KEGG   Homo sapiens (human): 57731
Entry
57731             CDS       T01001                                 
Symbol
SPTBN4, CMND, NEDHND, QV, SPNB4, SPTBN3
Name
(RefSeq) spectrin beta, non-erythrocytic 4
  KO
K06115  spectrin beta, non-erythrocytic 1/4/5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
Disease
H01810  Congenital myopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    57731 (SPTBN4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    57731 (SPTBN4)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     57731 (SPTBN4)
  Intermediate filaments
   Intermediate filament-binding proteins
    57731 (SPTBN4)
SSDB
Motif
Pfam: Spectrin CH PH_9 PH PH_11
Other DBs
NCBI-GeneID: 57731
NCBI-ProteinID: NP_066022
OMIM: 606214
HGNC: 14896
Ensembl: ENSG00000160460
UniProt: Q9H254
LinkDB
Position
19:40467001..40576464
AA seq 2564 aa
MAQVPGEVDNMEGLPAPNNNPAARWESPDRGWEREQPAASTAAASLFECSRIKALADERE
AVQKKTFTKWVNSHLARVGCHIGDLYVDLRDGFVLTRLLEVLSGEQLPRPTRGRMRIHSL
ENVDKALQFLKEQRVHLENVGSHDIVDGNHRLTLGLVWTIILRFQIQVIKIETEDNRETR
SAKDALLLWCQMKTAGYPEVNIQNFTTSWRDGLAFNALIHRHRPDLVDFSKLTKSNANYN
LQRAFRTAEQHLGLARLLDPEDVNMEAPDEKSIITYVVSFYHYFSKMKALAVEGKRIGKV
LDQVLEVGKIIERYEELAAELLAWIHRTVGLISNQKFANSLSGVQQQLQAFTAYCTLEKP
VKFQEKGNLEVLLFSIQSKLRACNRRLFVPREGCGIWDIDKAWGELEKAEHEREAALRAE
LIRQEKLELLAQRFDHKVAMRESWLNENQRLVSQDNFGYELPAVEAAMKKHEAIEADIAA
YEERVQGVAELAQALAAEGYYDIRRVAAQRDSVLRQWALLTGLVGARRTRLEQNLALQKV
FQEMVYMVDWMEEMQAQLLSRECGQHLVEADDLLQKHGLLEGDIAAQSERVEALNAAALR
FSQLQGYQPCDPQVICNRVNHVHGCLAELQEQAARRRAELEASRSLWALLQELEEAESWA
RDKERLLEAAGGGGAAGAAGAAGTAGGAHDLSSTARLLAQHKILQGELGGRRALLQQALR
CGEELVAAGGAVGPGADTVHLVGLAERAASARRRWQRLEEAAARRERRLQEARALHQFGA
DLDGLLDWLRDAYRLAAAGDFGHDEASSRRLARQHRALTGEVEAHRGPVSGLRRQLATLG
GASGAGPLVVALQVRVVEAEQLFAEVTEVAALRRQWLRDALAVYRMFGEVHACELWIGEK
EQWLLSMRVPDSLDDVEVVQHRFESLDQEMNSLMGRVLDVNHTVQELVEGGHPSSDEVRS
CQDHLNSRWNRIVELVEQRKEEMSAVLLVENHVLEVAEVRAQVREKRRAVESAPRAGGAL
QWRLSGLEAALQALEPRQAALLEEAALLAERFPAQAARLHQGAEELGAEWGALASAAQAC
GEAVAAAGRLQRFLHDLDAFLDWLVRAQEAAGGSEGPLPNSLEEADALLARHAALKEEVD
QREEDYARIVAASEALLAADGAELGPGLALDEWLPHLELGWHKLLGLWEARREALVQAHI
YQLFLRDLRQALVVLRNQEMALSGAELPGTVESVEEALKQHRDFLTTMELSQQKMQVAVQ
AAEGLLRQGNIYGEQAQEAVTRLLEKNQENQLRAQQWMQKLHDQLELQHFLRDCHELDGW
IHEKMLMARDGTREDNHKLHKRWLRHQAFMAELAQNKEWLEKIEREGQQLMQEKPELAAS
VRKKLGEIRQCWAELESTTQAKARQLFEASKADQLVQSFAELDKKLLHMESQLQDVDPGG
DLATVNSQLKKLQSMESQVEEWYREVGELQAQTAALPLEPASKELVGERQNAVGERLVRL
LEPLQERRRLLLASKELHQVAHDLDDELAWVQERLPLAMQTERGNGLQAVQQHIKKNQGL
RREIQAHGPRLEEVLERAGALASLRSPEAEAVRRGLEQLQSAWAGLREAAERRQQVLDAA
FQVEQYYFDVAEVEAWLGEQELLMMSEDKGKDEQSTLQLLKKHLQLEQGVENYEESIAQL
SRQCRALLEMGHPDSEQISRRQSQVDRLYVALKELGEERRVALEQQYWLYQLSRQVSELE
HWIAEKEVVAGSPELGQDFEHVSVLQEKFSEFASETGMAGRERLAAVNQMVDELIECGHT
AAATMAEWKDGLNEAWAELLELMGTRAQLLAASRELHKFFSDARELQGQIEEKRRRLPRL
TTPPEPRPSASSMQRTLRAFEHDLQLLVSQVRQLQEGAAQLRTVYAGEHAEAIASREQEV
LQGWKELLSACEDARLHVSSTADALRFHSQVRDLLSWMDGIASQIGAADKPRDVSSVEVL
MNYHQGLKTELEARVPELTTCQELGRSLLLNKSAMADEIQAQLDKLGTRKEEVSEKWDRH
WEWLQQMLEVHQFAQEAVVADAWLTAQEPLLQSRELGSSVDEVEQLIRRHEAFRKAAAAW
EERFSSLRRLTTIEKIKAEQSKQPPTPLLGRKFFGDPTELAAKAAPLLRPGGYERGLEPL
ARRASDTLSAEVRTRVGYVRQELKPERLQPRIDRLPEIPGRVEPAALPAAPEDAAETPAT
PAAAEQVRPRPERQESADRAEELPRRRRPERQESVDQSEEAARRRRPERQESAEHEAAHS
LTLGRYEQMERRRERRERRLERQESSEQEMPIRGDLVKGKATLADIVEQLQEKEAGPGLP
AGPSLPQPRELPPGRLPNGLELPERTPRPDRPRARDRPKPRRRPRPREGGEGGGSRRSRS
APAQGGSAPAPPPPPTHTVQHEGFLLRKRELDANRKSSNRSWVSLYCVLSKGELGFYKDS
KGPASGSTHGGEPLLSLHKATSEVASDYKKKKHVFKLQTQDGSEFLLQAKDEEEMNGWLE
AVASSVAEHAEIARWGQTLPTTSSTDEGNPKREGGDRRASGRRK
NT seq 7695 nt   +upstreamnt  +downstreamnt
atggcgcaggtaccaggggaagtggacaacatggagggcctgcctgctcctaacaacaac
cctgctgcccgctgggagagtccggatcggggctgggagcgggagcagccggctgcgtcc
accgcagcggcctcgctctttgagtgctcccggatcaaggccttggcagatgagcgggaa
gccgtgcagaagaaaaccttcaccaagtgggtgaactcgcacctcgcccgcgtgggctgc
cacatcggggacctctatgtggacctccgggacggcttcgtgctcacgcggctcctggaa
gtgctgtctggggagcagctgcccaggcccacgcgcggccgcatgcggatccactcactg
gagaacgtggacaaggcgctgcagtttctgaaggagcagcgcgtgcacctggagaacgtg
ggttcgcatgacatcgtggatgggaatcaccggctgacgctggggctggtctggaccatc
atcctgcgcttccagattcaagtcatcaaaattgagactgaggacaacagagagacacgc
tcagccaaggatgctctgctcttgtggtgtcagatgaagacagctggttaccctgaggta
aacatccagaatttcaccaccagctggcgggatggcttggccttcaatgccctcattcac
cggcacaggcctgatctcgtggacttcagcaaactcaccaagtccaatgccaactacaac
ctgcagagagccttccgcacagctgagcagcacctggggctggcgcggctgctggatcct
gaagatgtgaacatggaggctccagatgagaagtccatcatcacctacgtggtctctttc
taccactatttctccaagatgaaggctctggctgtggaggggaagcgtatcgggaaggtc
ttggaccaggtattggaggtggggaagatcatagaacgctacgaggagctggcggctgag
ctgctggcctggatccaccgcaccgtgggcctcatcagcaatcagaaatttgccaactcc
ttaagtggggtgcagcagcaactccaggctttcacggcctattgcacgctggagaagcct
gtcaagttccaggagaaggggaacctagaggtgctgctcttcagcatccagagcaaactg
cgtgcctgcaaccgtcgcctctttgtgcctcgggagggctgtggcatctgggatattgac
aaggcatggggtgagctggagaaggctgagcatgagcgggaggctgccctacgggctgag
ctgattcggcaggagaagctggaactactggcacagaggtttgaccacaaggtggctatg
agggagagctggctgaatgagaaccagcgtctggtctcccaggacaactttgggtatgag
ctgcccgcagtggaggcagccatgaagaaacacgaagcgatcgaggcagacattgcggcc
tacgaggagcgggtgcagggtgtggcggagctggcccaggcattggcagccgaaggctac
tacgatatccggcgggtggcagcccagcgtgacagcgtcctgcgccagtgggccctgcta
actgggcttgtgggtgcccggcggacacgacttgagcagaaccttgccctgcagaaggtc
ttccaggagatggtgtacatggtggactggatggaggagatgcaggctcagctgctgtcc
cgggagtgtgggcagcacctggtggaggcagacgacctgttgcagaagcatggactgctg
gagggagacattgccgcccagagcgagcgggtggaggctctcaatgccgctgccctgcgc
ttctcccagctgcagggctaccagccctgcgacccgcaggtcatctgcaaccgcgtgaac
cacgtgcacggctgcctggcggagctgcaggagcaggcagcgcggcgacgcgcggagctg
gaggcttcgcggagcctgtgggcgctgctgcaggagctggaggaggccgagagctgggcg
cgcgacaaggagcgtctcctggaggctgcgggcggcggcggtgcggcgggcgcagcgggc
gcagcgggaacagcgggcggcgcgcatgacctgtccagcacagcgcgcctcctggcccag
cacaagatcctgcagggcgagctgggcgggcggcgagcgttgctgcagcaggccctgcgg
tgtggcgaggagctggttgcggccggcggtgccgtcggcccgggagcagacaccgtgcac
ctggtaggcctggcggagcgcgcggcgagcgcccggcgccgctggcagaggctggaagag
gcggcggcgcggcgagagcggcggctgcaggaggcgcgggcgctgcaccagttcggcgct
gacctcgacgggctgctggactggcttcgcgacgcttaccgcctggcagccgccggtgac
ttcggccacgacgaagcttccagccgccgcctggcgcgccagcaccgcgcgctcaccggg
gaggtggaggcacatcgcgggcccgtgagcggcctgcggcgccagctggcgacactcggg
ggtgccagtggcgcagggccactggtggtggcgctgcaggtgcgcgtggtggaagcagag
cagttgttcgctgaggtgaccgaagtggcggcgctgaggcgccagtggctgcgggacgcg
ctcgctgtctaccgcatgtttggcgaggtgcacgcgtgtgagctgtggatcggcgagaag
gagcaatggctgctctccatgcgtgtgccggattcactcgacgacgtcgaggtggtgcag
caccgattcgagagcctggaccaagagatgaacagcctgatgggccgcgttctggacgtg
aaccacacagtccaggagctggtggaaggaggccaccccagttcagatgaggtgcgttcc
tgccaggaccacctcaacagcaggtggaaccgcatcgtggagctagtggaacagcgcaaa
gaggaaatgagcgcggtgctgctggtggagaaccacgtgctggaggtggccgaggtgcgc
gcccaggtgcgtgagaagcggagagctgtggagagcgcgccccgggccggcggcgccctg
cagtggcgtcttagcggcctagaggccgctctgcaggcgctggagccgcgccaggcggcc
cttctggaggaggcagccctgctggctgagcgcttcccggcgcaggcggcgcggctgcac
cagggcgcggaggagctgggcgccgagtggggcgcgctagctagcgcggctcaggcctgc
ggcgaggcggtggcggcagcagggcgcctgcagcgcttcctacatgacctcgacgctttc
ctggactggctcgtgcgcgcccaggaggcggcgggcggcagcgaggggcccctgcccaac
agcctagaagaggcggacgcgctgctggcgcgccacgctgcgctcaaggaggaggtggac
cagcgcgaggaagactatgctcgcatcgtggcggccagcgaggcgctgctggccgccgac
ggcgcagagctgggcccgggcctggcactagacgagtggctgccacacctcgaacttggc
tggcataaactgctcggcttgtgggaggcgcgcagggaggcgctggtccaggcgcacatc
taccagctcttcctgcgggatctacgccaggcgctcgtggtgctgcgtaaccaggagatg
gcgctgtctggtgcggagctcccgggcacagtggaatcggtggaggaggccttgaaacag
caccgtgactttctcaccaccatggagctgagccagcaaaagatgcaggtggccgtgcag
gctgcagagggcctgctgaggcagggcaacatctacggggagcaggctcaggaggctgtg
acccggctgctggagaagaaccaagaaaaccagttacgggcccagcaatggatgcaaaag
ctacatgaccaacttgagctgcagcacttcctccgagactgccacgagctggatggctgg
atccatgagaagatgctgatggcgcgggatggcacgcgggaggacaaccacaagctgcat
aagagatggctccggcaccaggcattcatggccgagctggctcagaataaggagtggctg
gagaagatcgagcgggagggccagcaactgatgcaggagaagcccgaactggcggcctcc
gtgcggaagaagctgggcgagatccgccagtgctgggcggagctggagagcaccacccag
gccaaggcacggcagctctttgaggccagcaaagcagaccagctggtgcagagctttgct
gagctggacaagaagctccttcacatggagagccagctgcaagacgtggaccctggagga
gacctggccactgtcaacagtcagctcaagaagctgcagtccatggagtcgcaggtggag
gagtggtaccgcgaggtgggagagctgcaggcgcagacggcggcgctgccgctggagccg
gcgagcaaggagctggtgggtgagcggcagaacgcggtgggcgagcgcctggtgcgcctg
ctcgagccgttgcaggagcgccgccgcttgctgctggcttccaaggagttgcaccaggtg
gcgcacgacctggacgacgagctggcatgggttcaggagcggctgccactggccatgcag
acagagcgaggcaacggtttgcaggcggtccagcagcacatcaaaaagaaccagggcctg
cggcgggagatccaggcgcatgggccgcgcctggaggaggtgctggagcgcgcgggcgcg
ctggcgtcgctgcgcagcccggaggcagaggcagtgcgccggggcctggagcagctgcag
agcgcctgggccggactgcgggaggctgccgagcgacggcagcaggtgctggacgccgcc
ttccaggtggagcagtactacttcgacgtggctgaggtggaggcgtggctgggcgagcag
gagctgctcatgatgagtgaggacaagggcaaggacgaacagagcaccctgcagctgctc
aagaaacacctgcagctggagcaaggcgtggagaactacgaggaaagcatcgcgcagctg
tcgcgccagtgccgggcgctgctggagatggggcacccggacagcgagcagatcagccgg
cggcagtctcaggtggaccgcctgtacgtggcgctcaaggagctgggtgaggagcgccgg
gtggctctggaacagcagtactggctgtaccagctcagccgccaggtgagcgagcttgag
cactggattgccgagaaggaggtggtggctggctcacccgagctcggccaggactttgag
catgtctcggtgctgcaggagaaattctcagagtttgccagcgagacaggtatggcaggg
cgggaacggctggcagctgtgaaccagatggtggatgagctgatcgagtgtggccataca
gcagcggccaccatggccgagtggaaggacggactgaacgaggcctgggctgagctgctg
gagctcatgggcacacgggcccagctgctggccgcctctcgggagcttcataagttcttc
agtgacgcccgagagcttcagggacagattgaggagaagcggaggcggctgccccgcctg
accaccccgcctgagccgagacccagtgccagttccatgcagcggaccctgagagccttt
gagcatgacctgcagctcctcgtgtcccaggtacggcagctgcaggagggggcggcccag
ctgcggacggtgtatgcgggtgaacatgccgaggccatcgctagccgggagcaggaggtg
ctgcagggttggaaagagctgctgtcagcctgtgaggatgcccgcctgcatgtcagctcc
acagccgacgccctgcgcttccacagccaagtccgcgacctgctctcctggatggatggc
atcgccagccagattggggcagccgacaagcccagggacgtgtcatcagtggaggtgctc
atgaactaccaccagggcctgaagactgagctggaggcgcgggtgcctgagctgaccacc
tgccaggagctggggcgatctctgctgctcaacaaaagtgccatggctgatgagatccag
gcacagctggacaagctgggaaccaggaaggaggaggtgtcggaaaagtgggaccgccat
tgggagtggctgcagcagatgctggaggtgcaccagtttgcccaggaggcggtggtggct
gatgcctggctgacagcccaggagccgctcctgcagagccgggagctgggcagcagcgtg
gatgaggtggagcagcttatccggcgacatgaggccttccgcaaagcggctgcagcctgg
gaagagaggttcagctctctgcggcgcctgaccacgatcgagaaaatcaaagcggaacag
agcaagcagccgcctaccccactgctggggcgcaagttctttggggaccccacggaactg
gcggccaaggcggcgcccctgctgcggccagggggctatgaaaggggcttggagcccctg
gcccgccgagcctcggacacgctctcggccgaggtgcggactcgggtggggtatgtgcgc
caggagctcaagcccgagcgcctccagccgcgcattgaccggctgccggagatcccgggg
agggtggagcccgcggccctgccggccgcaccagaggacgcggcggagacccccgcgacc
cccgcggcggcggagcaggtgcggccacgaccggagcgccaggagtcagctgatcgcgcg
gaggagctgcccaggaggcggcggcctgagcggcaagagtcagtcgatcaatccgaggag
gctgcgcggaggcggcggccggagcggcaggagtcagcggagcacgaggcggcacacagc
cttaccctgggccgctatgagcagatggagcggcggcgcgagcggcgtgagcggcgcttg
gagcggcaggagtccagcgaacaggagatgcccatcagaggagacctggtcaaggggaag
gccaccctggctgacattgtggaacagctgcaggagaaagaggcaggcccagggctgcct
gctgggccgtcgctgcctcagccacgcgagcttcccccaggtcgcctgcccaacgggctt
gagctgcccgagcggacacctcggccggaccggccccgggcgcgggaccggcccaagccg
cgacggcggccgcggcccagagagggtggtgagggcgggggaagccggcgctcgcgctcc
gccccggcccagggcggctccgcccccgcgcctccgccaccgcccactcacacagtgcag
cacgagggcttcctactgcgcaagcgcgagctcgacgctaaccgcaagtcgtccaaccgg
tcgtgggtgagcctgtactgtgtgcttagtaagggggaactgggcttctacaaggactcc
aagggcccggcatccgggagcacacacggtggggaaccgctgctcagcctgcacaaggcc
accagcgaggtggctagtgactacaagaaaaagaagcatgtcttcaagctccagacccag
gatggcagtgagtttttgctccaggcaaaagatgaggaggagatgaacggctggctggag
gctgtagcttcctcggtggcggaacacgcagagatcgcccgctggggccagacactaccc
actacttcatccacagatgagggcaaccctaagagggaaggcggagatcgcagggccagc
gggcgcaggaagtga

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