KEGG   Homo sapiens (human): 6711
Entry
6711              CDS       T01001                                 
Symbol
SPTBN1, DDISBA, ELF, HEL102, SPTB2, betaSpII
Name
(RefSeq) spectrin beta, non-erythrocytic 1
  KO
K06115  spectrin beta, non-erythrocytic 1/4/5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
hsa04820  Cytoskeleton in muscle cells
Network
nt06541  Cytoskeleton in neurons
nt06546  IgSF CAM signaling
  Element
N01848  Membrane-associated periodic skeleton (MPS)
N01933  NrCAM interactions
N01934  L1CAM interactions
N01935  NFASC interactions
Disease
H02685  Developmental delay with neuropsychiatric disorders
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    6711 (SPTBN1)
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    6711 (SPTBN1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    6711 (SPTBN1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     6711 (SPTBN1)
  Intermediate filaments
   Intermediate filament-binding proteins
    6711 (SPTBN1)
SSDB
Motif
Pfam: Spectrin CH PH_9 PH CAMSAP_CH SLATT_6 SOS1_NGEF_PH PH_11
Other DBs
NCBI-GeneID: 6711
NCBI-ProteinID: NP_003119
OMIM: 182790
HGNC: 11275
Ensembl: ENSG00000115306
UniProt: Q01082 B2ZZ89
Structure
LinkDB
Position
2:54456327..54671446
AA seq 2364 aa
MTTTVATDYDNIEIQQQYSDVNNRWDVDDWDNENSSARLFERSRIKALADEREAVQKKTF
TKWVNSHLARVSCRITDLYTDLRDGRMLIKLLEVLSGERLPKPTKGRMRIHCLENVDKAL
QFLKEQRVHLENMGSHDIVDGNHRLTLGLIWTIILRFQIQDISVETEDNKEKKSAKDALL
LWCQMKTAGYPNVNIHNFTTSWRDGMAFNALIHKHRPDLIDFDKLKKSNAHYNLQNAFNL
AEQHLGLTKLLDPEDISVDHPDEKSIITYVVTYYHYFSKMKALAVEGKRIGKVLDNAIET
EKMIEKYESLASDLLEWIEQTIIILNNRKFANSLVGVQQQLQAFNTYRTVEKPPKFTEKG
NLEVLLFTIQSKMRANNQKVYMPREGKLISDINKAWERLEKAEHERELALRNELIRQEKL
EQLARRFDRKAAMRETWLSENQRLVSQDNFGFDLPAVEAATKKHEAIETDIAAYEERVQA
VVAVARELEAENYHDIKRITARKDNVIRLWEYLLELLRARRQRLEMNLGLQKIFQEMLYI
MDWMDEMKVLVLSQDYGKHLLGVEDLLQKHTLVEADIGIQAERVRGVNASAQKFATDGEG
YKPCDPQVIRDRVAHMEFCYQELCQLAAERRARLEESRRLWKFFWEMAEEEGWIREKEKI
LSSDDYGKDLTSVMRLLSKHRAFEDEMSGRSGHFEQAIKEGEDMIAEEHFGSEKIRERII
YIREQWANLEQLSAIRKKRLEEASLLHQFQADADDIDAWMLDILKIVSSSDVGHDEYSTQ
SLVKKHKDVAEEIANYRPTLDTLHEQASALPQEHAESPDVRGRLSGIEERYKEVAELTRL
RKQALQDTLALYKMFSEADACELWIDEKEQWLNNMQIPEKLEDLEVIQHRFESLEPEMNN
QASRVAVVNQIARQLMHSGHPSEKEIKAQQDKLNTRWSQFRELVDRKKDALLSALSIQNY
HLECNETKSWIREKTKVIESTQDLGNDLAGVMALQRKLTGMERDLVAIEAKLSDLQKEAE
KLESEHPDQAQAILSRLAEISDVWEEMKTTLKNREASLGEASKLQQFLRDLDDFQSWLSR
TQTAIASEDMPNTLTEAEKLLTQHENIKNEIDNYEEDYQKMRDMGEMVTQGQTDAQYMFL
RQRLQALDTGWNELHKMWENRQNLLSQSHAYQQFLRDTKQAEAFLNNQEYVLAHTEMPTT
LEGAEAAIKKQEDFMTTMDANEEKINAVVETGRRLVSDGNINSDRIQEKVDSIDDRHRKN
RETASELLMRLKDNRDLQKFLQDCQELSLWINEKMLTAQDMSYDEARNLHSKWLKHQAFM
AELASNKEWLDKIEKEGMQLISEKPETEAVVKEKLTGLHKMWEVLESTTQTKAQRLFDAN
KAELFTQSCADLDKWLHGLESQIQSDDYGKDLTSVNILLKKQQMLENQMEVRKKEIEELQ
SQAQALSQEGKSTDEVDSKRLTVQTKFMELLEPLNERKHNLLASKEIHQFNRDVEDEILW
VGERMPLATSTDHGHNLQTVQLLIKKNQTLQKEIQGHQPRIDDIFERSQNIVTDSSSLSA
EAIRQRLADLKQLWGLLIEETEKRHRRLEEAHRAQQYYFDAAEAEAWMSEQELYMMSEEK
AKDEQSAVSMLKKHQILEQAVEDYAETVHQLSKTSRALVADSHPESERISMRQSKVDKLY
AGLKDLAEERRGKLDERHRLFQLNREVDDLEQWIAEREVVAGSHELGQDYEHVTMLQERF
REFARDTGNIGQERVDTVNHLADELINSGHSDAATIAEWKDGLNEAWADLLELIDTRTQI
LAASYELHKFYHDAKEIFGRIQDKHKKLPEELGRDQNTVETLQRMHTTFEHDIQALGTQV
RQLQEDAARLQAAYAGDKADDIQKRENEVLEAWKSLLDACESRRVRLVDTGDKFRFFSMV
RDLMLWMEDVIRQIEAQEKPRDVSSVELLMNNHQGIKAEIDARNDSFTTCIELGKSLLAR
KHYASEEIKEKLLQLTEKRKEMIDKWEDRWEWLRLILEVHQFSRDASVAEAWLLGQEPYL
SSREIGQSVDEVEKLIKRHEAFEKSAATWDERFSALERLTTLELLEVRRQQEEEERKRRP
PSPEPSTKVSEEAESQQQWDTSKGEQVSQNGLPAEQGSPRMAETVDTSEMVNGATEQRTS
SKESSPIPSPTSDRKAKTALPAQSAATLPARTQETPSAQMEGFLNRKHEWEAHNKKASSR
SWHNVYCVINNQEMGFYKDAKTAASGIPYHSEVPVSLKEAVCEVALDYKKKKHVFKLRLN
DGNEYLFQAKDDEEMNTWIQAISSAISSDKHEVSASTQSTPASSRAQTLPTSVVTITSES
SPGKREKDKEKDKEKRFSLFGKKK
NT seq 7095 nt   +upstreamnt  +downstreamnt
atgacgaccacagtagccacagactatgacaacattgagatccagcagcagtacagtgat
gtcaacaaccgctgggatgtcgacgactgggacaatgagaacagctctgcgcggcttttt
gagcggtcccgcatcaaggctctggcagatgagcgtgaagccgtgcagaagaagaccttc
accaagtgggtcaattcccaccttgcccgtgtgtcctgccggatcacagacctgtacact
gaccttcgagatggacggatgctcatcaagctgctggaggtcctctctggagagaggctg
cctaaacccaccaagggacgaatgcgcatccactgcttagagaatgtggacaaggccctt
cagttcctgaaggagcagagagtccatcttgagaacatggggtcccatgacatcgtggat
ggaaaccaccggctgacccttggcctcatctggaccatcatcctgcgcttccagatccag
gatatcagtgtggaaactgaagacaacaaagagaagaaatctgccaaggatgcattgctg
ttgtggtgccagatgaagacagctgggtaccccaatgtcaacattcacaatttcaccact
agctggagggacggcatggccttcaatgcactgatacacaaacaccggcctgacctgata
gattttgacaaactaaagaaatctaacgcacactacaacctgcagaatgcatttaatctg
gcagaacagcacctcggcctcactaaactgttggaccccgaagacatcagcgtggaccat
cctgatgagaagtccataatcacttatgtggtgacttattaccactacttctctaagatg
aaggccttagctgttgaaggaaaacgaattggaaaggtgcttgacaatgctattgaaaca
gaaaaaatgattgaaaagtatgaatcacttgcctctgaccttctggaatggattgaacaa
accatcatcattctgaacaatcgcaaatttgccaattcactggtcggggttcaacagcag
cttcaggcattcaacacttaccgcactgtggagaaaccacccaaatttactgagaagggg
aacttggaagtgctgctcttcaccattcagagcaagatgagggccaacaaccagaaggtc
tacatgccccgggaggggaagctcatctctgacatcaacaaggcctgggaaagactggaa
aaagcggaacacgaaagagaactggctttgcggaatgagctcataagacaggagaaactg
gaacagctcgcccgcagatttgatcgcaaggcagctatgagggagacttggctgagcgaa
aaccagcgtctggtgtctcaggacaactttgggtttgaccttcctgcagttgaggccgcc
acaaaaaagcacgaggccattgagacagacattgccgcatacgaggagcgtgtgcaggct
gtggtagccgtggccagggagctcgaggccgagaattaccacgacatcaagcgcatcaca
gcgaggaaggacaatgtcatccggctctgggaatacctactggaactgctcagggcccgg
agacagcggctcgagatgaacctggggctgcagaagatattccaggaaatgctctacatt
atggactggatggatgaaatgaaggtgctagtattgtctcaagactatggcaaacactta
cttggtgtggaagacctgttacagaagcacaccctggttgaagcagacattggcatccag
gcagagcgggtgagaggtgtcaatgcctccgcccagaagttcgcaacagacggggaaggt
tacaagccctgtgacccccaggtgatccgagaccgcgtggcccacatggagttctgttat
caagagctttgccagctggcggctgagcgcagggcccgtctggaagagtcccgccgcctc
tggaagttcttctgggagatggcagaagaggaaggctggatacgggagaaggagaagatc
ctgtcctcggacgattacgggaaagacctgaccagcgtcatgcgcctgctcagcaagcac
cgggcgttcgaggacgagatgagcggccgcagtggccactttgagcaggccatcaaggaa
ggcgaagacatgatcgcggaggagcacttcgggtcggagaagatccgtgagaggatcatt
tacatccgggagcagtgggccaacctagagcagctctcggccattcggaagaagcgcctg
gaggaggcctccctgctgcaccagttccaggcagatgctgatgacattgatgcctggatg
ctggacatcctcaagattgtctccagcagcgacgtgggccacgatgagtattccacacag
tctctggtcaagaaacacaaggacgtggcggaagagatcgccaattacaggcccaccctt
gacacgctgcacgaacaagccagcgccctcccccaggagcatgccgagtctccagacgtg
aggggcaggctgtcgggcatcgaggagcggtataaggaggtggcagagctgacgcggctg
cggaagcaggcactccaggacactctggccctgtacaagatgttcagcgaggctgatgcc
tgtgagctctggatcgacgagaaggagcagtggctcaacaacatgcagatcccagagaag
ctggaggatctggaggtcatccagcacagatttgagagcctagaaccagaaatgaacaac
caggcttcccgggttgcagtggtgaaccagattgcacgccagctgatgcacagcggccac
ccaagtgagaaggaaatcaaagcccagcaggacaaactcaacacaaggtggagccagttc
agagaactggttgacaggaagaaggatgccctcctgtctgccctgagcatccagaactac
cacctcgagtgcaatgaaaccaaatcctggattcgggaaaagaccaaggtcatcgagtcc
acccaggacctgggcaatgacctggctggcgtcatggccctgcagcgcaagctgaccggc
atggagcgggacttggtggccattgaggcaaagctgagtgacctgcagaaggaggcggag
aagctggagtccgagcaccccgaccaggcccaggccatcctgtctcggctggccgagatc
agcgacgtgtgggaggagatgaagaccaccctgaaaaaccgagaggcctccctgggagag
gccagcaagctgcagcagttcctacgggacttggacgacttccagtcctggctctctagg
acccagacagcgatcgcctcggaggacatgccaaacaccctgaccgaggctgagaagctg
ctcacgcagcacgagaacatcaagaacgagatcgacaactacgaggaggactaccagaag
atgagggacatgggcgagatggtcacccaggggcagaccgatgcccagtacatgtttctg
cggcagcggctgcaggccctggacactggatggaacgagctccacaagatgtgggagaac
agacaaaatctcctatcccagtcacatgcctaccagcagttcctcagagacacgaagcaa
gccgaagcctttcttaacaaccaggagtatgttctggctcacactgaaatgcctaccacc
ttggaaggagctgaagcagcaattaaaaagcaagaggacttcatgaccaccatggacgcc
aatgaggagaagatcaatgctgtggtggagactggccggaggctggtgagcgatgggaac
atcaactcagatcgcatccaggagaaggtggactctattgatgacagacataggaagaat
cgtgagacagccagtgaacttttgatgaggttgaaggacaacagggatctacagaaattc
ctgcaagattgtcaagagctgtctctctggatcaatgagaagatgctcacagcccaggac
atgtcttacgatgaagccagaaatctgcacagtaaatggttgaagcatcaagcatttatg
gcagaacttgcatccaacaaagaatggcttgacaaaatcgagaaggaaggaatgcagctc
atttcagaaaagcctgagacggaagctgtggtgaaggagaaactcactggtttacataaa
atgtgggaagtccttgaatccactacccagacaaaggcccagcggctctttgatgcaaac
aaggccgaacttttcacccagagctgtgcagatctagacaaatggctgcacggcctggag
agtcagattcagtctgatgactatggcaaagacctgaccagtgtcaatatcctgctgaaa
aagcaacagatgctggagaatcagatggaagtgcggaagaaggagatcgaagagctccaa
agccaagcccaggccctgagtcaggaagggaagagcaccgacgaggtagacagcaagcgc
ctcaccgtgcagaccaagttcatggagttgctggagcccttgaacgagaggaagcataac
ctgctggcctccaaagagatccatcagttcaacagggatgtggaggacgagatcttgtgg
gttggagagaggatgcctttggcaacttccacggatcatggccacaacctccagactgtg
cagctgttaataaagaaaaatcagaccctccagaaagaaatccaggggcaccagcctcgc
attgacgacatctttgagaggagccaaaacatcgtcactgacagcagcagcctcagcgct
gaggccatcagacagaggcttgccgacctgaagcagctgtggggtctcctcattgaggag
acagagaaacgccacaggcggctggaggaggcgcacagggcccagcagtactactttgac
gctgctgaggccgaagcctggatgagcgagcaggagctgtacatgatgtcagaggagaag
gccaaggatgagcagagtgctgtctccatgttgaagaagcaccagatcttagaacaagct
gtggaggactatgcagagaccgtgcatcagctctccaagaccagccgggccctggtggcc
gacagccatcctgaaagtgagcgcattagcatgcggcagtccaaagtggataaactgtac
gctggtctgaaagaccttgctgaagagagaagaggcaagctggatgagagacacaggtta
ttccagctcaaccgggaggtggacgacctggagcagtggatcgctgagagggaggtggtc
gcagggtcccatgaactgggacaggactatgagcatgtcacgatgttacaagaacgattc
cgggagtttgcccgagacaccgggaacattgggcaggagcgcgtggacacggtcaatcac
ctggcagatgagctcatcaactctggacattcagatgccgccaccatcgctgaatggaag
gatggcctcaatgaagcctgggccgacctcctggagctcattgacacaagaacacagatt
cttgccgcttcctatgaactgcacaagttttaccacgatgccaaggagatctttgggcgt
atacaggacaaacacaagaaactccctgaggagcttgggagagatcagaacacagtggag
accttacagagaatgcacactacatttgagcatgacatccaggctctgggcacacaggtg
aggcagctgcaggaggatgcagcccgcctccaggcggcctatgcgggtgacaaggccgac
gatatccagaagcgcgagaacgaggtcctggaagcctggaagtccctcctggacgcctgt
gagagccgcagggtgcggctggtggacacaggggacaagttccgcttcttcagcatggtg
cgcgacctcatgctctggatggaggatgtcatccggcagatcgaggcccaggagaagcca
agggatgtatcatctgttgaactcttaatgaataatcatcaaggcatcaaagctgaaatt
gatgcacgtaatgacagtttcacaacctgcattgaacttgggaaatccctgttggcgaga
aaacactatgcatctgaggagatcaaggaaaaattactgcagttgacggaaaagaggaaa
gaaatgatcgacaagtgggaagaccgatgggaatggttaagactgattctggaggtccat
cagttctcaagagacgccagtgtggccgaggcctggctgcttggacaggagccgtaccta
tccagccgagagataggccagagcgtggacgaggtggagaagctcatcaagcgccacgag
gcatttgaaaagtctgcagcaacctgggatgagaggttctctgccctggaaaggctgact
acattggagttactggaagtgcgcagacagcaagaggaagaggagaggaagaggcggccg
ccttctcccgagccgagcacgaaggtttcagaggaagccgagtcccagcagcagtgggat
acttcaaaaggagaacaagtttcccaaaacggtttgccagctgaacagggatctccacgg
atggcagaaacggtggacacaagcgaaatggtcaacggcgctacagaacaaaggacgagc
tctaaagagtccagccccatcccctccccgacctctgatcgtaaagccaagactgccctc
ccagcccagagtgccgccaccttaccagccagaacccaggagacaccttcggcccagatg
gaaggcttcctcaatcggaaacacgagtgggaggcccacaataagaaagcctcaagcagg
tcctggcacaatgtttattgtgtcataaataaccaagaaatgggtttctacaaagatgca
aagactgctgcttctggaattccctaccacagcgaggtccctgtgagtttgaaagaagct
gtctgcgaagtggcccttgattacaaaaagaagaaacacgtattcaagctaagactaaat
gatggcaatgagtacctcttccaagccaaagacgatgaggaaatgaacacatggatccag
gctatctcttccgccatctcctctgataaacacgaggtgtctgccagcacccagagcacg
ccagcatccagccgcgcgcagaccctccccaccagcgtcgtcaccatcaccagcgagtcc
agtcccggcaagcgggaaaaggacaaagagaaagacaaagagaagcggttcagccttttt
ggcaaaaagaaatga

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