Gene
hcfc1a
- ID
- ZDB-GENE-030912-10
- Name
- host cell factor C1a
- Symbol
- hcfc1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable transcription coactivator activity. Acts upstream of or within brain development. Predicted to be part of histone methyltransferase complex. Human ortholog(s) of this gene implicated in methylmalonic acidemia and homocysteinemia cblX type. Orthologous to human HCFC1 (host cell factor C1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7159458 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 9 figures from Castro et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
methylmalonic acidemia and homocysteinemia cblX type | Alliance | Methylmalonic aciduria and homocysteinemia, cblX type | 309541 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR003961 | Fibronectin type III |
Family | IPR043536 | Host cell factor |
Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
Homologous_superfamily | IPR015915 | Kelch-type beta propeller |
Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
Repeat | IPR006652 | Kelch repeat type 1 |
Domain Details Per Protein
Protein | Length | Fibronectin type III | Fibronectin type III superfamily | Host cell factor | Immunoglobulin-like fold | Kelch repeat type 1 | Kelch-type beta propeller |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M3AXL2
|
1802 | ||||||
UniProtKB:Q7SZY1
|
1778 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
hcfc1a-201
(1)
|
Ensembl | 6,964 nt |
Interactions and Pathways
No data available
Plasmids
No data available