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TEPSIN TEPSIN adaptor related protein complex 4 accessory protein [ Homo sapiens (human) ]

Gene ID: 146705, updated on 2-Nov-2024

Summary

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Official Symbol
TEPSINprovided by HGNC
Official Full Name
TEPSIN adaptor related protein complex 4 accessory proteinprovided by HGNC
Primary source
HGNC:HGNC:26458
See related
Ensembl:ENSG00000167302 AllianceGenome:HGNC:26458
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ENTHD2; C17orf56
Summary
Located in coated vesicle membrane and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in spleen (RPKM 10.7), bone marrow (RPKM 9.4) and 25 other tissues See more
Orthologs
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Genomic context

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See TEPSIN in Genome Data Viewer
Location:
17q25.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81228277..81239055, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82137400..82148206, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79202077..79212855, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene apoptosis associated tyrosine kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79138819-79139562 Neighboring gene parvalbumin like EF-hand containing Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79161487-79162058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79166719-79167436 Neighboring gene centrosomal protein 131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79195126-79195796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79195797-79196466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79196467-79197136 Neighboring gene uncharacterized LOC105371925 Neighboring gene uncharacterized LOC124904081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79212179-79212761 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79212737-79212952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12956 Neighboring gene Sharpr-MPRA regulatory region 11657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12959 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79225481-79226148 Neighboring gene solute carrier family 38 member 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79228507-79229198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79255689-79256202 Neighboring gene Sharpr-MPRA regulatory region 13761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9123

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Molecular Basis for the Interaction Between AP4 β4 and its Accessory Protein, Tepsin. Frazier MN, et al. Traffic, 2016 Apr. PMID 26756312, Free PMC Article
  2. Bivalent Motif-Ear Interactions Mediate the Association of the Accessory Protein Tepsin with the AP-4 Adaptor Complex. Mattera R, et al. J Biol Chem, 2015 Dec 25. PMID 26542808, Free PMC Article
  3. Multivariate proteomic profiling identifies novel accessory proteins of coated vesicles. Borner GH, et al. J Cell Biol, 2012 Apr 2. PMID 22472443, Free PMC Article
  4. The FTS-Hook-FHIP (FHF) complex interacts with AP-4 to mediate perinuclear distribution of AP-4 and its cargo ATG9A. Mattera R, et al. Mol Biol Cell, 2020 Apr 15. PMID 32073997, Free PMC Article
  5. A human RNA polymerase II complex containing factors that modify chromatin structure. Cho H, et al. Mol Cell Biol, 1998 Sep. PMID 9710619, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The bivalency of the interactions contributes to a higher avidity of tepsin for AP-4.
    Title: Bivalent Motif-Ear Interactions Mediate the Association of the Accessory Protein Tepsin with the AP-4 Adaptor Complex.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • FLJ31528, DKFZp451M1616

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in coated vesicle membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in organelle membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in trans-Golgi network membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in trans-Golgi network membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
AP-4 complex accessory subunit tepsin
Names
AP-4 accessory protein
ENTH domain containing 2
ENTH domain-containing protein 2
epsin for AP-4
tetra-epsin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001363764.2 → NP_001350693.1  AP-4 complex accessory subunit tepsin isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC027601
    Consensus CDS
    CCDS86648.1
    UniProtKB/TrEMBL
    A0A1B0GV70
    Related
    ENSP00000490393.1, ENST00000637944.2
    Conserved Domains (2) summary
    cd03572
    Location:15 → 136
    ENTH_epsin_related; ENTH domain, Epsin Related family; composed of hypothetical proteins containing an ENTH-like domain. The epsin N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in ...
    cl28033
    Location:425 → 586
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

  2. NM_144679.3 → NP_653280.1  AP-4 complex accessory subunit tepsin isoform 2

    See identical proteins and their annotated locations for NP_653280.1

    Status: VALIDATED

    Source sequence(s)
    AC027601, AK056090, BC037231
    Consensus CDS
    CCDS11779.1
    UniProtKB/Swiss-Prot
    Q6ZQU0, Q6ZSQ9, Q96N21
    Related
    ENSP00000300714.3, ENST00000300714.7
    Conserved Domains (2) summary
    cd03572
    Location:15 → 136
    ENTH_epsin_related; ENTH domain, Epsin Related family; composed of hypothetical proteins containing an ENTH-like domain. The epsin N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in ...
    cl28033
    Location:357 → 518
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    81228277..81239055 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721709.4 → XP_006721772.1  AP-4 complex accessory subunit tepsin isoform X6

    Conserved Domains (1) summary
    cd03572
    Location:15 → 138
    ENTH_epsin_related; ENTH domain, Epsin Related family; composed of hypothetical proteins containing an ENTH-like domain. The epsin N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in ...

  2. XM_047435391.1 → XP_047291347.1  AP-4 complex accessory subunit tepsin isoform X5

  3. XM_047435390.1 → XP_047291346.1  AP-4 complex accessory subunit tepsin isoform X4

  4. XM_005257066.2 → XP_005257123.1  AP-4 complex accessory subunit tepsin isoform X2

    Conserved Domains (1) summary
    cd03572
    Location:227 → 346
    ENTH_epsin_related; ENTH domain, Epsin Related family; composed of hypothetical proteins containing an ENTH-like domain. The epsin N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in ...

  5. XM_011524356.1 → XP_011522658.1  AP-4 complex accessory subunit tepsin isoform X3

    Conserved Domains (1) summary
    cd03572
    Location:227 → 348
    ENTH_epsin_related; ENTH domain, Epsin Related family; composed of hypothetical proteins containing an ENTH-like domain. The epsin N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in ...

  6. XM_011524355.1 → XP_011522657.1  AP-4 complex accessory subunit tepsin isoform X1

    Conserved Domains (1) summary
    cd03572
    Location:227 → 348
    ENTH_epsin_related; ENTH domain, Epsin Related family; composed of hypothetical proteins containing an ENTH-like domain. The epsin N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in ...

  7. XM_017024204.3 → XP_016879693.1  AP-4 complex accessory subunit tepsin isoform X7

    Conserved Domains (1) summary
    cd03572
    Location:9 → 131
    ENTH_epsin_related; ENTH domain, Epsin Related family; composed of hypothetical proteins containing an ENTH-like domain. The epsin N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in ...

  8. XM_011524357.2 → XP_011522659.1  AP-4 complex accessory subunit tepsin isoform X7

    See identical proteins and their annotated locations for XP_011522659.1

    Conserved Domains (1) summary
    cd03572
    Location:9 → 131
    ENTH_epsin_related; ENTH domain, Epsin Related family; composed of hypothetical proteins containing an ENTH-like domain. The epsin N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    82137400..82148206 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315115.1 → XP_054171090.1  AP-4 complex accessory subunit tepsin isoform X2

  2. XM_054315116.1 → XP_054171091.1  AP-4 complex accessory subunit tepsin isoform X3

  3. XM_054315114.1 → XP_054171089.1  AP-4 complex accessory subunit tepsin isoform X1

  4. XM_054315117.1 → XP_054171092.1  AP-4 complex accessory subunit tepsin isoform X4

  5. XM_054315119.1 → XP_054171094.1  AP-4 complex accessory subunit tepsin isoform X6

  6. XM_054315118.1 → XP_054171093.1  AP-4 complex accessory subunit tepsin isoform X5

  7. XM_054315120.1 → XP_054171095.1  AP-4 complex accessory subunit tepsin isoform X7

  8. XM_054315121.1 → XP_054171096.1  AP-4 complex accessory subunit tepsin isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96N21.1 GenPept UniProtKB/Swiss-Prot:Q96N21

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