• Gene id: 4924

Gene Summary

• Gene Symbol: NUCB1   Gene   UCSC   Ensembl
• Aliases: CALNUC, NUC
• Gene name: nucleobindin 1
• Alternate names: nucleobindin-1,
• Gene location: 19q13.33 (48900311: 48923371)     Exons: 13     NC_000019.10
• Gene summary(Entrez): 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]
• OMIM: 613288

Protein Summary

• Protein general information: Q02818  
  • Name: Nucleobindin 1 (CALNUC)
  • Length: 461  
  • Mass: 53879
  • Tissue specificity: Expressed both in fetal and adult heart, lung, liver, kidney and brain, and in adult skeletal muscle, placenta and pancreas.
• Sequence:

  MPPSGPRGTLLLLPLLLLLLLRAVLAVPLERGAPNKEETPATESPDTGLYYHRYLQEVIDVLETDGHFREKLQAA
  NAEDIKSGKLSRELDFVSHHVRTKLDELKRQEVSRLRMLLKAKMDAEQDPNVQVDHLNLLKQFEHLDPQNQHTFE
  ARDLELLIQTATRDLAQYDAAHHEEFKRYEMLKEHERRRYLESLGEEQRKEAERKLEEQQRRHREHPKVNVPGSQ
  AQLKEVWEELDGLDPNRFNPKTFFILHDINSDGVLDEQELEALFTKELEKVYDPKNEEDDMREMEEERLRMREHV
  MKNVDTNQDRLVTLEEFLASTQRKEFGDTGEGWETVEMHPAYTEEELRRFEEELAAREAELNAKAQRLSQETEAL
  GRSQGRLEAQKRELQQAVLHMEQRKQQQQQQQGHKAPAAHPEGQLKFHPDTDDVPVPAPAGDQKEVDTSEKKLLE
  RLPEVEVPQHL

• Structural information:
  • Protein Domains: (240..27-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (292..32-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR040253  IPR040250  
  • Prosite: PS00018 PS50222
  • PDB: 1SNL
  • PDBsum: 1SNL
  • STRING: ENSP00000385923
• Other Databases: GeneCards:  NUCB1  Malacards:  NUCB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1903533	regulation of protein targeting	IEA	biological process
GO:0098547	lumenal side of Golgi membrane	IEA	cellular component
GO:0072718	response to cisplatin	IEA	biological process
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0005801	cis-Golgi network	IEA	cellular component
GO:0005798	Golgi-associated vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0090498	extrinsic component of Golgi membrane	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0001965	G-protein alpha-subunit binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0001965	G-protein alpha-subunit binding	ISS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0007264	small GTPase mediated signal transduction	ISS	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	ISS	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq