1. Gene
  2. SEMA7A - semaphorin 7A (John Milton Hagen blood group) Gene

SEMA7A - semaphorin 7A (John Milton Hagen blood group) Gene

中文名称:信号蛋白 7A (约翰·米尔顿·哈根血型)

种属: Homo sapiens

同用名: JMH; CD108; SEMAL; CDw108; PFIC11; SEMAK1; H-Sema-L; H-SEMA-K1

基因 ID: 8482 | 基因类型: protein coding

关于 SEMA7A

Cytogenetic location: 15q24.1 Genomic coordinates (GRCh38): 15:74,409,289-74,433,958 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 202 orthologues, 19 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 25.1), spleen (RPKM 22.9) and 14 other tissues.

功能概要

该基因编码信号素蛋白家族的成员。编码的前原蛋白经过蛋白水解处理,生成成熟的糖基磷脂酰肌醇 (GPI) 锚定膜糖蛋白。编码的蛋白质存在于活化的淋巴细胞和红细胞上,可能参与免疫调节和神经元过程。编码的蛋白质携带 John Milton Hagen (JMH) 血型抗原。该基因的突变可能与骨矿物质密度 (BMD) 降低有关。可变剪接导致多个转录本变体,其中至少一个编码一种经过蛋白水解处理的亚型。[RefSeq 提供,2016 年 2 月]

This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

SEMA7A 基因产物(3)

mRNA Protein Name
NM_001146029.3 NP_001139501.1 semaphorin-7A isoform 2 precursor
NM_001146030.3 NP_001139502.1 semaphorin-7A isoform 3
NM_003612.5 NP_003603.1 semaphorin-7A isoform 1 preproprotein
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 protein binding IPI
IPI: 通过物理相互作用推断
17474147 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in integrin-mediated signaling pathway IDA
IDA: 通过直接分析推断
12879062 GOA
involved in positive regulation of ERK1 and ERK2 cascade IDA
IDA: 通过直接分析推断
12879062 GOA
involved in positive regulation of axon extension IDA
IDA: 通过直接分析推断
12879062 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

SEMA7A 蛋白结构

Sema

Sema: Sema domain (77 - 472)

PSI

PSI: Plexin repeat (493 - 527)

Ig_2

Ig_2: Immunoglobulin domain (554 - 619)

  • 0
  • 200
  • 400
  • 600
  • 666 a.a.
蛋白主名 其他名称

semaphorin-7A

JMH blood group antigen

SEMA7A 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
SEMA7A O75326 PLXNC1 Homo sapiens O60486
ITC
20727575
种属内
SEMA7A O75326 PLXNC1 Homo sapiens O60486 20727575
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SEMA7A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P78033 Semaphorin-7A/SEMA7A Protein, Human (HEK293, His) O75326-1 (Q45-A648) ≥95%

SEMA7A 抗体

目录号 产品名 应用 反应物种
HY-P83487 Semaphorin 7A Antibody (YA3232) WB, IHC-P, IP Human

关联疾病

疾病名称 别名
Cholestasis, Progressive Familial Intrahepatic, 11

PFIC11

Blood Group, John Milton Hagen System

JMH

John Milton Hagen Blood Group System

Jmh Blood Group System

Blood Group, John-Milton-Hagen System

Blood Group System, John Milton Hagen

Chromosome 15q24 Deletion Syndrome

15q24 Microdeletion Syndrome

Del(15)(Q24)

Monosomy 15q24

15q24 Microdeletion

15q24 Deletion

Interstitial Deletion Of Chromosome 15q24

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

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
Felis catus SEMA7A VGNC VGNC:80850
Mus musculus SEMA7A MGD MGI:1306826
Macaca mulatta SEMA7A VGNC VGNC:99236
Bos taurus SEMA7A VGNC VGNC:53952
Canis familiaris SEMA7A VGNC VGNC:59128
Rattus norvegicus SEMA7A RGD RGD:1305192
Others SEMA7A NCBI