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Protein

Sodium bicarbonate transporter-like protein 11

Gene

SLC4A11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transporter which plays an important role in sodium-mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (By similarity). Involved in borate homeostasis. In the absence of borate, it functions as a Na+ and OH-(H+) channel. In the presence of borate functions as an electrogenic Na+ coupled borate cotransporter.By similarity2 Publications

GO - Molecular functioni

  • anion:anion antiporter activity Source: UniProtKB-KW
  • bicarbonate transmembrane transporter activity Source: HGNC
  • borate transmembrane transporter activity Source: HGNC
  • hydrogen ion channel activity Source: HGNC
  • inorganic anion exchanger activity Source: InterPro
  • protein dimerization activity Source: UniProtKB
  • sodium channel activity Source: HGNC
  • symporter activity Source: UniProtKB-KW

GO - Biological processi

  • bicarbonate transport Source: HGNC
  • borate transport Source: HGNC
  • cellular cation homeostasis Source: HGNC
  • fluid transport Source: UniProtKB
  • proton transport Source: HGNC
  • regulation of intracellular pH Source: GO_Central
  • sodium ion transport Source: HGNC
Complete GO annotation...

Keywords - Biological processi

Anion exchange, Ion transport, Symport, Transport

Protein family/group databases

TCDBi2.A.31.4.1. the anion exchanger (ae) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium bicarbonate transporter-like protein 11
Alternative name(s):
Bicarbonate transporter-related protein 1
Sodium borate cotransporter 1
Short name:
NaBC1
Solute carrier family 4 member 11
Gene namesi
Name:SLC4A11
Synonyms:BTR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:16438. SLC4A11.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 375CytoplasmicSequence analysisAdd BLAST375
Transmembranei376 – 396HelicalSequence analysisAdd BLAST21
Transmembranei416 – 436HelicalSequence analysisAdd BLAST21
Transmembranei466 – 486HelicalSequence analysisAdd BLAST21
Transmembranei493 – 513HelicalSequence analysisAdd BLAST21
Topological domaini514 – 571ExtracellularSequence analysisAdd BLAST58
Transmembranei572 – 592HelicalSequence analysisAdd BLAST21
Topological domaini593 – 653CytoplasmicSequence analysisAdd BLAST61
Transmembranei654 – 674HelicalSequence analysisAdd BLAST21
Transmembranei700 – 720HelicalSequence analysisAdd BLAST21
Transmembranei759 – 779HelicalSequence analysisAdd BLAST21
Transmembranei782 – 802HelicalSequence analysisAdd BLAST21
Transmembranei831 – 851HelicalSequence analysisAdd BLAST21
Transmembranei853 – 873HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • basolateral plasma membrane Source: HGNC
  • integral component of plasma membrane Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Corneal dystrophy and perceptive deafness (CDPD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss.
See also OMIM:217400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034946213S → P in CDPD. 1 PublicationCorresponds to variant rs121909395dbSNPEnsembl.1
Natural variantiVAR_034947488R → K in CDPD. 1 PublicationCorresponds to variant rs121909393dbSNPEnsembl.1
Natural variantiVAR_034951843L → P in CDPD. 1 PublicationCorresponds to variant rs121909394dbSNPEnsembl.1
Natural variantiVAR_034953856M → V in CDPD. 1 PublicationCorresponds to variant rs121909396dbSNPEnsembl.1
Corneal endothelial dystrophy (CHED)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.
See also OMIM:217700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063713125R → H in CHED. 1 Publication1
Natural variantiVAR_067272143E → K in CHED; the mutant protein is retained intracellularly; coexpression with wild-type protein partially rescues the cell surface trafficking of CHED2 mutant. 2 Publications1
Natural variantiVAR_034945160A → T in CHED. 2 PublicationsCorresponds to variant rs752287261dbSNPEnsembl.1
Natural variantiVAR_064978209R → W in CHED. 1 PublicationCorresponds to variant rs566507872dbSNPEnsembl.1
Natural variantiVAR_064979213S → L in CHED. 1 PublicationCorresponds to variant rs759667344dbSNPEnsembl.1
Natural variantiVAR_064980233R → C in CHED. 1 PublicationCorresponds to variant rs762942751dbSNPEnsembl.1
Natural variantiVAR_063714269A → V in CHED; affects transport to the cell surface. 2 Publications1
Natural variantiVAR_063715386C → R in CHED; the mutant protein is retained intracellularly; coexpression with wild-type protein partially rescues the cell surface trafficking of CHED2 mutant. 4 Publications1
Natural variantiVAR_064981394G → R in CHED. 2 PublicationsCorresponds to variant rs780171125dbSNPEnsembl.1
Natural variantiVAR_064982401T → K in CHED. 1 Publication1
Natural variantiVAR_064983418G → D in CHED. 2 Publications1
Natural variantiVAR_030662464G → D in CHED; affects protein processing and transport to the cell surface. 1 PublicationCorresponds to variant rs121909389dbSNPEnsembl.1
Natural variantiVAR_064984473L → R in CHED. 1 Publication1
Natural variantiVAR_030663489S → L in CHED; affects protein processing and transport to the cell surface. 2 PublicationsCorresponds to variant rs121909388dbSNPEnsembl.1
Natural variantiVAR_064985584T → K in CHED. 1 Publication1
Natural variantiVAR_074015675E → A in CHED. 1 PublicationCorresponds to variant rs749826950dbSNPEnsembl.1
Natural variantiVAR_030664755R → Q in CHED; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein partially rescues the cell surface trafficking of CHED mutant. 4 PublicationsCorresponds to variant rs121909387dbSNPEnsembl.1
Natural variantiVAR_063716755R → W in CHED. 4 PublicationsCorresponds to variant rs757553189dbSNPEnsembl.1
Natural variantiVAR_063717773P → L in CHED. 2 Publications1
Natural variantiVAR_034948804R → H in CHED. 1 PublicationCorresponds to variant rs766567944dbSNPEnsembl.1
Natural variantiVAR_034949824V → M in CHED; deafness not assessed. 3 PublicationsCorresponds to variant rs757244518dbSNPEnsembl.1
Natural variantiVAR_034950833T → M in CHED. 1 Publication1
Natural variantiVAR_030665869R → C in CHED; affects protein processing and transport to the cell surface. 3 PublicationsCorresponds to variant rs121909391dbSNPEnsembl.1
Natural variantiVAR_034954869R → H in CHED. 1 PublicationCorresponds to variant rs121909392dbSNPEnsembl.1
Natural variantiVAR_063718873L → P in CHED. 1 Publication1
Corneal dystrophy, Fuchs endothelial, 4 (FECD4)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
See also OMIM:613268
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064422167E → D in FECD4; interferes with post-translational processing; the mutant protein localizes to the cytoplasm. 1 PublicationCorresponds to variant rs141836046dbSNPEnsembl.1
Natural variantiVAR_075537240W → S in FECD4; decreases cell surface expression; abolishes functional activity. 1 Publication1
Natural variantiVAR_064423282R → P in FECD4; interferes with post-translational processing; the mutant protein localizes to the cytoplasm. 1 Publication1
Natural variantiVAR_047809399E → K in FECD4; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein does not rescue the cell surface trafficking of FECD4 mutant. 3 PublicationsCorresponds to variant rs267607065dbSNPEnsembl.1
Natural variantiVAR_075538434T → I in FECD4; decreases cell surface expression; highly reduces functional activity. 1 Publication1
Natural variantiVAR_075539507V → I in FECD4; slightly decreases cell surface expression; reduces. 1 PublicationCorresponds to variant rs532728316dbSNPEnsembl.1
Natural variantiVAR_064424526Y → C in FECD4; does not interferes with post-translational processing; the mutant protein partially localizes to the cytoplasm. 1 PublicationCorresponds to variant rs150571742dbSNPEnsembl.1
Natural variantiVAR_064425575V → M in FECD4; does not interferes with post-translational processing; the mutant protein partially localizes to the cytoplasm. 1 PublicationCorresponds to variant rs144734280dbSNPEnsembl.1
Natural variantiVAR_064426583G → D in FECD4; interferes with post-translational processing; the mutant protein localizes to the cytoplasm. 1 PublicationCorresponds to variant rs139078082dbSNPEnsembl.1
Natural variantiVAR_047812709G → E in FECD4; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein does not rescue the cell surface trafficking of FECD4 mutant. 2 PublicationsCorresponds to variant rs267607064dbSNPEnsembl.1
Natural variantiVAR_064427742G → R in FECD4; interferes with post-translational processing; the mutant protein partially localizes to the cytoplasm. 1 PublicationCorresponds to variant rs143965185dbSNPEnsembl.1
Natural variantiVAR_047813754T → M in FECD4; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein does not rescue the cell surface trafficking of FECD4 mutant. 2 PublicationsCorresponds to variant rs267607066dbSNPEnsembl.1
Natural variantiVAR_064428834G → S in FECD4; does not interferes with post-translational processing; the mutant protein partially localizes to the cytoplasm. 1 PublicationCorresponds to variant rs144586846dbSNPEnsembl.1

Keywords - Diseasei

Corneal dystrophy, Deafness, Disease mutation

Organism-specific databases

DisGeNETi83959.
MalaCardsiSLC4A11.
MIMi217400. phenotype.
217700. phenotype.
613268. phenotype.
OpenTargetsiENSG00000088836.
Orphaneti293603. Congenital hereditary endothelial dystrophy type II.
1490. Corneal dystrophy - perceptive deafness.
98974. Fuchs endothelial corneal dystrophy.
PharmGKBiPA38139.

Polymorphism and mutation databases

BioMutaiSLC4A11.
DMDMi29611858.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000792361 – 891Sodium bicarbonate transporter-like protein 11Add BLAST891

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi545N-linked (GlcNAc...)Sequence analysis1
Glycosylationi553N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

Glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8NBS3.
PaxDbiQ8NBS3.
PeptideAtlasiQ8NBS3.
PRIDEiQ8NBS3.

PTM databases

iPTMnetiQ8NBS3.
PhosphoSitePlusiQ8NBS3.

Expressioni

Tissue specificityi

Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium. Not detected in retina and lymphocytes.2 Publications

Gene expression databases

BgeeiENSG00000088836.
CleanExiHS_SLC4A11.
ExpressionAtlasiQ8NBS3. baseline and differential.
GenevisibleiQ8NBS3. HS.

Organism-specific databases

HPAiHPA018120.
HPA058377.

Interactioni

Subunit structurei

Homodimer.

GO - Molecular functioni

  • protein dimerization activity Source: UniProtKB

Protein-protein interaction databases

STRINGi9606.ENSP00000369399.

Structurei

3D structure databases

ProteinModelPortaliQ8NBS3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni376 – 891Membrane (bicarbonate transporter)Add BLAST516

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1172. Eukaryota.
ENOG410XPHD. LUCA.
GeneTreeiENSGT00760000119021.
HOGENOMiHOG000016966.
HOVERGENiHBG079162.
InParanoidiQ8NBS3.
KOiK13862.
OMAiNSFYAWT.
OrthoDBiEOG091G01E4.
PhylomeDBiQ8NBS3.
TreeFamiTF313630.

Family and domain databases

Gene3Di3.40.930.10. 1 hit.
InterProiIPR011531. HCO3_transpt_C.
IPR003020. HCO3_transpt_euk.
IPR016152. PTrfase/Anion_transptr.
IPR002178. PTS_EIIA_type-2_dom.
[Graphical view]
PANTHERiPTHR11453. PTHR11453. 1 hit.
PfamiPF00955. HCO3_cotransp. 1 hit.
[Graphical view]
PRINTSiPR01231. HCO3TRNSPORT.
SUPFAMiSSF55804. SSF55804. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NBS3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSQVGGRGDR CTQEVQGLVH GAGDLSASLA ENSPTMSQNG YFEDSSYYKC
60 70 80 90 100
DTDDTFEARE EILGDEAFDT ANSSIVSGES IRFFVNVNLE MQATNTENEA
110 120 130 140 150
TSGGCVLLHT SRKYLKLKNF KEEIRAHRDL DGFLAQASIV LNETATSLDN
160 170 180 190 200
VLRTMLRRFA RDPDNNEPNC NLDLLMAMLF TDAGAPMRGK VHLLSDTIQG
210 220 230 240 250
VTATVTGVRY QQSWLCIICT MKALQKRHVC ISRLVRPQNW GENSCEVRFV
260 270 280 290 300
ILVLAPPKMK STKTAMEVAR TFATMFSDIA FRQKLLETRT EEEFKEALVH
310 320 330 340 350
QRQLLTMVSH GPVAPRTKER STVSLPAHRH PEPPKCKDFV PFGKGIREDI
360 370 380 390 400
ARRFPLYPLD FTDGIIGKNK AVGKYITTTL FLYFACLLPT IAFGSLNDEN
410 420 430 440 450
TDGAIDVQKT IAGQSIGGLL YALFSGQPLV ILLTTAPLAL YIQVIRVICD
460 470 480 490 500
DYDLDFNSFY AWTGLWNSFF LALYAFFNLS LVMSLFKRST EEIIALFISI
510 520 530 540 550
TFVLDAVKGT VKIFWKYYYG HYLDDYHTKR TSSLVSLSGL GASLNASLHT
560 570 580 590 600
ALNASFLASP TELPSATHSG QATAVLSLLI MLGTLWLGYT LYQFKKSPYL
610 620 630 640 650
HPCVREILSD CALPIAVLAF SLISSHGFRE IEMSKFRYNP SESPFAMAQI
660 670 680 690 700
QSLSLRAVSG AMGLGFLLSM LFFIEQNLVA ALVNAPENRL VKGTAYHWDL
710 720 730 740 750
LLLAIINTGL SLFGLPWIHA AYPHSPLHVR ALALVEERVE NGHIYDTIVN
760 770 780 790 800
VKETRLTSLG ASVLVGLSLL LLPVPLQWIP KPVLYGLFLY IALTSLDGNQ
810 820 830 840 850
LVQRVALLLK EQTAYPPTHY IRRVPQRKIH YFTGLQVLQL LLLCAFGMSS
860 870 880 890
LPYMKMIFPL IMIAMIPIRY ILLPRIIEAK YLDVMDAEHR P
Length:891
Mass (Da):99,581
Last modified:April 4, 2003 - v2
Checksum:i06AC2FED156BF535
GO
Isoform 2 (identifier: Q8NBS3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-482: Missing.

Note: No experimental confirmation available.
Show »
Length:409
Mass (Da):45,762
Checksum:iA3AED736B90209A7
GO
Isoform 3 (identifier: Q8NBS3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: MSQVGGRGDRCTQEVQGLVHGAGDLSASLA → MAAATRRVFHLQPC

Note: No experimental confirmation available.
Show »
Length:875
Mass (Da):98,181
Checksum:i6BEDDC9939BADF10
GO
Isoform 4 (identifier: Q8NBS3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: MSQVGGRGDRCTQEVQGLVHGAGDLSASLA → MGVYGPQDRS...FLRKTWISEH

Show »
Length:918
Mass (Da):103,145
Checksum:iBA314E50D8F6CD48
GO

Sequence cautioni

The sequence BAC11536 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAB90170 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAD55942 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti324S → P in BAC11536 (PubMed:14702039).Curated1
Sequence conflicti576L → P in BAG59341 (PubMed:14702039).Curated1
Sequence conflicti684N → S in BAG59140 (PubMed:14702039).Curated1
Sequence conflicti784L → R in AAI10541 (PubMed:15489334).Curated1
Sequence conflicti834G → D in BAG59341 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04780672N → T.1 Publication1
Natural variantiVAR_04780791M → V.1 PublicationCorresponds to variant rs200940928dbSNPEnsembl.1
Natural variantiVAR_063713125R → H in CHED. 1 Publication1
Natural variantiVAR_067272143E → K in CHED; the mutant protein is retained intracellularly; coexpression with wild-type protein partially rescues the cell surface trafficking of CHED2 mutant. 2 Publications1
Natural variantiVAR_034944150N → S.Corresponds to variant rs34520315dbSNPEnsembl.1
Natural variantiVAR_034945160A → T in CHED. 2 PublicationsCorresponds to variant rs752287261dbSNPEnsembl.1
Natural variantiVAR_064422167E → D in FECD4; interferes with post-translational processing; the mutant protein localizes to the cytoplasm. 1 PublicationCorresponds to variant rs141836046dbSNPEnsembl.1
Natural variantiVAR_064978209R → W in CHED. 1 PublicationCorresponds to variant rs566507872dbSNPEnsembl.1
Natural variantiVAR_064979213S → L in CHED. 1 PublicationCorresponds to variant rs759667344dbSNPEnsembl.1
Natural variantiVAR_034946213S → P in CDPD. 1 PublicationCorresponds to variant rs121909395dbSNPEnsembl.1
Natural variantiVAR_064980233R → C in CHED. 1 PublicationCorresponds to variant rs762942751dbSNPEnsembl.1
Natural variantiVAR_075537240W → S in FECD4; decreases cell surface expression; abolishes functional activity. 1 Publication1
Natural variantiVAR_063714269A → V in CHED; affects transport to the cell surface. 2 Publications1
Natural variantiVAR_064423282R → P in FECD4; interferes with post-translational processing; the mutant protein localizes to the cytoplasm. 1 Publication1
Natural variantiVAR_047808327A → V.1 PublicationCorresponds to variant rs760889152dbSNPEnsembl.1
Natural variantiVAR_063715386C → R in CHED; the mutant protein is retained intracellularly; coexpression with wild-type protein partially rescues the cell surface trafficking of CHED2 mutant. 4 Publications1
Natural variantiVAR_064981394G → R in CHED. 2 PublicationsCorresponds to variant rs780171125dbSNPEnsembl.1
Natural variantiVAR_047809399E → K in FECD4; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein does not rescue the cell surface trafficking of FECD4 mutant. 3 PublicationsCorresponds to variant rs267607065dbSNPEnsembl.1
Natural variantiVAR_064982401T → K in CHED. 1 Publication1
Natural variantiVAR_015521408Q → H.1 Publication1
Natural variantiVAR_015522409K → N.1 Publication1
Natural variantiVAR_064983418G → D in CHED. 2 Publications1
Natural variantiVAR_075538434T → I in FECD4; decreases cell surface expression; highly reduces functional activity. 1 Publication1
Natural variantiVAR_030662464G → D in CHED; affects protein processing and transport to the cell surface. 1 PublicationCorresponds to variant rs121909389dbSNPEnsembl.1
Natural variantiVAR_064984473L → R in CHED. 1 Publication1
Natural variantiVAR_015523483M → T.1 Publication1
Natural variantiVAR_034947488R → K in CDPD. 1 PublicationCorresponds to variant rs121909393dbSNPEnsembl.1
Natural variantiVAR_030663489S → L in CHED; affects protein processing and transport to the cell surface. 2 PublicationsCorresponds to variant rs121909388dbSNPEnsembl.1
Natural variantiVAR_075539507V → I in FECD4; slightly decreases cell surface expression; reduces. 1 PublicationCorresponds to variant rs532728316dbSNPEnsembl.1
Natural variantiVAR_064424526Y → C in FECD4; does not interferes with post-translational processing; the mutant protein partially localizes to the cytoplasm. 1 PublicationCorresponds to variant rs150571742dbSNPEnsembl.1
Natural variantiVAR_047810561T → M.1 PublicationCorresponds to variant rs755379986dbSNPEnsembl.1
Natural variantiVAR_047811565S → L.1 PublicationCorresponds to variant rs754745672dbSNPEnsembl.1
Natural variantiVAR_064425575V → M in FECD4; does not interferes with post-translational processing; the mutant protein partially localizes to the cytoplasm. 1 PublicationCorresponds to variant rs144734280dbSNPEnsembl.1
Natural variantiVAR_064426583G → D in FECD4; interferes with post-translational processing; the mutant protein localizes to the cytoplasm. 1 PublicationCorresponds to variant rs139078082dbSNPEnsembl.1
Natural variantiVAR_064985584T → K in CHED. 1 Publication1
Natural variantiVAR_074015675E → A in CHED. 1 PublicationCorresponds to variant rs749826950dbSNPEnsembl.1
Natural variantiVAR_015524708T → A.1 Publication1
Natural variantiVAR_047812709G → E in FECD4; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein does not rescue the cell surface trafficking of FECD4 mutant. 2 PublicationsCorresponds to variant rs267607064dbSNPEnsembl.1
Natural variantiVAR_064427742G → R in FECD4; interferes with post-translational processing; the mutant protein partially localizes to the cytoplasm. 1 PublicationCorresponds to variant rs143965185dbSNPEnsembl.1
Natural variantiVAR_047813754T → M in FECD4; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein does not rescue the cell surface trafficking of FECD4 mutant. 2 PublicationsCorresponds to variant rs267607066dbSNPEnsembl.1
Natural variantiVAR_030664755R → Q in CHED; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein partially rescues the cell surface trafficking of CHED mutant. 4 PublicationsCorresponds to variant rs121909387dbSNPEnsembl.1
Natural variantiVAR_063716755R → W in CHED. 4 PublicationsCorresponds to variant rs757553189dbSNPEnsembl.1
Natural variantiVAR_063717773P → L in CHED. 2 Publications1
Natural variantiVAR_034948804R → H in CHED. 1 PublicationCorresponds to variant rs766567944dbSNPEnsembl.1
Natural variantiVAR_034949824V → M in CHED; deafness not assessed. 3 PublicationsCorresponds to variant rs757244518dbSNPEnsembl.1
Natural variantiVAR_034950833T → M in CHED. 1 Publication1
Natural variantiVAR_064428834G → S in FECD4; does not interferes with post-translational processing; the mutant protein partially localizes to the cytoplasm. 1 PublicationCorresponds to variant rs144586846dbSNPEnsembl.1
Natural variantiVAR_034951843L → P in CDPD. 1 PublicationCorresponds to variant rs121909394dbSNPEnsembl.1
Natural variantiVAR_034952848M → I.Corresponds to variant rs34224785dbSNPEnsembl.1
Natural variantiVAR_034953856M → V in CDPD. 1 PublicationCorresponds to variant rs121909396dbSNPEnsembl.1
Natural variantiVAR_030665869R → C in CHED; affects protein processing and transport to the cell surface. 3 PublicationsCorresponds to variant rs121909391dbSNPEnsembl.1
Natural variantiVAR_034954869R → H in CHED. 1 PublicationCorresponds to variant rs121909392dbSNPEnsembl.1
Natural variantiVAR_063718873L → P in CHED. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0358911 – 482Missing in isoform 2. 1 PublicationAdd BLAST482
Alternative sequenceiVSP_0448461 – 30MSQVG…SASLA → MAAATRRVFHLQPC in isoform 3. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_0540491 – 30MSQVG…SASLA → MGVYGPQDRSESEKRDVQRD PPPWHPRREGERPARARSLP LAAAGQGFLRKTWISEH in isoform 4. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF336127 mRNA. Translation: AAK16734.1.
AK075303 mRNA. Translation: BAC11536.1. Different initiation.
AK296508 mRNA. Translation: BAG59140.1.
AK296760 mRNA. Translation: BAG59341.1.
AL109976 Genomic DNA. Translation: CAD55941.1.
AL109976 Genomic DNA. Translation: CAD55942.1. Sequence problems.
AL109976 Genomic DNA. Translation: CAB90170.4. Sequence problems.
CH471133 Genomic DNA. Translation: EAX10536.1.
BC110540 mRNA. Translation: AAI10541.1.
BC110541 mRNA. Translation: AAI10542.1.
CCDSiCCDS13052.1. [Q8NBS3-1]
CCDS54445.1. [Q8NBS3-4]
CCDS54446.1. [Q8NBS3-3]
RefSeqiNP_001167560.1. NM_001174089.1. [Q8NBS3-3]
NP_001167561.1. NM_001174090.1. [Q8NBS3-4]
NP_114423.1. NM_032034.3. [Q8NBS3-1]
UniGeneiHs.105607.

Genome annotation databases

EnsembliENST00000380056; ENSP00000369396; ENSG00000088836. [Q8NBS3-1]
ENST00000380059; ENSP00000369399; ENSG00000088836. [Q8NBS3-4]
ENST00000539553; ENSP00000441370; ENSG00000088836. [Q8NBS3-3]
GeneIDi83959.
KEGGihsa:83959.
UCSCiuc002wig.3. human. [Q8NBS3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF336127 mRNA. Translation: AAK16734.1.
AK075303 mRNA. Translation: BAC11536.1. Different initiation.
AK296508 mRNA. Translation: BAG59140.1.
AK296760 mRNA. Translation: BAG59341.1.
AL109976 Genomic DNA. Translation: CAD55941.1.
AL109976 Genomic DNA. Translation: CAD55942.1. Sequence problems.
AL109976 Genomic DNA. Translation: CAB90170.4. Sequence problems.
CH471133 Genomic DNA. Translation: EAX10536.1.
BC110540 mRNA. Translation: AAI10541.1.
BC110541 mRNA. Translation: AAI10542.1.
CCDSiCCDS13052.1. [Q8NBS3-1]
CCDS54445.1. [Q8NBS3-4]
CCDS54446.1. [Q8NBS3-3]
RefSeqiNP_001167560.1. NM_001174089.1. [Q8NBS3-3]
NP_001167561.1. NM_001174090.1. [Q8NBS3-4]
NP_114423.1. NM_032034.3. [Q8NBS3-1]
UniGeneiHs.105607.

3D structure databases

ProteinModelPortaliQ8NBS3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000369399.

Protein family/group databases

TCDBi2.A.31.4.1. the anion exchanger (ae) family.

PTM databases

iPTMnetiQ8NBS3.
PhosphoSitePlusiQ8NBS3.

Polymorphism and mutation databases

BioMutaiSLC4A11.
DMDMi29611858.

Proteomic databases

MaxQBiQ8NBS3.
PaxDbiQ8NBS3.
PeptideAtlasiQ8NBS3.
PRIDEiQ8NBS3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380056; ENSP00000369396; ENSG00000088836. [Q8NBS3-1]
ENST00000380059; ENSP00000369399; ENSG00000088836. [Q8NBS3-4]
ENST00000539553; ENSP00000441370; ENSG00000088836. [Q8NBS3-3]
GeneIDi83959.
KEGGihsa:83959.
UCSCiuc002wig.3. human. [Q8NBS3-1]

Organism-specific databases

CTDi83959.
DisGeNETi83959.
GeneCardsiSLC4A11.
HGNCiHGNC:16438. SLC4A11.
HPAiHPA018120.
HPA058377.
MalaCardsiSLC4A11.
MIMi217400. phenotype.
217700. phenotype.
610206. gene.
613268. phenotype.
neXtProtiNX_Q8NBS3.
OpenTargetsiENSG00000088836.
Orphaneti293603. Congenital hereditary endothelial dystrophy type II.
1490. Corneal dystrophy - perceptive deafness.
98974. Fuchs endothelial corneal dystrophy.
PharmGKBiPA38139.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1172. Eukaryota.
ENOG410XPHD. LUCA.
GeneTreeiENSGT00760000119021.
HOGENOMiHOG000016966.
HOVERGENiHBG079162.
InParanoidiQ8NBS3.
KOiK13862.
OMAiNSFYAWT.
OrthoDBiEOG091G01E4.
PhylomeDBiQ8NBS3.
TreeFamiTF313630.

Miscellaneous databases

GeneWikiiSLC4A11.
GenomeRNAii83959.
PROiQ8NBS3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000088836.
CleanExiHS_SLC4A11.
ExpressionAtlasiQ8NBS3. baseline and differential.
GenevisibleiQ8NBS3. HS.

Family and domain databases

Gene3Di3.40.930.10. 1 hit.
InterProiIPR011531. HCO3_transpt_C.
IPR003020. HCO3_transpt_euk.
IPR016152. PTrfase/Anion_transptr.
IPR002178. PTS_EIIA_type-2_dom.
[Graphical view]
PANTHERiPTHR11453. PTHR11453. 1 hit.
PfamiPF00955. HCO3_cotransp. 1 hit.
[Graphical view]
PRINTSiPR01231. HCO3TRNSPORT.
SUPFAMiSSF55804. SSF55804. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiS4A11_HUMAN
AccessioniPrimary (citable) accession number: Q8NBS3
Secondary accession number(s): B4DKC8
, B4DKX9, G3V1M3, Q2TB62, Q2TB63, Q9BXF4, Q9NTW9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 4, 2003
Last sequence update: April 4, 2003
Last modified: November 2, 2016
This is version 135 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.