HID1

Chr 17q25.1

HID1 domain containing

Aliases:: DMC1, HID-1
MANE:: ENST00000425042.7

OMIM: 605752 ↗NCBI: 283987 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

HID1 · Q8IV36

v62025-08-01

Predicted Aligned Error matrix for HID1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.3/ 100

Confident

788 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)21%
Low(50–70)5%
Very low(< 50)10%

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
Pituitary hormone deficiency
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

developmental and epileptic encephalopathy 105 with hypopituitarism
0.71
hypopituitarism
0.51
hereditary disease
0.33
septic shock
0.18
appendicitis
0.09
disorder of appendix
0.09
breast cancer
0.06
Barrett esophagus
0.05
esophageal adenocarcinoma
0.03
non-small cell lung carcinoma
0.02

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

Protein function (UniProt)

Protein HID1

Plays a role in the biogenesis of large dense core vesicles (LDCVs) at the trans-Golgi network; necessary for the proper sorting of cargo into LDCVs and is required for proper regulated exocytosis (also known as regulated secretory pathway)