PACS1

Chr 11q13.1-q13.2

phosphofurin acidic cluster sorting protein 1

Aliases:: FLJ10209, KIAA1175
MANE:: ENST00000320580.9

OMIM: 607492 ↗NCBI: 55690 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PACS1 · Q6VY07

v62025-08-01

Predicted Aligned Error matrix for PACS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.8/ 100

Low

963 residues

Confidence breakdown

Very high(≥ 90)31%
Confident(70–90)17%
Low(50–70)9%
Very low(< 50)43%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Schuurs-Hoeijmakers syndrome
0.75
Intellectual disability - craniofacial dysmorphism - cryptorchidism
0.66
Intellectual disability
0.61
HIV infectious disease
0.50
hereditary disease
0.42
neurodevelopmental disorder
0.35
Global developmental delay
0.34
gout
0.19
neurodegenerative disease
0.15
bipolar I disorder
0.12

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

Protein function (UniProt)

Phosphofurin acidic cluster sorting protein 1

Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster-containing cytoplasmic domain of these molecules with the adapter-protein complex-1 (AP-1) of endosomal clathrin-coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN. Required for normal ER Ca2+ handling in lymphocytes. Together with WDR37, it plays an essential role in lymphocyte development, quiescence and survival. Required for stabilizing peripheral lymphocyte populations (By similarity)