1. Gene
  2. UPK3B - uroplakin 3B Gene

UPK3B - uroplakin 3B Gene

Homo sapiens

Also known as P35; UP3B; UPIIIB

Gene ID: 105375355 | Gene type: protein coding

About UPK3B

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:76,510,552-76,516,522 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 141 orthologues and 3 paralogues. Biased expression in lung (RPKM 16.8), urinary bladder (RPKM 3.5) and 2 other tissues.

Summary

UPK3B is a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b (UPK1B; MIM 602380), one of the major conserved urothelium membrane proteins. The other major conserved integral membrane proteins of urothelial plaques are UPK1A (MIM 611557), UPK2 (MIM 611558), and UPK3A (MIM 611559) (Deng et al., 2002 [PubMed 12446744]).[supplied by OMIM, Mar 2008]

UPK3B Products(4)

mRNA Protein Name
NM_001347684.2 NP_001334613.1 uroplakin-3b isoform d precursor
NM_030570.3 NP_085047.1 uroplakin-3b isoform a precursor
NM_182683.2 NP_872624.1 uroplakin-3b isoform c precursor
NM_182684.2 NP_872625.1 uroplakin-3b isoform b precursor
Gene Ontology
  • Biological Process
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
18776082 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
Protein Preferred Names Protein Names

uroplakin-3b

uroplakin IIIb

Related Diseases

Diseases Alias
Holocarboxylase Synthetase Deficiency

HLCS DEFICIENCY

Early-Onset Multiple Carboxylase Deficiency

Biotin- Ligase Deficiency

Neonatal Multiple Carboxylase Deficiency

Multiple Carboxylase Deficiency, Neonatal Form

Multiple Carboxylase Deficiency, Early Onset

Multiple Carboxylase Deficiency - Neonatal Onset

Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency

Early-Onset Combined Carboxylase Deficiency

Infantile Multiple Carboxylase Deficiency

Biotin-Responsive Mcd

Biotin-Responsive Multiple Carboxylase Deficiency

Early-Onset Mcd

Mcd Neonatal Form

Vesicoureteral Reflux

Vesico-Ureteral Reflux

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
Mus musculus UPK3B MGD MGI:2140882
Canis familiaris UPK3B VGNC VGNC:106616
Rattus norvegicus UPK3B RGD RGD:1309615
Felis catus UPK3B VGNC VGNC:107075
Bos taurus UPK3B VGNC VGNC:107016