This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in functio... See more...

Aliases for VPS26A Gene

Aliases for VPS26A Gene

  • VPS26, Retromer Complex Component A 2 3 5
  • Vacuolar Protein Sorting-Associated Protein 26A 3 4
  • Vesicle Protein Sorting 26A 3 4
  • VPS26 3 4
  • Vacuolar Protein Sorting 26 Homolog A (S. Pombe) 2
  • Vacuolar Protein Sorting 26 (Yeast Homolog) 2
  • Vacuolar Protein Sorting 26 Homolog A 3
  • VPS26 Retromer Complex Comonent A 3
  • Hbeta58 3
  • HVPS26 4
  • PEP8A 3
  • HB58 3

External Ids for VPS26A Gene

Previous HGNC Symbols for VPS26A Gene

  • VPS26

Previous GeneCards Identifiers for VPS26A Gene

  • GC10P070556
  • GC10P070885
  • GC10P064883

Summaries for VPS26A Gene

Entrez Gene Summary for VPS26A Gene

  • This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for VPS26A Gene

VPS26A (VPS26, Retromer Complex Component A) is a Protein Coding gene. Diseases associated with VPS26A include Ritscher-Schinzel Syndrome and Alzheimer Disease. Among its related pathways are Signaling by Wnt and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein transporter activity. An important paralog of this gene is VPS26B.

UniProtKB/Swiss-Prot Summary for VPS26A Gene

  • Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins (Probable). The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5 (Probable). Required for retrograde transport of lysosomal enzyme receptor IGF2R (PubMed:15078902, PubMed:15078903). Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (PubMed:15247922). Required for the endosomal localization of WASHC2A (indicative for the WASH complex) (PubMed:22070227). Required for the endosomal localization of TBC1D5 (PubMed:20923837). Mediates retromer cargo recognition of SORL1 and is involved in trafficking of SORL1 implicated in sorting and processing of APP (PubMed:22279231). Involved in retromer-independent lysosomal sorting of F2R (PubMed:16407403). Involved in recycling of ADRB2 (PubMed:21602791). Enhances the affinity of SNX27 for PDZ-binding motifs in cargo proteins (By similarity).

Gene Wiki entry for VPS26A Gene

Additional gene information for VPS26A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VPS26A Gene

Genomics for VPS26A Gene

GeneHancer (GH) Regulatory Elements for VPS26A Gene

Promoters and enhancers for VPS26A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VPS26A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VPS26A

Top Transcription factor binding sites by QIAGEN in the VPS26A gene promoter:
  • AML1a
  • Egr-2
  • FOXO3
  • FOXO3a
  • FOXO3b
  • N-Myc
  • POU2F1
  • POU2F1a
  • USF-1
  • USF1

Genomic Locations for VPS26A Gene

Genomic Locations for VPS26A Gene
chr10:69,123,512-69,174,412
(GRCh38/hg38)
Size:
50,901 bases
Orientation:
Plus strand
chr10:70,883,268-70,932,617
(GRCh37/hg19)
Size:
49,350 bases
Orientation:
Plus strand

Genomic View for VPS26A Gene

Genes around VPS26A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS26A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS26A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS26A Gene

Proteins for VPS26A Gene

  • Protein details for VPS26A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75436-VP26A_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 26A
    Protein Accession:
    O75436
    Secondary Accessions:
    • A8MZ56
    • B2RDD3
    • Q8TBH4
    • Q9H982

    Protein attributes for VPS26A Gene

    Size:
    327 amino acids
    Molecular mass:
    38170 Da
    Quaternary structure:
    • Component of the heterotrimeric retromer cargo-selective complex (CSC), also descibed as vacuolar protein sorting subcomplex (VPS), formed by VPS26 (VPS26A or VPS26B), VPS29 and VPS35 (PubMed:11102511, PubMed:28892079). The CSC has a highly elongated structure with VPS26 and VPS29 binding independently at opposite distal ends of VPS35 as central platform (By similarity). The CSC is believed to associate with variable sorting nexins to form functionally distinct retromer complex variants. The originally described retromer complex (also called SNX-BAR retromer) is a pentamer containing the CSC and a heterodimeric membrane-deforming subcomplex formed between SNX1 or SNX2 and SNX5 or SNX6 (also called SNX-BAR subcomplex); the respective CSC and SNX-BAR subcomplexes associate with low affinity. The CSC associates with SNX3 to form a SNX3-retromer complex. The CSC associates with SNX27, the WASH complex and the SNX-BAR subcomplex to form the SNX27-retromer complex (Probable). Interacts with VPS29, VPS35, SNX1, SNX2, SNX5, SNX6, SNX3, SNX27, RAB7A, ECPAS, EHD1, WASHC5, SORL1 (PubMed:11102511, PubMed:16190980, PubMed:19619496, PubMed:17868075, PubMed:19531583, PubMed:20682791, PubMed:20923837, PubMed:21725319, PubMed:22279231, PubMed:24344282, PubMed:16732284, PubMed:28892079).

    Three dimensional structures from OCA and Proteopedia for VPS26A Gene

    Alternative splice isoforms for VPS26A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VPS26A Gene

Post-translational modifications for VPS26A Gene

  • Ubiquitination at Lys242
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for VPS26A
  • Boster Bio Antibodies for VPS26A

No data available for DME Specific Peptides for VPS26A Gene

Domains & Families for VPS26A Gene

Gene Families for VPS26A Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for VPS26A Gene

Blocks:
  • Vacuolar protein sorting-associated protein 26
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VPS26A Gene

GenScript: Design optimal peptide antigens:
  • Vesicle protein sorting 26A (VP26A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75436

UniProtKB/Swiss-Prot:

VP26A_HUMAN :
  • Belongs to the VPS26 family.
Family:
  • Belongs to the VPS26 family.
genes like me logo Genes that share domains with VPS26A: view

Function for VPS26A Gene

Molecular function for VPS26A Gene

UniProtKB/Swiss-Prot Function:
Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins (Probable). The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5 (Probable). Required for retrograde transport of lysosomal enzyme receptor IGF2R (PubMed:15078902, PubMed:15078903). Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (PubMed:15247922). Required for the endosomal localization of WASHC2A (indicative for the WASH complex) (PubMed:22070227). Required for the endosomal localization of TBC1D5 (PubMed:20923837). Mediates retromer cargo recognition of SORL1 and is involved in trafficking of SORL1 implicated in sorting and processing of APP (PubMed:22279231). Involved in retromer-independent lysosomal sorting of F2R (PubMed:16407403). Involved in recycling of ADRB2 (PubMed:21602791). Enhances the affinity of SNX27 for PDZ-binding motifs in cargo proteins (By similarity).
UniProtKB/Swiss-Prot Induction:
Down-regulated in Alzheimer disease. No polymorphism or variant is however associated with Alzheimer disease for VPS26A.

Phenotypes From GWAS Catalog for VPS26A Gene

Gene Ontology (GO) - Molecular Function for VPS26A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11102511
genes like me logo Genes that share ontologies with VPS26A: view
genes like me logo Genes that share phenotypes with VPS26A: view

Animal Models for VPS26A Gene

MGI Knock Outs for VPS26A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VPS26A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VPS26A Gene

Localization for VPS26A Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS26A Gene

Cytoplasm. Endosome membrane; Peripheral membrane protein. Early endosome. Note=Localizes to tubular profiles adjacent to endosomes (PubMed:15078903). Predominantly found in early not late endosomes (By similarity). {ECO:0000250 UniProtKB:P40336}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VPS26A gene
Compartment Confidence
endosome 5
cytosol 5
lysosome 4
golgi apparatus 3
plasma membrane 2
cytoskeleton 2
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endosomes (4)
  • Lysosomes (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VPS26A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IDA --
GO:0005768 endosome IDA,IBA 20682791
GO:0005769 early endosome IDA,IEA 15078903
genes like me logo Genes that share ontologies with VPS26A: view

Pathways & Interactions for VPS26A Gene

genes like me logo Genes that share pathways with VPS26A: view

Pathways by source for VPS26A Gene

1 KEGG pathway for VPS26A Gene

Gene Ontology (GO) - Biological Process for VPS26A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0015031 protein transport IEA --
GO:0016055 Wnt signaling pathway TAS --
GO:0016241 regulation of macroautophagy TAS 26172538
GO:0042147 retrograde transport, endosome to Golgi IBA,NAS 11102511
genes like me logo Genes that share ontologies with VPS26A: view

No data available for SIGNOR curated interactions for VPS26A Gene

Drugs & Compounds for VPS26A Gene

No Compound Related Data Available

Transcripts for VPS26A Gene

mRNA/cDNA for VPS26A Gene

5 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VPS26A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for VPS26A Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - - -
SP5:
SP6:

Relevant External Links for VPS26A Gene

GeneLoc Exon Structure for
VPS26A

Expression for VPS26A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VPS26A Gene

Protein differential expression in normal tissues from HIPED for VPS26A Gene

This gene is overexpressed in Nasopharynx (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VPS26A Gene



Protein tissue co-expression partners for VPS26A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VPS26A

SOURCE GeneReport for Unigene cluster for VPS26A Gene:

Hs.499925

Evidence on tissue expression from TISSUES for VPS26A Gene

  • Nervous system(4.9)
  • Intestine(4.3)
  • Liver(4.3)
  • Blood(4.2)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with VPS26A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for VPS26A Gene

Orthologs for VPS26A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VPS26A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VPS26A 31 30
  • 99.9 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VPS26A 31
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VPS26A 31
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VPS26A 31 30
  • 95.92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia VPS26A 31 30
  • 95.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Vps26a 17 31 30
  • 91.1 (n)
rat
(Rattus norvegicus)
Mammalia Vps26a 30
  • 90.72 (n)
chicken
(Gallus gallus)
Aves VPS26A 31 30
  • 86.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VPS26A 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vps26a 30
  • 79.86 (n)
Str.6997 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.5005 30
zebrafish
(Danio rerio)
Actinopterygii vps26a 31 30
  • 77.03 (n)
OneToOne
zgc56673 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.253 30
fruit fly
(Drosophila melanogaster)
Insecta Vps26 31
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vps-26 31
  • 47 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP8 33 31
  • 33 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons VPS26B 30
  • 58.87 (n)
soybean
(Glycine max)
eudicotyledons Gma.9189 30
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.4964 30
rice
(Oryza sativa)
Liliopsida Os11g0629200 30
  • 58.76 (n)
Os.21158 30
corn
(Zea mays)
Liliopsida Zm.5111 30
wheat
(Triticum aestivum)
Liliopsida Ta.1398 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2536 31
  • 59 (a)
OneToMany
Species where no ortholog for VPS26A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for VPS26A Gene

ENSEMBL:
Gene Tree for VPS26A (if available)
TreeFam:
Gene Tree for VPS26A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VPS26A: view image

Paralogs for VPS26A Gene

Paralogs for VPS26A Gene

(1) SIMAP similar genes for VPS26A Gene using alignment to 5 proteins:

  • VP26A_HUMAN
  • F5H4L7_HUMAN
  • G3V1N8_HUMAN
  • S4R2Y3_HUMAN
  • S4R3Q6_HUMAN

Pseudogenes.org Pseudogenes for VPS26A Gene

genes like me logo Genes that share paralogs with VPS26A: view

Variants for VPS26A Gene

Additional dbSNP identifiers (rs#s) for VPS26A Gene

Structural Variations from Database of Genomic Variants (DGV) for VPS26A Gene

Variant ID Type Subtype PubMed ID
esv3578969 CNV loss 25503493
nsv508589 CNV deletion 20534489
nsv7010 CNV deletion 18451855
nsv819970 CNV loss 19587683

Variation tolerance for VPS26A Gene

Residual Variation Intolerance Score: 37.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VPS26A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VPS26A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VPS26A Gene

Disorders for VPS26A Gene

MalaCards: The human disease database

(3) MalaCards diseases for VPS26A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ritscher-schinzel syndrome
  • craniocerebellocardiac dysplasia
alzheimer disease
  • ad
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for VPS26A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with VPS26A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VPS26A Gene

Publications for VPS26A Gene

  1. No association of vacuolar protein sorting 26 polymorphisms with Alzheimer's disease. (PMID: 16784798) Riemenschneider M … Förstl H (Neurobiology of aging 2007) 3 4 23 41 54
  2. The retromer subunit Vps26 has an arrestin fold and binds Vps35 through its C-terminal domain. (PMID: 16732284) Shi H … Hurley JH (Nature structural & molecular biology 2006) 2 3 4 23 54
  3. Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5. (PMID: 19531583) Seaman MN … Bright N (Journal of cell science 2009) 3 4 23 54
  4. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PMID: 9653160) Mao M … Chen Z (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 54
  5. Retriever is a multiprotein complex for retromer-independent endosomal cargo recycling. (PMID: 28892079) McNally KE … Cullen PJ (Nature cell biology 2017) 3 4 54

Products for VPS26A Gene

Sources for VPS26A Gene