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] See more...

Aliases for NUCB1 Gene

Aliases for NUCB1 Gene

  • Nucleobindin 1 2 3 5
  • Nucleobindin-1 3 4
  • CALNUC 3 4
  • NUC 3 4

External Ids for NUCB1 Gene

Previous GeneCards Identifiers for NUCB1 Gene

  • GC19P050062
  • GC19P049772
  • GC19P054079
  • GC19P054095
  • GC19P049403
  • GC19P045779

Summaries for NUCB1 Gene

Entrez Gene Summary for NUCB1 Gene

  • 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]

GeneCards Summary for NUCB1 Gene

NUCB1 (Nucleobindin 1) is a Protein Coding gene. Diseases associated with NUCB1 include Immature Cataract. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is NUCB2.

UniProtKB/Swiss-Prot Summary for NUCB1 Gene

  • Major calcium-binding protein of the Golgi. May have a role in calcium homeostasis (By similarity).

Gene Wiki entry for NUCB1 Gene

Additional gene information for NUCB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUCB1 Gene

Genomics for NUCB1 Gene

GeneHancer (GH) Regulatory Elements for NUCB1 Gene

Promoters and enhancers for NUCB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUCB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NUCB1 gene promoter:
  • AP-1
  • AREB6
  • ARP-1
  • COMP1
  • CUTL1
  • Ik-2
  • SEF-1 (1)
  • STAT1
  • STAT5A

Genomic Locations for NUCB1 Gene

Genomic Locations for NUCB1 Gene
chr19:48,900,050-48,923,372
(GRCh38/hg38)
Size:
23,323 bases
Orientation:
Plus strand
chr19:49,403,307-49,426,629
(GRCh37/hg19)
Size:
23,323 bases
Orientation:
Plus strand

Genomic View for NUCB1 Gene

Genes around NUCB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUCB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUCB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUCB1 Gene

Proteins for NUCB1 Gene

  • Protein details for NUCB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02818-NUCB1_HUMAN
    Recommended name:
    Nucleobindin-1
    Protein Accession:
    Q02818
    Secondary Accessions:
    • B2RD64
    • Q15838
    • Q7Z4J7
    • Q9BUR1

    Protein attributes for NUCB1 Gene

    Size:
    461 amino acids
    Molecular mass:
    53879 Da
    Quaternary structure:
    • Interacts with GNAI2 and GNAI3.
    Miscellaneous:
    • Discovered as DNA-binding protein in the serum of lupus-prone mice.

    Three dimensional structures from OCA and Proteopedia for NUCB1 Gene

neXtProt entry for NUCB1 Gene

Post-translational modifications for NUCB1 Gene

  • O-glycosylated.
  • Glycosylation at Thr39, Thr42, Ser44, Thr47, Tyr50, Ser93, Thr148, Thr160, Thr162, Tyr168, Ser224, Thr313, Ser320, Thr321, Ser369, Thr372, Ser378, Thr426, and Ser444
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NUCB1 Gene

Domains & Families for NUCB1 Gene

Gene Families for NUCB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for NUCB1 Gene

Suggested Antigen Peptide Sequences for NUCB1 Gene

GenScript: Design optimal peptide antigens:
  • CALNUC (NUCB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q02818

UniProtKB/Swiss-Prot:

NUCB1_HUMAN :
  • The EF-hand domains are unfolded in the absence of Ca(2+) and fold upon Ca(2+) addition.
  • Belongs to the nucleobindin family.
Domain:
  • The EF-hand domains are unfolded in the absence of Ca(2+) and fold upon Ca(2+) addition.
Family:
  • Belongs to the nucleobindin family.
genes like me logo Genes that share domains with NUCB1: view

Function for NUCB1 Gene

Molecular function for NUCB1 Gene

UniProtKB/Swiss-Prot Function:
Major calcium-binding protein of the Golgi. May have a role in calcium homeostasis (By similarity).
GENATLAS Biochemistry:
nucleobindin,55kDa,ubiquitously expressed,homolog of a secreted protein promoting production of DNA-specific antibodies in lupus-prone MRL/lpr mouse

Phenotypes From GWAS Catalog for NUCB1 Gene

Gene Ontology (GO) - Molecular Function for NUCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001965 G-protein alpha-subunit binding IEA --
GO:0003677 DNA binding IEA --
GO:0005509 calcium ion binding IEA,IBA 21873635
GO:0005515 protein binding IPI 24136289
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NUCB1: view
genes like me logo Genes that share phenotypes with NUCB1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NUCB1

CRISPR Products

miRNA for NUCB1 Gene

miRTarBase miRNAs that target NUCB1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NUCB1 Gene

Localization for NUCB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUCB1 Gene

Golgi apparatus, cis-Golgi network membrane; Peripheral membrane protein; Lumenal side. Cytoplasm. Secreted. Note=A small fraction of the protein may be cytoplasmic. {ECO:0000250 UniProtKB:Q63083}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUCB1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 4
nucleus 3
extracellular 2
cytoskeleton 2
endosome 2
plasma membrane 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Microtubules (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NUCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space HDA,TAS 16502470
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005769 early endosome IEA --
genes like me logo Genes that share ontologies with NUCB1: view

Pathways & Interactions for NUCB1 Gene

PathCards logo

SuperPathways for NUCB1 Gene

No Data Available

SIGNOR curated interactions for NUCB1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NUCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
GO:0072718 response to cisplatin IEA --
GO:1903533 regulation of protein targeting IEA --
genes like me logo Genes that share ontologies with NUCB1: view

No data available for Pathways by source for NUCB1 Gene

Drugs & Compounds for NUCB1 Gene

(7) Drugs for NUCB1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773
Calcium Citrate Approved, Investigational Pharma Target, ligand 0
Calcium Phosphate Approved Pharma Target, ligand 0
Calcium phosphate dihydrate Approved Pharma Target 0
S,S-Propylthiocysteine Experimental Pharma Target 0
genes like me logo Genes that share compounds with NUCB1: view

Transcripts for NUCB1 Gene

mRNA/cDNA for NUCB1 Gene

(1) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NUCB1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c ^ 12 ^
SP1: - - -
SP2: - - -
SP3: - -
SP4: - -
SP5: - - -
SP6: - - - -
SP7:
SP8:
SP9:

ExUns: 13a · 13b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for NUCB1 Gene

GeneLoc Exon Structure for
NUCB1
ECgene alternative splicing isoforms for
NUCB1

Expression for NUCB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NUCB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NUCB1 Gene

This gene is overexpressed in Lavage (13.5) and Amniocyte (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUCB1 Gene



NURSA nuclear receptor signaling pathways regulating expression of NUCB1 Gene:

NUCB1

SOURCE GeneReport for Unigene cluster for NUCB1 Gene:

Hs.631602

mRNA Expression by UniProt/SwissProt for NUCB1 Gene:

Q02818-NUCB1_HUMAN
Tissue specificity: Expressed both in fetal and adult heart, lung, liver, kidney and brain, and in adult skeletal muscle, placenta and pancreas.

Evidence on tissue expression from TISSUES for NUCB1 Gene

  • Nervous system(4.9)
  • Lung(4.8)
  • Liver(4.7)
  • Blood(4.6)
  • Kidney(4.3)
  • Intestine(3.7)
  • Spleen(3.7)
  • Skin(3.6)
  • Muscle(3)
  • Heart(2.5)
  • Eye(2.2)
  • Stomach(2.1)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with NUCB1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUCB1 Gene

Orthologs for NUCB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NUCB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUCB1 33 32
  • 95.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NUCB1 33 32
  • 89.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NUCB1 33 32
  • 89.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nucb1 17 33 32
  • 85.29 (n)
rat
(Rattus norvegicus)
Mammalia Nucb1 32
  • 85.15 (n)
oppossum
(Monodelphis domestica)
Mammalia NUCB1 33
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NUCB1 33
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUCB1 33
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nucb1 32
  • 69.02 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23574 32
zebrafish
(Danio rerio)
Actinopterygii nucb1 33 32
  • 65.49 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta NUCB1 33
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nucb-1 33
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6711 33
  • 35 (a)
OneToMany
Species where no ortholog for NUCB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NUCB1 Gene

ENSEMBL:
Gene Tree for NUCB1 (if available)
TreeFam:
Gene Tree for NUCB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUCB1: view image

Paralogs for NUCB1 Gene

Paralogs for NUCB1 Gene

(2) SIMAP similar genes for NUCB1 Gene using alignment to 6 proteins:

  • NUCB1_HUMAN
  • C9J3C1_HUMAN
  • C9JBD3_HUMAN
  • C9JKZ2_HUMAN
  • F8WB20_HUMAN
  • H7BZI1_HUMAN
genes like me logo Genes that share paralogs with NUCB1: view

Variants for NUCB1 Gene

Sequence variations from dbSNP and Humsavar for NUCB1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000120641 -- 48,906,933(+) A/G intron_variant
rs1000274457 -- 48,909,067(+) A/G intron_variant
rs1000291273 -- 48,921,602(+) C/G intron_variant
rs1000424785 -- 48,908,880(+) G/A intron_variant
rs1000491747 -- 48,916,047(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NUCB1 Gene

Variant ID Type Subtype PubMed ID
esv2670526 CNV deletion 23128226
esv3644606 CNV loss 21293372
nsv138250 CNV deletion 16902084
nsv470148 CNV gain 18288195
nsv518164 CNV loss 19592680
nsv833855 CNV loss 17160897
nsv833856 CNV loss 17160897
nsv833857 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for NUCB1 Gene

Residual Variation Intolerance Score: 85.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.63; 45.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUCB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUCB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUCB1 Gene

Disorders for NUCB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NUCB1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
immature cataract
  • incipient cataract
- elite association - COSMIC cancer census association via MalaCards
Search NUCB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NUCB1

genes like me logo Genes that share disorders with NUCB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NUCB1 Gene

Publications for NUCB1 Gene

  1. Organization of the human gene for nucleobindin (NUC) and its chromosomal assignment to 19q13.2-q13.4. (PMID: 8661046) Miura K … Kurosawa Y (Genomics 1996) 2 3 4 23 56
  2. Molecular cloning of nucleobindin, a novel DNA-binding protein that contains both a signal peptide and a leucine zipper structure. (PMID: 1520323) Miura K … Kanai Y (Biochemical and biophysical research communications 1992) 3 4 23 56
  3. A novel endoplasmic reticulum export signal: proline at the +2-position from the signal peptide cleavage site. (PMID: 19656946) Tsukumo Y … Tomida A (The Journal of biological chemistry 2009) 3 23 56
  4. Nucleobindin co-localizes and associates with cyclooxygenase (COX)-2 in human neutrophils. (PMID: 18493301) Leclerc P … Pouliot M (PloS one 2008) 3 23 56
  5. Modulation of nucleobindin-1 and nucleobindin-2 by caspases. (PMID: 18154733) Valencia CA … Liu R (FEBS letters 2008) 3 23 56

Products for NUCB1 Gene

Sources for NUCB1 Gene