ZNHIT1: Zinc Finger HIT-Type Containing 1
A core component of the SRCAP chromatin remodeling complex involved in histone variant exchange and transcriptional regulation.
Gene Information Card
| Symbol | ZNHIT1 |
|---|---|
| Full Name | Zinc Finger HIT-Type Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 10467 ncbi.nlm.nih.gov/gene/10467 |
| Ensembl ID | ENSG00000106462 |
| UniProt ID | O43257 |
| OMIM ID | 614578 |
| HGNC ID | 13179 |
| Aliases | CGBP1, HIT1, ZNFHX1 |
Description
ZNHIT1 (Zinc Finger HIT-Type Containing 1) encodes a protein that is a core component of the SRCAP chromatin remodeling complex. This complex mediates the exchange of histone H2A for the variant H2A.Z, a key step in transcriptional regulation, DNA repair, and chromosome segregation. ZNHIT1 contains a HIT-type zinc finger domain and is involved in nuclear receptor signaling and cellular differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.1 | Low |
| Heart | 6.5 | Low |
| Liver | 5.2 | Low |
| Kidney | 7.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney |
| HeLa | 12.8 | Cervical carcinoma |
| K562 | 10.5 | Leukemia |
| HepG2 | 9.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon; predicted to abolish protein expression |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • zinc ion binding |
| • chromatin remodeling | • SRCAP complex |
| • nucleus |
Pathways
• SRCAP complex-mediated H2A.Z exchange
• Chromatin organization
Protein Summary
The ZNHIT1 protein (UniProt O43257) is 207 amino acids long and contains a single HIT-type zinc finger domain. It localizes to the nucleus and is an integral subunit of the SRCAP chromatin remodeling complex. Through this complex, ZNHIT1 facilitates the deposition of histone variant H2A.Z into nucleosomes, influencing gene expression and genome stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNHIT1 Knockout HEK293 Cell Line | EDJ-KQ2777 | Human | 10467 | Details Get a Quote |
| ZNHIT1 Knockout HeLa Cell Line | EDJ-KQ22322 | Human | 10467 | Details Get a Quote |
| ZNHIT1 Knockout A-549 Cell Line | EDJ-KQ23688 | Human | 10467 | Details Get a Quote |
| ZNHIT1 Knockout HCT 116 Cell Line | EDJ-KQ23689 | Human | 10467 | Details Get a Quote |
