NMNAT3 - nicotinamide nucleotide adenylyltransferase 3 Gene

Also Known as PNAT3; FKSG76; PNAT-3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 349565

About NMNAT3

Cytogenetic location: 3q23 Genomic coordinates (GRCh38): 3:139,560,180-139,678,050 (from NCBI)

This gene has 22 transcripts (splice variants), 195 orthologues and 2 paralogues. Broad expression in ovary (RPKM 2.3), testis (RPKM 2.2) and 24 other tissues.

Summary

This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These Enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

NMNAT3 Products (22)

mRNA Protein Name
NM_001200047.3 NP_001186976.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 2
NM_001320510.2 NP_001307439.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 3
NM_001320511.2 NP_001307440.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 4
NM_001320512.2 NP_001307441.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 4
NM_001320513.2 NP_001307442.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 5
NM_001363968.1 NP_001350897.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 6
NM_001401598.1 NP_001388527.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 3
NM_001401599.1 NP_001388528.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 3
NM_001401600.1 NP_001388529.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 4
NM_001401601.1 NP_001388530.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 4
NM_001401602.1 NP_001388531.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 4
NM_001401603.1 NP_001388532.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 4
NM_001401604.1 NP_001388533.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 1
NM_001401605.1 NP_001388534.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 7
NM_001401606.1 NP_001388535.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 7
NM_001401607.1 NP_001388536.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 6
NM_001401608.1 NP_001388537.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 6
NM_001401609.1 NP_001388538.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 8
NM_001401610.1 NP_001388539.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 8
NM_001401611.1 NP_001388540.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 8
NM_001401612.1 NP_001388541.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 8
NM_178177.5 NP_835471.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 isoform 1

NMNAT3 Protein Structure

CTP_transf_like

CTP_transf_like: Cytidylyltransferase-like (10 - 208)

  • 0
  • 100
  • 200
  • 252 a.a.
Protein Preferred Names Protein Names

nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3

  • NMN adenylyltransferase 3

Related Diseases

Diseases Alias
Leber Congenital Amaurosis 9
  • LCA9

  • Leber Congenital Amaurosis, Type 9

Leber Plus Disease
  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber

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
Macaca mulatta NMNAT3 VGNC VGNC:75224
Mus musculus NMNAT3 MGD MGI:1921330
Rattus norvegicus NMNAT3 RGD RGD:1309140
Canis familiaris NMNAT3 VGNC VGNC:43864
Others NMNAT3 NCBI