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
hsa04820  Cytoskeleton in muscle cells
Network
nt06541  Cytoskeleton in neurons
  Element
N01848  Membrane-associated periodic skeleton (MPS)
Disease
H02685  Developmental delay with neuropsychiatric disorders
Brite
KEGG Orthology (KO) [BR:hsa00001]
 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
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (18)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (27)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (24)   
DNA sequence (68)   
   RefSeq(nuc) (24)   
   GenBank (22)   
   EMBL (22)   
3D Structure (3)   
   PDB (3)   
Protein domain (8)   
   Pfam (8)   
All databases (126)   

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