1. Gene
  2. DSCAML1 - DS cell adhesion molecule like 1 Gene

DSCAML1 - DS cell adhesion molecule like 1 Gene

中文名称:DS 细胞粘附分子 like 1

种属: Homo sapiens

同用名: DSCAM2

基因 ID: 57453 | 基因类型: protein coding

关于 DSCAML1

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:117,427,772-117,817,514 (from NCBI)

This gene has 5 transcripts (splice variants), 251 orthologues, 36 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 3.3), ovary (RPKM 1.2) and 9 other tissues.

功能概要

该基因编码的蛋白质是细胞粘附分子 Ig 超家族的成员,参与神经元分化。编码的膜结合蛋白定位于细胞表面,在那里它形成聚集体,排斥相同细胞类型的神经元过程。[RefSeq 提供,2016 年 9 月]

The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]

DSCAML1 基因产物(3)

mRNA Protein Name
NM_001367904.1 NP_001354833.1 cell adhesion molecule DSCAML1 isoform 2 precursor
NM_001367905.1 NP_001354834.1 cell adhesion molecule DSCAML1 isoform 3
NM_020693.4 NP_065744.3 cell adhesion molecule DSCAML1 isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
11453658 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in brain development IDA
IDA: 通过直接分析推断
12051741 GOA
involved in embryonic skeletal system morphogenesis IDA
IDA: 通过直接分析推断
12051741 GOA
involved in homophilic cell adhesion via plasma membrane adhesion molecules IDA
IDA: 通过直接分析推断
11453658 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
11453658 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

DSCAML1 蛋白结构

Ig_2

Ig_2: Immunoglobulin domain (194 - 276)

I-set

I-set: Immunoglobulin I-set domain (289 - 370)

I-set

I-set: Immunoglobulin I-set domain (377 - 456)

I-set

I-set: Immunoglobulin I-set domain (468 - 562)

I-set

I-set: Immunoglobulin I-set domain (569 - 638)

I-set

I-set: Immunoglobulin I-set domain (667 - 746)

I-set

I-set: Immunoglobulin I-set domain (750 - 843)

I-set

I-set: Immunoglobulin I-set domain (851 - 944)

fn3

fn3: Fibronectin type III domain (949 - 1034)

fn3

fn3: Fibronectin type III domain (1049 - 1138)

fn3

fn3: Fibronectin type III domain (1153 - 1239)

fn3

fn3: Fibronectin type III domain (1253 - 1337)

I-set

I-set: Immunoglobulin I-set domain (1365 - 1440)

fn3

fn3: Fibronectin type III domain (1448 - 1527)

  • 0
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  • 2000
  • 2113 a.a.
蛋白主名 其他名称

cell adhesion molecule DSCAML1

Down syndrome cell adhesion molecule-like protein 1

DSCAM-like 1

关联疾病

疾病名称 别名
Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis

Lysosomal Beta-Mannosidase Deficiency

Beta-Mannosidase Deficiency

Beta-D-Mannosidosis

Mannosidosis, Beta

MANSB

Lysosomal Beta A Mannosidosis

Seckel Syndrome 5

SCKL5

Seckel Syndrome, Type 5

Jacobsen Syndrome

Chromosome 11q Deletion Syndrome

Partial 11q Monosomy Syndrome

Jacobsen Distal 11q Deletion Syndrome

JBS

11q Partial Monosomy Syndrome

Chromosome 11q Deletion

11q Deletion

11q Monosomy

Deletion 11q

Monosomy 11q

Partial Monosomy 11q

11q Deletion Disorder

11q Deletion Syndrome

11q Terminal Deletion Disorder

11q- Deletion Syndrome

11q23 Deletion Disorder

Jacobsen Thrombocytopenia

11q Terminal Deletion Syndrome

Del(11)(Q23.3)

Del(11)(Qter)

Distal Deletion 11q

Distal Monosomy 11q

Monosomy 11qter

Telomeric Deletion 11q

Paris-Trousseau Thrombocytopenia

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 DSCAML1 VGNC VGNC:97760
Felis catus DSCAML1 VGNC VGNC:82011
Bos taurus DSCAML1 VGNC VGNC:28216
Mus musculus DSCAML1 MGD MGI:2150309
Rattus norvegicus DSCAML1 RGD RGD:1304887
Canis familiaris DSCAML1 VGNC VGNC:97189