Homo sapiens (human): 26509
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Entry
26509 CDS
T01001
Symbol
MYOF, FER1L3, HAE7
Name
(RefSeq) myoferlin
KO
K22125
myoferlin
Organism
hsa
Homo sapiens (human)
Disease
H01006
Hereditary angioedema
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
26509 (MYOF)
Membrane trafficking [BR:
hsa04131
]
Endosome - Lysosome transport
Others
Ferlins
26509 (MYOF)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
C2
dsrm_Ferlin
FerB
Ferlin_C
FerA
FerI
NagJ_C
Motif
Other DBs
NCBI-GeneID:
26509
NCBI-ProteinID:
NP_038479
OMIM:
604603
HGNC:
3656
Ensembl:
ENSG00000138119
Pharos:
Q9NZM1
(Tbio)
UniProt:
Q9NZM1
Structure
PDB
PDBj
LinkDB
All DBs
Position
10:complement(93306429..93482334)
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AA seq
2061 aa
AA seq
DB search
MLRVIVESASNIPKTKFGKPDPIVSVIFKDEKKKTKKVDNELNPVWNEILEFDLRGIPLD
FSSSLGIIVKDFETIGQNKLIGTATVALKDLTGDQSRSLPYKLISLLNEKGQDTGATIDL
VIGYDPPSAPHPNDLSGPSVPGMGGDGEEDEGDEDRLDNAVRGPGPKGPVGTVSEAQLAR
RLTKVKNSRRMLSNKPQDFQIRVRVIEGRQLSGNNIRPVVKVHVCGQTHRTRIKRGNNPF
FDELFFYNVNMTPSELMDEIISIRVYNSHSLRADCLMGEFKIDVGFVYDEPGHAVMRKWL
LLNDPEDTSSGSKGYMKVSMFVLGTGDEPPPERRDRDNDSDDVESNLLLPAGIALRWVTF
LLKIYRAEDIPQMDDAFSQTVKEIFGGNADKKNLVDPFVEVSFAGKKVCTNIIEKNANPE
WNQVVNLQIKFPSVCEKIKLTIYDWDRLTKNDVVGTTYLHLSKIAASGGEVEDFSSSGTG
AASYTVNTGETEVGFVPTFGPCYLNLYGSPREYTGFPDPYDELNTGKGEGVAYRGRILVE
LATFLEKTPPDKKLEPISNDDLLVVEKYQRRRKYSLSAVFHSATMLQDVGEAIQFEVSIG
NYGNKFDTTCKPLASTTQYSRAVFDGNYYYYLPWAHTKPVVTLTSYWEDISHRLDAVNTL
LAMAERLQTNIEALKSGIQGKIPANQLAELWLKLIDEVIEDTRYTLPLTEGKANVTVLDT
QIRKLRSRSLSQIHEAAVRMRSEATDVKSTLAEIEDWLDKLMQLTEEPQNSMPDIIIWMI
RGEKRLAYARIPAHQVLYSTSGENASGKYCGKTQTIFLKYPQEKNNGPKVPVELRVNIWL
GLSAVEKKFNSFAEGTFTVFAEMYENQALMFGKWGTSGLVGRHKFSDVTGKIKLKREFFL
PPKGWEWEGEWIVDPERSLLTEADAGHTEFTDEVYQNESRYPGGDWKPAEDTYTDANGDK
AASPSELTCPPGWEWEDDAWSYDINRAVDEKGWEYGITIPPDHKPKSWVAAEKMYHTHRR
RRLVRKRKKDLTQTASSTARAMEELQDQEGWEYASLIGWKFHWKQRSSDTFRRRRWRRKM
APSETHGAAAIFKLEGALGADTTEDGDEKSLEKQKHSATTVFGANTPIVSCNFDRVYIYH
LRCYVYQARNLLALDKDSFSDPYAHICFLHRSKTTEIIHSTLNPTWDQTIIFDEVEIYGE
PQTVLQNPPKVIMELFDNDQVGKDEFLGRSIFSPVVKLNSEMDITPKLLWHPVMNGDKAC
GDVLVTAELILRGKDGSNLPILPPQRAPNLYMVPQGIRPVVQLTAIEILAWGLRNMKNFQ
MASITSPSLVVECGGERVESVVIKNLKKTPNFPSSVLFMKVFLPKEELYMPPLVIKVIDH
RQFGRKPVVGQCTIERLDRFRCDPYAGKEDIVPQLKASLLSAPPCRDIVIEMEDTKPLLA
SKLTEKEEEIVDWWSKFYASSGEHEKCGQYIQKGYSKLKIYNCELENVAEFEGLTDFSDT
FKLYRGKSDENEDPSVVGEFKGSFRIYPLPDDPSVPAPPRQFRELPDSVPQECTVRIYIV
RGLELQPQDNNGLCDPYIKITLGKKVIEDRDHYIPNTLNPVFGRMYELSCYLPQEKDLKI
SVYDYDTFTRDEKVGETIIDLENRFLSRFGSHCGIPEEYCVSGVNTWRDQLRPTQLLQNV
ARFKGFPQPILSEDGSRIRYGGRDYSLDEFEANKILHQHLGAPEERLALHILRTQGLVPE
HVETRTLHSTFQPNISQGKLQMWVDVFPKSLGPPGPPFNITPRKAKKYYLRVIIWNTKDV
ILDEKSITGEEMSDIYVKGWIPGNEENKQKTDVHYRSLDGEGNFNWRFVFPFDYLPAEQL
CIVAKKEHFWSIDQTEFRIPPRLIIQIWDNDKFSLDDYLGFLELDLRHTIIPAKSPEKCR
LDMIPDLKAMNPLKAKTASLFEQKSMKGWWPCYAEKDGARVMAGKVEMTLEILNEKEADE
RPAGKGRDEPNMNPKLDLPNRPETSFLWFTNPCKTMKFIVWRRFKWVIIGLLFLLILLLF
VAVLLYSLPNYLSMKIVKPNV
NT seq
6186 nt
NT seq
+upstream
nt +downstream
nt
atgctgcgagtgattgtggaatctgccagcaatatccctaaaacgaaatttggcaagccg
gatcctattgtttctgtcatttttaaggatgagaaaaagaaaacaaagaaagttgataat
gaattgaaccctgtctggaatgagattttggagtttgacttgaggggtataccactggac
ttttcatcttcccttgggattattgtgaaagattttgagacaattggacaaaataaatta
attggcacggcgactgtagccctgaaggacctgactggtgaccagagcagatccctgccg
tacaagctgatctccctgctaaatgaaaaagggcaagatactggggccaccattgacttg
gtgatcggctatgatccgccttctgctccacatccaaatgacctgagcgggcccagcgtg
ccaggcatgggaggagatggggaagaagatgaaggtgatgaagacaggttggacaatgca
gtcaggggccctgggcccaaggggccagttgggacggtgtcggaagctcagcttgctcgg
aggctcaccaaagtaaagaacagccggcggatgctgtcaaataagccacaggacttccag
atccgcgtccgagtgattgagggccgacagttaagtggtaacaacataaggcctgtggtc
aaagttcacgtctgtggccagacacaccgaacaagaatcaagagaggaaacaaccctttt
tttgatgagttgtttttctacaatgtcaacatgaccccttctgaattgatggatgagatc
atcagcatccgggtttataattctcactctctgcgggcagattgtctgatgggggaattt
aagattgatgttggatttgtttatgatgaacctggccatgctgtcatgagaaagtggctt
cttctcaatgacccggaagataccagttcaggttctaaaggttatatgaaagtcagcatg
tttgtcctgggaaccggagatgagcctcctcctgagagacgagatcgtgataatgacagt
gatgatgtggagagtaatttgttactccctgctggcattgccctccggtgggtgaccttc
ttgctgaaaatctaccgagctgaggacatcccccagatggatgatgccttctcacagaca
gtaaaggaaatatttggaggcaatgcagataagaaaaatctcgtggatccttttgtagaa
gtttcctttgctggaaaaaaggtttgtacaaacataattgagaaaaatgcaaacccagag
tggaatcaggtcgtcaatcttcagatcaagtttccttcagtgtgtgaaaaaataaaacta
acaatatatgactgggaccgtcttactaaaaatgatgtagttggaacaacatatctacac
ctctctaaaattgctgcctctggtggggaagtggaagatttctcatcttcgggaactggg
gctgcatcatatacagtaaacacaggagaaacagaggtaggctttgttccaacgtttgga
ccttgttacctgaatctttatggaagccccagagagtacacgggattcccagacccctat
gatgagctgaatactggaaagggggaaggagttgcctacagaggcaggatcttggttgaa
ttagccacttttcttgagaagacaccaccagataaaaagcttgagcccatttcaaatgat
gacctgctggttgttgagaaataccagcgaaggcggaagtacagcctgtctgccgtgttt
cattcagccaccatgttgcaagatgttggtgaggccattcagtttgaagtcagcattggg
aactatggcaacaagtttgacaccacctgtaagcctttggcatcaacaactcagtacagc
cgtgctgtatttgatggcaactactattattacttgccttgggcccacaccaagccagtt
gttaccctgacttcatactgggaggatattagtcatcgcctggatgcggtgaacactctc
ctagctatggcagaacggctgcaaacaaatatagaagctctaaaatcagggatacaaggt
aaaattcctgcaaaccagctggctgaattgtggctgaagctgatagatgaagttatagaa
gacacgagatacacgttgcctctcacagaaggaaaagccaacgtcacagttctcgatact
cagatccgaaagctgcggtccaggtctctctcccaaatacatgaggcggctgtgaggatg
aggtcggaagccacagatgtgaagtccacactggcagaaattgaggactggcttgataaa
ttaatgcagctgactgaagagccacagaacagcatgcctgacatcatcatctggatgatc
cggggagagaagagactggcctatgcacgaattcccgcacatcaggtcttgtactccacc
agtggtgagaatgcatctggaaaatactgtgggaaaacccaaaccatctttctgaagtat
ccacaggagaaaaacaacgggccaaaggtgcctgtggagttgcgagtgaacatctggcta
ggcttaagtgctgtggagaagaagtttaacagcttcgcagaaggaactttcaccgtcttt
gctgaaatgtatgaaaatcaagctctcatgtttggaaaatggggtacttctggattagta
ggacgtcataagttttctgatgtcacaggaaaaataaaactcaagagggaattttttctg
cctccaaaaggctgggaatgggaaggagagtggatagttgatcctgaaagaagcttgctg
actgaggcagatgcaggtcacacggagttcactgatgaagtctatcagaacgagagccgc
taccccgggggcgactggaagccggccgaggacacctacacggatgcgaacggcgataaa
gcagcatcacccagcgagttgacttgtcctccaggttgggaatgggaagatgatgcatgg
tcttatgacataaatcgagcggtggatgagaaaggctgggaatatggaatcaccattcct
cctgatcataagcccaaatcctgggttgcagcagagaaaatgtaccacactcatagacgg
cgaaggctggtccgaaaacgcaagaaagatttaacacagactgcttcaagcaccgcaagg
gccatggaggaattgcaagaccaagagggctgggaatatgcttctctaattggctggaaa
tttcactggaaacaacgtagttcagataccttccgccgcagacgctggaggagaaaaatg
gctccttcagaaacacatggtgcagctgccatctttaaacttgaaggtgcccttggggca
gacactaccgaagatggggatgagaagagcctggagaaacagaagcacagtgccaccact
gtgttcggagcaaacacccccattgtttcctgcaattttgacagagtctacatctaccat
ctgcgctgctatgtctatcaagccagaaacctcttggctttagataaggatagcttttca
gatccatatgctcatatctgtttcctccatcggagcaaaaccactgagatcatccattca
accctgaatcccacgtgggaccaaacaattatattcgatgaagttgaaatctatggggaa
ccccaaacagttctacagaatccacccaaagttatcatggaactttttgacaatgaccaa
gtgggcaaagatgaatttttaggacgaagcattttctctcctgtggtgaaactgaactca
gaaatggacatcacacccaaacttctctggcacccagtaatgaatggagacaaagcctgc
ggggatgttcttgtaactgcagagctgattctgaggggcaaggatggctccaaccttccc
attcttccccctcaaagggcgccaaatctatacatggtcccccaggggatcaggcctgtg
gtccagctcactgccattgagattctagcttggggcttaagaaatatgaaaaacttccag
atggcttctatcacatcccccagtcttgttgtggagtgtggaggagaaagggtggaatcg
gtggtgatcaaaaaccttaagaagacacccaactttccaagttctgttctcttcatgaaa
gtgttcttgcccaaggaggaattgtacatgcccccactggtgatcaaggtcatcgaccac
aggcagtttgggcggaagcctgtcgtcggccagtgcaccatcgagcgcctggaccgcttt
cgctgtgacccttatgcagggaaagaggacatcgtcccacagctcaaagcctcccttctg
tctgccccaccatgccgggacatcgttatcgaaatggaagacaccaaaccattactggct
tctaagctgacagaaaaggaggaagaaatcgtggactggtggagtaaattttatgcttcc
tcaggggaacatgaaaaatgcggacagtatattcagaaaggctattccaagctcaagata
tataattgtgaactagaaaatgtagcagaatttgagggcctgacagacttctcagatacg
ttcaagttgtaccgaggcaagtcggatgaaaatgaagatccttctgtggttggagagttt
aagggctcctttcggatctaccctctgccggatgaccccagcgtgccagcccctcccaga
cagtttcgggaattacctgacagcgtcccacaggaatgcacggttaggatttacattgtt
cgaggcttagagctccagccccaggacaacaatggcctgtgtgacccttacataaaaata
acactgggcaaaaaagtcattgaagaccgagatcactacattcccaacactctcaaccca
gtctttggcaggatgtacgaactgagctgctacttacctcaagaaaaagacctgaaaatt
tctgtctatgattatgacacctttacccgggatgaaaaagtaggagaaacaattattgat
ctggaaaaccgattcctttcccgctttgggtcccactgcggcataccagaggagtactgt
gtttctggagtcaatacctggcgagatcaactgagaccaacacagctgcttcaaaatgtc
gccagattcaaaggcttcccacaacccatcctttccgaagatgggagtagaatcagatat
ggaggacgagactacagcttggatgaatttgaagccaacaaaatcctgcaccagcacctc
ggggcccctgaagagcggcttgctcttcacatcctcaggactcaggggctggtccctgag
cacgtggaaacaaggactttgcacagcaccttccagcccaacatttcccagggaaaactt
cagatgtgggtggatgttttccccaagagtttggggccaccaggccctcctttcaacatc
acaccccggaaagccaagaaatactacctgcgtgtgatcatctggaacaccaaggacgtt
atcttggacgagaaaagcatcacaggagaggaaatgagtgacatctacgtcaaaggctgg
attcctggcaatgaagaaaacaaacagaaaacagatgtccattacagatctttggatggt
gaagggaattttaactggcgatttgttttcccgtttgactaccttccagccgaacaactc
tgtatcgttgcgaaaaaagagcatttctggagtattgaccaaacggaatttcgaatccca
cccaggctgatcattcagatatgggacaatgacaagttttctctggatgactacttgggt
ttcctagaacttgacttgcgtcacacgatcattcctgcaaaatcaccagagaaatgcaga
ttggacatgattccggacctcaaagccatgaacccccttaaagccaagacagcctccctc
tttgagcagaagtccatgaaaggatggtggccatgctacgcagagaaagatggcgcccgc
gtaatggctgggaaagtggagatgacattggaaatcctcaacgagaaggaggccgacgag
aggccagccgggaaggggcgggacgaacccaacatgaaccccaagctggacttaccaaat
cgaccagaaacctccttcctctggttcaccaacccatgcaagaccatgaagttcatcgtg
tggcgccgctttaagtgggtcatcatcggcttgctgttcctgcttatcctgctgctcttc
gtggccgtgctcctctactctttgccgaactatttgtcaatgaagattgtaaagccaaat
gtgtaa
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