1. Gene
  2. BCAM - basal cell adhesion molecule (Lutheran blood group) Gene

BCAM - basal cell adhesion molecule (Lutheran blood group) Gene

中文名称:基底细胞粘附分子 (路德血型)

种属: Homo sapiens

同用名: AU; LU; CD239; MSK19

基因 ID: 4059 | 基因类型: protein coding

关于 BCAM

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:44,809,059-44,821,421 (from NCBI)

This gene has 9 transcripts (splice variants), 176 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in kidney (RPKM 99.8), prostate (RPKM 62.6) and 19 other tissues.

功能概要

该基因编码 Lutheran 血型糖蛋白,它是免疫球蛋白超家族的成员,也是细胞外基质蛋白层粘连蛋白的受体。该蛋白质包含五个细胞外免疫球蛋白结构域、一个跨膜结构域和一个短的 C 末端胞质尾。这种蛋白质可能在上皮细胞癌和镰状细胞病中的红细胞血管阻塞中发挥作用。该基因的多态性定义了 Lutheran 系统和 Auberger 系统中的一些抗原。该基因的失活变体导致路德宗血型的隐性路德宗无效表型 Lu (ab-) 。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2012 年 5 月]

This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell Cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

BCAM 基因产物(2)

mRNA Protein Name
NM_001013257.2 NP_001013275.1 basal cell adhesion molecule isoform 2 precursor
NM_005581.5 NP_005572.2 basal cell adhesion molecule isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables laminin binding IMP
IMP: 通过突变表型推断
16236823 GOA
enables laminin receptor activity IMP
IMP: 通过突变表型推断
16236823 GOA
enables protein binding IDA
IDA: 通过直接分析推断
24453976 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell-matrix adhesion IMP
IMP: 通过突变表型推断
16236823 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

BCAM 蛋白结构

Ig_2

Ig_2: Immunoglobulin domain (34 - 143)

C2-set_2

C2-set_2: CD80-like C2-set immunoglobulin domain (151 - 248)

Ig_2

Ig_2: Immunoglobulin domain (275 - 358)

Ig_2

Ig_2: Immunoglobulin domain (373 - 434)

Ig_3

Ig_3: Immunoglobulin domain (462 - 526)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 628 a.a.
蛋白主名 其他名称

basal cell adhesion molecule

Auberger b antigen

BCAM 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
BCAM P50895 KRTAP1-3 Homo sapiens Q8IUG1 32296183
种属内
BCAM P50895 KRTAP1-3 Homo sapiens Q8IUG1 32296183
种属内
BCAM P50895 KRTAP1-1 Homo sapiens Q07627 32296183
种属内
BCAM P50895 KRTAP1-1 Homo sapiens Q07627 32296183
种属内
BCAM P50895 KRTAP1-1 Homo sapiens Q07627 32296183
种属内
BCAM P50895 NOTCH2NLC Homo sapiens P0DPK4 32296183
种属内
BCAM P50895 NOTCH2NLC Homo sapiens P0DPK4 32296183
种属内
BCAM P50895 TRIM7 Homo sapiens Q9C029 32296183
种属内
BCAM P50895 TRIM7 Homo sapiens Q9C029 32296183
种属内
BCAM P50895 TRIM7 Homo sapiens Q9C029 32296183
种属内
BCAM P50895 MDFI Homo sapiens Q99750 32296183
种属内
BCAM P50895 MDFI Homo sapiens Q99750 32296183
种属内
BCAM P50895 MDFI Homo sapiens Q99750 32296183
种属内
BCAM P50895 KLHL2 Homo sapiens O95198 25910212
种属内
BCAM P50895 KLHL2 Homo sapiens O95198 25910212
种属内
BCAM P50895 KLHL2 Homo sapiens O95198 25910212
种属内
BCAM P50895 KLHL2 Homo sapiens O95198 25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 BCAM 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7648 BCAM Protein, Human (HEK293, His) P50895 (E32-A547) ≥95%

BCAM 抗体

目录号 产品名 应用 反应物种
HY-P82631 CD239 Antibody (YA2376) WB, IHC-P, IP, FC Human, Mouse, Rat
HY-P84368 CD239 Antibody (YA4065) IHC-P, FC, ELISA Human

关联疾病

疾病名称 别名
Lutheran Null

Recessive Lu Phenotype

Sickle Cell Disease

Hbs Disease

Hemoglobin S Disease

Scd

Sickle Cell Disorders

Sickling Disorder Due To Hemoglobin S

Anemia, Sickle Cell

Hb-Ss Disease Without Crisis

Hbss Without Crisis

Sickle-Cell Anaemia Without Crisis

Scd - [Sickle Cell Disease]

Sca - [Sickle Cell Anaemia]

Sickle Cell Disease Nos

Sickle Cell Disorder

Sickle Cell Syndrome

Sickle-Cell Anaemia Nos

Sickle-Cell Disorder Nos

Haemoglobin S Disease

Haemoglobin Ss Disease

Hb S Disease

Hb Ss Disease

Herrick Anaemia

Hereditary Haemoglobinopathy Disorder Homozygous For Haemoglobin S

Sickle-Cell Haemoglobin Disease

Sickling Disorder Due To Haemoglobin S

Hb-Ss Disease With Crisis

Sickle Cell Crisis

Sickle-Cell Disorder With Crisis

Sickle-Cell Anaemia With Crisis

Hbss With Crisis

Hb S Disease With Mention Of Crisis

Haemoglobin Ss Disease With Crisis

Hb-Ss Disease With Vaso-Occlusive Pain

Vaso-Occlusive Crisis

Polycythemia Vera

PV

Polycythemia Rubra Vera

Prv

Osler-Vaquez Disease

Chronic Erythremia

Polycythaemia Rubra Vera

Primary Polycythemia

Vaquez Disease

Polycythemia Vera, Somatic

Osler-Vaquez Syndrome

Proliferative Polycythaemia

Polycythemia Ruba Vera

Acquired Primary Erythrocytosis

Heilmeyer-Schoner Disease

Vaquez Osler Disease

Primary Polycythaemia

Anemia, Congenital Dyserythropoietic, Type Iv

CDAN4

Congenital Dyserythropoietic Anemia Type Iv

Congenital Dyserythropoietic Anemia Type 4

Cda Iv

Cda Due To Klf1 Mutation

Cda Type 4

Cda Type Iv

Congenital Dyserythropoietic Anemia Due To Klf1 Mutation

Cda, Type Iv

Dyserythropoietic Anemia, Congenital, Type Iv

Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation

Congenital Dyserythropoietic Anaemia Type 4

Congenital Dyserythropoietic Anaemia Type Iv

Anemia, Congenital Dyserythropoietic, 4

Anemia, Dyserythropoietic Congenital, Type Iv

Anemia, Dyserythropoietic, Congenital, Type Iv

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

Sickle Cell Anemia

Hemoglobin Sc Disease

Anemia, Sickle Cell

Hbsc Disease

Sickle Cell-Hemoglobin C Disease Syndrome

Hb Ss Disease

Sickle Cell Trait

Drepanocytosis

Haemoglobin Sc Disease

Hb Sc Disease

Hb-S/Hb-C Disease

Hb-Ss Disease Without Crisis

Hemoglobin S Disease Without Crisis

Sickle Cell Anaemia

Sickle-Cell/Hb-C Disease Without Crisis

Sickle Cell - Hemoglobin C Disease

Hbs Disease

Hemoglobin S Disease

Sickling Disorder Due To Hemoglobin S

SKCA

Sickle Cell Disease

Sickle Cell-Hemoglobin C Disease

Sickle-Cell Disease Carrier

Sickle-Cell Heterozygous Disorder

Haemoglobin A-S Genotype

Hb-S - [Sickle Cell Haemoglobin] Carrier

Sickle Cell Haemoglobin Trait

As - [Sickle Cell Trait]

Hbas - [Sickle Cell Haemoglobin Trait]

Sickle-Cell Trait Haemoglobin Disease

Haemoglobin Sickle Cell Trait Disorder

Heterozygous Sickle Cell Trait

Hbas - [Heterozygous Haemoglobin S]

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus BCAM RGD RGD:68378
Macaca mulatta BCAM VGNC VGNC:108477
Canis familiaris BCAM VGNC VGNC:49023
Mus musculus BCAM MGD MGI:1929940
Bos taurus BCAM VGNC VGNC:49138
Macaca fascicularis BCAM NCBI NCBI:102137071
Others BCAM NCBI