1. Gene
  2. NBEAL1 - neurobeachin like 1 Gene

NBEAL1 - neurobeachin like 1 Gene

中文名称:神经海滩样 1

种属: Homo sapiens

同用名: ALS2CR16; ALS2CR17; A530083I02Rik

基因 ID: 65065 | 基因类型: protein coding

关于 NBEAL1

Cytogenetic location: 2q33.2 Genomic coordinates (GRCh38): 2:203,014,608-203,225,194 (from NCBI)

This gene has 24 transcripts (splice variants), 237 orthologues and 7 paralogues. Ubiquitous expression in ovary (RPKM 12.9), colon (RPKM 8.5) and 25 other tissues.

功能概要

预测启用蛋白激酶结合活性。预计参与蛋白质定位。预计在胞质溶胶和膜中具有活性。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable protein kinase binding activity. Predicted to be involved in protein localization. Predicted to be active in cytosol and membrane. [provided by Alliance of Genome Resources, Apr 2022]

NBEAL1 基因产物(2)

mRNA Protein Name
NM_001114132.2 NP_001107604.1 neurobeachin-like protein 1 isoform 1
NM_001378026.1 NP_001364955.1 neurobeachin-like protein 1 isoform 2

NBEAL1 蛋白结构

Laminin_G_3

Laminin_G_3: Concanavalin A-like lectin/glucanases superfamily (573 - 716)

PH_BEACH

PH_BEACH: PH domain associated with Beige/BEACH (1888 - 1979)

Beach

Beach: Beige/BEACH domain (2004 - 2284)

WD40

WD40: WD domain, G-beta repeat (2435 - 2468)

WD40

WD40: WD domain, G-beta repeat (2483 - 2518)

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  • 2694 a.a.
蛋白主名 其他名称

neurobeachin-like protein 1

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16

关联疾病

疾病名称 别名
Amyotrophic Lateral Sclerosis 2, Juvenile

ALS2

Als, Juvenile

Alsj

Amyotrophic Lateral Sclerosis Type 2

Amyotrophic Lateral Sclerosis 2

Amyotrophic Lateral Sclerosis Type 2, Juvenile

Amyotrophic Lateral Sclerosis Juvenile

Amyotrophic Lateral Sclerosis Juvenile 2

Sclerosis, Lateral, Amyotrophic, Type Type 2

Ovary Serous Adenocarcinoma

Malignant Ovarian Serous Tumor

Serous Carcinoma Of Ovary

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
Rattus norvegicus NBEAL1 RGD RGD:1594799
Mus musculus NBEAL1 MGD MGI:2444343
Bos taurus NBEAL1 VGNC VGNC:31894
Canis familiaris NBEAL1 VGNC VGNC:43633
Felis catus NBEAL1 VGNC VGNC:63729
Macaca mulatta NBEAL1 VGNC VGNC:99387