PHETA1 (PH domain containing endocytic trafficking adaptor 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
144717
Gene name Gene Name - the full gene name approved by the HGNC.
PH domain containing endocytic trafficking adaptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PHETA1
Synonyms (NCBI Gene) Gene synonyms aliases
FAM109A, IPIP27A, SES1
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
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(22)
GO ID Ontology Definition Evidence Reference
GO:0001881 Process Receptor recycling IBA
GO:0001881 Process Receptor recycling IMP 21233288
GO:0005515 Function Protein binding IPI 21233288, 21900206, 25107275, 28514442, 32296183, 33961781, 35271311
GO:0005768 Component Endosome IEA
GO:0005769 Component Early endosome IBA
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
614239 26509 ENSG00000198324
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N4B1
Protein name Sesquipedalian-1 (Ses1) (27 kDa inositol polyphosphate phosphatase-interacting protein A) (IPIP27A) (PH domain-containing endocytic trafficking adaptor 1)
Protein function Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.
PDB 3QIS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 18 → 113 PH domain Domain
Sequence 
MKLNERSLAFYATCDAPVDNAGFLYKKGGRHAAYHRRWFVLRGNMLFYFEDAASREPVGV
IILEGCTVELVEAAEEFAFAVRFAGTRARTYVLAAESQDAMEGWVKALSRASFDYLRLVV
RELEQQLAAVRGGGGMALPQPQPQSLPLPPSLPSALAPVPSLPSAPAPVPALPLPRRPSA
LPPKENGCAVWSTEATFRPGPEPPPPPPRRRASAPHGPLDMAPFARLHECYGQEIRALRG
QWLSSRVQP
Sequence length 249
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypertension Hypertension N/A N/A GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Dent Disease Associate 21233288
Oculocerebrorenal Syndrome Associate 21233288