EIPR1

Chr 2p25.3

EARP complex and GARP complex interacting protein 1

Aliases:: EIPR-1
MANE:: ENST00000382125.9

OMIM: 608998 ↗NCBI: 7260 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

EIPR1 · Q53HC9

v62025-08-01

Predicted Aligned Error matrix for EIPR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.1/ 100

Confident

387 residues

Confidence breakdown

Very high(≥ 90)79%
Confident(70–90)10%
Low(50–70)4%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

diabetes mellitus
0.27
angina pectoris
0.26
disorder of ear
0.26
cervical carcinoma
0.26
enteritis
0.26
dyshidrosis
0.26
sinoatrial node disorder
0.24
neurodevelopmental disorder
0.23
smoking initiation
0.20
insomnia
0.17

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

EARP and GARP complex-interacting protein 1

Acts as a component of endosomal retrieval machinery that is involved in protein transport from early endosomes to either recycling endosomes or the trans-Golgi network (PubMed:27440922). Mediates the recruitment of Golgi-associated retrograde protein (GARP) complex to the trans-Golgi network and controls early endosome-to-Golgi transport of internalized protein (PubMed:27440922). Promotes the recycling of internalized transferrin receptor (TFRC) to the plasma membrane through interaction with endosome-associated recycling protein (EARP) complex (PubMed:27440922). Controls proper insulin distribution and secretion, and retention of cargo in mature dense core vesicles (By similarity). Required for the stability of the endosome-associated retrograde protein (EARP) complex subunits and for proper localization and association of EARP with membranes (By similarity)