Sptbn5 spectrin beta, non-erythrocytic 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sptbn5provided by MGI
Official Full Name: spectrin beta, non-erythrocytic 5provided by MGI
Primary source: MGI:MGI:2685200
See related: Ensembl:ENSMUSG00000074899 AllianceGenome:MGI:2685200
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm354; Spnb5; EG640524
Summary: Enables actin filament binding activity; opsin binding activity; and spectrin binding activity. Predicted to be involved in actin cytoskeleton organization. Predicted to act upstream of or within Golgi organization and lysosomal transport. Located in apical cortex and cortical cytoskeleton. Part of microtubule associated complex. Orthologous to human SPTBN5 (spectrin beta, non-erythrocytic 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 2 E5; 2 60.11 cM

Exon count:: 68

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (119871974..119919394, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (120041493..120088913, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Outer hair cell function is normal in betaV spectrin knockout mice.
Title: Outer hair cell function is normal in βV spectrin knockout mice.
Adaptive mutations of spectrin-betaV occurred in the mammalian lineage and were accompanied with substantial changes in the protein distribution within inner ear hair cells.
Title: Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians.
the cortical network involved in the sound-induced electromotility of OHCs contains alphaII-betaV spectrin, and not the conventional alphaII-betaII spectrin.
Title: alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables dynactin binding	ISO Inferred from Sequence Orthology more info	PubMed
enables dynein intermediate chain binding	ISO Inferred from Sequence Orthology more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info	PubMed
enables kinesin binding	ISO Inferred from Sequence Orthology more info	PubMed
enables myosin tail binding	ISO Inferred from Sequence Orthology more info	PubMed
enables opsin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables spectrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables spectrin binding	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Golgi organization	ISO Inferred from Sequence Orthology more info	PubMed
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lysosomal transport	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
located_in apical cortex	IDA Inferred from Direct Assay more info	PubMed
located_in axoneme	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in cell junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cortical cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info	PubMed
part_of microtubule associated complex	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor connecting cilium	ISO Inferred from Sequence Orthology more info	PubMed
located_in photoreceptor disc membrane	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: spectrin beta chain, non-erythrocytic 5

Names: spectrin beta 4; spectrin beta 5; spectrin beta non-erythrocytic 5 (SPTBN5) orthologue

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001370938.1 → NP_001357867.1 spectrin beta chain, non-erythrocytic 5

Status: VALIDATED

Source sequence(s)

AL833774

UniProtKB/TrEMBL

A0A571BF02

Related

ENSMUSP00000158705.2, ENSMUST00000156159.4

Conserved Domains (4) summary

smart00150
Location:1141 → 1236

SPEC; Spectrin repeats

COG5069
Location:21 → 365

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00176
Location:2918 → 3129

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl02488
Location:894 → 1029

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

119871974..119919394 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036162443.1 → XP_036018336.1 spectrin beta chain, non-erythrocytic 5 isoform X1

UniProtKB/TrEMBL

A0A571BF02

Conserved Domains (5) summary

smart00150
Location:1223 → 1318

SPEC; Spectrin repeats

cd00176
Location:3011 → 3222

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd21247
Location:83 → 207

CH_SPTBN5_rpt1; first calponin homology (CH) domain found in spectrin beta chain, non-erythrocytic 5 (SPTBN5) and similar proteins

cl00030
Location:222 → 330

CH_SF; calponin homology (CH) domain superfamily

cl02488
Location:976 → 1111

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...