Sptb spectrin beta, erythrocytic [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sptbprovided by MGI
Official Full Name: spectrin beta, erythrocyticprovided by MGI
Primary source: MGI:MGI:98387
See related: Ensembl:ENSMUSG00000021061 AllianceGenome:MGI:98387
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: ja; Spnb1; Gm1301; Spnb-1; jaundiced; mKIAA4219; D330027P03Rik
Summary: Enables actin filament binding activity. Acts upstream of or within hemopoiesis; plasma membrane organization; and porphyrin-containing compound biosynthetic process. Located in cortical cytoskeleton; plasma membrane; and spectrin-associated cytoskeleton. Is expressed in brain and liver. Human ortholog(s) of this gene implicated in hereditary spherocytosis and hereditary spherocytosis type 2. Orthologous to human SPTB (spectrin beta, erythrocytic). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 27.2), liver E14.5 (RPKM 17.4) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C3; 12 33.73 cM

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (76627262..76757321, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (76580488..76710547, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Results of this study provide evidence for a role for spectrin in different steps of megakaryocyte development through its participation in the formation of invaginated membranes and in the maintenance of proplatelet structure.
Title: The spectrin-based membrane skeleton stabilizes mouse megakaryocyte membrane systems and is essential for proplatelet and platelet formation.

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Variation

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Alleles

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

Spontaneous (2)
Targeted (2) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236875

NoName (e-PCR)
- UniSTS:236878

PMC162203P1 (e-PCR)
- UniSTS:271457

AI842465 (e-PCR)
- UniSTS:180409

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
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 actin filament binding	ISO Inferred from Sequence Orthology more info
enables ankyrin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin filament capping	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in modification of postsynaptic actin cytoskeleton	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within plasma membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within porphyrin-containing compound biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
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
located_in cell surface	ISO Inferred from Sequence Orthology 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	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of spectrin	IEA Inferred from Electronic Annotation more info
located_in spectrin-associated cytoskeleton	IMP Inferred from Mutant Phenotype more info	PubMed
located_in spectrin-associated cytoskeleton	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: spectrin beta chain, erythrocytic

Names: beta-I spectrin; beta-spectrin 1; brain erythroid spectrin (235E); spectrin R; spectrin beta 1; spectrin beta chain, erythrocyte

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_013675.3 → NP_038703.3 spectrin beta chain, erythrocytic

See identical proteins and their annotated locations for NP_038703.3

Status: VALIDATED

Source sequence(s)

AK147299, CD804076

Consensus CDS

CCDS36477.1

UniProtKB/TrEMBL

B2RX08, Q3UGX2, Q3UGY4

Related

ENSMUSP00000021458.7, ENSMUST00000021458.13

Conserved Domains (7) summary

smart00150
Location:1385 → 1475

SPEC; Spectrin repeats

smart00033
Location:177 → 273

CH; Calponin homology domain

cd00014
Location:55 → 158

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00176
Location:530 → 742

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; ...

cd10571
Location:2182 → 2287

PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain

pfam00169
Location:2180 → 2288

PH; PH domain

pfam00435
Location:422 → 526

Spectrin; Spectrin repeat