Seroatlas · Human Serome Atlas

SLC12A4

Solute carrier family 12 member 4

Also known as: KCC1, S12A4_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UP95
Gene: SLC12A4
Ensembl: ENSG00000124067
Chromosome: 16
Canonical length: 1085 aa
Protein class: FDA approved drug targets, Metabolic proteins, Predicted membrane proteins, Transporters
Subcellular location: Nucleoplasm,Cell Junctions,Cytokinetic bridge,Primary cilium
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

Canonical amino-acid sequenceUniProt

1085 residues, UniProt reviewed canonical sequence.

>Q9UP95|SLC12A4
     1  MPHFTVVPVD GPRRGDYDNL EGLSWVDYGE RAELDDSDGH GNHRESSPFL SPLEASRGID
    61  YYDRNLALFE EELDIRPKVS SLLGKLVSYT NLTQGAKEHE EAESGEGTRR RAAEAPSMGT
   121  LMGVYLPCLQ NIFGVILFLR LTWMVGTAGV LQALLIVLIC CCCTLLTAIS MSAIATNGVV
   181  PAGGSYFMIS RSLGPEFGGA VGLCFYLGTT FAAAMYILGA IEILLTYIAP PAAIFYPSGA
   241  HDTSNATLNN MRVYGTIFLT FMTLVVFVGV KYVNKFASLF LACVIISILS IYAGGIKSIF
   301  DPPVFPVCML GNRTLSRDQF DICAKTAVVD NETVATQLWS FFCHSPNLTT DSCDPYFMLN
   361  NVTEIPGIPG AAAGVLQENL WSAYLEKGDI VEKHGLPSAD APSLKESLPL YVVADIATSF
   421  TVLVGIFFPS VTGIMAGSNR SGDLRDAQKS IPVGTILAII TTSLVYFSSV VLFGACIEGV
   481  VLRDKYGDGV SRNLVVGTLA WPSPWVIVIG SFFSTCGAGL QSLTGAPRLL QAIAKDNIIP
   541  FLRVFGHGKV NGEPTWALLL TALIAELGIL IASLDMVAPI LSMFFLMCYL FVNLACAVQT
   601  LLRTPNWRPR FKYYHWALSF LGMSLCLALM FVSSWYYALV AMLIAGMIYK YIEYQGAEKE
   661  WGDGIRGLSL SAARYALLRL EEGPPHTKNW RPQLLVLLKL DEDLHVKYPR LLTFASQLKA
   721  GKGLTIVGSV IQGSFLESYG EAQAAEQTIK NMMEIEKVKG FCQVVVASKV REGLAHLIQS
   781  CGLGGMRHNS VVLGWPYGWR QSEDPRAWKT FIDTVRCTTA AHLALLVPKN IAFYPSNHER
   841  YLEGHIDVWW IVHDGGMLML LPFLLRQHKV WRKCRMRIFT VAQMDDNSIQ MKKDLAVFLY
   901  HLRLEAEVEV VEMHNSDISA YTYERTLMME QRSQMLRQMR LTKTEREREA QLVKDRHSAL
   961  RLESLYSDEE DESAVGADKI QMTWTRDKYM TETWDPSHAP DNFRELVHIK PDQSNVRRMH
  1021  TAVKLNEVIV TRSHDARLVL LNMPGPPRNS EGDENYMEFL EVLTEGLERV LLVRGGGREV
  1081  ITIYS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC12A4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 9
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 41 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 41 nTPM
heart muscle: 40 nTPM
choroid plexus: 37 nTPM
thyroid gland: 33 nTPM
lung: 31 nTPM
endometrium: 29 nTPM

Single-cell type

syncytiotrophoblasts: 81 nCPM
alveolar cells type 1: 52 nCPM
bergmann glia: 38 nCPM
peritubular myoid cells: 37 nCPM
cytotrophoblasts: 37 nCPM
choroid plexus epithelial cells: 34 nCPM

Immune cell

basophil: 2.7 nTPM
classical monocyte: 1.4 nTPM
non-classical monocyte: 1.2 nTPM
intermediate monocyte: 1.1 nTPM
myeloid DC: 0.9 nTPM
NK-cell: 0.7 nTPM

Brain region

choroid plexus: 116 nTPM
medulla oblongata: 31 nTPM
midbrain: 30 nTPM
cerebellum: 26 nTPM
spinal cord: 25 nTPM
thalamus: 25 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.68
gnomAD pLI: 0
gnomAD missense Z: 1.35
DepMap mean gene effect: -0.01
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC12A4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

AP3M1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC12A4 as an antibody target. Whether an autoantibody or antibody against SLC12A4 could matter depends on whether native SLC12A4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC12A4 is annotated at the cell surface, where native SLC12A4 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SLC12A4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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