Homo sapiens Gene: SPTA1
Summary
InnateDB Gene IDBG-103806.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SPTA1
Gene Name spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
Synonyms EL2; HPP; HS3; SPH3; SPTA;
Species Homo sapiens
Ensembl Gene ENSG00000163554
Encoded Proteins
spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
spectrin, alpha, erythrocytic 1
spectrin, alpha, erythrocytic 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:158610706-158686698
Strand Reverse strand
Band q23.1
Transcripts
ENST00000368147 ENSP00000357129
ENST00000485680
ENST00000481212
ENST00000498708
ENST00000492934
ENST00000484520
ENST00000461624
ENST00000465741
ENST00000467387 ENSP00000476485
ENST00000614909 ENSP00000482595
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 30 [view]
Protein-Protein 30 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005200 structural constituent of cytoskeleton
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0046982 protein heterodimerization activity
GO:0051015 actin filament binding
Biological Process
GO:0002260 lymphocyte homeostasis
GO:0006779 porphyrin-containing compound biosynthetic process
GO:0007009 plasma membrane organization
GO:0007015 actin filament organization
GO:0007411 axon guidance
GO:0008360 regulation of cell shape
GO:0030036 actin cytoskeleton organization
GO:0030097 hemopoiesis
GO:0032092 positive regulation of protein binding
GO:0042102 positive regulation of T cell proliferation
GO:0051693 actin filament capping
Cellular Component
GO:0005829 cytosol
GO:0008091 spectrin
GO:0014731 spectrin-associated cytoskeleton
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0030863 cortical cytoskeleton
GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane
GO:0032437 cuticular plate
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Developmental Biology pathway
Interaction between L1 and Ankyrins pathway
NCAM signaling for neurite out-growth pathway
Axon guidance pathway
L1CAM interactions pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.119825
RefSeq NM_003126
HUGO
OMIM
CCDS CCDS41423
HPRD 01685
IMGT
EMBL
GenPept
RNA Seq Atlas