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FLASH GENE

Symbol

SLC4A11

contributors: shn - updated : 15-04-2010

HGNC name	solute carrier family 4, sodium borate transporter, member 11
HGNC id	16438

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDPD1 corneal dystrophy associated with teen-age perceptive deafness CHED2 congenital hereditary endothelial dystrophy of the cornea 2 FECD4 corneal dystrophy, Fuchs endothelial 4 KTCN9 keratoconus 9
Location	20p13      Physical location : 3.208.063 - 3.219.887
Synonym name	bicarbonate transporter related protein 1
	sodium borate cotransporter 1
	solute carrier family 4 member 11
	solute carrier family 4, sodium bicarbonate transporter-like, member 11
Synonym symbol(s)	BTR1, MGC126418, MGC126419, NABC1, dJ794I6, RP4-794I6.3

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	10.31 kb     19 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - D20S842 - D20S181 - SLC4A11 - D20S193 - D20S473 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032034 (transcript variant 2) 19 splicing 3110 NP_114423 90 891 mainly in the kidney Parker et al, 2001 NM_001174090 (transcript variant 1) 20 splicing 3268 NP_001167561 90 918 mainly in the kidney Parker et al, 2001 NM_001174089 (transcript variant 3) 20 splicing 3118 NP_001167560 90 875 mainly in the kidney Parker et al, 2001

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 Digestive mouth tongue       Endocrine thyroid       predominantly Hearing/Equilibrium ear inner     moderately Reproductive female system ovary         male system testis     predominantly Urinary kidney tubule Henles loop   highly Visual eye anterior segment cornea     Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	14 transmembrane domains and intracellular N and C termini
	multiple intracellular phosphorylation sites and 2 extracellular N-glycosylation sites

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to Slc4a11, Mus musculus
	ortholog to slc4a11, Danio rerio

Homologene

FAMILY	anion exchanger family
	solute carrier family 4 of bicarbonate transporters

CATEGORY

transport

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	membrane-bound sodium-borate cotransporter, playing an essential role in cell growth and proliferation in cells
	essential for borate homeostasis (Park et al, 2004)
	having a key role in the growth and terminal differentiation of neural crest cells during the formation of the endothelium
	essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph (Groger 2010)
	major role of SLC4A11 in ion homeostasis and fluid transport across various epithelial barriers (Groger 2010)
	role for mediating a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (Groger 2010)
	necessary for cell survival which may explain the pathologic corneal endothelial cell loss in endotheliopathies due to SLC4A11 mutations
	in corneal endothelium, SLC4A11 displays robust Na&
	8314;-coupled OH&
	8315; transport
	cooperative role of AQP1 and SLC4A11 in mediating trans-endothelial water reabsorption

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CHED2 , CDPD1 , FECD4 , KTCN9

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Slc4a11(-/-) mice manifest corneal oedema and distorted endothelial cells, consistent with loss of a water-flux