SNX27
Sorting nexin-27
Also known as: KIAA0488, MGC20471, MY014, SNX27_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96L92
- Gene
- SNX27
- Ensembl
- ENSG00000143376
- Chromosome
- 1
- Canonical length
- 541 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins, Transporters
- Subcellular location
- Vesicles
OverviewNCBI Gene
This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
541 residues, UniProt reviewed canonical sequence.
>Q96L92|SNX27
1 MADEDGEGIH PSAPHRNGGG GGGGGSGLHC AGNGGGGGGG PRVVRIVKSE SGYGFNVRGQ
61 VSEGGQLRSI NGELYAPLQH VSAVLPGGAA DRAGVRKGDR ILEVNHVNVE GATHKQVVDL
121 IRAGEKELIL TVLSVPPHEA DNLDPSDDSL GQSFYDYTEK QAVPISVPRY KHVEQNGEKF
181 VVYNVYMAGR QLCSKRYREF AILHQNLKRE FANFTFPRLP GKWPFSLSEQ QLDARRRGLE
241 EYLEKVCSIR VIGESDIMQE FLSESDENYN GVSDVELRVA LPDGTTVTVR VKKNSTTDQV
301 YQAIAAKVGM DSTTVNYFAL FEVISHSFVR KLAPNEFPHK LYIQNYTSAV PGTCLTIRKW
361 LFTTEEEILL NDNDLAVTYF FHQAVDDVKK GYIKAEEKSY QLQKLYEQRK MVMYLNMLRT
421 CEGYNEIIFP HCACDSRRKG HVITAISITH FKLHACTEEG QLENQVIAFE WDEMQRWDTD
481 EEGMAFCFEY ARGEKKPRWV KIFTPYFNYM HECFERVFCE LKWRKENIFQ MARSQQRDVA
541 TLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SNX27 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
- 0
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 22 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 22 nTPM
- basal ganglia: 21 nTPM
- tongue: 20 nTPM
- skeletal muscle: 20 nTPM
- spinal cord: 19 nTPM
- midbrain: 18 nTPM
Single-cell type
- neutrophils: 527 nCPM
- syncytiotrophoblasts: 206 nCPM
- neutrophil progenitors: 178 nCPM
- kupffer cells: 155 nCPM
- monocytes: 143 nCPM
- monocyte progenitors: 130 nCPM
Immune cell
- neutrophil: 41 nTPM
- classical monocyte: 36 nTPM
- non-classical monocyte: 35 nTPM
- intermediate monocyte: 31 nTPM
- basophil: 22 nTPM
- total PBMC: 17 nTPM
Brain region
- basal ganglia: 66 nTPM
- hypothalamus: 64 nTPM
- midbrain: 62 nTPM
- medulla oblongata: 61 nTPM
- pons: 60 nTPM
- white matter: 60 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SNX27.
Disease | GeneticClinVar
22 pathogenic / likely-pathogenic of 484 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Severe myoclonic epilepsy in infancy
- DAMSEH-DANSON NEURODEVELOPMENTAL DISORDER
- See cases
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)
- 0.19
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.17
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endocytic recycling
- endosomal transport
- endosome to lysosome transport
- intracellular protein transport
- regulation of postsynaptic membrane neurotransmitter receptor levels
- regulation of synapse maturation
- signal transduction
- establishment of natural killer cell polarity
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ras-associating domain
- PDZ domain
- Phox homology
- Ubiquitin-like domain superfamily
- PDZ superfamily
- PX domain superfamily
- PDZ domain
- PX domain
- Ras association (RalGDS/AF-6) domain
- SNX27, atypical FERM-like domain
- SNX27, PX domain
- SNX27, RA domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SNX27 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 SNX27 as an antibody target. Whether an autoantibody or antibody against SNX27 could matter depends on whether native SNX27 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SNX27 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 SNX27 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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