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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

CACFD1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CACFD1	Q9UGQ2	NDRG4	Homo sapiens	Q9ULP0-2	Validated Y2H	32296183
Intra	CACFD1	Q9UGQ2	PITPNC1	Homo sapiens	Q9UKF7-2	Validated Y2H	32296183
Intra	CACFD1	Q9UGQ2	SH3GLB1	Homo sapiens	Q9Y371	Validated Y2H	32296183
Intra	CACFD1	Q9UGQ2	LDAF1	Homo sapiens	Q96B96	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

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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