SPTBN1

Protein identityUniProt · HPA

UniProt accession

Q01082

Gene

SPTBN1

Ensembl

ENSG00000115306

Chromosome

2

Canonical length

2364 aa

Protein class

Disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters

Subcellular location

Cytosol

OverviewNCBI Gene

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 composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

2364 residues, UniProt reviewed canonical sequence.

>Q01082|SPTBN1
     1  MTTTVATDYD NIEIQQQYSD VNNRWDVDDW DNENSSARLF ERSRIKALAD EREAVQKKTF
    61  TKWVNSHLAR VSCRITDLYT DLRDGRMLIK LLEVLSGERL PKPTKGRMRI HCLENVDKAL
   121  QFLKEQRVHL ENMGSHDIVD GNHRLTLGLI WTIILRFQIQ DISVETEDNK EKKSAKDALL
   181  LWCQMKTAGY PNVNIHNFTT SWRDGMAFNA LIHKHRPDLI DFDKLKKSNA HYNLQNAFNL
   241  AEQHLGLTKL LDPEDISVDH PDEKSIITYV VTYYHYFSKM KALAVEGKRI GKVLDNAIET
   301  EKMIEKYESL ASDLLEWIEQ TIIILNNRKF ANSLVGVQQQ LQAFNTYRTV EKPPKFTEKG
   361  NLEVLLFTIQ SKMRANNQKV YMPREGKLIS DINKAWERLE KAEHERELAL RNELIRQEKL
   421  EQLARRFDRK AAMRETWLSE NQRLVSQDNF GFDLPAVEAA TKKHEAIETD IAAYEERVQA
   481  VVAVARELEA ENYHDIKRIT ARKDNVIRLW EYLLELLRAR RQRLEMNLGL QKIFQEMLYI
   541  MDWMDEMKVL VLSQDYGKHL LGVEDLLQKH TLVEADIGIQ AERVRGVNAS AQKFATDGEG
   601  YKPCDPQVIR DRVAHMEFCY QELCQLAAER RARLEESRRL WKFFWEMAEE EGWIREKEKI
   661  LSSDDYGKDL TSVMRLLSKH RAFEDEMSGR SGHFEQAIKE GEDMIAEEHF GSEKIRERII
   721  YIREQWANLE QLSAIRKKRL EEASLLHQFQ ADADDIDAWM LDILKIVSSS DVGHDEYSTQ
   781  SLVKKHKDVA EEIANYRPTL DTLHEQASAL PQEHAESPDV RGRLSGIEER YKEVAELTRL
   841  RKQALQDTLA LYKMFSEADA CELWIDEKEQ WLNNMQIPEK LEDLEVIQHR FESLEPEMNN
   901  QASRVAVVNQ IARQLMHSGH PSEKEIKAQQ DKLNTRWSQF RELVDRKKDA LLSALSIQNY
   961  HLECNETKSW IREKTKVIES TQDLGNDLAG VMALQRKLTG MERDLVAIEA KLSDLQKEAE
  1021  KLESEHPDQA QAILSRLAEI SDVWEEMKTT LKNREASLGE ASKLQQFLRD LDDFQSWLSR
  1081  TQTAIASEDM PNTLTEAEKL LTQHENIKNE IDNYEEDYQK MRDMGEMVTQ GQTDAQYMFL
  1141  RQRLQALDTG WNELHKMWEN RQNLLSQSHA YQQFLRDTKQ AEAFLNNQEY VLAHTEMPTT
  1201  LEGAEAAIKK QEDFMTTMDA NEEKINAVVE TGRRLVSDGN INSDRIQEKV DSIDDRHRKN
  1261  RETASELLMR LKDNRDLQKF LQDCQELSLW INEKMLTAQD MSYDEARNLH SKWLKHQAFM
  1321  AELASNKEWL DKIEKEGMQL ISEKPETEAV VKEKLTGLHK MWEVLESTTQ TKAQRLFDAN
  1381  KAELFTQSCA DLDKWLHGLE SQIQSDDYGK DLTSVNILLK KQQMLENQME VRKKEIEELQ
  1441  SQAQALSQEG KSTDEVDSKR LTVQTKFMEL LEPLNERKHN LLASKEIHQF NRDVEDEILW
  1501  VGERMPLATS TDHGHNLQTV QLLIKKNQTL QKEIQGHQPR IDDIFERSQN IVTDSSSLSA
  1561  EAIRQRLADL KQLWGLLIEE TEKRHRRLEE AHRAQQYYFD AAEAEAWMSE QELYMMSEEK
  1621  AKDEQSAVSM LKKHQILEQA VEDYAETVHQ LSKTSRALVA DSHPESERIS MRQSKVDKLY
  1681  AGLKDLAEER RGKLDERHRL FQLNREVDDL EQWIAEREVV AGSHELGQDY EHVTMLQERF
  1741  REFARDTGNI GQERVDTVNH LADELINSGH SDAATIAEWK DGLNEAWADL LELIDTRTQI
  1801  LAASYELHKF YHDAKEIFGR IQDKHKKLPE ELGRDQNTVE TLQRMHTTFE HDIQALGTQV
  1861  RQLQEDAARL QAAYAGDKAD DIQKRENEVL EAWKSLLDAC ESRRVRLVDT GDKFRFFSMV
  1921  RDLMLWMEDV IRQIEAQEKP RDVSSVELLM NNHQGIKAEI DARNDSFTTC IELGKSLLAR
  1981  KHYASEEIKE KLLQLTEKRK EMIDKWEDRW EWLRLILEVH QFSRDASVAE AWLLGQEPYL
  2041  SSREIGQSVD EVEKLIKRHE AFEKSAATWD ERFSALERLT TLELLEVRRQ QEEEERKRRP
  2101  PSPEPSTKVS EEAESQQQWD TSKGEQVSQN GLPAEQGSPR MAETVDTSEM VNGATEQRTS
  2161  SKESSPIPSP TSDRKAKTAL PAQSAATLPA RTQETPSAQM EGFLNRKHEW EAHNKKASSR
  2221  SWHNVYCVIN NQEMGFYKDA KTAASGIPYH SEVPVSLKEA VCEVALDYKK KKHVFKLRLN
  2281  DGNEYLFQAK DDEEMNTWIQ AISSAISSDK HEVSASTQST PASSRAQTLP TSVVTITSES
  2341  SPGKREKDKE KDKEKRFSLF GKKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SPTBN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

176 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SPTBN1.

Disease | AllUniProt

Conditions SPTBN1 is implicated in, by any mechanism.

• Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) MIM:619475

Disease | GeneticClinVar

65 pathogenic / likely-pathogenic of 721 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Developmental delay, impaired speech, and behavioral abnormalities
• Inborn genetic diseases
• Neurodevelopmental disorder
• SPTBN1-related disorder
• Pervasive developmental disorder

ReferencesPubMed · IEDB

Publications for SPTBN1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.09

gnomAD pLI

1

gnomAD missense Z

4.54

DepMap mean gene effect

0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• actin cytoskeleton organization
• actin filament capping
• central nervous system development
• central nervous system formation
• Golgi to plasma membrane protein transport
• membrane assembly
• mitotic cytokinesis
• plasma membrane organization
• positive regulation of interleukin-2 production
• positive regulation of protein localization to plasma membrane
• protein localization to plasma membrane
• regulation of protein localization to plasma membrane
• regulation of SMAD protein signal transduction

Molecular functions

• actin binding
• actin filament binding
• ankyrin binding
• cadherin binding
• calmodulin binding
• GTPase binding
• phospholipid binding
• RNA binding
• structural constituent of cytoskeleton

Cellular components

• axolemma
• cell junction
• cell projection
• cortical actin cytoskeleton
• cuticular plate
• cytoplasm
• cytosol
• extracellular exosome
• glutamatergic synapse
• M band
• nucleolus
• plasma membrane
• postsynaptic density
• spectrin
• spectrin-associated cytoskeleton

Protein domainsUniProt · Pfam · InterPro

• Actinin-type actin-binding domain, conserved site
• Pleckstrin homology domain, spectrin-type
• Calponin homology domain
• Pleckstrin homology domain
• Spectrin repeat
• PH-like domain superfamily
• Spectrin, beta subunit
• Spectrin/alpha-actinin
• CH domain superfamily
• Pleckstrin homology domain 9
• Calponin homology (CH) domain
• Spectrin repeat
• Pleckstrin homology domain

KeywordsUniProt

• Acetylation
• Actin capping
• Actin-binding
• Calmodulin-binding
• Cell membrane
• Cytoplasm
• Cytoskeleton
• Glycoprotein
• Intellectual disability
• Membrane
• Phosphoprotein
• Repeat

InteractionsUniProt · HPA

Protein binding partners of SPTBN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ANK2
• CAMSAP1
• CPNE4
• CDC5L
• DISC1
• SPTAN1