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

Summary

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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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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)

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
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

81228277..81239055 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
XM_047435391.1 → XP_047291347.1 AP-4 complex accessory subunit tepsin isoform X5
XM_047435390.1 → XP_047291346.1 AP-4 complex accessory subunit tepsin isoform X4
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 ...
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 ...
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 ...
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 ...
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

NC_060941.1 Alternate T2T-CHM13v2.0

Range

82137400..82148206 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315115.1 → XP_054171090.1 AP-4 complex accessory subunit tepsin isoform X2
XM_054315116.1 → XP_054171091.1 AP-4 complex accessory subunit tepsin isoform X3
XM_054315114.1 → XP_054171089.1 AP-4 complex accessory subunit tepsin isoform X1
XM_054315117.1 → XP_054171092.1 AP-4 complex accessory subunit tepsin isoform X4
XM_054315119.1 → XP_054171094.1 AP-4 complex accessory subunit tepsin isoform X6
XM_054315118.1 → XP_054171093.1 AP-4 complex accessory subunit tepsin isoform X5
XM_054315120.1 → XP_054171095.1 AP-4 complex accessory subunit tepsin isoform X7
XM_054315121.1 → XP_054171096.1 AP-4 complex accessory subunit tepsin isoform X7