Entity Details

Primary name SPTN4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H254
EntryNameSPTN4_HUMAN
FullNameSpectrin beta chain, non-erythrocytic 4
TaxID9606
Evidenceevidence at protein level
Length2564
SequenceStatuscomplete
DateCreated2001-11-16
DateModified2021-06-02

Ontological Relatives

GenesSPTBN4

GO terms

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GOName
GO:0000165 MAPK cascade
GO:0002028 regulation of sodium ion transport
GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005543 phospholipid binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005884 actin filament
GO:0005886 plasma membrane
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0007409 axonogenesis
GO:0007411 axon guidance
GO:0007605 sensory perception of sound
GO:0007628 adult walking behavior
GO:0008091 spectrin
GO:0009566 fertilization
GO:0010459 negative regulation of heart rate
GO:0014704 intercalated disc
GO:0016020 membrane
GO:0016192 vesicle-mediated transport
GO:0016363 nuclear matrix
GO:0016605 PML body
GO:0019226 transmission of nerve impulse
GO:0019902 phosphatase binding
GO:0021952 central nervous system projection neuron axonogenesis
GO:0030506 ankyrin binding
GO:0030507 spectrin binding
GO:0033135 regulation of peptidyl-serine phosphorylation
GO:0033268 node of Ranvier
GO:0033270 paranode region of axon
GO:0040018 positive regulation of multicellular organism growth
GO:0043025 neuronal cell body
GO:0043194 axon initial segment
GO:0043203 axon hillock
GO:0045162 clustering of voltage-gated sodium channels
GO:0051693 actin filament capping
GO:0061337 cardiac conduction
GO:0070062 extracellular exosome
GO:0070852 cell body fiber
GO:0072659 protein localization to plasma membrane
GO:0106006 cytoskeletal protein-membrane anchor activity

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR001589 Actinin-type actin-binding domain, conserved siteSiteConserved site
IPR001605 Pleckstrin homology domain, spectrin-typeDomainDomain
IPR001715 Calponin homology domainDomainDomain
IPR001849 Pleckstrin homology domainDomainDomain
IPR002017 Spectrin repeatRepeatRepeat
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR016343 Spectrin, beta subunitFamilyFamily
IPR018159 Spectrin/alpha-actininRepeatRepeat
IPR036872 CH domain superfamilyFamilyHomologous superfamily
IPR041681 Pleckstrin homology domain 9DomainDomain

Diseases

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Disease IDSourceNameDescription
617519 OMIMNeurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND)An autosomal recessive disorder characterized by congenital myopathy with hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem-evoked potentials, and a combined axonal and demyelinating motor neuropathy. The disease is caused by variants affecting the gene represented in this entry.