CACFD1 - calcium channel flower domain containing 1 Gene

Also Known as C9orf7; FLOWER; D9S2135

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11094

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 References 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

Cg6151-P: Uncharacterized conserved protein CG6151-P (35 - 143)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

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 Set / 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
Others CACFD1 NCBI