1. Gene
  2. SEMA5A - semaphorin 5A Gene

SEMA5A - semaphorin 5A Gene

中文名称:信号素 5A

种属: Homo sapiens

同用名: semF; SEMAF

基因 ID: 9037 | 基因类型: protein coding

关于 SEMA5A

Cytogenetic location: 5p15.31 Genomic coordinates (GRCh38): 5:9,035,033-9,546,075 (from NCBI)

This gene has 5 transcripts (splice variants), 206 orthologues, 19 paralogues and is associated with 1 phenotype. Broad expression in lung (RPKM 6.9), kidney (RPKM 6.5) and 24 other tissues.

功能概要

该基因属于信号蛋白基因家族,该家族编码的膜蛋白包含一个信号蛋白结构域和几个血小板反应蛋白 1 型重复序列。该家族的成员参与神经发育过程中的轴突导向。该基因被认为是自闭症易感基因。[RefSeq 提供,2010 年 1 月]

This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]

SEMA5A 基因产物(1)

mRNA Protein Name
NM_003966.3 NP_003957.2 semaphorin-5A precursor

SEMA5A 蛋白结构

Sema

Sema: Sema domain (58 - 467)

PSI

PSI: Plexin repeat (486 - 533)

TSP_1

TSP_1: Thrombospondin type 1 domain (599 - 647)

TSP_1

TSP_1: Thrombospondin type 1 domain (658 - 701)

TSP_1

TSP_1: Thrombospondin type 1 domain (788 - 838)

TSP_1

TSP_1: Thrombospondin type 1 domain (846 - 895)

TSP_1

TSP_1: Thrombospondin type 1 domain (900 - 941)

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  • 1074 a.a.
蛋白主名 其他名称

semaphorin-5A

sema F

重组 SEMA5A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70496 Semaphorin-5A/SEMA5A Protein, Human (HEK293, His) Q13591 (E23-T765) ≥95%
HY-P74560 Semaphorin-5A/SEMA5A Protein, Human (HEK293, Fc) Q13591 (M1-T765) ≥95%

关联疾病

疾病名称 别名
Cri-Du-Chat Syndrome

5p Deletion Syndrome

5p Partial Monosomy Syndrome

Monosomy 5p

Cat Cry Syndrome

Chromosome 5p Deletion Syndrome

Cri Du Chat Syndrome

5p- Syndrome

5p Minus Syndrome

Chromosome 5p- Syndrome

Chromosome 5 Short Arm Deletion Syndrome

Chromosome 5p Deletion

Deletion 5p

Cri Du Chat

5p Partial Deletion Syndrome

Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

Glioma
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Mus musculus SEMA5A MGD MGI:107556
Rattus norvegicus SEMA5A RGD RGD:1308650
Bos taurus SEMA5A VGNC VGNC:34439
Canis familiaris SEMA5A VGNC VGNC:45999
Macaca mulatta SEMA5A VGNC VGNC:77169
Felis catus SEMA5A VGNC VGNC:64997
Others SEMA5A NCBI