• Gene id: 6711

Gene Summary

• Gene Symbol: SPTBN1   Gene   UCSC   Ensembl
• Aliases: ELF, HEL102, SPTB2, betaSpII
• Gene name: spectrin beta, non-erythrocytic 1
• Alternate names: spectrin beta chain, non-erythrocytic 1, beta-G spectrin, beta-II spectrin, beta-fodrin, beta-spectrin 2, beta-spectrin II, beta-spectrin non-erythrocytic 1, embryonic liver beta-fodrin, epididymis luminal protein 102, fodrin beta chain, spectrin beta chain, brain ,
• Gene location: 2p16.2 (54456326: 54671445)     Exons: 39     NC_000002.12
• Gene summary(Entrez): Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is compo
• OMIM: 182790

Protein Summary

• Protein general information: Q01082  
  • Name: Spectrin beta chain, non erythrocytic 1 (Beta II spectrin) (Fodrin beta chain) (Spectrin, non erythroid beta chain 1)
  • Length: 2364  
  • Mass: 274609
  • Tissue specificity: Isoform 2 is present in brain, lung and kidney (at protein level). {ECO
• Sequence:

  MTTTVATDYDNIEIQQQYSDVNNRWDVDDWDNENSSARLFERSRIKALADEREAVQKKTFTKWVNSHLARVSCRI
  TDLYTDLRDGRMLIKLLEVLSGERLPKPTKGRMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLTLGLI
  WTIILRFQIQDISVETEDNKEKKSAKDALLLWCQMKTAGYPNVNIHNFTTSWRDGMAFNALIHKHRPDLIDFDKL
  KKSNAHYNLQNAFNLAEQHLGLTKLLDPEDISVDHPDEKSIITYVVTYYHYFSKMKALAVEGKRIGKVLDNAIET
  EKMIEKYESLASDLLEWIEQTIIILNNRKFANSLVGVQQQLQAFNTYRTVEKPPKFTEKGNLEVLLFTIQSKMRA
  NNQKVYMPREGKLISDINKAWERLEKAEHERELALRNELIRQEKLEQLARRFDRKAAMRETWLSENQRLVSQDNF
  GFDLPAVEAATKKHEAIETDIAAYEERVQAVVAVARELEAENYHDIKRITARKDNVIRLWEYLLELLRARRQRLE
  MNLGLQKIFQEMLYIMDWMDEMKVLVLSQDYGKHLLGVEDLLQKHTLVEADIGIQAERVRGVNASAQKFATDGEG
  YKPCDPQVIRDRVAHMEFCYQELCQLAAERRARLEESRRLWKFFWEMAEEEGWIREKEKILSSDDYGKDLTSVMR
  LLSKHRAFEDEMSGRSGHFEQAIKEGEDMIAEEHFGSEKIRERIIYIREQWANLEQLSAIRKKRLEEASLLHQFQ
  ADADDIDAWMLDILKIVSSSDVGHDEYSTQSLVKKHKDVAEEIANYRPTLDTLHEQASALPQEHAESPDVRGRLS
  GIEERYKEVAELTRLRKQALQDTLALYKMFSEADACELWIDEKEQWLNNMQIPEKLEDLEVIQHRFESLEPEMNN
  QASRVAVVNQIARQLMHSGHPSEKEIKAQQDKLNTRWSQFRELVDRKKDALLSALSIQNYHLECNETKSWIREKT
  KVIESTQDLGNDLAGVMALQRKLTGMERDLVAIEAKLSDLQKEAEKLESEHPDQAQAILSRLAEISDVWEEMKTT
  LKNREASLGEASKLQQFLRDLDDFQSWLSRTQTAIASEDMPNTLTEAEKLLTQHENIKNEIDNYEEDYQKMRDMG
  EMVTQGQTDAQYMFLRQRLQALDTGWNELHKMWENRQNLLSQSHAYQQFLRDTKQAEAFLNNQEYVLAHTEMPTT
  LEGAEAAIKKQEDFMTTMDANEEKINAVVETGRRLVSDGNINSDRIQEKVDSIDDRHRKNRETASELLMRLKDNR
  DLQKFLQDCQELSLWINEKMLTAQDMSYDEARNLHSKWLKHQAFMAELASNKEWLDKIEKEGMQLISEKPETEAV
  VKEKLTGLHKMWEVLESTTQTKAQRLFDANKAELFTQSCADLDKWLHGLESQIQSDDYGKDLTSVNILLKKQQML
  ENQMEVRKKEIEELQSQAQALSQEGKSTDEVDSKRLTVQTKFMELLEPLNERKHNLLASKEIHQFNRDVEDEILW
  VGERMPLATSTDHGHNLQTVQLLIKKNQTLQKEIQGHQPRIDDIFERSQNIVTDSSSLSAEAIRQRLADLKQLWG
  LLIEETEKRHRRLEEAHRAQQYYFDAAEAEAWMSEQELYMMSEEKAKDEQSAVSMLKKHQILEQAVEDYAETVHQ
  LSKTSRALVADSHPESERISMRQSKVDKLYAGLKDLAEERRGKLDERHRLFQLNREVDDLEQWIAEREVVAGSHE
  LGQDYEHVTMLQERFREFARDTGNIGQERVDTVNHLADELINSGHSDAATIAEWKDGLNEAWADLLELIDTRTQI
  LAASYELHKFYHDAKEIFGRIQDKHKKLPEELGRDQNTVETLQRMHTTFEHDIQALGTQVRQLQEDAARLQAAYA
  GDKADDIQKRENEVLEAWKSLLDACESRRVRLVDTGDKFRFFSMVRDLMLWMEDVIRQIEAQEKPRDVSSVELLM
  NNHQGIKAEIDARNDSFTTCIELGKSLLARKHYASEEIKEKLLQLTEKRKEMIDKWEDRWEWLRLILEVHQFSRD
  ASVAEAWLLGQEPYLSSREIGQSVDEVEKLIKRHEAFEKSAATWDERFSALERLTTLELLEVRRQQEEEERKRRP
  PSPEPSTKVSEEAESQQQWDTSKGEQVSQNGLPAEQGSPRMAETVDTSEMVNGATEQRTSSKESSPIPSPTSDRK
  AKTALPAQSAATLPARTQETPSAQMEGFLNRKHEWEAHNKKASSRSWHNVYCVINNQEMGFYKDAKTAASGIPYH
  SEVPVSLKEAVCEVALDYKKKKHVFKLRLNDGNEYLFQAKDDEEMNTWIQAISSAISSDKHEVSASTQSTPASSR
  AQTLPTSVVTITSESSPGKREKDKEKDKEKRFSLFGKKK

• Structural information:
  • Protein Domains: (54..15-)
    1 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (173..27-)
    2 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (2197..230-)
    (/note="PH-)
    (/evidence="ECO:00-)
  • Interpro: IPR001589  IPR001715  IPR036872  IPR011993  IPR041681   IPR001605  IPR001849  IPR018159  IPR016343  IPR002017  
  • Prosite: PS00019 PS00020 PS50021 PS50003
  • CDD: cd00014
  • PDB: 1AA2 1BKR 3EDV
  • PDBsum: 1AA2 1BKR 3EDV
  • DIP: 33182
  • STRING: ENSP00000349259
• Other Databases: GeneCards:  SPTBN1  Malacards:  SPTBN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005730	nucleolus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0008091	spectrin	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005543	phospholipid binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0051693	actin filament capping	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0003779	actin binding	TAS	molecular function
GO:0008091	spectrin	TAS	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0060390	regulation of SMAD protein signal transduction	IEA	biological process
GO:0030673	axolemma	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0032437	cuticular plate	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0030863	cortical cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0007182	common-partner SMAD protein phosphorylation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005200	structural constituent of cytoskeleton	IMP	molecular function
GO:0030506	ankyrin binding	NAS	molecular function
GO:0030506	ankyrin binding	IPI	molecular function
GO:0030673	axolemma	ISS	cellular component
GO:0071709	membrane assembly	IMP	biological process
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:0007009	plasma membrane organization	IMP	biological process
GO:0014731	spectrin-associated cytoskeleton	NAS	cellular component
GO:0043001	Golgi to plasma membrane protein transport	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1900042	positive regulation of interleukin-2 secretion	IMP	biological process
GO:1903076	regulation of protein localization to plasma membrane	IGI	biological process
GO:1903078	positive regulation of protein localization to plasma membrane	IMP	biological process
GO:0051020	GTPase binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray