UAP1 - UDP-N-acetylglucosamine pyrophosphorylase 1 Gene

Also Known as AGX; AGX1; AGX2; SPAG2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6675

About UAP1

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:162,561,531-162,601,240 (from NCBI)

This gene has 5 transcripts (splice variants), 215 orthologues and 2 paralogues. Broad expression in testis (RPKM 52.4), liver (RPKM 41.2) and 25 other tissues.

Summary

Enables identical protein binding activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

UAP1 Products (12)

mRNA Protein Name
NM_001324113.2 NP_001311042.1 UDP-N-acetylhexosamine pyrophosphorylase isoform a
NM_001324114.2 NP_001311043.1 UDP-N-acetylhexosamine pyrophosphorylase isoform a
NM_001324115.3 NP_001311044.1 UDP-N-acetylhexosamine pyrophosphorylase isoform a
NM_001324116.5 NP_001311045.1 UDP-N-acetylhexosamine pyrophosphorylase isoform b
NM_001324117.3 NP_001311046.1 UDP-N-acetylhexosamine pyrophosphorylase isoform c
NM_001388401.1 NP_001375330.1 UDP-N-acetylhexosamine pyrophosphorylase isoform b
NM_001388402.1 NP_001375331.1 UDP-N-acetylhexosamine pyrophosphorylase isoform b
NM_001399790.1 NP_001386719.1 UDP-N-acetylhexosamine pyrophosphorylase isoform a
NM_001399791.1 NP_001386720.1 UDP-N-acetylhexosamine pyrophosphorylase isoform b
NM_001399792.1 NP_001386721.1 UDP-N-acetylhexosamine pyrophosphorylase isoform d
NM_001399793.1 NP_001386722.1 UDP-N-acetylhexosamine pyrophosphorylase isoform e
NM_003115.6 NP_003106.3 UDP-N-acetylhexosamine pyrophosphorylase isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables protein serine pyrophosphorylase activity IDA
IDA: Inferred from direct assay
36603579 GOA
Biological Process GO Annotation Evidence References Source
involved in antiviral innate immune response IDA
IDA: Inferred from direct assay
36603579 GOA
involved in positive regulation of type I interferon production IDA
IDA: Inferred from direct assay
36603579 GOA
Cellular Component GO Annotation Evidence References Source
is active in cytosol IDA
IDA: Inferred from direct assay
8025165 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

UAP1 Protein Structure

UDPGP

UDPGP: UTP--glucose-1-phosphate uridylyltransferase (44 - 472)

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

UDP-N-acetylhexosamine pyrophosphorylase

  • UDP-N-acetylglucosamine diphosphorylase 1

UAP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
UAP1 Q16222 UAP1 Homo sapiens Q16222
Y2H Array
25416956
Intra
UAP1 Q16222 UAP1 Homo sapiens Q16222
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant UAP1 Proteins

Cat. No. Product Name Accession Purity
HY-P71817 UAP1 Protein, Human (P.pastoris, His) Q16222 (M1-I522) ≥ 90%, as determined by reducing SDS-PAGE.

UAP1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82520 UAP1 Antibody (YA2265) WB, IHC-P, ICC/IF, IP, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 109

  • DFNB109

  • Autosomal Recessive Nonsyndromic Deafness 109

  • Autosomal Recessive Deafness 109

  • Deafness, Autosomal Recessive, 109
Galactosemia I

  • Galactosemia

  • Galt Deficiency

  • Classic Galactosemia

  • Galactose-1-Phosphate Uridylyltransferase Deficiency

  • Galactose-1-Phosphate Uridyltransferase Deficiency

  • GALAC1

  • Galactosemia, Classic

  • Galactosemia Type 1

  • Galactosemias

  • Classical Galactosemia

  • Galactosaemia

  • Galactose Intolerance

  • Epimerase Deficiency Galactosemia

  • Galactokinase Deficiency Disease

  • Galactose Epimerase Deficiency

  • Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

  • Gale Deficiency

  • Galk Deficiency

  • Udp-Galactose-4-Epimerase Deficiency Disease

  • Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

  • Galactosemia 1

  • Galactosemia, Duarte Variant

  • Deficiency Of Galactokinase

  • Udpglucose 4-Epimerase Deficiency Disease

  • Classical Galactosaemia

  • Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency

  • Classic Galactosaemia

  • Deficiency Of Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Galactose-1-Phosphate Uridylyltransferase

  • Galactose-1-Phosphate Uridyl Transferase Deficiency

  • Transferase Deficiency Galactosemia

  • Deficiency Of Uridyl Transferase

  • Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase

  • Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
Galactosemia Iii

  • Galactose Epimerase Deficiency

  • Gale Deficiency

  • Udp-Galactose-4-Epimerase Deficiency

  • Epimerase Deficiency Galactosemia

  • Galactosemia Type 3

  • Gale-D

  • Uridine Diphosphate Galactose-4-Epimerase Deficiency

  • GALAC3

  • Galactosemia 3

  • Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency

  • Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency

  • Galactosemia Type Iii

  • Udp-Galactose-4'-Epimerase Deficiency

  • Generalized Galactose Epimerase Deficiency

  • Generalized Gale Deficiency

  • Generalized Gale-D

  • Generalized Udp-Galactose-4-Epimerase Deficiency

  • Generalized Epimerase Deficiency Galactosemia

  • Erythrocyte Galactose Epimerase Deficiency

  • Erythrocyte Gale Deficiency

  • Erythrocyte Gale-D

  • Erythrocyte Udp-Galactose-4-Epimerase Deficiency

  • Erythrocyte Epimerase Deficiency Galactosemia

  • Galactosemias

  • Classical Galactosemia

  • Udpglucose 4-Epimerase Deficiency Disease
Dystonia 16

  • DYT16

  • Dyt-Prkra

  • Dystonia-16

  • Young-Onset Dystonia-

  • Early-Onset Dystonia Parkinsonism

  • Dystonia, Type 16
Armfield Syndrome

  • X-Linked Intellectual Disability, Armfield Type

  • Armfield X-Linked Mental Retardation Syndrome

  • Mental Retardation Syndrome, X-Linked, Armfield Type

  • Mrxsa

  • Syndromic X-Linked Mental Retardation Armfield Type
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15317 UAP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS15318 UAP1L1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-183675 SfUAP-IN-1 / Unkown
HY-RS18979 Uap1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25468 Uap1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus UAP1 VGNC VGNC:36559
Rattus norvegicus UAP1 RGD RGD:1561967
Canis familiaris UAP1 VGNC VGNC:48035
Mus musculus UAP1 MGD MGI:1334459
Felis catus UAP1 VGNC VGNC:66744
Macaca mulatta UAP1 VGNC VGNC:78685
Others UAP1 NCBI