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FLASH GENE

Symbol

SLC4A1

contributors: mct/npt - updated : 31-08-2017

HGNC name	solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
HGNC id	11027

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

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         Cardiovascular heart         Digestive liver         Urinary kidney tubule collecting duct   highly Homo sapiens   kidney nephron       Homo sapiens

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erthrocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

spleen

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	lacks the N-terminal 65 AAs of the erythroid form (AE1, band 3), which are essential for binding of cytoskeletal and cytosolic proteins
	13 transmembrane (13TM) segments
	an N-terminal cytoplasmic domain that interacts with the cytoskeleton, and intracellular N terminal including binding sites for hemoglobin, EPB41 and other proteins
	an ankyrin-binding site located near the deoxyHb (deoxygenated haemoglobin)-binding site
	a C cytoplasmic terminal forming the exchange channel, transmembrane domain that transports anions independently, and implicated in the anion translocation process

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY	solute carrier family 4, chloride-bicarbonate
	anion exchanger family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
text	expressed in the cilia and may support Cl(-) accumulation
	integral membrane protein linked to the spectrin/actin cytoskeleton

basic FUNCTION	anion exchange across the basolateral surface
	mediating electroneutral chloride/bicarbonate exchange
	plays an important role in transcellular bicarbonate absorption
	major anion transport protein of erythrocytes, that forms the core of a multiprotein complex in the erythrocyte membrane
	ANK1/SLC4A1 complex plays critical roles in bridging spectrin/actin cytoskeleton to the cell surface lipid membrane and serving as a docking site for multiple membrane/cytoskeleton proteins

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	ANK1/SLC4A1 complex connects the spectrin-based skeleton to the plasma membrane and helps maintain the vertical and horizontal integrities of the mature erythrocyte
	SLC4A1 and GYPA form a complex in the ER of human K562 cells, but that both proteins can also traffic to the cell surface independently of each other

INTERACTION

DNA

RNA

small molecule

protein	anchor protein and target for PTPN11 in erythrocytes
	forming the scaffold for a protein assembly that could transduce signals from the cell exterior and modulate the transport and mechanical properties of the erythrocyte
	GYPA is a sialoglycoprotein that associates with SLC4A1 in erythrocytes forming the Wrb (Wright b) blood group antigen
	interacts with nephrin and ILK to maintain the structure and function of the glomerular basement membrane
	interacting with AP1M1 (AP1M1 is involved in the SLC4A1 trafficking of kidney alpha-intercalated cells)
	interacts with KIF3B in the kidney tissue a dileucine motif at the C-terminal SLC4A1 contributes to its interaction with KIF3B)
	preferentially binds deoxygenated haemoglobin at its N-terminus, and has been postulated to participate in the mechanism by which oxygenation controls cellular processes
	DPP4, AGTR2, SLC4A1, KREMEN1, ASGR1, ANP, TMEM30A, CLEC4G, and LDLRAD3, along with ACE2 facilitate SARS-CoV-2. virus entry and transmission

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EL4 , DRTAA , HHST2 , SPH4 , BGW , DI

related resource

Blood Group Antigen Mutation Database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS