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Aliases for NUCB1 Gene

Aliases for NUCB1 Gene

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

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. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is NUCB2.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUCB1 Gene

Genomics for NUCB1 Gene

Regulatory Elements for NUCB1 Gene

Enhancers for NUCB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F048906 1.3 Ensembl ENCODE 21 +8.0 7985 3.1 MLX ARID4B DMAP1 ZNF48 YY1 ZNF121 ZNF766 SP5 MIER2 PPARG NUCB1 TULP2 NUCB1-AS1
GH19F048891 1.2 Ensembl ENCODE 22.3 -8.0 -8023 1.2 HDGF PKNOX1 ATF1 ARNT GATA2 JUNB TBX21 CREB3 MBD2 MEF2D NUCB1 GRWD1 AKT1S1 SNORD35A GC19M048876
GH19F048898 1.1 ENCODE 21.5 +0.2 192 3.8 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 PLEKHA4 TEAD2 NUCB1 TULP2 PRR12 KDELR1 ENSG00000268157 PIH1D1 ENSG00000197813 RRAS
GH19F048988 1.8 FANTOM5 Ensembl ENCODE 12.4 +92.0 92004 7.2 MLX CREB3L1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 GRWD1 TEAD2 NUP62 AKT1S1 KDELR1 ENSG00000268157 SNORD35A LOC101059948 PLEKHA4 PRR12
GH19F048958 1.7 FANTOM5 ENCODE 11.7 +64.0 63980 10.2 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC ENSG00000269321 NUP62 PRR12 TEAD2 PPP1R15A RUVBL2 KDELR1 PIH1D1 GRWD1 ENSG00000268157
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NUCB1 on UCSC Golden Path with GeneCards custom track

Promoters for NUCB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000045081 450 2201 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for NUCB1 Gene

Chromosome:
19
Start:
48,900,050 bp from pter
End:
48,923,372 bp from pter
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 Thr 42, Thr 47, Ser 93, Thr 148, Thr 160, Thr 162, Tyr 168, Ser 224, Ser 320, Thr 321, Ser 369, Thr 372, Ser 378, Thr 426, and Ser 444
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for NUCB1

No data available for DME Specific Peptides for NUCB1 Gene

Domains & Families for NUCB1 Gene

Gene Families for NUCB1 Gene

Protein Domains for NUCB1 Gene

Suggested Antigen Peptide Sequences for NUCB1 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 2 EF-hand domains.
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

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

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,TAS --
GO:0005509 calcium ion binding IEA --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
extracellular 5
endoplasmic reticulum 4
golgi apparatus 4
cytoskeleton 3
nucleus 3
endosome 2
plasma membrane 1
cytosol 1

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 IDA 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

SuperPathways for NUCB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NUCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 and SIGNOR curated interactions for NUCB1 Gene

Drugs & Compounds for NUCB1 Gene

(2) Drugs for NUCB1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with NUCB1: view

Transcripts for NUCB1 Gene

mRNA/cDNA for NUCB1 Gene

(2) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NUCB1 Gene

Nucleobindin 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with NUCB1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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 34 35
  • 95.73 (n)
dog
(Canis familiaris)
Mammalia NUCB1 34 35
  • 89.86 (n)
cow
(Bos Taurus)
Mammalia NUCB1 34 35
  • 89.51 (n)
mouse
(Mus musculus)
Mammalia Nucb1 34 16 35
  • 85.29 (n)
rat
(Rattus norvegicus)
Mammalia Nucb1 34
  • 85.15 (n)
oppossum
(Monodelphis domestica)
Mammalia NUCB1 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NUCB1 35
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUCB1 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nucb1 34
  • 69.02 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23574 34
zebrafish
(Danio rerio)
Actinopterygii nucb1 34 35
  • 65.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta NUCB1 35
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nucb-1 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6711 35
  • 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)

Paralogs for NUCB1 Gene

Paralogs for NUCB1 Gene

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

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 Sequence Context AA Info Type
rs10401443 -- 48,898,802(+) GAATG(A/C)CGTGT intron-variant, upstream-variant-2KB
rs10402713 -- 48,898,683(+) TTCCC(C/T)CTGGG intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs10403298 -- 48,906,211(+) GACTA(C/T)CTGGC intron-variant
rs10403434 -- 48,914,684(+) GCTCA(C/T)GTCTG intron-variant
rs10403687 -- 48,914,797(+) AAAAA(A/T)AGACC intron-variant

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

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

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)

Relevant External Links for NUCB1 Gene

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

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

Relevant External Links for NUCB1

Genetic Association Database (GAD)
NUCB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  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. (Biochem. Biophys. Res. Commun. 1992) 3 4 22 64
  3. A novel endoplasmic reticulum export signal: proline at the +2-position from the signal peptide cleavage site. (PMID: 19656946) Tsukumo Y. … Tomida A. (J. Biol. Chem. 2009) 3 22 64
  4. Modulation of nucleobindin-1 and nucleobindin-2 by caspases. (PMID: 18154733) Valencia C.A. … Liu R. (FEBS Lett. 2008) 3 22 64
  5. Nucleobindin co-localizes and associates with cyclooxygenase (COX)-2 in human neutrophils. (PMID: 18493301) Leclerc P. … Pouliot M. (PLoS ONE 2008) 3 22 64

Products for NUCB1 Gene

Sources for NUCB1 Gene

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