PHETA1 (PH domain containing endocytic trafficking adaptor 1)

Gene

• Entrez ID: 144717
• Gene name: PH domain containing endocytic trafficking adaptor 1
• Gene symbol: PHETA1
• Synonyms (NCBI Gene): FAM109A, IPIP27A, SES1
• Chromosome: 12
• Chromosome location: 12q24.12
• Summary: 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)

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
GO:0005769	Component	Early endosome	IDA	21233288
GO:0005769	Component	Early endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005802	Component	Trans-Golgi network	IDA	21233288
GO:0005829	Component	Cytosol	IEA
GO:0007032	Process	Endosome organization	IBA
GO:0007032	Process	Endosome organization	IMP	21233288
GO:0030136	Component	Clathrin-coated vesicle	IDA	21233288
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IBA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IMP	21233288
GO:0042803	Function	Protein homodimerization activity	IPI	21233288
GO:0055037	Component	Recycling endosome	IBA
GO:0055037	Component	Recycling endosome	IDA	21233288
GO:0055037	Component	Recycling endosome	IEA

Other IDs

• MIM: 614239
• HGNC: 26509
• e!Ensembl: ENSG00000198324

Protein

• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15389760		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	25944804		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	25944804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dent Disease	Dent disease	Pubtator	21233288	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	30067536		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	PSYGENET_DG	15389760		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	20133602, 21233288		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	21233288	Associate	★☆☆☆☆ Found in Text Mining only