ENSG00000115306


Homo sapiens

Features
Gene ID: ENSG00000115306
  
Biological name :SPTBN1
  
Synonyms : Q01082 / spectrin beta, non-erythrocytic 1 / SPTBN1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: p16.2
Gene start: 54456285
Gene end: 54671445
  
Corresponding Affymetrix probe sets: 200671_s_at (Human Genome U133 Plus 2.0 Array)   200672_x_at (Human Genome U133 Plus 2.0 Array)   207283_at (Human Genome U133 Plus 2.0 Array)   212071_s_at (Human Genome U133 Plus 2.0 Array)   213914_s_at (Human Genome U133 Plus 2.0 Array)   215918_s_at (Human Genome U133 Plus 2.0 Array)   226342_at (Human Genome U133 Plus 2.0 Array)   226765_at (Human Genome U133 Plus 2.0 Array)   228246_s_at (Human Genome U133 Plus 2.0 Array)   242220_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000374630
Ensembl peptide - ENSP00000479037
Ensembl peptide - ENSP00000334156
Ensembl peptide - ENSP00000349259
NCBI entrez gene - 6711     See in Manteia.
OMIM - 182790
RefSeq - XM_017004781
RefSeq - NM_178313
RefSeq - XM_005264517
RefSeq - XM_005264518
RefSeq - XM_006712087
RefSeq - XM_017004779
RefSeq - XM_017004780
RefSeq - NM_003128
RefSeq Peptide - NP_003119
RefSeq Peptide - NP_842565
swissprot - B2ZZ89
swissprot - F8W6C1
swissprot - Q01082
swissprot - A0A087WUZ3
Ensembl - ENSG00000115306
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 si:zfos-1837d3.1ENSDARG00000105428Danio rerio
 sptbn1ENSDARG00000102883Danio rerio
 SPTBN1ENSGALG00000029512Gallus gallus
 Q62261ENSMUSG00000020315Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O15020 / SPTBN2 / spectrin beta, non-erythrocytic 2ENSG0000017389863
SPTB / P11277 / spectrin beta, erythrocyticENSG0000007018259
Q9H254 / SPTBN4 / spectrin beta, non-erythrocytic 4ENSG0000016046051
Q9NRC6 / SPTBN5 / spectrin beta, non-erythrocytic 5ENSG0000013787727
Q13813 / SPTAN1 / spectrin alpha, non-erythrocytic 1ENSG0000019769423
SPTA1 / P02549 / spectrin alpha, erythrocytic 1ENSG0000016355420
ACTN1 / P12814 / actinin alpha 1ENSG0000007211012
ACTN4 / O43707 / actinin alpha 4ENSG0000013040212
ACTN3 / Q08043 / actinin alpha 3 (gene/pseudogene)ENSG0000024874611
ACTN2 / P35609 / actinin alpha 2ENSG0000007752211


Protein motifs (from Interpro)
Interpro ID Name
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001605  Pleckstrin homology domain, spectrin-type
 IPR001715  Calponin homology domain
 IPR001849  Pleckstrin homology domain
 IPR002017  Spectrin repeat
 IPR011993  PH-like domain superfamily
 IPR016343  Spectrin, beta subunit
 IPR018159  Spectrin/alpha-actinin
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0000281 mitotic cytokinesis IMP
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0007009 plasma membrane organization IMP
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0007182 common-partner SMAD protein phosphorylation IEA
 biological_processGO:0007411 axon guidance TAS
 biological_processGO:0043001 Golgi to plasma membrane protein transport IMP
 biological_processGO:0051693 actin filament capping IEA
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0071709 membrane assembly IMP
 biological_processGO:0072659 protein localization to plasma membrane IMP
 biological_processGO:1900042 positive regulation of interleukin-2 secretion IMP
 biological_processGO:1903076 regulation of protein localization to plasma membrane IGI
 biological_processGO:1903078 positive regulation of protein localization to plasma membrane IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0008091 spectrin IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0014731 spectrin-associated cytoskeleton NAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030673 axolemma ISS
 cellular_componentGO:0030863 cortical cytoskeleton IEA
 cellular_componentGO:0031430 M band IEA
 cellular_componentGO:0032437 cuticular plate IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005200 structural constituent of cytoskeleton IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0005543 phospholipid binding IEA
 molecular_functionGO:0030506 ankyrin binding NAS
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0051020 GTPase binding IPI


Pathways (from Reactome)
Pathway description
Nephrin family interactions
NCAM signaling for neurite out-growth
Interaction between L1 and Ankyrins
RAF/MAP kinase cascade
COPI-mediated anterograde transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000161270 NPHS1 / O60500 / NPHS1, nephrin  / complex / reaction
 ENSG00000183853 Q96J84 / KIRREL1 / kirre like nephrin family adhesion molecule 1  / reaction / complex






 

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