TEPSIN (TEPSIN adaptor related protein complex 4 accessory protein)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
146705
Gene name Gene Name - the full gene name approved by the HGNC.
TEPSIN adaptor related protein complex 4 accessory protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TEPSIN
Synonyms (NCBI Gene) Gene synonyms aliases
C17orf56, ENTHD2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22472443, 26542808, 26756312, 32296183
GO:0005737 Component Cytoplasm IDA 22472443, 26542808
GO:0005794 Component Golgi apparatus IDA
GO:0005829 Component Cytosol IEA
GO:0016607 Component Nuclear speck IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96N21
Protein name AP-4 complex accessory subunit Tepsin (ENTH domain-containing protein 2) (Epsin for AP-4) (Tetra-epsin)
Protein function Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network.
PDB 5WF9 , 5WFB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01417 ENTH 20 → 137 ENTH domain Domain
Sequence 
MAAAPPLRDRLSFLHRLPILLKGTSDDDVPCPGYLFEEIAKISHESPGSSQCLLEYLLSR
LHSSSGHGKLKVLKILLYLCSHGSSFFLLILKRNSAFIQEAAAFAGPPDPLHGNSLYQKV
RAAAQDLGSTLFSDTVLPLAPSQPLGTPPATGMGSQARPHSTLQGFGYSKEHGRTAVRHQ
PGQAGGGWDELDSGPSSQNSSQNSDLSRVSDSGSHSGSDSHSGASREPGDLAERVEVVAL
SDCQQELSLVRTVTRGPRAFLSREEAQHFIKACGLLNCEAVLQLLTCHLRGTSECTQLRA
LCAIASLGSSDLLPQEHILLRTRPWLQELSMGSPGPVTNKATKILRHFEASCGQLSPARG
TSAEPGPTAALPGPSDLLTDAVPLPGSQVFLQPLSSTPVSSRSPAPSSGMPSSPVPTPPP
DASPIPAPGDPSEAEARLAESRRWRPERIPGGTDSPKRGPSSCAWSRDSLFAGMELVACP
RLVGAGAAAGESCPDAPRAPQTSSQRTAAKEPPGSEPSAFAFLNA
Sequence length 525
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Frontotemporal dementia Frontotemporal dementia rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092
View all (31 more)		 26154020