1. Gene
  2. SORCS1 - sortilin related VPS10 domain containing receptor 1 Gene

SORCS1 - sortilin related VPS10 domain containing receptor 1 Gene

中文名称:含 sortilin 相关 VPS10 域受体 1

种属: Homo sapiens

同用名: hSorCS

基因 ID: 114815 | 基因类型: protein coding

关于 SORCS1

Cytogenetic location: 10q25.1 Genomic coordinates (GRCh38): 10:106,573,663-107,181,138 (from NCBI)

This gene has 10 transcripts (splice variants), 425 orthologues and 4 paralogues. Broad expression in thyroid (RPKM 5.3), brain (RPKM 3.7) and 16 other tissues.

功能概要

该基因编码一个包含液泡蛋白分选 10 (VPS10) 结构域的受体蛋白家族成员。 VPS10 域名来源于酵母羧肽酶 Y 分选受体 Vps10 蛋白。这个基因家族的成员很大,有很多外显子,但 CDS 长度通常小于 3700 nt。非常大的内含子通常将编码 VPS10 域的外显子分开;其余的外显子被更小的内含子隔开。这些基因在中枢神经系统中强烈表达。五个家族成员中的两个 (sortilin 和 sortilin 相关受体) 被合成为前原蛋白;目前尚不清楚这种编码的蛋白质是否也是前原蛋白。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing Receptor Proteins. The VPS10 domain name comes from the yeast Carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

SORCS1 基因产物(7)

mRNA Protein Name
NM_001013031.3 NP_001013049.1 VPS10 domain-containing receptor SorCS1 isoform b precursor
NM_001206569.2 NP_001193498.1 VPS10 domain-containing receptor SorCS1 isoform c precursor
NM_001206570.2 NP_001193499.1 VPS10 domain-containing receptor SorCS1 isoform d precursor
NM_001206571.2 NP_001193500.1 VPS10 domain-containing receptor SorCS1 isoform e precursor
NM_001206572.2 NP_001193501.1 VPS10 domain-containing receptor SorCS1 isoform f precursor
NM_001387556.1 NP_001374485.1 VPS10 domain-containing receptor SorCS1 isoform g precursor
NM_052918.5 NP_443150.3 VPS10 domain-containing receptor SorCS1 isoform a precursor
基因本体论
  • 分子功能
  • 细胞组分
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
12482870 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
12482870 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

SORCS1 蛋白结构

PKD

PKD: PKD domain (808 - 880)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1168 a.a.
蛋白主名 其他名称

VPS10 domain-containing receptor SorCS1

VPS10 domain receptor protein SORCS 1

重组 SORCS1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76650 SorCS1 Protein, Human (HEK293, His) Q8WY21 (S111-S1099) ≥95%

关联疾病

疾病名称 别名
Alzheimer Disease 6

Ad6

Alzheimer Disease 6, Late-Onset

Alzheimer'S Disease 6

Alzheimer Disease 6, Late Onset

Alacrima, Achalasia, And Mental Retardation Syndrome

AAMR

Alacrima, Achalasia, And Intellectual Disability Syndrome

Alacrima, Achalasia, And Impaired Intellectual Development Syndrome

Intellectual Disability

Narcolepsy

Paroxysmal Sleep

Gelineau Syndrome

Narcoleptic Syndrome

Narcolepsy-Cataplexy Syndrome

Cataplexy And Narcolepsy

Narcolepsy, Without Cataplexy

Gelineau'S Syndrome

Narcolepsy With Or Without Cataplexy

Narcolepsy Nos

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Macaca mulatta SORCS1 VGNC VGNC:77724
Rattus norvegicus SORCS1 RGD RGD:1305910
Felis catus SORCS1 VGNC VGNC:65571
Canis familiaris SORCS1 VGNC VGNC:46659
Mus musculus SORCS1 MGD MGI:1929666
Bos taurus SORCS1 VGNC VGNC:35130
Others SORCS1 NCBI