HID1
HID1 Domain-Containing Protein
Gene Information Card
| Symbol | HID1 |
|---|---|
| Full Name | HID1 Domain-Containing Protein |
| Gene Type | Protein-coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 283987 ncbi.nlm.nih.gov/gene/283987 |
| Ensembl ID | ENSG00000167850 |
| UniProt ID | Q8IV36 |
| OMIM ID | 617684 |
| HGNC ID | 15736 |
| Aliases | DMC1, HID-1, FLJ12787, MGC138290 |
Description
HID1 (HID1 domain-containing protein) is a protein-coding gene located on chromosome 17q25.1. The encoded protein is involved in intracellular trafficking and secretion, particularly in the regulation of dense-core vesicle maturation and exocytosis. HID1 is conserved across species and plays a role in neuronal and endocrine cell function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss of HID1 function impairs vesicle trafficking leading to neuronal dysfunction | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in HID1 associated with ASD risk | ClinVar |
| Intellectual disability | Homozygous loss-of-function mutations cause syndromic ID | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Adrenal gland | 7.1 | Low |
| Thyroid | 6.8 | Low |
| Lung | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuronal cell line |
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
| HepG2 | 7.8 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Missense, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Membrane Trafficking (Reactome: R-HSA-199991)
Protein Summary
The HID1 protein is a 746-amino acid polypeptide with a conserved HID1 domain. It localizes to the Golgi apparatus and perinuclear region, where it regulates the maturation and exocytosis of dense-core vesicles. HID1 is essential for proper secretion of hormones and neuropeptides, and its dysfunction is linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HID1 Knockout HEK293 Cell Line | EDJ-KQ13749 | Human | 283987 | Details Get a Quote |
| HID1 Knockout A-549 Cell Line | EDJ-KQ42259 | Human | 283987 | Details Get a Quote |
| HID1 Knockout HCT 116 Cell Line | EDJ-KQ43519 | Human | 283987 | Details Get a Quote |
| HID1 Knockout HeLa Cell Line | EDJ-KQ59425 | Human | 283987 | Details Get a Quote |
