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Aliases for TEPSIN Gene

Aliases for TEPSIN Gene

  • TEPSIN, Adaptor Related Protein Complex 4 Accessory Protein 2 3 5
  • ENTH Domain-Containing Protein 2 3 4
  • ENTH Domain Containing 2 2 3
  • AP-4 Accessory Protein 2 3
  • Epsin For AP-4 3 4
  • Tetra-Epsin 3 4
  • C17orf56 3 4
  • ENTHD2 3 4
  • AP-4 Complex Accessory Subunit Tepsin 3
  • Chromosome 17 Open Reading Frame 56 2

External Ids for TEPSIN Gene

Previous HGNC Symbols for TEPSIN Gene

  • C17orf56
  • ENTHD2

Summaries for TEPSIN Gene

GeneCards Summary for TEPSIN Gene

TEPSIN (TEPSIN, Adaptor Related Protein Complex 4 Accessory Protein) is a Protein Coding gene. Diseases associated with TEPSIN include Cataract 8, Multiple Types.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TEPSIN Gene

Genomics for TEPSIN Gene

Regulatory Elements for TEPSIN Gene

Enhancers for TEPSIN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G082211 1.7 Ensembl ENCODE dbSUPER 23.6 -976.9 -976913 8.5 MLX CREB3L1 AGO1 ZFP64 DMAP1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ENSG00000262049 CCDC57 NARF-IT1 HGS TEPSIN ENSG00000262652 CEP131 ARL2BPP9 OGFOD3 ENSG00000265678
GH17G081839 1.6 Ensembl ENCODE dbSUPER 23.7 -602.9 -602888 4.0 FOXA2 ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 ZBTB7B ZNF143 ZNF207 ENSG00000262049 OGFOD3 HGS TEPSIN ALYREF NARF-IT1 ENSG00000262652 ARL2BPP9 RFNG ENSG00000265678
GH17G081033 2 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +199.3 199323 13.5 CREB3L1 MLX ZFP64 DMAP1 SLC30A9 ZNF143 ZNF263 SP3 NFYC MEF2D ENSG00000262049 EIF4A3 CHMP6 HGS ARL16 ACTG1 TEPSIN ARHGDIA ALYREF BAIAP2
GH17G081017 1.7 FANTOM5 ENCODE dbSUPER 12.4 +220.4 220428 2.9 PKNOX1 ATF1 ARID4B SIN3A ZNF2 ZNF48 ZNF121 ZNF766 GLIS2 ELK1 EIF4A3 HGS ACTG1 TEPSIN ENSG00000262049 ARHGDIA ALYREF SGSH CHMP6 ENSG00000262873
GH17G081294 1.3 ENCODE dbSUPER 15.8 -56.3 -56340 2.7 HDGF ARNT ZFP64 ARID4B SIN3A YY1 ZNF143 DEK SP3 SP5 SLC38A10 TEPSIN HGS ENSG00000262049 NDUFAF8 ALYREF ENSG00000265678 CHMP6 SIRT7 CCDC137
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TEPSIN on UCSC Golden Path with GeneCards custom track

Promoters for TEPSIN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000099362 -209 1801 PKNOX1 FOXA2 CREB3L1 AGO1 ARID4B SIN3A ZBTB7B YY1 ZNF143 FOS

Genomic Location for TEPSIN Gene

Chromosome:
17
Start:
81,228,277 bp from pter
End:
81,239,091 bp from pter
Size:
10,815 bases
Orientation:
Minus strand

Genomic View for TEPSIN Gene

Genes around TEPSIN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TEPSIN Gene

Proteins for TEPSIN Gene

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

    Protein Symbol:
    Q96N21-AP4AT_HUMAN
    Recommended name:
    AP-4 complex accessory subunit Tepsin
    Protein Accession:
    Q96N21
    Secondary Accessions:
    • Q6ZQU0
    • Q6ZSQ9

    Protein attributes for TEPSIN Gene

    Size:
    525 amino acids
    Molecular mass:
    55137 Da
    Quaternary structure:
    • Associates with the adapter-like complex 4 (AP-4). AP-4 is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1). Within this complex, may directly interact with AP4B1.

    Alternative splice isoforms for TEPSIN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TEPSIN Gene

Post-translational modifications for TEPSIN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TEPSIN Gene

Domains & Families for TEPSIN Gene

Protein Domains for TEPSIN Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TEPSIN: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for TEPSIN Gene

Function for TEPSIN Gene

genes like me logo Genes that share phenotypes with TEPSIN: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TEPSIN Gene

Localization for TEPSIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for TEPSIN Gene

Cytoplasm, cytosol. Cytoplasmic vesicle. Note=Extensively colocalizes with AP-4 in a punctate juxtanuclear pattern, which likely corresponds to trans-Golgi network. Requires a functional AP-4 complex for recruitment to vesicle membrane.

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 TEPSIN gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 4
mitochondrion 2
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for TEPSIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IEA --
GO:0016607 nuclear speck IDA --
GO:0031410 cytoplasmic vesicle IEA --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with TEPSIN: view

Pathways & Interactions for TEPSIN Gene

SuperPathways for TEPSIN Gene

No Data Available

Gene Ontology (GO) - Biological Process for TEPSIN Gene

None

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

Transcripts for TEPSIN Gene

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

No ASD Table

Relevant External Links for TEPSIN Gene

GeneLoc Exon Structure for
TEPSIN
ECgene alternative splicing isoforms for
TEPSIN

Expression for TEPSIN Gene

NURSA nuclear receptor signaling pathways regulating expression of TEPSIN Gene:

TEPSIN

Evidence on tissue expression from TISSUES for TEPSIN Gene

  • Nervous system(4.5)
No Expression Related Data Available

Primer Products

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TEPSIN Gene

Orthologs for TEPSIN Gene

This gene was present in the common ancestor of chordates.

Orthologs for TEPSIN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENTHD2 35 34
  • 98.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C19H17orf56 34
  • 76.52 (n)
ENTHD2 35
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENTHD2 34 35
  • 75.96 (n)
rat
(Rattus norvegicus)
Mammalia Enthd2 34
  • 75.76 (n)
mouse
(Mus musculus)
Mammalia Enthd2 34 35
  • 75.31 (n)
Tepsin 16
oppossum
(Monodelphis domestica)
Mammalia ENTHD2 35
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENTHD2 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves C17ORF56 34
  • 63.23 (n)
ENTHD2 35
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENTHD2 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enthd2 34
  • 53.51 (n)
zebrafish
(Danio rerio)
Actinopterygii enthd2 34 35
  • 53.95 (n)
Species where no ortholog for TEPSIN 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)
  • 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 TEPSIN Gene

ENSEMBL:
Gene Tree for TEPSIN (if available)
TreeFam:
Gene Tree for TEPSIN (if available)

Paralogs for TEPSIN Gene

No data available for Paralogs for TEPSIN Gene

Variants for TEPSIN Gene

Sequence variations from dbSNP and Humsavar for TEPSIN Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000044596 -- 81,235,321(+) CGCGC(A/G/T)TGGGG intron-variant
rs1000104182 -- 81,235,222(+) TCCTG(A/G)CCGCA intron-variant
rs1000200703 -- 81,239,782(+) AGCGC(C/T)TGCCG intron-variant, upstream-variant-2KB
rs1000688124 -- 81,238,509(+) AGGGG(A/C/T)TTACA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001065340 -- 81,230,213(+) GCATG(C/T)GCAGT intron-variant, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
dgv46n68 CNV loss 17160897
esv26223 CNV gain+loss 19812545
esv2716443 CNV deletion 23290073
esv2758707 CNV gain 17122850
nsv1064123 CNV gain 25217958
nsv1160499 CNV deletion 26073780
nsv2161 CNV insertion 18451855
nsv428351 CNV gain 18775914
nsv457971 CNV loss 19166990
nsv470619 CNV loss 18288195
nsv509677 CNV insertion 20534489
nsv576172 CNV loss 21841781
nsv828128 CNV loss 20364138
nsv952389 CNV deletion 24416366

Variation tolerance for TEPSIN Gene

Residual Variation Intolerance Score: 79.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.51; 55.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TEPSIN Gene

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

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

Disorders for TEPSIN Gene

MalaCards: The human disease database

(1) MalaCards diseases for TEPSIN Gene - From: DISEASES

Disorder Aliases PubMed IDs
cataract 8, multiple types
  • cataract 8 multiple types
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TEPSIN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TEPSIN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TEPSIN
genes like me logo Genes that share disorders with TEPSIN: view

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

Publications for TEPSIN Gene

  1. Multivariate proteomic profiling identifies novel accessory proteins of coated vesicles. (PMID: 22472443) Borner G.H. … Robinson M.S. (J. Cell Biol. 2012) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  4. Bivalent Motif-Ear Interactions Mediate the Association of the Accessory Protein Tepsin with the AP-4 Adaptor Complex. (PMID: 26542808) Mattera R. … Bonifacino J.S. (J. Biol. Chem. 2015) 3 64
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3 64

Products for TEPSIN Gene

Sources for TEPSIN Gene

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