KEGG   Homo sapiens (human): 125336Help
Entry
125336            CDS       T01001                                 

Gene name
LOXHD1, DFNB77, LH2D1
Definition
(RefSeq) lipoxygenase homology domains 1
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
SSDB OrthologParalogGFIT
Motif
Pfam: PLAT ATS3 Nop14
Motif
Other DBs
NCBI-GeneID: 125336
NCBI-ProteinID: NP_653213
OMIM: 613072
HGNC: 26521
Ensembl: ENSG00000167210
Vega: OTTHUMG00000132644
Pharos: Q8IVV2(Tbio)
UniProt: Q8IVV2 F5GZB4 B7Z7T7
LinkDB All DBs
Position
18q21.1
AA seq 2211 aa AA seqDB 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  +upstreamnt  +downstreamnt
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

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