Human Gene NUCB1 (ENST00000405315.9) from GENCODE V44
  Description: Homo sapiens nucleobindin 1 (NUCB1), mRNA. (from RefSeq NM_006184)
RefSeq Summary (NM_006184): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000405315.9
Gencode Gene: ENSG00000104805.17
Transcript (Including UTRs)
   Position: hg38 chr19:48,900,312-48,923,372 Size: 23,061 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr19:48,900,797-48,922,424 Size: 21,628 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:48,900,312-48,923,372)mRNA (may differ from genome)Protein (461 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NUCB1_HUMAN
DESCRIPTION: RecName: Full=Nucleobindin-1; AltName: Full=CALNUC; Flags: Precursor;
FUNCTION: Major calcium-binding protein of the Golgi. May have a role in calcium homeostasis (By similarity).
SUBUNIT: Interacts with GNAI2 and GNAI3.
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network membrane; Peripheral membrane protein; Lumenal side (By similarity). Cytoplasm (By similarity). Note=A small fraction of the protein may be cytoplasmic (By similarity).
TISSUE SPECIFICITY: Expressed both in fetal and adult heart, lung, liver, kidney and brain, and in adult skeletal muscle, placenta and pancreas.
DOMAIN: The EF-hand domains are unfolded in the absence of Ca(2+) and fold upon Ca(2+) addition.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
MISCELLANEOUS: Discovered as DNA-binding protein in the serum of lupus-prone mice.
SIMILARITY: Belongs to the nucleobindin family.
SIMILARITY: Contains 2 EF-hand domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NUCB1
Diseases sorted by gene-association score: immature cataract (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 145.89 RPKM in Artery - Aorta
Total median expression: 3814.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.5072-0.257 Picture PostScript Text
3' UTR -354.70948-0.374 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1SNL - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q02818
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001965 G-protein alpha-subunit binding
GO:0003677 DNA binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0072718 response to cisplatin
GO:1903533 regulation of protein targeting

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005769 early endosome
GO:0005788 endoplasmic reticulum lumen
GO:0005791 rough endoplasmic reticulum
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0005798 Golgi-associated vesicle
GO:0005801 cis-Golgi network
GO:0005802 trans-Golgi network
GO:0016020 membrane
GO:0032580 Golgi cisterna membrane
GO:0070062 extracellular exosome
GO:0090498 extrinsic component of Golgi membrane
GO:0098547 lumenal side of Golgi membrane


-  Descriptions from all associated GenBank mRNAs
  AK292066 - Homo sapiens cDNA FLJ77770 complete cds, highly similar to Homo sapiens nucleobindin 1 (NUCB1), mRNA.
LF384269 - JP 2014500723-A/191772: Polycomb-Associated Non-Coding RNAs.
MA619846 - JP 2018138019-A/191772: Polycomb-Associated Non-Coding RNAs.
AK315422 - Homo sapiens cDNA, FLJ96477, Homo sapiens nucleobindin 1 (NUCB1), mRNA.
BX647718 - Homo sapiens mRNA; cDNA DKFZp686A15286 (from clone DKFZp686A15286).
AK303126 - Homo sapiens cDNA FLJ52898 complete cds, highly similar to Nucleobindin-1 precursor.
LF367870 - JP 2014500723-A/175373: Polycomb-Associated Non-Coding RNAs.
MA603447 - JP 2018138019-A/175373: Polycomb-Associated Non-Coding RNAs.
AK222805 - Homo sapiens mRNA for nucleobindin 1 variant, clone: HEP02888.
M96824 - Human nucleobindin precursor mRNA, complete cds.
BX647291 - Homo sapiens mRNA; cDNA DKFZp781B0736 (from clone DKFZp781B0736).
E04318 - cDNA encoding human lupus accelerating DNA binding protein,LAD.
E06624 - DNA encoding a peptide that accelerate to produce anti-DNA antibody of human.
BC002356 - Homo sapiens nucleobindin 1, mRNA (cDNA clone MGC:8479 IMAGE:2821805), complete cds.
AB527785 - Synthetic construct DNA, clone: pF1KB5861, Homo sapiens NUCB1 gene for nucleobindin 1, without stop codon, in Flexi system.
BT009828 - Homo sapiens nucleobindin 1 mRNA, complete cds.
LF367867 - JP 2014500723-A/175370: Polycomb-Associated Non-Coding RNAs.
MA603444 - JP 2018138019-A/175370: Polycomb-Associated Non-Coding RNAs.
AK025458 - Homo sapiens cDNA: FLJ21805 fis, clone HEP00808, highly similar to HUMNUCLEOB Human nucleobindin precursor mRNA.
LF367865 - JP 2014500723-A/175368: Polycomb-Associated Non-Coding RNAs.
MA603442 - JP 2018138019-A/175368: Polycomb-Associated Non-Coding RNAs.
LF367863 - JP 2014500723-A/175366: Polycomb-Associated Non-Coding RNAs.
MA603440 - JP 2018138019-A/175366: Polycomb-Associated Non-Coding RNAs.
LF367862 - JP 2014500723-A/175365: Polycomb-Associated Non-Coding RNAs.
MA603439 - JP 2018138019-A/175365: Polycomb-Associated Non-Coding RNAs.
BC015787 - Homo sapiens nucleobindin 1, mRNA (cDNA clone IMAGE:4861852), complete cds.
AK097790 - Homo sapiens cDNA FLJ40471 fis, clone TESTI2042508, highly similar to Nucleobindin-1 precursor.
LF367859 - JP 2014500723-A/175362: Polycomb-Associated Non-Coding RNAs.
MA603436 - JP 2018138019-A/175362: Polycomb-Associated Non-Coding RNAs.
U92978 - Homo sapiens clone DT1P1A2 mRNA, CAG repeat region.
CU677443 - Synthetic construct Homo sapiens gateway clone IMAGE:100020616 5' read NUCB1 mRNA.
KJ901611 - Synthetic construct Homo sapiens clone ccsbBroadEn_11005 NUCB1 gene, encodes complete protein.
LF367856 - JP 2014500723-A/175359: Polycomb-Associated Non-Coding RNAs.
MA603433 - JP 2018138019-A/175359: Polycomb-Associated Non-Coding RNAs.
LF367855 - JP 2014500723-A/175358: Polycomb-Associated Non-Coding RNAs.
MA603432 - JP 2018138019-A/175358: Polycomb-Associated Non-Coding RNAs.
LF367854 - JP 2014500723-A/175357: Polycomb-Associated Non-Coding RNAs.
MA603431 - JP 2018138019-A/175357: Polycomb-Associated Non-Coding RNAs.
LF367852 - JP 2014500723-A/175355: Polycomb-Associated Non-Coding RNAs.
MA603429 - JP 2018138019-A/175355: Polycomb-Associated Non-Coding RNAs.
JD547410 - Sequence 528434 from Patent EP1572962.
LP886338 - Sequence 230 from Patent WO2017201352.
LP978095 - Sequence 230 from Patent WO2017120612.
JD123676 - Sequence 104700 from Patent EP1572962.
JD546859 - Sequence 527883 from Patent EP1572962.
JD484955 - Sequence 465979 from Patent EP1572962.
JD188336 - Sequence 169360 from Patent EP1572962.
JD427447 - Sequence 408471 from Patent EP1572962.
JD128763 - Sequence 109787 from Patent EP1572962.
JD020186 - Sequence 1210 from Patent EP1572962.
JD035997 - Sequence 17021 from Patent EP1572962.
JD021703 - Sequence 2727 from Patent EP1572962.
LF367850 - JP 2014500723-A/175353: Polycomb-Associated Non-Coding RNAs.
MA603427 - JP 2018138019-A/175353: Polycomb-Associated Non-Coding RNAs.
JD470720 - Sequence 451744 from Patent EP1572962.
JD036227 - Sequence 17251 from Patent EP1572962.
JD392392 - Sequence 373416 from Patent EP1572962.
JD352655 - Sequence 333679 from Patent EP1572962.
JD351632 - Sequence 332656 from Patent EP1572962.
JD405351 - Sequence 386375 from Patent EP1572962.
JD255404 - Sequence 236428 from Patent EP1572962.
JD391249 - Sequence 372273 from Patent EP1572962.
JD444364 - Sequence 425388 from Patent EP1572962.
JD353624 - Sequence 334648 from Patent EP1572962.
JD335927 - Sequence 316951 from Patent EP1572962.
LF367848 - JP 2014500723-A/175351: Polycomb-Associated Non-Coding RNAs.
MA603425 - JP 2018138019-A/175351: Polycomb-Associated Non-Coding RNAs.
JD060190 - Sequence 41214 from Patent EP1572962.
JD400241 - Sequence 381265 from Patent EP1572962.
MB419117 - JP 2019519516-A/79: MRNA COMBINATION THERAPIES FOR THE TREATMENT OF CANCER.
MB419982 - JP 2019519516-A/944: MRNA COMBINATION THERAPIES FOR THE TREATMENT OF CANCER.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q02818 (Reactome details) participates in the following event(s):

R-HSA-8952289 FAM20C phosphorylates FAM20C substrates
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification

-  Other Names for This Gene
  Alternate Gene Symbols: B2RD64, ENST00000405315.1, ENST00000405315.2, ENST00000405315.3, ENST00000405315.4, ENST00000405315.5, ENST00000405315.6, ENST00000405315.7, ENST00000405315.8, NM_006184, NUC, NUCB1_HUMAN, Q02818, Q15838, Q7Z4J7, Q9BUR1, uc002plb.1, uc002plb.2, uc002plb.3, uc002plb.4, uc002plb.5, uc002plb.6
UCSC ID: ENST00000405315.9
RefSeq Accession: NM_006184
Protein: Q02818 (aka NUCB1_HUMAN or NCB1_HUMAN)
CCDS: CCDS12740.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.