GHITM (Growth Hormone Inducible Transmembrane Protein)
A mitochondrial inner membrane protein involved in apoptosis and mitochondrial morphology.
Gene Information Card
| Symbol | GHITM |
|---|---|
| Full Name | Growth Hormone Inducible Transmembrane Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.1 |
| NCBI Gene ID | 27069 ncbi.nlm.nih.gov/gene/27069 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q9H3K2 |
| OMIM ID | 618518 |
| HGNC ID | 17281 |
| Aliases | DAP1, MOTS, My021, HSPC282, PTD016 |
Description
GHITM encodes a growth hormone-inducible transmembrane protein that localizes to the inner mitochondrial membrane. It plays a role in maintaining mitochondrial cristae morphology, regulating apoptosis, and modulating mitochondrial calcium uptake. The protein is widely expressed and has been implicated in cancer cell survival and neurodegenerative processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | GHITM overexpression may promote resistance to apoptosis by stabilizing mitochondrial membrane potential. | COSMIC; PMID: 25691885 |
| Neurodegeneration | Altered GHITM expression affects mitochondrial dynamics and calcium homeostasis, contributing to neuronal cell death. | UniProt; PMID: 29127155 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 18.3 | Medium |
| Liver | 8.7 | Low |
| Kidney | 15.2 | Medium |
| Testis | 22.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cells |
| K562 | 9.8 | Leukemia cell line |
| MCF7 | 16.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Potential loss of function; observed in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Missense variants may disrupt mitochondrial targeting or membrane insertion, impairing cristae maintenance.
Gain of Function (GOF)
Not well characterized; overexpression in tumors suggests possible gain-of-function in apoptosis resistance.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial inner membrane | • Protein homodimerization activity |
| • Apoptotic process | • Mitochondrial cristae organization |
| • Calcium ion transport |
Pathways
• Apoptosis (KEGG hsa04210)
• Mitochondrial calcium regulation (Reactome R-HSA-8949215)
Protein Summary
GHITM is a 219-amino acid protein with two transmembrane domains, embedded in the inner mitochondrial membrane. It forms homodimers and interacts with the mitochondrial calcium uniporter complex. The protein is essential for maintaining cristae structure and regulating apoptosis through modulation of cytochrome c release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GHITM Knockout HEK293 Cell Line | EDJ-KQ8664 | Human | 27069 | Details Get a Quote |
| GHITM Knockout A-549 Cell Line | EDJ-KQ34839 | Human | 27069 | Details Get a Quote |
| GHITM Knockout HCT 116 Cell Line | EDJ-KQ34840 | Human | 27069 | Details Get a Quote |
| GHITM Knockout HeLa Cell Line | EDJ-KQ34841 | Human | 27069 | Details Get a Quote |
