Basic Information

Symbol
SPTA1
RNA class
mRNA
Alias
Spectrin Alpha, Erythrocytic 1 EL2 Spectrin Alpha Chain, Erythrocytic 1 Erythroid Alpha-Spectrin Elliptocytosis 2 SPTA Spectrin, Alpha, Erythrocytic 1 (Elliptocytosis 2) Spectrin Alpha Chain, Erythrocyte Alpha-I Spectrin SPH3 HPP HS3
Location (GRCh38)
1:158610704-158686715
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Tissue/body fluid identification
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_003126.4
Sequence length
8018.0 nt
GC content
0.4733

Transcripts

ID Sequence Length GC content
NM_003126.4 NCBI
AUGUCUUCUAAAGAUAAUGUCGAUUGUGUAUGGCUGAUGGGAUUCUAGG… 8018 nt 0.4733
Summary

This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]

Forensic Context

A review of forensic proteomics literature identifies the SPTA1 as a protein marker used in combination with other markers for accurate peripheral blood identification in human samples [Shirin Alex et al. DOI:10.1016/j.scijus.2025.101320]. A review of forensic proteomics literature identifies the SPTA1 as a protein marker used in combination with other markers for accurate peripheral blood identification in human samples [Alex et al. DOI:10.1016/j.scijus.2025.101320].