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Protein

Solute carrier family 12 member 9

Gene

SLC12A9

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

Functioni

May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function.1 Publication

GO - Molecular functioni

Complete GO annotation...

Keywords - Biological processi

Transport

Protein family/group databases

TCDBi2.A.30.3.3. the cation-chloride cotransporter (ccc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 12 member 9
Alternative name(s):
Cation-chloride cotransporter 6
Short name:
hCCC6
Cation-chloride cotransporter-interacting protein 1
Short name:
CCC-interacting protein 1
Short name:
hCIP1
Potassium-chloride transporter 9
WO3.3
Gene namesi
Name:SLC12A9
Synonyms:CCC6, CIP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:17435. SLC12A9.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 36CytoplasmicSequence analysisAdd BLAST36
Transmembranei37 – 57HelicalSequence analysisAdd BLAST21
Topological domaini58 – 72ExtracellularSequence analysisAdd BLAST15
Transmembranei73 – 93HelicalSequence analysisAdd BLAST21
Topological domaini94 – 119CytoplasmicSequence analysisAdd BLAST26
Transmembranei120 – 140HelicalSequence analysisAdd BLAST21
Topological domaini141 – 167ExtracellularSequence analysisAdd BLAST27
Transmembranei168 – 188HelicalSequence analysisAdd BLAST21
Topological domaini189 – 193CytoplasmicSequence analysis5
Transmembranei194 – 214HelicalSequence analysisAdd BLAST21
Topological domaini215 – 262ExtracellularSequence analysisAdd BLAST48
Transmembranei263 – 283HelicalSequence analysisAdd BLAST21
Topological domaini284 – 297CytoplasmicSequence analysisAdd BLAST14
Transmembranei298 – 318HelicalSequence analysisAdd BLAST21
Topological domaini319 – 338ExtracellularSequence analysisAdd BLAST20
Transmembranei339 – 359HelicalSequence analysisAdd BLAST21
Topological domaini360 – 390CytoplasmicSequence analysisAdd BLAST31
Transmembranei391 – 411HelicalSequence analysisAdd BLAST21
Topological domaini412 – 416ExtracellularSequence analysis5
Transmembranei417 – 437HelicalSequence analysisAdd BLAST21
Topological domaini438 – 466CytoplasmicSequence analysisAdd BLAST29
Transmembranei467 – 487HelicalSequence analysisAdd BLAST21
Topological domaini488 – 740ExtracellularSequence analysisAdd BLAST253
Transmembranei741 – 761HelicalSequence analysisAdd BLAST21
Topological domaini762 – 914CytoplasmicSequence analysisAdd BLAST153

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: ProtInc
  • plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi56996.
OpenTargetsiENSG00000146828.
PharmGKBiPA134921585.

Polymorphism and mutation databases

BioMutaiSLC12A9.
DMDMi74752435.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003314151 – 914Solute carrier family 12 member 9Add BLAST914

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei6PhosphoserineCombined sources1
Glycosylationi228N-linked (GlcNAc...)Sequence analysis1
Glycosylationi243N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9BXP2.
MaxQBiQ9BXP2.
PaxDbiQ9BXP2.
PeptideAtlasiQ9BXP2.
PRIDEiQ9BXP2.

PTM databases

iPTMnetiQ9BXP2.
PhosphoSitePlusiQ9BXP2.

Expressioni

Tissue specificityi

Highly expressed in placenta, brain and kidney. Lower expression in lung, liver and heart.

Gene expression databases

BgeeiENSG00000146828.
CleanExiHS_SLC12A9.
ExpressionAtlasiQ9BXP2. baseline and differential.
GenevisibleiQ9BXP2. HS.

Interactioni

Subunit structurei

Interacts with SLC12A1.1 Publication

Protein-protein interaction databases

BioGridi121311. 20 interactors.
IntActiQ9BXP2. 2 interactors.
STRINGi9606.ENSP00000275730.

Structurei

3D structure databases

ProteinModelPortaliQ9BXP2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SLC12A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1288. Eukaryota.
COG0531. LUCA.
GeneTreeiENSGT00760000119053.
HOGENOMiHOG000018183.
HOVERGENiHBG106223.
InParanoidiQ9BXP2.
KOiK14429.
OMAiISGCTEG.
OrthoDBiEOG091G02RC.
PhylomeDBiQ9BXP2.
TreeFamiTF313191.

Family and domain databases

InterProiIPR004841. AA-permease/SLC12A_dom.
IPR018491. SLC12_C.
IPR030345. SLC12A9.
[Graphical view]
PANTHERiPTHR11827:SF52. PTHR11827:SF52. 2 hits.
PfamiPF00324. AA_permease. 1 hit.
PF03522. SLC12. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9BXP2-1) [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
MASESSPLLA YRLLGEEGVA LPANGAGGPG GASARKLSTF LGVVVPTVLS
60 70 80 90 100
MFSIVVFLRI GFVVGHAGLL QALAMLLVAY FILALTVLSV CAIATNGAVQ
110 120 130 140 150
GGGAYFMISR TLGPEVGGSI GLMFYLANVC GCAVSLLGLV ESVLDVFGAD
160 170 180 190 200
ATGPSGLRVL PQGYGWNLLY GSLLLGLVGG VCTLGAGLYA RASFLTFLLV
210 220 230 240 250
SGSLASVLIS FVAVGPRDIR LTPRPGPNGS SLPPRFGHFT GFNSSTLKDN
260 270 280 290 300
LGAGYAEDYT TGAVMNFASV FAVLFNGCTG IMAGANMSGE LKDPSRAIPL
310 320 330 340 350
GTIVAVAYTF FVYVLLFFLS SFTCDRTLLQ EDYGFFRAIS LWPPLVLIGI
360 370 380 390 400
YATALSASMS SLIGASRILH ALARDDLFGV ILAPAKVVSR GGNPWAAVLY
410 420 430 440 450
SWGLVQLVLL AGKLNTLAAV VTVFYLVAYA AVDLSCLSLE WASAPNFRPT
460 470 480 490 500
FSLFSWHTCL LGVASCLLMM FLISPGAAGG SLLLMGLLAA LLTARGGPSS
510 520 530 540 550
WGYVSQALLF HQVRKYLLRL DVRKDHVKFW RPQLLLLVGN PRGALPLLRL
560 570 580 590 600
ANQLKKGGLY VLGHVTLGDL DSLPSDPVQP QYGAWLSLVD RAQVKAFVDL
610 620 630 640 650
TLSPSVRQGA QHLLRISGLG GMKPNTLVLG FYDDAPPQDH FLTDPAFSEP
660 670 680 690 700
ADSTREGSSP ALSTLFPPPR APGSPRALNP QDYVATVADA LKMNKNVVLA
710 720 730 740 750
RASGALPPER LSRGSGGTSQ LHHVDVWPLN LLRPRGGPGY VDVCGLFLLQ
760 770 780 790 800
MATILGMVPA WHSARLRIFL CLGPREAPGA AEGRLRALLS QLRIRAEVQE
810 820 830 840 850
VVWGEGAGAG EPEAEEEGDF VNSGRGDAEA EALARSANAL VRAQQGRGTG
860 870 880 890 900
GGPGGPEGGD AEGPITALTF LYLPRPPADP ARYPRYLALL ETLTRDLGPT
910
LLVHGVTPVT CTDL
Length:914
Mass (Da):96,110
Last modified:June 1, 2001 - v1
Checksum:i8096855B78078CA4
GO
Isoform 2 (identifier: Q9BXP2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     61-149: Missing.
     620-627: GGMKPNTL → ESNSHPLP
     628-914: Missing.

Note: No experimental confirmation available.
Show »
Length:538
Mass (Da):57,053
Checksum:i1E36DCF67FB49ACC
GO
Isoform 3 (identifier: Q9BXP2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     620-627: GGMKPNTL → ESNSHPLP
     628-914: Missing.

Note: No experimental confirmation available.
Show »
Length:627
Mass (Da):65,959
Checksum:i36091DE907D29704
GO
Isoform 4 (identifier: Q9BXP2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     620-631: GGMKPNTLVLGF → ESGTLLPWGFRS
     632-914: Missing.

Note: No experimental confirmation available.
Show »
Length:631
Mass (Da):66,429
Checksum:iC3C8C3DEE2094DAF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti10A → T in BAH13476 (PubMed:14702039).Curated1
Sequence conflicti222T → S in BAB40456 (Ref. 3) Curated1
Sequence conflicti231S → A in BAB40456 (Ref. 3) Curated1
Sequence conflicti269S → N in AAF88060 (PubMed:10871601).Curated1
Sequence conflicti602L → F in AAF88060 (PubMed:10871601).Curated1
Sequence conflicti857E → K in BAB40456 (Ref. 3) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03319261 – 149Missing in isoform 2. 1 PublicationAdd BLAST89
Alternative sequenceiVSP_045591620 – 631GGMKP…LVLGF → ESGTLLPWGFRS in isoform 4. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_033193620 – 627GGMKPNTL → ESNSHPLP in isoform 2 and isoform 3. 1 Publication8
Alternative sequenceiVSP_033194628 – 914Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST287
Alternative sequenceiVSP_045592632 – 914Missing in isoform 4. 1 PublicationAdd BLAST283

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF284422 mRNA. Translation: AAF88060.1.
AF312032 Genomic DNA. Translation: AAK21008.1.
AF312032 Genomic DNA. Translation: AAK21009.1.
AB033284 mRNA. Translation: BAB40456.1.
AK301411 mRNA. Translation: BAH13476.1.
AC011895 Genomic DNA. No translation available.
CH236956 Genomic DNA. Translation: EAL23818.1.
CH471091 Genomic DNA. Translation: EAW76475.1.
CH471091 Genomic DNA. Translation: EAW76476.1.
CH471091 Genomic DNA. Translation: EAW76483.1.
CH471091 Genomic DNA. Translation: EAW76480.1.
CH471091 Genomic DNA. Translation: EAW76484.1.
CH471091 Genomic DNA. Translation: EAW76485.1.
BC000154 mRNA. Translation: AAH00154.1.
CCDSiCCDS5707.1. [Q9BXP2-1]
CCDS59068.1. [Q9BXP2-4]
CCDS59069.1. [Q9BXP2-2]
RefSeqiNP_001254741.1. NM_001267812.1. [Q9BXP2-4]
NP_001254743.1. NM_001267814.1. [Q9BXP2-2]
NP_064631.2. NM_020246.3. [Q9BXP2-1]
UniGeneiHs.521087.

Genome annotation databases

EnsembliENST00000354161; ENSP00000275730; ENSG00000146828. [Q9BXP2-1]
ENST00000415287; ENSP00000413796; ENSG00000146828. [Q9BXP2-2]
ENST00000540482; ENSP00000443702; ENSG00000146828. [Q9BXP2-4]
GeneIDi56996.
KEGGihsa:56996.
UCSCiuc003uwp.5. human. [Q9BXP2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF284422 mRNA. Translation: AAF88060.1.
AF312032 Genomic DNA. Translation: AAK21008.1.
AF312032 Genomic DNA. Translation: AAK21009.1.
AB033284 mRNA. Translation: BAB40456.1.
AK301411 mRNA. Translation: BAH13476.1.
AC011895 Genomic DNA. No translation available.
CH236956 Genomic DNA. Translation: EAL23818.1.
CH471091 Genomic DNA. Translation: EAW76475.1.
CH471091 Genomic DNA. Translation: EAW76476.1.
CH471091 Genomic DNA. Translation: EAW76483.1.
CH471091 Genomic DNA. Translation: EAW76480.1.
CH471091 Genomic DNA. Translation: EAW76484.1.
CH471091 Genomic DNA. Translation: EAW76485.1.
BC000154 mRNA. Translation: AAH00154.1.
CCDSiCCDS5707.1. [Q9BXP2-1]
CCDS59068.1. [Q9BXP2-4]
CCDS59069.1. [Q9BXP2-2]
RefSeqiNP_001254741.1. NM_001267812.1. [Q9BXP2-4]
NP_001254743.1. NM_001267814.1. [Q9BXP2-2]
NP_064631.2. NM_020246.3. [Q9BXP2-1]
UniGeneiHs.521087.

3D structure databases

ProteinModelPortaliQ9BXP2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121311. 20 interactors.
IntActiQ9BXP2. 2 interactors.
STRINGi9606.ENSP00000275730.

Protein family/group databases

TCDBi2.A.30.3.3. the cation-chloride cotransporter (ccc) family.

PTM databases

iPTMnetiQ9BXP2.
PhosphoSitePlusiQ9BXP2.

Polymorphism and mutation databases

BioMutaiSLC12A9.
DMDMi74752435.

Proteomic databases

EPDiQ9BXP2.
MaxQBiQ9BXP2.
PaxDbiQ9BXP2.
PeptideAtlasiQ9BXP2.
PRIDEiQ9BXP2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354161; ENSP00000275730; ENSG00000146828. [Q9BXP2-1]
ENST00000415287; ENSP00000413796; ENSG00000146828. [Q9BXP2-2]
ENST00000540482; ENSP00000443702; ENSG00000146828. [Q9BXP2-4]
GeneIDi56996.
KEGGihsa:56996.
UCSCiuc003uwp.5. human. [Q9BXP2-1]

Organism-specific databases

CTDi56996.
DisGeNETi56996.
GeneCardsiSLC12A9.
H-InvDBHIX0201124.
HGNCiHGNC:17435. SLC12A9.
MIMi616861. gene.
neXtProtiNX_Q9BXP2.
OpenTargetsiENSG00000146828.
PharmGKBiPA134921585.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1288. Eukaryota.
COG0531. LUCA.
GeneTreeiENSGT00760000119053.
HOGENOMiHOG000018183.
HOVERGENiHBG106223.
InParanoidiQ9BXP2.
KOiK14429.
OMAiISGCTEG.
OrthoDBiEOG091G02RC.
PhylomeDBiQ9BXP2.
TreeFamiTF313191.

Miscellaneous databases

ChiTaRSiSLC12A9. human.
GeneWikiiSLC12A9.
GenomeRNAii56996.
PROiQ9BXP2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000146828.
CleanExiHS_SLC12A9.
ExpressionAtlasiQ9BXP2. baseline and differential.
GenevisibleiQ9BXP2. HS.

Family and domain databases

InterProiIPR004841. AA-permease/SLC12A_dom.
IPR018491. SLC12_C.
IPR030345. SLC12A9.
[Graphical view]
PANTHERiPTHR11827:SF52. PTHR11827:SF52. 2 hits.
PfamiPF00324. AA_permease. 1 hit.
PF03522. SLC12. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiS12A9_HUMAN
AccessioniPrimary (citable) accession number: Q9BXP2
Secondary accession number(s): B7Z740
, D6W5X0, D6W5X2, F5H8C2, Q9BWL2, Q9BXP1, Q9BYI0, Q9NQR5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: June 1, 2001
Last modified: November 2, 2016
This is version 120 of the entry and version 1 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.