MAB21L1

Chr 13q13.3

mab-21 like 1

Aliases:: CAGR1
MANE:: ENST00000379919.6

OMIM: 601280 ↗NCBI: 4081 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MAB21L1 · Q13394

v62025-08-01

Predicted Aligned Error matrix for MAB21L1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.9/ 100

Very high

359 residues

Confidence breakdown

Very high(≥ 90)86%
Confident(70–90)11%
Low(50–70)3%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Corneal dystrophy
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

cerebellar, ocular, craniofacial, and genital syndrome
0.70
Intellectual disability
0.37
Global developmental delay
0.37
Abnormality of the genital system
0.37
Abnormality of the eye
0.37
Cerebellar hypoplasia
0.37
esophageal disorder
0.29
alcohol drinking
0.29
osteoarthritis, knee
0.23
medical procedure
0.23

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

Protein function (UniProt)

Putative nucleotidyltransferase MAB21L1

Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (PubMed:27103078, PubMed:30487245). It is unclear whether it displays nucleotidyltransferase activity in vivo (PubMed:27271801). Binds single-stranded RNA (ssRNA) (PubMed:27271801)