Aliases for ENTR1 Gene

Aliases for ENTR1 Gene

  • Endosome Associated Trafficking Regulator 1 2 3 5
  • Serologically Defined Colon Cancer Antigen 3 2 3 4
  • Endosome-Associated-Trafficking Regulator 1 3 4
  • Antigen NY-CO-3 3 4
  • SDCCAG3 3 4
  • NY-CO-3 3

External Ids for ENTR1 Gene

Previous HGNC Symbols for ENTR1 Gene

  • SDCCAG3

Summaries for ENTR1 Gene

GeneCards Summary for ENTR1 Gene

ENTR1 (Endosome Associated Trafficking Regulator 1) is a Protein Coding gene. Diseases associated with ENTR1 include Spinocerebellar Ataxia, Autosomal Recessive 2.

UniProtKB/Swiss-Prot Summary for ENTR1 Gene

  • Endosome-associated protein that plays a role in membrane receptor sorting, cytokinesis and ciliogenesis (PubMed:23108400, PubMed:25278552, PubMed:27767179). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). Involved in the regulation of cytokinesis; the function may involve PTPN13 and GIT1 (PubMed:23108400). Plays a role in the formation of cilia (PubMed:27767179). Involved in cargo protein localization, such as PKD2, at primary cilia (PubMed:27767179). Involved in the presentation of the tumor necrosis factor (TNF) receptor TNFRSF1A on the cell surface, and hence in the modulation of the TNF-induced apoptosis (By similarity).

Additional gene information for ENTR1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENTR1 Gene

Genomics for ENTR1 Gene

GeneHancer (GH) Regulatory Elements for ENTR1 Gene

Promoters and enhancers for ENTR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J136408 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 772.9 +0.2 161 3.6 ZNF785 SIN3A SP1 ZBTB40 MLX RBPJ POLR2A USF2 HDAC2 ATF1 ENTR1 PMPCA piR-43062 piR-37148 INPP5E DNLZ SEC16A SNAPC4 SNHG7 GPSM1
GH09J136403 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 750.4 +6.4 6388 2.9 POLR2A ETV6 RELA NKRF MLLT1 ZNF687 CREM ZBED1 IKZF1 ZIC2 lnc-SNAPC4-1 piR-46328-002 piR-48360 ENTR1 DNLZ INPP5E SNAPC4 SEC16A CARD9 GPSM1
GH09J137233 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 89.4 -828.6 -828596 11.7 ZNF785 SIN3A ZNF24 ZBTB40 SP1 CTCF SREBF1 ZBTB6 MLX RBPJ TUBB4B EHMT1 ENTR1 ANAPC2 DPH7 INPP5E SNHG7 NDOR1 ENSG00000255585 SEC16A
GH09J136942 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 50.3 -536.8 -536847 10.6 GTF3C2 ZNF785 ZBTB40 SP1 CTCF SREBF1 FOXA1 RBPJ SMARCE1 POLR2A LCN12 C8G FBXW5 HSALNG0075325 EHMT1 ENTR1 ANAPC2 DPH7 ENSG00000255585 MAN1B1
GH09J137292 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 44.5 -889.8 -889840 15.4 ZNF785 SP1 ZBTB40 CTCF SREBF1 SIX5 ZBTB6 POLR2A CTBP1 USF2 NRARP EHMT1 DPH7 INPP5E ENTR1 ANAPC2 EXD3 MAN1B1 SNHG7 SEC16A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENTR1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ENTR1 Gene

Genomic Locations for ENTR1 Gene
chr9:136,401,922-136,410,614
(GRCh38/hg38)
Size:
8,693 bases
Orientation:
Minus strand
chr9:139,296,374-139,305,061
(GRCh37/hg19)
Size:
8,688 bases
Orientation:
Minus strand

Genomic View for ENTR1 Gene

Genes around ENTR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENTR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENTR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENTR1 Gene

Proteins for ENTR1 Gene

  • Protein details for ENTR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96C92-ENTR1_HUMAN
    Recommended name:
    Endosome-associated-trafficking regulator 1
    Protein Accession:
    Q96C92
    Secondary Accessions:
    • A6NCP1
    • O60525
    • Q5SXN1
    • Q5SXN2
    • Q5SXN3
    • Q5SXN4
    • Q5SXN8
    • Q6V704
    • Q9NVY5

    Protein attributes for ENTR1 Gene

    Size:
    435 amino acids
    Molecular mass:
    47961 Da
    Quaternary structure:
    • Found in a complex with ENTR1, PTPN13 and GIT1 (PubMed:23108400). Interacts with PTPN13 (via the FERM domain) (PubMed:23108400). Interacts (via N-terminus) with GIT1 (via N- and C-terminus); this interaction is direct (PubMed:23108400). Interacts with NOD2 (PubMed:27812135). Interacts (via N-terminus) with IFT88 (PubMed:27767179). Interacts with VPS35 (PubMed:25278552).
    SequenceCaution:
    • Sequence=BAA91607.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ENTR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENTR1 Gene

Post-translational modifications for ENTR1 Gene

No data available for DME Specific Peptides for ENTR1 Gene

Domains & Families for ENTR1 Gene

Gene Families for ENTR1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ENTR1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ENTR1 Gene

GenScript: Design optimal peptide antigens:
  • Antigen NY-CO-3 (SDCG3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96C92

UniProtKB/Swiss-Prot:

ENTR1_HUMAN :
  • Tne N-terminal domain is necessary and sufficient for basal body localization and ciliogenesis.
  • Belongs to the ENTR1 family.
Domain:
  • Tne N-terminal domain is necessary and sufficient for basal body localization and ciliogenesis.
Family:
  • Belongs to the ENTR1 family.
genes like me logo Genes that share domains with ENTR1: view

Function for ENTR1 Gene

Molecular function for ENTR1 Gene

UniProtKB/Swiss-Prot Function:
Endosome-associated protein that plays a role in membrane receptor sorting, cytokinesis and ciliogenesis (PubMed:23108400, PubMed:25278552, PubMed:27767179). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). Involved in the regulation of cytokinesis; the function may involve PTPN13 and GIT1 (PubMed:23108400). Plays a role in the formation of cilia (PubMed:27767179). Involved in cargo protein localization, such as PKD2, at primary cilia (PubMed:27767179). Involved in the presentation of the tumor necrosis factor (TNF) receptor TNFRSF1A on the cell surface, and hence in the modulation of the TNF-induced apoptosis (By similarity).

Phenotypes From GWAS Catalog for ENTR1 Gene

Gene Ontology (GO) - Molecular Function for ENTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23108400
genes like me logo Genes that share ontologies with ENTR1: view
genes like me logo Genes that share phenotypes with ENTR1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ENTR1 Gene

Localization for ENTR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENTR1 Gene

Cytoplasm. Early endosome. Endosome. Recycling endosome. Midbody. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Note=Colocalizes in a WASHC2-dependent manner with the retromer CSC complex at endosomes (PubMed:25278552). During cytokinesis colocalized with PTPN13 at the midbody (PubMed:23108400). Colocalizes with IFT88 and gamma-tubulin at the basal body of primary cilia (PubMed:27767179). Colocalizes with IFT88 and pericentrin at the centrosome (PubMed:27767179). {ECO:0000269 PubMed:23108400, ECO:0000269 PubMed:25278552, ECO:0000269 PubMed:27767179}.

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 ENTR1 gene
Compartment Confidence
cytoskeleton 5
endosome 5
mitochondrion 2
cytosol 1
nucleus 0

Gene Ontology (GO) - Cellular Components for ENTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IDA,IEA 25278552
GO:0005769 early endosome IEA,IDA 23108400
GO:0005813 centrosome IDA 27767179
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with ENTR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ENTR1 Gene

Pathways & Interactions for ENTR1 Gene

PathCards logo

SuperPathways for ENTR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ENTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0015031 protein transport IEA --
GO:0030030 cell projection organization IEA --
GO:0032465 regulation of cytokinesis IDA 23108400
GO:0045724 positive regulation of cilium assembly IMP 27767179
genes like me logo Genes that share ontologies with ENTR1: view

No data available for Pathways by source and SIGNOR curated interactions for ENTR1 Gene

Drugs & Compounds for ENTR1 Gene

No Compound Related Data Available

Transcripts for ENTR1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ENTR1 Gene

No ASD Table

Relevant External Links for ENTR1 Gene

GeneLoc Exon Structure for
ENTR1
ECgene alternative splicing isoforms for
ENTR1

Expression for ENTR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ENTR1 Gene:

ENTR1

mRNA Expression by UniProt/SwissProt for ENTR1 Gene:

Q96C92-ENTR1_HUMAN
Tissue specificity: Expressed in the colon (at protein level).

Evidence on tissue expression from TISSUES for ENTR1 Gene

  • Skin(4.4)
  • Liver(4.2)
  • Nervous system(2.2)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENTR1 Gene

Orthologs for ENTR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ENTR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SDCCAG3 33 32
  • 98.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SDCCAG3 33 32
  • 85.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SDCCAG3 33 32
  • 84.57 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sdccag3 32
  • 82.71 (n)
mouse
(Mus musculus)
Mammalia Sdccag3 33 32
  • 81.54 (n)
OneToOne
Entr1 17
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 67 (a)
OneToMany
-- 33
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SDCCAG3 33
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves SDCCAG3 33
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sdccag3 32
  • 54.73 (n)
Str.604 32
zebrafish
(Danio rerio)
Actinopterygii sdccag3 33
  • 32 (a)
OneToOne
Species where no ortholog for ENTR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ENTR1 Gene

ENSEMBL:
Gene Tree for ENTR1 (if available)
TreeFam:
Gene Tree for ENTR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ENTR1: view image

Paralogs for ENTR1 Gene

Pseudogenes.org Pseudogenes for ENTR1 Gene

genes like me logo Genes that share paralogs with ENTR1: view

No data available for Paralogs for ENTR1 Gene

Variants for ENTR1 Gene

Sequence variations from dbSNP and Humsavar for ENTR1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1057519454 pathogenic, Spinocerebellar ataxia, autosomal recessive 2 136,410,732(-) C/T upstream_transcript_variant
rs869025292 pathogenic, Spinocerebellar ataxia, autosomal recessive 2 136,412,502(-) C/T upstream_transcript_variant
rs1000280431 -- 136,412,300(-) C/A upstream_transcript_variant
rs1000479449 -- 136,412,286(-) A/G upstream_transcript_variant
rs1000840705 -- 136,408,835(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ENTR1 Gene

Variant ID Type Subtype PubMed ID
esv2661983 CNV deletion 23128226
esv2739359 CNV deletion 23290073
esv2739360 CNV deletion 23290073
esv2759720 CNV loss 17122850
nsv1147587 CNV deletion 26484159
nsv469918 CNV loss 18288195
nsv509333 CNV insertion 20534489
nsv615963 CNV loss 21841781
nsv825173 CNV gain 20364138
nsv825174 CNV gain 20364138
nsv831760 CNV loss 17160897
nsv951202 CNV deletion 24416366

Variation tolerance for ENTR1 Gene

Residual Variation Intolerance Score: 75.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.84; 83.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENTR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENTR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENTR1 Gene

Disorders for ENTR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENTR1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 2
  • scar2
- elite association - COSMIC cancer census association via MalaCards
Search ENTR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ENTR1

genes like me logo Genes that share disorders with ENTR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENTR1 Gene

Publications for ENTR1 Gene

  1. Characterization of human colon cancer antigens recognized by autologous antibodies. (PMID: 9610721) Scanlan MJ … Old LJ (International journal of cancer 1998) 2 3 4 56
  2. Characterization and Genetic Analyses of New Genes Coding for NOD2 Interacting Proteins. (PMID: 27812135) Thiébaut R … Ollendorff V (PloS one 2016) 3 4 56
  3. The serologically defined colon cancer antigen-3 (SDCCAG3) is involved in the regulation of ciliogenesis. (PMID: 27767179) Yu F … Erdmann KS (Scientific reports 2016) 3 4 56
  4. Identification of molecular heterogeneity in SNX27-retromer-mediated endosome-to-plasma-membrane recycling. (PMID: 25278552) McGough IJ … Cullen PJ (Journal of cell science 2014) 3 4 56
  5. The serologically defined colon cancer antigen-3 interacts with the protein tyrosine phosphatase PTPN13 and is involved in the regulation of cytokinesis. (PMID: 23108400) Hagemann N … Erdmann KS (Oncogene 2013) 3 4 56

Products for ENTR1 Gene

Sources for ENTR1 Gene