NUCB1 - nucleobindin 1 Gene

Homo sapiens

Also known as NUC; CALNUC

Gene ID: 4924 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24136289	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum-Golgi intermediate compartment	IDA IDA: Inferred from direct assay	15308636	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NUCB1 Protein Structure

EF-hand_7

0
100
200
300
400
461 a.a.

Protein Preferred Names

Protein Names

nucleobindin-1

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-118319	MJN228	Inhibitor	99.30%	Unkown
HY-RS09654	NUCB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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