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

    Gene ID: 146705, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 10.7), bone marrow (RPKM 9.4) and 25 other tissues See more
    Orthologs
    mouse all
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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

    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)

    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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