CACFD1 - calcium channel flower domain containing 1 Gene

Homo sapiens

Also known as C9orf7; FLOWER; D9S2135

Gene ID: 11094 | Gene type: protein coding

About CACFD1

Cytogenetic location: 9q34.2 Genomic coordinates (GRCh38): 9:133,459,978-133,470,848 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele and 202 orthologues. Broad expression in stomach (RPKM 8.2), colon (RPKM 7.0) and 25 other tissues.

Summary

Predicted to be involved in vesicle-mediated transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

CACFD1 Products(4)

mRNA	Protein	Name
NM_001135775.4	NP_001129247.1	calcium channel flower homolog isoform b
NM_001242369.2	NP_001229298.1	calcium channel flower homolog isoform c
NM_001242370.2	NP_001229299.1	calcium channel flower homolog isoform d
NM_017586.5	NP_060056.1	calcium channel flower homolog isoform a

CACFD1 Protein Structure

Cg6151-P

0
100
172 a.a.

Protein Preferred Names

Protein Names

calcium channel flower homolog

calcium channel flower domain-containing protein 1

Related Diseases

Diseases

Alias

Hyperphenylalaninemia, Bh4-Deficient, B

Gtp Cyclohydrolase I Deficiency	HPABH4B
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency	Bh4-Deficient Hyperphenylalaninemia B
Gtp Cyclohydrolase 1 Deficiency	Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase 1 Deficiency	Gtpch Deficiency
Hyperphenylalaninemia Due To Gtp Cyclohydrolase Deficiency	Atypical Severe Phenylketonuria Due To Gtp Cyclohydrolase I Deficiency
Gch1 Deficiency	Guanosine Triphosphate Cyclohydrolase I Deficiency
Hyperphenylalaninemia With Neopterin Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01789	CACFD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CACFD1	VGNC	VGNC:60291
Mus musculus	CACFD1	MGD	MGI:1924317
Bos taurus	CACFD1	VGNC	VGNC:26670
Macaca mulatta	CACFD1	VGNC	VGNC:70485
Rattus norvegicus	CACFD1	RGD	RGD:1311501

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