Spta1 spectrin alpha, erythrocytic 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Spta1provided by MGI
Official Full Name: spectrin alpha, erythrocytic 1provided by MGI
Primary source: MGI:MGI:98385
See related: Ensembl:ENSMUSG00000026532 AllianceGenome:MGI:98385
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: ha; ihj; sph; nmf4; Spna1; Spna-1
Summary: Predicted to enable actin filament binding activity. Acts upstream of or within several processes, including lymphocyte homeostasis; porphyrin-containing compound biosynthetic process; and positive regulation of T cell proliferation. Located in cuticular plate; membrane; and spectrin-associated cytoskeleton. Part of spectrin. Is expressed in liver; liver left lobe; and liver right lobe. Used to study hereditary spherocytosis type 1; hereditary spherocytosis type 3; and sickle cell anemia. Human ortholog(s) of this gene implicated in hereditary spherocytosis and hereditary spherocytosis type 3. Orthologous to human SPTA1 (spectrin alpha, erythrocytic 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in liver E14 (RPKM 25.0), liver E14.5 (RPKM 21.2) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H3; 1 80.97 cM

Exon count:: 53

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (174000305..174076015)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (174172739..174248449)

Chromosome 1 - NC_000067.7 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?

These findings reveal spectrin (alpha/beta) / ankyrin B cytoskeletal and signaling proteins as key regulators of T-type calcium channels expressed in the nervous system.
Title: T-type calcium channels functionally interact with spectrin (α/β) and ankyrin B.
This study demonstrates that the FGF19-SHP-LSD1 axis maintains homeostasis by suppressing unnecessary autophagic breakdown of cellular components, including lipids, under nutrient-rich postprandial conditions.
Title: A postprandial FGF19-SHP-LSD1 regulatory axis mediates epigenetic repression of hepatic autophagy.
a new function for spectrins in the stability of invadosomes and the coupling between actin regulation and ECM degradation
Title: αII-spectrin regulates invadosome stability and extracellular matrix degradation.
Calcium plays a role in regulating the expression and function of beta-adducin to sustain normal organization of the spectrin-based cytoskeleton and the differentiation properties in keratinocytes through the calmodulin/EGFR/cadherin signaling pathway.
Title: β-Adducin siRNA disruption of the spectrin-based cytoskeleton in differentiating keratinocytes prevented by calcium acting through calmodulin/epidermal growth factor receptor/cadherin pathway.
organization of a spectrin-like cytoskeleton is associated with keratinocyte differentiation, and cytoskeleton disruption is mediated by either PKCdelta(Thr505) phosphorylation associated with phosphorylated adducin or due to reduction of endogenous adducin
Title: Disruption of spectrin-like cytoskeleton in differentiating keratinocytes by PKCδ activation is associated with phosphorylated adducin.
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.
Analysis of 3 new alleles reveals previously unknown consequences of red blood cell (RBC) spectrin deficiency, resulting in markedly reduced RBC membrane spectrin content, decreased band 3, and absent beta-adducin.
Title: Analysis of novel sph (spherocytosis) alleles in mice reveals allele-specific loss of band 3 and adducin in alpha-spectrin-deficient red cells.
Murine recessive hereditary spherocytosis, sph/sph, is caused by a mutation in the erythroid alpha-spectrin gene.
Title: Murine recessive hereditary spherocytosis, sph/sph, is caused by a mutation in the erythroid alpha-spectrin gene.

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Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3) 1 citation
Spontaneous (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI451697 (e-PCR)
- UniSTS:178523

Spna1 (e-PCR), detects polymorphism
- UniSTS:144501

AF093576 (e-PCR)
- UniSTS:158894

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament capping	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lymphocyte homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within positive regulation of T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of protein binding	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in axon	ISO Inferred from Sequence Orthology more info
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 cuticular plate	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic side of plasma membrane	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
part_of spectrin	IMP Inferred from Mutant Phenotype more info	PubMed
part_of spectrin	TAS Traceable Author Statement more info	PubMed
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 alpha chain, erythrocytic 1

Names: alpha-spectrin 1, erythroid; erythroid alpha-spectrin; hemolytic anemia; neuroscience mutagenesis facility, 4; spectrin alpha 1; spectrin alpha chain, erythrocyte; spherocytosis

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_011465.4 → NP_035595.2 spectrin alpha chain, erythrocytic 1

See identical proteins and their annotated locations for NP_035595.2

Status: VALIDATED

Source sequence(s)

AF093576, AK143823, BY005246

Consensus CDS

CCDS35795.1

UniProtKB/Swiss-Prot

B2RWX6, P08032, P97502

Related

ENSMUSP00000027817.8, ENSMUST00000027817.8

Conserved Domains (5) summary

cd00176
Location:1606 → 1817

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; ...

pfam00435
Location:685 → 783

Spectrin; Spectrin repeat

pfam08726
Location:2346 → 2414

EFhand_Ca_insen; Ca2+ insensitive EF hand

cl08302
Location:2271 → 2339

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl17036
Location:980 → 1031

SH3; Src Homology 3 domain superfamily