Entity Details

Primary name SPTB1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP11277
EntryNameSPTB1_HUMAN
FullNameSpectrin beta chain, erythrocytic
TaxID9606
Evidenceevidence at protein level
Length2137
SequenceStatuscomplete
DateCreated1989-07-01
DateModified2021-06-02

Ontological Relatives

GenesSPTB

GO terms

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GOName
GO:0000165 MAPK cascade
GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005829 cytosol
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0007411 axon guidance
GO:0008091 spectrin
GO:0009986 cell surface
GO:0014731 spectrin-associated cytoskeleton
GO:0015629 actin cytoskeleton
GO:0030506 ankyrin binding
GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane
GO:0032991 protein-containing complex
GO:0051015 actin filament binding
GO:0051693 actin filament capping

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR001589 Actinin-type actin-binding domain, conserved siteSiteConserved site
IPR001715 Calponin homology domainDomainDomain
IPR002017 Spectrin repeatRepeatRepeat
IPR016343 Spectrin, beta subunitFamilyFamily
IPR018159 Spectrin/alpha-actininRepeatRepeat
IPR036872 CH domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
616649 OMIMSpherocytosis 2 (SPH2)An autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity. The disease is caused by variants affecting the gene represented in this entry.
617948 OMIMElliptocytosis 3 (EL3)A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous hematologic disorder characterized by variable hemolytic anemia and elliptical or oval red cell shape. Inheritance can be autosomal dominant or autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.