2. Gene
  3. CBLIF - cobalamin binding intrinsic factor Gene

CBLIF - cobalamin binding intrinsic factor Gene

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

中文名称：钴胺素结合内因子

种属: Homo sapiens

同用名: IF; GIF; INF; IFMH; TCN3

基因 ID: 2694 | 基因类型: protein coding

关于 CBLIF

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:59,829,273-59,845,499 (from NCBI)

This gene has 5 transcripts (splice variants), 131 orthologues, 2 paralogues and is associated with 2 phenotypes. Restricted expression toward stomach (RPKM 444.5).

功能概要

该基因是钴胺素转运蛋白家族的成员。它编码一种由胃粘膜壁细胞分泌的糖蛋白，是维生素 B12 充分吸收所必需的。维生素 B12 是红细胞成熟所必需的，该基因的突变可能导致先天性恶性贫血。[RefSeq 提供，2008 年 7 月]

This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]

CBLIF 基因产物(1)

mRNA Protein Name
NM_005142.3 NP_005133.2 cobalamin binding intrinsic factor precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cargo receptor ligand activity EXP
EXP: 通过实验结果推断
17954916 GOA
enables cobalamin binding IDA
IDA: 通过直接分析推断
14695536 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20237569 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cobalamin transport IMP
IMP: 通过突变表型推断
15738392 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
8886952 GOA
located in endosome IDA
IDA: 通过直接分析推断
8886952 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
14695536 GOA
located in microvillus IDA
IDA: 通过直接分析推断
8886952 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

CBLIF 蛋白结构

Cobalamin_bind

Cobalamin_bind: Eukaryotic cobalamin-binding protein (7 - 313)

  • 0
  • 100
  • 200
  • 300
  • 417 a.a.
蛋白主名 其他名称

cobalamin binding intrinsic factor

gastric intrinsic factor (vitamin B synthesis)

CBLIF 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
种属内
CBLIF P27352 TMEM237 Homo sapiens Q96Q45-2
Validated Y2H
32296183
种属内
CBLIF P27352 TMEM237 Homo sapiens Q96Q45-2
Y2H Prey Pooling
32296183
种属内
CBLIF P27352 TMEM237 Homo sapiens Q96Q45-2
Y2H Array
32296183
种属内
CBLIF P27352 SLC22A23 Homo sapiens A1A5C7-2
Y2H Array
32296183
种属内
CBLIF P27352 SLC22A23 Homo sapiens A1A5C7-2
Y2H Prey Pooling
32296183
种属内
CBLIF P27352 SLC13A4 Homo sapiens Q9UKG4
Validated Y2H
32296183
种属内
CBLIF P27352 SLC13A4 Homo sapiens Q9UKG4
Y2H Array
32296183
种属内
CBLIF P27352 SLC13A4 Homo sapiens Q9UKG4
Y2H Prey Pooling
32296183
种属内
CBLIF P27352 FFAR2 Homo sapiens O15552
Y2H Prey Pooling
32296183
种属内
CBLIF P27352 FFAR2 Homo sapiens O15552
Y2H Array
32296183
种属内
CBLIF P27352 CUBN Homo sapiens O60494
GMS
20237569
种属内
CBLIF P27352 CUBN Homo sapiens O60494
X-Ray Diffraction
20237569
种属内
CBLIF P27352 SLC7A1 Homo sapiens P30825
Y2H Prey Pooling
32296183
种属内
CBLIF P27352 SLC7A1 Homo sapiens P30825
Validated Y2H
32296183
种属内
CBLIF P27352 SLC7A1 Homo sapiens P30825
Y2H Array
32296183
种属内
CBLIF P27352 SLC7A14 Homo sapiens Q8TBB6
Validated Y2H
32296183
种属内
CBLIF P27352 SLC7A14 Homo sapiens Q8TBB6
Y2H Array
32296183
种属内
CBLIF P27352 SLC7A14 Homo sapiens Q8TBB6
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CBLIF 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73859 Intrinsic Factor/GIF Protein, Human (HEK293, His) P27352-1 (S19-Y417) ≥95%
HY-P700085AF Animal-Free Intrinsic Factor/GIF Protein, Human (His) P27352-1 (M1-Y417) ≥95%

关联疾病

疾病名称 别名
Intrinsic Factor Deficiency

IFD

Pernicious Anemia, Congenital, Due To Defect Of Intrinsic Factor

Congenital Intrinsic Factor Deficiency

Congenital Pernicious Anemia Due To Defect Of Intrinsic Factor

Intrinsic Factor, Congenital Deficiency Of

Hereditary Intrinsic Factor Deficiency

Congenital Pernicious Anemia

Congenital Deficiency Of Intrinsic Factor

Megaloblastic Anemia Due To Inborn Errors Of Metabolism
Congenital Intrinsic Factor Deficiency

Hereditary Intrinsic Factor Deficiency

Intrinsic Factor Deficiency

Congenital Pernicious Anemia

Gastric Intrinsic Factor Deficiency

Hereditary Juvenile Megaloblastic Anemia Due To Intrinsic Factor Deficiency

Ifd

Intrinsic Factor Deficiency, Congenital, Susceptibility To

Congenital Deficiency Of Intrinsic Factor

Megaloblastic Anemia Due To Inborn Errors Of Metabolism
Pernicious Anemia

Anemia, Pernicious

Anemia Pernicious

Pernicious Anaemia

Addison'S Anaemia

Biermer'S Anaemia

Biermer'S Anemia

Acquired Pernicious Anemia

Addison-Biermer Anemia

Addisonian Anemia

Biermer Anemia

Biermer'S Disease

Juvenile Onset Pernicious Anemia

Biermer Disease

Biermer-Addison Disease
Megaloblastic Anemia

Imerslund-Grasbeck Syndrome

Igs

Defect Of Enterocyte Intrinsic Factor Receptor

Enterocyte Cobalamin Malabsorption

Familial Megaloblastic Anemia

Megaloblastic Anemia 1

Selective Cobalamin Malabsorption With Proteinuria

Imerslund-Gräsbeck Syndrome

Anemia, Megaloblastic

Grasbeck-Imerslund Syndrome

Megaloblastic Anaemia

Mga1 Norwegian Type

Recessive Hereditary Megaloblastic Anaemia 1

Recessive Hereditary Megaloblastic Anemia 1

Rh-Mga1

Gräsbeck-Imerslund Disease

Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria

Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12

Anemia Megaloblastic

Megaloblastic Anemia Due To Inborn Errors Of Metabolism

3-@Methylglutaconic Aciduria, Type I
Transcobalamin Ii Deficiency

TCN2 DEFICIENCY

Tc Ii Deficiency

Transcobalamin Deficiency

Tc Deficiency

Inherited Deficiency Of Transcobalamin
Diphyllobothriasis

Diphyllobothrium Infection

Fish Tapeworm

Bothriocephalosis

Infection By Bothriocephalus

Fish Tapeworm Infection

Dibothriocephalus Anaemia

Dibothriocephaliasis

Broad Tapeworm Infection

Bothriocephaliasis

Dibothriocephalus

Intestinal Diphyllobothriasis

Diphyllobothrium Infestation

Dibothriocephalus Infestation

Bothriocephalus Infestation

Adult Diphyllobothrium Infection

Tapeworm Anaemia

Infection By Diphyllobothrium Larvae
Ludwig'S Angina

Cellulitis Of Floor Of Mouth

Ludwig Angina
Autoimmune Gastritis
Vitamin Metabolic Disorder
Vitamin B12 Deficiency

Cobalamin Deficiency

Hypocobalaminemia

Vitamin B 12 Deficiency

Cyanocobalamin Deficiency

Deficiency Of Vitamin B12
Tropical Sprue

Tropical Steatorrhea

Tropical Enteropathy

Sprue, Tropical

Sprue - Tropical

Idiopathic Tropical Malabsorption Syndrome

Tropical Steatorrhoea

Tropical Diarrhoea

Ts - [Tropical Sprue]

Psilosis

Sprue Nos
Homocystinuria

Cystathionine Beta Synthase Deficiency

Homocysteinemia

Cbs Deficiency

Cystathionine Synthase Deficiency

Cystathionine Beta-Synthase Deficiency Disease
Copper Deficiency Myelopathy

Swayback

Human Swayback
Blind Loop Syndrome

Bacterial Overgrowth Syndrome
Pancytopenia
Necrotizing Fasciitis

Fasciitis, Necrotizing
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
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-RS01999 CBLIF Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus CBLIF VGNC VGNC:60423
Bos taurus CBLIF VGNC VGNC:29354
Rattus norvegicus CBLIF RGD RGD:62084
Mus musculus CBLIF MGD MGI:1202394
Macaca mulatta CBLIF VGNC VGNC:107435
Canis familiaris CBLIF VGNC VGNC:41212
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