NUCB1 nucleobindin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUCB1provided by HGNC
Official Full Name: nucleobindin 1provided by HGNC
Primary source: HGNC:HGNC:8043
See related: Ensembl:ENSG00000104805 MIM:601323; AllianceGenome:HGNC:8043
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NUC; CALNUC
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]
Expression: Ubiquitous expression in kidney (RPKM 89.1), fat (RPKM 86.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (48900312..48923372)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (51895140..51918232)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49403569..49426629)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression and correlation of COX-2 and NUCB1 in colorectal adenocarcinoma.
Title: Expression and correlation of COX-2 and NUCB1 in colorectal adenocarcinoma.
Aberrant environment and PS-binding to calnuc C-terminal tail drives exosomal packaging and its metastatic ability.
Title: Aberrant environment and PS-binding to calnuc C-terminal tail drives exosomal packaging and its metastatic ability.
A Change in Domain Cooperativity Drives the Function of Calnuc.
Title: A Change in Domain Cooperativity Drives the Function of Calnuc.
Nucleobindin-1 regulates ECM degradation by promoting intra-Golgi trafficking of MMPs.
Title: Nucleobindin-1 regulates ECM degradation by promoting intra-Golgi trafficking of MMPs.
post gene duplication, Nucb1 has emerged as unconventional Ca(2+)-binding transcriptional regulators that can induce Epithelial-to-Mesenchymal transition.
Title: Molecular evolution guided functional analyses reveals Nucleobindin-1 as a canonical E-box binding protein promoting Epithelial-to-Mesenchymal transition (EMT).
blood levels of nesfatin-1 are associated with binge eating
Title: Association of Nesfatin-1, Acylated Ghrelin and Cortisol with Scores of Compulsion, Food Addiction, and Binge Eating in Adults with Normal Weight and with Obesity.
Data suggest that calnuc (nucleobindin 1) is possibly involved in controlling protein unfolding diseases, such as Alzheimer's disease (AD), Parkinson's disease (PD), prion disease, and type II diabetes.
Title: Chaperone-like Activity of Calnuc Prevents Amyloid Aggregation.
Calnuc depletion causes the misdelivery to and degradation in lysosomes of cationic-independent mannose-6-phosphate receptor and Sortilin .
Title: Calnuc Function in Endosomal Sorting of Lysosomal Receptors.
nesfatin-1 has a role in thyroid dysfunction in patients with T2DM
Title: Decreased plasma nesfatin-1 level is related to the thyroid dysfunction in patients with type 2 diabetes mellitus.
The serine protease activity of calnuc is allosterically regulated by Zn2+ binding and its interaction with G protein alpha subunit.
Title: Serine protease activity of calnuc: regulation by Zn2+ and G proteins.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S616E (e-PCR)
- UniSTS:150543

G32696 (e-PCR)
- UniSTS:117278

RH80298 (e-PCR)
- UniSTS:83779

SHGC-110859 (e-PCR)
- UniSTS:168050

RH102565 (e-PCR)
- UniSTS:96899

G64281 (e-PCR)
- UniSTS:158661

RH36573 (e-PCR)
- UniSTS:42971

b05503rbk (e-PCR)
- UniSTS:96240

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables G-protein alpha-subunit binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in small GTPase-mediated signal transduction	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum-Golgi intermediate compartment	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: nucleobindin-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_006184.6 → NP_006175.2 nucleobindin-1 precursor

See identical proteins and their annotated locations for NP_006175.2

Status: REVIEWED

Source sequence(s)

AC026803, AI208532, AK315422

Consensus CDS

CCDS12740.1

UniProtKB/Swiss-Prot

B2RD64, Q02818, Q15838, Q7Z4J7, Q9BUR1

UniProtKB/TrEMBL

Q53GX6

Related

ENSP00000385923.3, ENST00000405315.9

Conserved Domains (1) summary

pfam13499
Location:246 → 319

EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

48900312..48923372

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017026845.2 → XP_016882334.1 nucleobindin-1 isoform X1

UniProtKB/Swiss-Prot

B2RD64, Q02818, Q15838, Q7Z4J7, Q9BUR1

UniProtKB/TrEMBL

Q53GX6

Related

ENSP00000410519.2, ENST00000411700.6

Conserved Domains (1) summary

pfam13499
Location:246 → 319

EF-hand_7; EF-hand domain pair