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FLASH GENE

Symbol

SPTA1

contributors: mct - updated : 29-04-2015

HGNC name	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
HGNC id	11272

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EL2 hereditary elliptocytosis, type 2 HPP hereditary, pyropoikilocytosis SPH3 hereditary spherocytosis, type III
Location	1q23.1      Physical location : 158.580.495 - 158.656.506
Synonym name	erythroid alpha-spectrin
	alpha-I spectrin
	elliptocytosis 2
Synonym symbol(s)	SPTA, EL2

DNA

TYPE	functioning gene
STRUCTURE	76.22 kb     52 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site   transcription factor
text structure	binding sites for GATA1 and NFE2 related proteins

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - NRAS - D1S67 - APOA2 APOA2 - APCS - FY ,SPTA1 ,EL2 ,MUC1 - D1S61 - D1S66 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003126 52 - 8017 NP_003117 28 2419 - -

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erthrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal self association site, and functional roles of AAs 21-43 and 55-59 in the N-terminal region in forming tetramers were determined by the introduction of mutations at each of these positions
	22 copies of a 106 AAs repeat motif (spectrin repeats)
	an atypical 10 repeat containing a SH3 domain
	two C terminal EF-hand calcium-binding domains, calmodulin-like, with calcium-dependent and calcium-independent EF hands, that likely may bind to the linker that connects the actin-binding domain (ABD) to the first spectrin repeat

mono polymer

heteromer , dimer , polymer

HOMOLOGY

interspecies	ortholog to murine Spna1
	homolog to C.elegans C50C3.2 and K10B3.10

Homologene

FAMILY

spectrin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,intermed filament

basic FUNCTION	major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane
	associating with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

constituent of intermediate filament associated protein (IFAP, type III), dimerizing and heteropolymerizing, components of the core structure of the membrane skeleton

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein	binding to actin
	TAF3 is required for transcription of the SPTA1 gene, encoding alpha spectrin, one of the proteins that link the plasma membrane to the actin cytoskeleton

cell & other

binding to intermediate filament (IFAP,type III)

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EL2 , HPP , SPH3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS