JAKMIP1

Chr 4p16.1

janus kinase and microtubule interacting protein 1

Aliases:: MARLIN1, JAMIP1, Gababrbp, FLJ31564
MANE:: ENST00000409021.9

OMIM: 611195 ↗NCBI: 152789 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

JAKMIP1 · Q96N16

v62025-08-01

Predicted Aligned Error matrix for JAKMIP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.0/ 100

Confident

626 residues

Confidence breakdown

Very high(≥ 90)57%
Confident(70–90)19%
Low(50–70)8%
Very low(< 50)16%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Abnormality of the skeletal system
0.36
Smith-Magenis syndrome
0.34
Varicose veins
0.32
type 2 diabetes mellitus
0.30
neurodegenerative disease
0.26
Intellectual disability
0.26
septic shock
0.25
Seizure
0.23
ankylosing spondylitis
0.23
tooth disorder
0.22

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

Protein function (UniProt)

Janus kinase and microtubule-interacting protein 1

Associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B receptor. May play a role in JAK1 signaling and regulate microtubule cytoskeleton rearrangements