NUCB1 - nucleobindin 1 Gene

Also Known as NUC; CALNUC

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4924

About NUCB1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:48,900,312-48,923,372 (from NCBI)

This gene has 12 transcripts (splice variants), 191 orthologues and 1 paralogue. Ubiquitous expression in kidney (RPKM 89.1), fat (RPKM 86.3) and 25 other tissues.

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]

NUCB1 Products (1)

mRNA Protein Name
NM_006184.6 NP_006175.2 nucleobindin-1 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
24136289 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum-Golgi intermediate compartment IDA
IDA: Inferred from direct assay
15308636 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NUCB1 Protein Structure

EF-hand_7

EF-hand_7: EF-hand domain pair (247 - 319)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 461 a.a.
Protein Preferred Names Protein Names

nucleobindin-1

NUCB1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NUCB1 Q02818 NUCB2 Homo sapiens P80303 33961781
Cross
NUCB1 Q02818 Q99IB8-PRO_0000045603 Hepatitis C virus Q99IB8-PRO_0000045603 24136289
Cross
NUCB1 Q02818 Q99IB8-PRO_0000045603 Hepatitis C virus Q99IB8-PRO_0000045603 24136289
Cross
NUCB1 Q02818 Q99IB8-PRO_0000045603 Hepatitis C virus Q99IB8-PRO_0000045603
Y2H
24136289
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Chromosome 16p11.2 Duplication Syndrome
  • Proximal 16p11.2 Microduplication Syndrome

  • Proximal Dup(16)(P11.2)

  • Proximal Trisomy 16p11.2

  • Autism, Susceptibility To, 14b

  • Autism 14b

Spinal Ependymoma, Mycn-Amplified
  • Spinal Ependymoma, Mycn

  • Spinal Cord Ependymoma, Mycn Amplified

Intellectual Developmental Disorder, Autosomal Dominant 46
  • MRD46

  • Mental Retardation, Autosomal Dominant 46

  • Autosomal Dominant Mental Retardation 46

  • Autosomal Dominant Intellectual Developmental Disorder 46

  • Mental Retardation, Autosomal Dominant, Type 46

External Ear Disease
  • Diseases Of External Ear

  • Preauricular Cyst

  • Preauricular Sinus And Fistula

  • Preauricular Sinus Or Fistula

Otitis Externa
  • Swimmer'S Ear

  • Infective Otitis Externa

  • Acute Infective Otitis Externa

Erythema Infectiosum
  • Fifth Disease

  • Slapped Cheek Syndrome

  • Parvovirus B19 Infection

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus NUCB1 VGNC VGNC:32318
Canis familiaris NUCB1 VGNC VGNC:53746
Rattus norvegicus NUCB1 RGD RGD:620030
Macaca mulatta NUCB1 VGNC VGNC:75548
Mus musculus NUCB1 MGD MGI:97388
Felis catus NUCB1 VGNC VGNC:68586