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Q9BXP2 (S12A9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SLC12A9
Synonyms:CCC6, CIP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length914 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1

Subunit structure

Interacts with SLC12A1. Ref.1

Subcellular location

Cell membrane; Multi-pass membrane protein Ref.1.

Tissue specificity

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

Sequence similarities

Belongs to the SLC12A transporter family.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BXP2-1)

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.
Isoform 2 (identifier: Q9BXP2-2)

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.
Isoform 3 (identifier: Q9BXP2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     620-627: GGMKPNTL → ESNSHPLP
     628-914: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9BXP2-4)

The sequence of this isoform differs from the canonical sequence as follows:
     620-631: GGMKPNTLVLGF → ESGTLLPWGFRS
     632-914: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 914914Solute carrier family 12 member 9
PRO_0000331415

Regions

Topological domain1 – 3636Cytoplasmic Potential
Transmembrane37 – 5721Helical; Potential
Topological domain58 – 7215Extracellular Potential
Transmembrane73 – 9321Helical; Potential
Topological domain94 – 11926Cytoplasmic Potential
Transmembrane120 – 14021Helical; Potential
Topological domain141 – 16727Extracellular Potential
Transmembrane168 – 18821Helical; Potential
Topological domain189 – 1935Cytoplasmic Potential
Transmembrane194 – 21421Helical; Potential
Topological domain215 – 26248Extracellular Potential
Transmembrane263 – 28321Helical; Potential
Topological domain284 – 29714Cytoplasmic Potential
Transmembrane298 – 31821Helical; Potential
Topological domain319 – 33820Extracellular Potential
Transmembrane339 – 35921Helical; Potential
Topological domain360 – 39031Cytoplasmic Potential
Transmembrane391 – 41121Helical; Potential
Topological domain412 – 4165Extracellular Potential
Transmembrane417 – 43721Helical; Potential
Topological domain438 – 46629Cytoplasmic Potential
Transmembrane467 – 48721Helical; Potential
Topological domain488 – 740253Extracellular Potential
Transmembrane741 – 76121Helical; Potential
Topological domain762 – 914153Cytoplasmic Potential

Amino acid modifications

Glycosylation2281N-linked (GlcNAc...) Potential
Glycosylation2431N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence61 – 14989Missing in isoform 2.
VSP_033192
Alternative sequence620 – 63112GGMKP…LVLGF → ESGTLLPWGFRS in isoform 4.
VSP_045591
Alternative sequence620 – 6278GGMKPNTL → ESNSHPLP in isoform 2 and isoform 3.
VSP_033193
Alternative sequence628 – 914287Missing in isoform 2 and isoform 3.
VSP_033194
Alternative sequence632 – 914283Missing in isoform 4.
VSP_045592

Experimental info

Sequence conflict101A → T in BAH13476. Ref.4
Sequence conflict2221T → S in BAB40456. Ref.3
Sequence conflict2311S → A in BAB40456. Ref.3
Sequence conflict2691S → N in AAF88060. Ref.1
Sequence conflict6021L → F in AAF88060. Ref.1
Sequence conflict8571E → K in BAB40456. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 8096855B78078CA4

FASTA91496,110
        10         20         30         40         50         60 
MASESSPLLA YRLLGEEGVA LPANGAGGPG GASARKLSTF LGVVVPTVLS MFSIVVFLRI 

        70         80         90        100        110        120 
GFVVGHAGLL QALAMLLVAY FILALTVLSV CAIATNGAVQ GGGAYFMISR TLGPEVGGSI 

       130        140        150        160        170        180 
GLMFYLANVC GCAVSLLGLV ESVLDVFGAD ATGPSGLRVL PQGYGWNLLY GSLLLGLVGG 

       190        200        210        220        230        240 
VCTLGAGLYA RASFLTFLLV SGSLASVLIS FVAVGPRDIR LTPRPGPNGS SLPPRFGHFT 

       250        260        270        280        290        300 
GFNSSTLKDN LGAGYAEDYT TGAVMNFASV FAVLFNGCTG IMAGANMSGE LKDPSRAIPL 

       310        320        330        340        350        360 
GTIVAVAYTF FVYVLLFFLS SFTCDRTLLQ EDYGFFRAIS LWPPLVLIGI YATALSASMS 

       370        380        390        400        410        420 
SLIGASRILH ALARDDLFGV ILAPAKVVSR GGNPWAAVLY SWGLVQLVLL AGKLNTLAAV 

       430        440        450        460        470        480 
VTVFYLVAYA AVDLSCLSLE WASAPNFRPT FSLFSWHTCL LGVASCLLMM FLISPGAAGG 

       490        500        510        520        530        540 
SLLLMGLLAA LLTARGGPSS WGYVSQALLF HQVRKYLLRL DVRKDHVKFW RPQLLLLVGN 

       550        560        570        580        590        600 
PRGALPLLRL ANQLKKGGLY VLGHVTLGDL DSLPSDPVQP QYGAWLSLVD RAQVKAFVDL 

       610        620        630        640        650        660 
TLSPSVRQGA QHLLRISGLG GMKPNTLVLG FYDDAPPQDH FLTDPAFSEP ADSTREGSSP 

       670        680        690        700        710        720 
ALSTLFPPPR APGSPRALNP QDYVATVADA LKMNKNVVLA RASGALPPER LSRGSGGTSQ 

       730        740        750        760        770        780 
LHHVDVWPLN LLRPRGGPGY VDVCGLFLLQ MATILGMVPA WHSARLRIFL CLGPREAPGA 

       790        800        810        820        830        840 
AEGRLRALLS QLRIRAEVQE VVWGEGAGAG EPEAEEEGDF VNSGRGDAEA EALARSANAL 

       850        860        870        880        890        900 
VRAQQGRGTG GGPGGPEGGD AEGPITALTF LYLPRPPADP ARYPRYLALL ETLTRDLGPT 

       910 
LLVHGVTPVT CTDL 

« Hide

Isoform 2 [UniParc].

Checksum: 1E36DCF67FB49ACC
Show »

FASTA53857,053
Isoform 3 [UniParc].

Checksum: 36091DE907D29704
Show »

FASTA62765,959
Isoform 4 [UniParc].

Checksum: C3C8C3DEE2094DAF
Show »

FASTA63166,429

References

« Hide 'large scale' references
[1]"Cloning and functional characterization of a cation-Cl-cotransporter-interacting protein."
Caron L., Rousseau F., Gagnon E., Isenring P.
J. Biol. Chem. 275:32027-32036(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SLC12A1.
Tissue: Heart.
[2]"Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5."
Wilson M.D., Riemer C., Martindale D.W., Schnupf P., Boright A.P., Cheung T.L., Hardy D.M., Schwartz S., Scherer S.W., Tsui L.-C., Miller W., Koop B.F.
Nucleic Acids Res. 29:1352-1365(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 3).
[3]"Molecular cloning of human cation chloride cotransporter 6."
Ishibashi K.
Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Synovium.
[5]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Placenta.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS5707.1. [Q9BXP2-1]
CCDS59068.1. [Q9BXP2-4]
CCDS59069.1. [Q9BXP2-2]
RefSeqNP_001254741.1. NM_001267812.1. [Q9BXP2-4]
NP_001254743.1. NM_001267814.1. [Q9BXP2-2]
NP_064631.2. NM_020246.3. [Q9BXP2-1]
UniGeneHs.521087.

3D structure databases

ProteinModelPortalQ9BXP2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121311. 1 interaction.
STRING9606.ENSP00000275730.

Protein family/group databases

TCDB2.A.30.3.3. the cation-chloride cotransporter (ccc) family.

PTM databases

PhosphoSiteQ9BXP2.

Polymorphism databases

DMDM74752435.

Proteomic databases

MaxQBQ9BXP2.
PaxDbQ9BXP2.
PRIDEQ9BXP2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000275729; ENSP00000275729; ENSG00000146828. [Q9BXP2-2]
ENST00000354161; ENSP00000275730; ENSG00000146828. [Q9BXP2-1]
ENST00000415287; ENSP00000413796; ENSG00000146828. [Q9BXP2-2]
ENST00000428758; ENSP00000408301; ENSG00000146828. [Q9BXP2-3]
ENST00000540482; ENSP00000443702; ENSG00000146828. [Q9BXP2-4]
GeneID56996.
KEGGhsa:56996.
UCSCuc003uwp.4. human. [Q9BXP2-1]
uc003uwq.4. human. [Q9BXP2-2]

Organism-specific databases

CTD56996.
GeneCardsGC07P100424.
H-InvDBHIX0201124.
HGNCHGNC:17435. SLC12A9.
neXtProtNX_Q9BXP2.
PharmGKBPA134921585.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0531.
HOVERGENHBG106223.
InParanoidQ9BXP2.
KOK14429.
OMAGHFTGFN.
OrthoDBEOG7GN2M6.
PhylomeDBQ9BXP2.
TreeFamTF313191.

Gene expression databases

ArrayExpressQ9BXP2.
BgeeQ9BXP2.
CleanExHS_SLC12A9.
GenevestigatorQ9BXP2.

Family and domain databases

InterProIPR004841. AA-permease/SLC12A_dom.
[Graphical view]
PfamPF00324. AA_permease. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSLC12A9. human.
GeneWikiSLC12A9.
GenomeRNAi56996.
NextBio62707.
PROQ9BXP2.

Entry information

Entry nameS12A9_HUMAN
AccessionPrimary (citable) accession number: Q9BXP2
Secondary accession number(s): B7Z740 expand/collapse secondary AC list , D6W5X0, D6W5X2, F5H8C2, Q9BWL2, Q9BXP1, Q9BYI0, Q9NQR5
Entry history
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 99 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM