SLC49A4
Solute carrier family 49 member 4
Also known as: DIRC2, DIRC2_HUMAN, FLJ14784, RCC4
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96SL1
- Gene
- SLC49A4
- Ensembl
- ENSG00000138463
- Chromosome
- 3
- Canonical length
- 478 aa
- Protein class
- Disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Vesicles
OverviewNCBI Gene
This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
478 residues, UniProt reviewed canonical sequence.
>Q96SL1|SLC49A4
1 MGSRWSSEEE RQPLLGPGLG PGLGASWRSR EAAAAALPAA VPGPGRVYGR RWLVLLLFSL
61 LAFVQGLVWN TWGPIQNSAR QAYGFSSWDI ALLVLWGPIG FLPCFAFMWL LDKRGLRITV
121 LLTSFLMVLG TGLRCIPISD LILKRRLIHG GQMLNGLAGP TVMNAAPFLS TTWFSADERA
181 TATAIASMLS YLGGACAFLV GPLVVPAPNG TSPLLAAESS RAHIKDRIEA VLYAEFGVVC
241 LIFSATLAYF PPRPPLPPSV AAASQRLSYR RSVCRLLSNF RFLMIALAYA IPLGVFAGWS
301 GVLDLILTPA HVSQVDAGWI GFWSIVGGCV VGIAMARFAD FIRGMLKLIL LLLFSGATLS
361 STWFTLTCLN SITHLPLTTV TLYASCILLG VFLNSSVPIF FELFVETVYP VPEGITCGVV
421 TFLSNMFMGV LLFFLTFYHT ELSWFNWCLP GSCLLSLLLI LCFRESYDRL YLDVVVSVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC49A4 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
- 12
- Mean surface accessibility (rSASA)
- 0.24
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 17 nTPM
- tongue: 13 nTPM
- parathyroid gland: 12 nTPM
- pancreas: 7.2 nTPM
- placenta: 7.1 nTPM
- skin: 6.2 nTPM
Single-cell type
- neutrophils: 1,106 nCPM
- syncytiotrophoblasts: 589 nCPM
- myonuclei: 327 nCPM
- neutrophil progenitors: 258 nCPM
- monocytes: 255 nCPM
- macrophages: 177 nCPM
Immune cell
- neutrophil: 0.9 nTPM
- classical monocyte: 0.2 nTPM
- gdT-cell: 0.2 nTPM
- intermediate monocyte: 0.2 nTPM
- non-classical monocyte: 0.2 nTPM
- myeloid DC: 0.1 nTPM
Brain region
- choroid plexus: 13 nTPM
- hypothalamus: 12 nTPM
- white matter: 12 nTPM
- thalamus: 12 nTPM
- hippocampal formation: 12 nTPM
- pons: 12 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)
- 1.16
- gnomAD pLI
- 0
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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
- Major facilitator superfamily
- MFS transporter superfamily
- Choline/ethanolamine transporter FLVCR1-2/SLC49-like
- Major Facilitator Superfamily
- Solute carrier family 49 member 4-like
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC49A4 as an antibody target. Whether an autoantibody or antibody against SLC49A4 could matter depends on whether native SLC49A4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC49A4 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 SLC49A4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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