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FLASH GENE

Symbol

SPTAN1

contributors: mct/npt - updated : 05-01-2015

HGNC name	spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)
HGNC id	11273

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE5 epileptic encephalopathy, early infantile, 5
Location	9q34.11      Physical location : 131.314.865 - 131.395.938
Synonym name	alpha-II spectrin
	fodrin alpha chain
Synonym symbol(s)	FOD, NEAS, SPTA2, SPCN, (ALPHA)II-SPECTRIN, FLJ44613

DNA

TYPE	functioning gene
STRUCTURE	81.11 kb     57 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D9S282 - D9S60 - D9S315 - AK1 AK1 /ENG - SPTAN1 - D9S61 - D9S290 - qter
Authors	Shovlin (94)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001130438 57 - 7924 NP_001123910 - 2477 - Lefferts (2009) NM_003127 56 - 7909 NP_003118 - 2472 - - NM_001195532 55 - 7832 NP_001182461 - 2452 - -

EXPRESSION

Type	ubiquitous

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 blood / hematopoietic spleen       highly   thymus       highly Nervous brain       highly

tissue

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

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 actin-binding site
	23 copies of a 106 AAs repeat motif
	a calmodulin binding site
	a pleckstrin (PH) homology domain
	three EF hand calcium binding domain
	two particular spectrin repeats in its central region, alpha9 and alpha10, which host an Src homology 3 domain, a tissue-specific spliced sequence of 20 AAs, a calmodulin-binding site and major cleavage sites for caspases and calpains (Rotter 2005)
	a C terminus domain of association with SPTBN1

HOMOLOGY

interspecies

homolog to murine Spna2

Homologene

FAMILY

spectrin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,cytoplasm,cytoskeleton,microtubule

basic FUNCTION	may be crosslinking actin proteins of the membrane-associated cytoskeleton
	plays a role in the repair of DNA interstrand cross-links and is deficient in cells from patients with Fanconi anemia (FA), in which there is a defect in ability to repair such cross-links (Lefferts 2009)
	involved in DNA repair (Sridharan 2006)
	may play a role in a number of diverse and important processes in the nucleus (Sridharan 2006)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

constituent of intermediate filament associated protein (IFAP,type III)

INTERACTION

DNA

RNA

small molecule

protein	interactiung with FANCG (site of interaction in FANCG was mapped to a motif that binds to SH3 domains and contains a consensus sequence with preference for the SH3 domain of SPTAN1)(Lefferts 2009)
	interactions between SPTAN1, TES and EVL indicate new functions for spectrin in actin dynamics and focal adhesions (Rotter 2005)

cell & other

intermediate filament associated (IFAP,type III)

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE5

Susceptibility

Variant & Polymorphism

Candidate gene	autoantigen in primary immune Sjögren syndrome
Marker
Therapy target

ANIMAL & CELL MODELS