PHETA1 (PH domain containing endocytic trafficking adaptor 1)

2018-11-01  

Identity

HGNC
PHETA1
LOCATION
12q24.12
LOCUSID
144717
ALIAS
FAM109A,IPIP27A,SES1

Other Information

Locus ID:

NCBI: 144717
MIM: 614239
HGNC: 26509
Ensembl: ENSG00000198324

Variants:

dbSNP: 144717
ClinVar: 144717
TCGA: ENSG00000198324
COSMIC: PHETA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198324ENST00000361483Q8N4B1
ENSG00000198324ENST00000547710F8VZK7
ENSG00000198324ENST00000547838Q8N4B1
ENSG00000198324ENST00000548163Q8N4B1
ENSG00000198324ENST00000549321F8W0V2

References

Pubmed IDYearTitleCitations
321520892020Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.4
321520892020Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.4
212332882011The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.38
212332882011The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.38
201336022010Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.35
201336022010Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.35

Citation

Dessen P

PHETA1 (PH domain containing endocytic trafficking adaptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80560/new-content/