YIPF5

Chr 5q31.3

Yip1 domain family member 5

Aliases:: SMAP-5, FinGER5, Yip1a, YIPFalpha1A
MANE:: ENST00000274496.10

OMIM: 611483 ↗NCBI: 81555 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

YIPF5 · Q969M3

v62025-08-01

Predicted Aligned Error matrix for YIPF5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.6/ 100

Low

257 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)31%
Low(50–70)16%
Very low(< 50)33%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

microcephaly, epilepsy, and diabetes syndrome 2
0.65
microcephaly, epilepsy, and diabetes syndrome 1
0.50
Abnormality of refraction
0.29
neurodegenerative disease
0.29
non-autoimmune hemolytic anemia
0.20
gastritis
0.17
oral cavity carcinoma
0.15
cardiomyopathy
0.15
heart failure
0.15
Kidney Cyst
0.11

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

Protein function (UniProt)

Protein YIPF5

Plays a role in transport between endoplasmic reticulum and Golgi. In pancreatic beta cells, required to transport proinsulin from endoplasmic reticulum into the Golgi (PubMed:33164986)