1. Gene
  2. SEMA6D - semaphorin 6D Gene

SEMA6D - semaphorin 6D Gene

中文名称:信号素 6D

种属: Homo sapiens

基因 ID: 80031 | 基因类型: protein coding

关于 SEMA6D

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:47,184,089-47,774,228 (from NCBI)

This gene has 17 transcripts (splice variants), 205 orthologues and 19 paralogues. Broad expression in small intestine (RPKM 13.9), placenta (RPKM 10.4) and 19 other tissues.

功能概要

脑信号素是一个大家族,包括分泌蛋白和膜相关蛋白,其中许多在轴突寻路、肌束形成和分支以及目标选择中作为抑制剂或化学驱避剂。所有信号素都在 N 末端细胞外部分具有一个信号素 (Sema) 结构域和一个 PSI 结构域 (在丛蛋白、信号素和整合素中发现) 。信号蛋白域 C 端的附加序列基序允许分类为不同的亚家族。结果表明,跨膜信号蛋白与分泌的信号蛋白一样,可以作为排斥性轴突引导信号。该基因编码 6 类脊椎动物跨膜信号蛋白,该信号蛋白显示选择性剪接。已经确定了几种转录变体,并且认为不同编码亚型的表达以组织和发育依赖性方式进行调节。[RefSeq 提供,2010 年 11 月]

Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010]

SEMA6D 基因产物(9)

mRNA Protein Name
NM_001198999.2 NP_001185928.1 semaphorin-6D isoform 1 precursor
NM_001358351.3 NP_001345280.1 semaphorin-6D isoform 4 precursor
NM_001358352.2 NP_001345281.1 semaphorin-6D isoform 7 precursor
NM_020858.2 NP_065909.1 semaphorin-6D isoform 1 precursor
NM_024966.3 NP_079242.2 semaphorin-6D isoform 6 precursor
NM_153616.2 NP_705869.1 semaphorin-6D isoform 2 precursor
NM_153617.2 NP_705870.1 semaphorin-6D isoform 3 precursor
NM_153618.2 NP_705871.1 semaphorin-6D isoform 4 precursor
NM_153619.1 NP_705872.1 semaphorin-6D isoform 5 precursor
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of axon extension IDA
IDA: 通过直接分析推断
12110693 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IMP
IMP: 通过突变表型推断
12110693 GOA
located in cytoplasm IMP
IMP: 通过突变表型推断
12110693 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

SEMA6D 蛋白结构

Sema

Sema: Sema domain (65 - 475)

PSI

PSI: Plexin repeat (514 - 551)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1073 a.a.
蛋白主名 其他名称

semaphorin-6D

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D

关联疾病

疾病名称 别名
Cone-Rod Dystrophy 10

CORD10

Dystrophy, Cone-Rod, Type 10

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

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
Canis familiaris SEMA6D VGNC VGNC:46004
Bos taurus SEMA6D VGNC VGNC:34444
Mus musculus SEMA6D MGD MGI:2387661
Felis catus SEMA6D VGNC VGNC:65001
Macaca mulatta SEMA6D VGNC VGNC:77250
Rattus norvegicus SEMA6D RGD RGD:1310910
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