Basic Information

Symbol
SPTAN1
RNA class
mRNA
Alias
Spectrin Alpha, Non-Erythrocytic 1 Spectrin Alpha Chain, Non-Erythrocytic 1 Spectrin, Non-Erythroid Alpha Subunit Fodrin Alpha Chain Alpha-II Spectrin Alpha-Fodrin SPTA2 NEAS Epididymis Secretory Sperm Binding Protein Spectrin, Non-Erythroid Alpha Chain HMND11 DEVEP EIEE5 HMN11 SPG91 DEE5
Location (GRCh38)
9:128552558-128633663
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001130438.3
Sequence length
7875.0 nt
GC content
0.5342

Transcripts

ID Sequence Length GC content
NM_003127.4 NCBI
GCCACUACCCGCUGCGGAGUGAACGGUGUGGAGCGGAGGCCGCGGAGGC… 7860 nt 0.5342
Showing 11 to 11 of 11 entries
Summary

Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]

Forensic Context

No relevant information is available at the moment.