Seroatlas · Human Serome Atlas

SLC30A9

Proton-coupled zinc antiporter SLC30A9, mitochondrial

Also known as: C4orf1, GAC63, HUEL, ZNT9, ZNT9_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q6PML9
Gene: SLC30A9
Ensembl: ENSG00000014824
Chromosome: 4
Canonical length: 568 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

Enables zinc ion transmembrane transporter activity. Involved in intracellular zinc ion homeostasis; regulation of mitochondrion organization; and zinc ion transport. Located in several cellular components, including cytoplasmic vesicle; endoplasmic reticulum; and mitochondrial membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

568 residues, UniProt reviewed canonical sequence.

>Q6PML9|SLC30A9
     1  MLPGLAAAAA HRCSWSSLCR LRLRCRAAAC NPSDRQEWQN LVTFGSFSNM VPCSHPYIGT
    61  LSQVKLYSTN VQKEGQGSQT LRVEKVPSFE TAEGIGTELK APLKQEPLQV RVKAVLKKRE
   121  YGSKYTQNNF ITGVRAINEF CLKSSDLEQL RKIRRRSPHE DTESFTVYLR SDVEAKSLEV
   181  WGSPEALARE KKLRKEAEIE YRERLFRNQK ILREYRDFLG NTKPRSRTAS VFFKGPGKVV
   241  MVAICINGLN CFFKFLAWIY TGSASMFSEA IHSLSDTCNQ GLLALGISKS VQTPDPSHPY
   301  GFSNMRYISS LISGVGIFMM GAGLSWYHGV MGLLHPQPIE SLLWAYCILA GSLVSEGATL
   361  LVAVNELRRN ARAKGMSFYK YVMESRDPST NVILLEDTAA VLGVIIAATC MGLTSITGNP
   421  LYDSLGSLGV GTLLGMVSAF LIYTNTEALL GRSIQPEQVQ RLTELLENDP SVRAIHDVKA
   481  TDLGLGKVRF KAEVDFDGRV VTRSYLEKQD FDQMLQEIQE VKTPEELETF MLKHGENIID
   541  TLGAEVDRLE KELKKRNPEV RHVDLEIL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC30A9 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: Other membrane
Secreted: No
Transmembrane segments: 5
Mean surface accessibility (rSASA): 0.41
Highest tissue expression: 29 nTPM

Expression across tissuesHPA

Tissue

kidney: 29 nTPM
parathyroid gland: 21 nTPM
heart muscle: 20 nTPM
tongue: 19 nTPM
retina: 18 nTPM
cerebral cortex: 18 nTPM

Single-cell type

somatotrophs: 229 nCPM
lactotrophs: 216 nCPM
thyrotrophs: 181 nCPM
renal collecting duct intercalated cells: 172 nCPM
myonuclei: 159 nCPM
corticotrophs: 158 nCPM

Immune cell

basophil: 3 nTPM
myeloid DC: 2.5 nTPM
intermediate monocyte: 2.3 nTPM
NK-cell: 2.1 nTPM
non-classical monocyte: 1.9 nTPM
classical monocyte: 1.8 nTPM

Brain region

cerebral cortex: 23 nTPM
basal ganglia: 22 nTPM
choroid plexus: 21 nTPM
hippocampal formation: 21 nTPM
hypothalamus: 21 nTPM
cerebellum: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC30A9.

Disease | AllUniProt

Conditions SLC30A9 is implicated in, by any mechanism.

Birk-Landau-Perez syndrome (BILAPES) MIM:617595

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 101 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Inborn genetic diseases

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: 1.85
DepMap mean gene effect: -0.14
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

Cation efflux
Putative DNA-binding domain superfamily
Cation efflux transmembrane domain superfamily
XPA domain superfamily
Cation efflux protein, transmembrane domain
Cation efflux transmembrane domain
Proton-coupled zinc antiporter SLC30A9

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC30A9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC30A9 as an antibody target. Whether an autoantibody or antibody against SLC30A9 could matter depends on whether native SLC30A9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC30A9 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SLC30A9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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