaggtcaccaacacc
agcaccggcgtggccaccatcttcaactgtggcaggtggctggacaagaagcggggggat
ggactcacctggagagacctcttcccttctgtctga
DBGET
integrated database retrieval system
