1. Gene
  2. NUCB1 - nucleobindin 1 Gene

NUCB1 - nucleobindin 1 Gene

中文名称:核结合蛋白 1

种属: Homo sapiens

同用名: NUC; CALNUC

基因 ID: 4924 | 基因类型: protein coding

关于 NUCB1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:48,900,312-48,923,372 (from NCBI)

This gene has 12 transcripts (splice variants), 191 orthologues and 1 paralogue. Ubiquitous expression in kidney (RPKM 89.1), fat (RPKM 86.3) and 25 other tissues.

功能概要

该基因编码一个小的钙结合 EF-hand 蛋白家族的成员。所编码的蛋白质被认为在高尔基体钙稳态和 Ca (2+) 调节信号转导事件中具有关键作用。[RefSeq 提供,2010 年 6 月]

This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. [provided by RefSeq, Jun 2010]

NUCB1 基因产物(1)

mRNA Protein Name
NM_006184.6 NP_006175.2 nucleobindin-1 precursor

NUCB1 蛋白结构

EF-hand_7

EF-hand_7: EF-hand domain pair (247 - 319)

  • 0
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  • 400
  • 461 a.a.
蛋白主名 其他名称

nucleobindin-1

关联疾病

疾病名称 别名
Chromosome 16p11.2 Duplication Syndrome

Proximal 16p11.2 Microduplication Syndrome

Proximal Dup(16)(P11.2)

Proximal Trisomy 16p11.2

Autism, Susceptibility To, 14b

Autism 14b

Spinal Ependymoma, Mycn-Amplified

Spinal Ependymoma, Mycn

Spinal Cord Ependymoma, Mycn Amplified

Intellectual Developmental Disorder, Autosomal Dominant 46

MRD46

Mental Retardation, Autosomal Dominant 46

Autosomal Dominant Mental Retardation 46

Autosomal Dominant Intellectual Developmental Disorder 46

Mental Retardation, Autosomal Dominant, Type 46

External Ear Disease

Diseases Of External Ear

Preauricular Cyst

Preauricular Sinus And Fistula

Preauricular Sinus Or Fistula

Otitis Externa

Swimmer'S Ear

Infective Otitis Externa

Acute Infective Otitis Externa

Erythema Infectiosum

Fifth Disease

Slapped Cheek Syndrome

Parvovirus B19 Infection

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Bos taurus NUCB1 VGNC VGNC:32318
Canis familiaris NUCB1 VGNC VGNC:53746
Rattus norvegicus NUCB1 RGD RGD:620030
Macaca mulatta NUCB1 VGNC VGNC:75548
Mus musculus NUCB1 MGD MGI:97388
Felis catus NUCB1 VGNC VGNC:68586