QuickView for SPTA (gene)

Gene Symbol:

SPTA1 Homo sapiens

Full name:

spectrin alpha, erythrocytic 1

Synonyms:

EL2, HPP, HS3, SPH3, SPTA, spectrin alpha chain, erythrocytic 1, alpha-I spectrin, elliptocytosis 2, erythroid alpha-spectrin, spectrin alpha chain, erythrocyte

Genomic Location:

Chr 1: 156847120-156923130

Description:

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....

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGANTCA_AP1_C ,  TATAAA_TATA_01 ,  NFE2_01 ,  AP1_Q6_01 ,  AP1FJ_Q2 ,  BACH2_01 ,  NRF2_Q4 ,  AP1_Q4 ,  AP1_Q2 ,  TCF11MAFG_01 ,  TGASTMAGC_NFE2_01

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Cytogenetic Map:

1q23.1

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