2. Gene
  3. CACFD1 - calcium channel flower domain containing 1 Gene

CACFD1 - calcium channel flower domain containing 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含钙通道花结构域 1

种属: Homo sapiens

同用名: C9orf7; FLOWER; D9S2135

基因 ID: 11094 | 基因类型: protein coding

关于 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.

功能概要

预计参与囊泡介导的运输。预计是膜的组成部分。 [由基因组资源联盟提供，2022 年 4 月]

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

CACFD1 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
21516116 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CACFD1 蛋白结构

Cg6151-P

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

  • 0
  • 100
  • 172 a.a.
蛋白主名 其他名称

calcium channel flower homolog

calcium channel flower domain-containing protein 1

CACFD1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01789 CACFD1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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