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Protein

Solute carrier family 12 member 8

Gene

SLC12A8

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

Functioni

Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ion transport, Potassium transport, Symport, Transport

Keywords - Ligandi

Chloride, Potassium

Enzyme and pathway databases

BioCyciZFISH:G66-32932-MONOMER.

Protein family/group databases

TCDBi2.A.30.3.4. the cation-chloride cotransporter (ccc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 12 member 8
Alternative name(s):
Cation-chloride cotransporter 9
Gene namesi
Name:SLC12A8
Synonyms:CCC9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:15595. SLC12A8.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei37 – 60HelicalSequence analysisAdd BLAST24
Transmembranei72 – 93HelicalSequence analysisAdd BLAST22
Transmembranei99 – 116HelicalSequence analysisAdd BLAST18
Transmembranei123 – 142HelicalSequence analysisAdd BLAST20
Transmembranei154 – 173HelicalSequence analysisAdd BLAST20
Transmembranei185 – 205HelicalSequence analysisAdd BLAST21
Transmembranei233 – 254HelicalSequence analysisAdd BLAST22
Transmembranei266 – 289HelicalSequence analysisAdd BLAST24
Transmembranei309 – 331HelicalSequence analysisAdd BLAST23
Transmembranei360 – 377HelicalSequence analysisAdd BLAST18
Transmembranei383 – 403HelicalSequence analysisAdd BLAST21
Transmembranei593 – 616HelicalSequence analysisAdd BLAST24
Transmembranei622 – 643HelicalSequence analysisAdd BLAST22

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

SLC12A8 has been identified as a possible susceptibility gene for psoriasis mapped to chromosome 3q21 (PSORS5).

Organism-specific databases

DisGeNETi84561.
OpenTargetsiENSG00000221955.
PharmGKBiPA37991.

Polymorphism and mutation databases

BioMutaiSLC12A8.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003052871 – 714Solute carrier family 12 member 8Add BLAST714

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi221N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiA0AV02.
PaxDbiA0AV02.
PRIDEiA0AV02.
TopDownProteomicsiA0AV02-3. [A0AV02-3]
A0AV02-5. [A0AV02-5]

PTM databases

iPTMnetiA0AV02.
PhosphoSitePlusiA0AV02.

Expressioni

Tissue specificityi

Ubiquitous with very low level in normal skin.1 Publication

Gene expression databases

BgeeiENSG00000221955.
ExpressionAtlasiA0AV02. baseline and differential.
GenevisibleiA0AV02. HS.

Organism-specific databases

HPAiHPA031123.

Interactioni

Protein-protein interaction databases

BioGridi124140. 1 interactor.
IntActiA0AV02. 2 interactors.
STRINGi9606.ENSP00000377112.

Structurei

3D structure databases

ProteinModelPortaliA0AV02.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SLC12A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2083. Eukaryota.
COG0531. LUCA.
GeneTreeiENSGT00760000119053.
HOVERGENiHBG108430.
InParanoidiA0AV02.
KOiK14428.
OMAiTKNWYSG.
OrthoDBiEOG091G02VO.
TreeFamiTF313191.

Family and domain databases

InterProiIPR004841. AA-permease/SLC12A_dom.
[Graphical view]
PfamiPF00324. AA_permease. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A0AV02-1) [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
MTQMSQVQEL FHEAAQQDAL AQPQPWWKTQ LFMWEPVLFG TWDGVFTSCM
60 70 80 90 100
INIFGVVLFL RTGWLVGNTG VLLGMFLVSF VILVALVTVL SGIGVGERSS
110 120 130 140 150
IGSGGVYSMI SSVLGGQTGG TIGLLYVFGQ CVAGAMYITG FAESISDLLG
160 170 180 190 200
LGNIWAVRGI SVAVLLALLG INLAGVKWII RLQLLLLFLL AVSTLDFVVG
210 220 230 240 250
SFTHLDPEHG FIGYSPELLQ NNTLPDYSPG ESFFTVFGVF FPAATGVMAG
260 270 280 290 300
FNMGGDLREP AASIPLGSLA AVGISWFLYI IFVFLLGAIC TREALRYDFL
310 320 330 340 350
IAEKVSLMGF LFLLGLYISS LASCMGGLYG APRILQCIAQ EKVIPALACL
360 370 380 390 400
GQGKGPNKTP VAAICLTSLV TMAFVFVGQV NVLAPIVTIN FMLTYVAVDY
410 420 430 440 450
SYFSLSMCSC SLTPVPEPVL REGAEGLHCS EHLLLEKAPS YGSEGPAQRV
460 470 480 490 500
LEGTLLEFTK DMDQLLQLTR KLESSQPRQG EGNRTPESQK RKSKKATKQT
510 520 530 540 550
LQDSFLLDLK SPPSFPVEIS DRLPAASWEG QESCWNKQTS KSEGTQPEGT
560 570 580 590 600
YGEQLVPELC NQSESSGEDF FLKSRLQEQD VWRRSTSFYT HMCNPWVSLL
610 620 630 640 650
GAVGSLLIMF VIQWVYTLVN MGVAAIVYFY IGRASPGLHL GSASNFSFFR
660 670 680 690 700
WMRSLLLPSC RSLRSPQEQI ILAPSLAKVD MEMTQLTQEN ADFATRDRYH
710
HSSLVNREQL MPHY
Length:714
Mass (Da):78,239
Last modified:May 27, 2015 - v4
Checksum:iCE7669E9758EF00D
GO
Isoform 2 (identifier: A0AV02-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MTQMSQVQELFHEAAQQ → MLPLERTITYRDMSSFIQVKNHFNVVNVTCVSYRSTCFRDMRRFIL

Note: No experimental confirmation available.
Show »
Length:743
Mass (Da):81,822
Checksum:i420D387CDFADA24E
GO
Isoform 3 (identifier: A0AV02-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-199: Missing.
     200-245: GSFTHLDPEH...VFGVFFPAAT → MRRAAAGGLA...SPHSPSGCLS

Note: No experimental confirmation available.
Show »
Length:515
Mass (Da):56,176
Checksum:i340D0E6B609D2C06
GO
Isoform 4 (identifier: A0AV02-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-247: Missing.
     569-661: DFFLKSRLQE...MRSLLLPSCR → G

Note: No experimental confirmation available.
Show »
Length:375
Mass (Da):41,075
Checksum:iC1C5A06109382EB5
GO
Isoform 5 (identifier: A0AV02-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-406: Missing.

Note: No experimental confirmation available.
Show »
Length:308
Mass (Da):34,799
Checksum:iAF232C6971B2A80C
GO

Sequence cautioni

The sequence AAH20506 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH63528 differs from that shown. Reason: Frameshift at position 569.Curated
The sequence AAH63528 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAK94307 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAM73657 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAD97969 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti111S → P in CAH18426 (PubMed:17974005).Curated1
Sequence conflicti319S → P in AAM73657 (PubMed:11863360).Curated1
Sequence conflicti433L → P in CAG33644 (PubMed:15489334).Curated1
Sequence conflicti481E → D in BAB15571 (PubMed:14702039).Curated1
Sequence conflicti512P → L in CAH18426 (PubMed:17974005).Curated1
Sequence conflicti555L → P in CAD97969 (PubMed:17974005).Curated1
Sequence conflicti698R → H in AAO49174 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035199181R → C.1 PublicationCorresponds to variant rs2993631dbSNPEnsembl.1
Natural variantiVAR_035200266L → P.Corresponds to variant rs863642dbSNPEnsembl.1
Natural variantiVAR_062148281I → V.3 PublicationsCorresponds to variant rs621383dbSNPEnsembl.1
Natural variantiVAR_035201541K → R.Corresponds to variant rs6773138dbSNPEnsembl.1
Natural variantiVAR_035202664R → Q.1 PublicationCorresponds to variant rs2981482dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0283271 – 406Missing in isoform 5. 1 PublicationAdd BLAST406
Alternative sequenceiVSP_0283281 – 247Missing in isoform 4. 1 PublicationAdd BLAST247
Alternative sequenceiVSP_0283291 – 199Missing in isoform 3. 1 PublicationAdd BLAST199
Alternative sequenceiVSP_0283301 – 17MTQMS…EAAQQ → MLPLERTITYRDMSSFIQVK NHFNVVNVTCVSYRSTCFRD MRRFIL in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_028331200 – 245GSFTH…FPAAT → MRRAAAGGLAVGQLPGEGPA GEEGAALGKAMRGGGCSPHS PSGCLS in isoform 3. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_028332569 – 661DFFLK…LPSCR → G in isoform 4. 1 PublicationAdd BLAST93

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF389851 Genomic DNA. Translation: AAK94307.1. Sequence problems.
AF390442 mRNA. Translation: AAM73657.1. Different initiation.
AF345197 mRNA. Translation: AAO49174.1.
AK026841 mRNA. Translation: BAB15571.1.
BX538023 mRNA. Translation: CAD97969.1. Different initiation.
CR749632 mRNA. Translation: CAH18426.1.
AC055752 Genomic DNA. No translation available.
AC108688 Genomic DNA. No translation available.
AC117488 Genomic DNA. No translation available.
BC020506 mRNA. Translation: AAH20506.1. Different initiation.
BC063528 mRNA. Translation: AAH63528.1. Sequence problems.
BC126158 mRNA. Translation: AAI26159.1.
BC126160 mRNA. Translation: AAI26161.1.
CR457363 mRNA. Translation: CAG33644.1.
CCDSiCCDS43143.1. [A0AV02-1]
RefSeqiNP_001182412.1. NM_001195483.1.
NP_078904.3. NM_024628.5.
UniGeneiHs.658514.

Genome annotation databases

EnsembliENST00000393469; ENSP00000377112; ENSG00000221955. [A0AV02-1]
ENST00000430155; ENSP00000415713; ENSG00000221955. [A0AV02-3]
ENST00000469902; ENSP00000418783; ENSG00000221955. [A0AV02-1]
GeneIDi84561.
KEGGihsa:84561.
UCSCiuc003eht.4. human. [A0AV02-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF389851 Genomic DNA. Translation: AAK94307.1. Sequence problems.
AF390442 mRNA. Translation: AAM73657.1. Different initiation.
AF345197 mRNA. Translation: AAO49174.1.
AK026841 mRNA. Translation: BAB15571.1.
BX538023 mRNA. Translation: CAD97969.1. Different initiation.
CR749632 mRNA. Translation: CAH18426.1.
AC055752 Genomic DNA. No translation available.
AC108688 Genomic DNA. No translation available.
AC117488 Genomic DNA. No translation available.
BC020506 mRNA. Translation: AAH20506.1. Different initiation.
BC063528 mRNA. Translation: AAH63528.1. Sequence problems.
BC126158 mRNA. Translation: AAI26159.1.
BC126160 mRNA. Translation: AAI26161.1.
CR457363 mRNA. Translation: CAG33644.1.
CCDSiCCDS43143.1. [A0AV02-1]
RefSeqiNP_001182412.1. NM_001195483.1.
NP_078904.3. NM_024628.5.
UniGeneiHs.658514.

3D structure databases

ProteinModelPortaliA0AV02.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124140. 1 interactor.
IntActiA0AV02. 2 interactors.
STRINGi9606.ENSP00000377112.

Protein family/group databases

TCDBi2.A.30.3.4. the cation-chloride cotransporter (ccc) family.

PTM databases

iPTMnetiA0AV02.
PhosphoSitePlusiA0AV02.

Polymorphism and mutation databases

BioMutaiSLC12A8.

Proteomic databases

MaxQBiA0AV02.
PaxDbiA0AV02.
PRIDEiA0AV02.
TopDownProteomicsiA0AV02-3. [A0AV02-3]
A0AV02-5. [A0AV02-5]

Protocols and materials databases

DNASUi84561.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000393469; ENSP00000377112; ENSG00000221955. [A0AV02-1]
ENST00000430155; ENSP00000415713; ENSG00000221955. [A0AV02-3]
ENST00000469902; ENSP00000418783; ENSG00000221955. [A0AV02-1]
GeneIDi84561.
KEGGihsa:84561.
UCSCiuc003eht.4. human. [A0AV02-1]

Organism-specific databases

CTDi84561.
DisGeNETi84561.
GeneCardsiSLC12A8.
HGNCiHGNC:15595. SLC12A8.
HPAiHPA031123.
MIMi611316. gene.
neXtProtiNX_A0AV02.
OpenTargetsiENSG00000221955.
PharmGKBiPA37991.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2083. Eukaryota.
COG0531. LUCA.
GeneTreeiENSGT00760000119053.
HOVERGENiHBG108430.
InParanoidiA0AV02.
KOiK14428.
OMAiTKNWYSG.
OrthoDBiEOG091G02VO.
TreeFamiTF313191.

Enzyme and pathway databases

BioCyciZFISH:G66-32932-MONOMER.

Miscellaneous databases

ChiTaRSiSLC12A8. human.
GeneWikiiSLC12A8.
GenomeRNAii84561.
PROiA0AV02.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000221955.
ExpressionAtlasiA0AV02. baseline and differential.
GenevisibleiA0AV02. HS.

Family and domain databases

InterProiIPR004841. AA-permease/SLC12A_dom.
[Graphical view]
PfamiPF00324. AA_permease. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiS12A8_HUMAN
AccessioniPrimary (citable) accession number: A0AV02
Secondary accession number(s): C9JJJ2
, Q68D04, Q6I9Z2, Q6P4C0, Q7Z3A6, Q86WK0, Q8NFX9, Q8WUI3, Q96RF9, Q9H5P9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: May 27, 2015
Last modified: November 30, 2016
This is version 80 of the entry and version 4 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 3
    Human chromosome 3: 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.