NMNAT1 nicotinamide nucleotide adenylyltransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NMNAT1provided by HGNC
Official Full Name: nicotinamide nucleotide adenylyltransferase 1provided by HGNC
Primary source: HGNC:HGNC:17877
See related: Ensembl:ENSG00000173614 MIM:608700; AllianceGenome:HGNC:17877
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LCA9; NMNAT; PNAT1; SHILCA
Summary: This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]
Expression: Ubiquitous expression in colon (RPKM 3.7), kidney (RPKM 3.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (9942923..9996892)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (9485828..9539839)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (10002981..10045556)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NMNAT1 Is Essential for Human iPS Cell Differentiation to the Retinal Lineage.
Title: NMNAT1 Is Essential for Human iPS Cell Differentiation to the Retinal Lineage.
Lactate enhances NMNAT1 lactylation to sustain nuclear NAD[+] salvage pathway and promote survival of pancreatic adenocarcinoma cells under glucose-deprived conditions.
Title: Lactate enhances NMNAT1 lactylation to sustain nuclear NAD(+) salvage pathway and promote survival of pancreatic adenocarcinoma cells under glucose-deprived conditions.
NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants.
Title: NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants.
Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.
Title: Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.
Nuclear NAD(+) homeostasis governed by NMNAT1 prevents apoptosis of acute myeloid leukemia stem cells.
Title: Nuclear NAD(+) homeostasis governed by NMNAT1 prevents apoptosis of acute myeloid leukemia stem cells.
Coats-like Exudative Vitreoretinopathy in NMNAT1 Leber Congenital Amaurosis.
Title: Coats-like Exudative Vitreoretinopathy in NMNAT1 Leber Congenital Amaurosis.
A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM.
Title: A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM.
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Title: An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Rare homozygous variant c.[271G > A] p.(Glu91Lys) and compound heterozygous variants c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys) were identified in two cases of cone-rod dystrophy, respectively.
Title: NMNAT1 variants cause cone and cone-rod dystrophy.
Results associate a distinct retinal dystrophy phenotype with nicotinamide-nucleotide adenylyltransferase 1 protein (NMNAT1) mutation and suggest coiled-coil domain containing 66 (CCDC66) should not be considered a retinal dystrophy candidate gene.
Title: Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.

Submit: New GeneRIF Correction See all GeneRIFs (39)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leber congenital amaurosis 9 MedGen: C1837873 OMIM: 608553 GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview	Compare labs
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MedGen: C5543257 OMIM: 619260 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, nicotinamide nucleotide adenylyltransferase 1 (NMNAT1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with NMNAT1 is increased by RRE	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NMNAT1 (e-PCR)
- UniSTS:503298

D1S3281 (e-PCR)
- UniSTS:76052

GDB:434012 (e-PCR)
- UniSTS:157204

D1S3281 (e-PCR)
- UniSTS:69398

D5S2354 (e-PCR)
- UniSTS:473392

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-57613 (e-PCR)
- UniSTS:48956

D1S1423 (e-PCR)
- UniSTS:149619

G34803 (e-PCR)
- UniSTS:28799

L17971 (e-PCR)
- UniSTS:43966

GDB:631802 (e-PCR)
- UniSTS:158429

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables nicotinamide-nucleotide adenylyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables nicotinamide-nucleotide adenylyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables nicotinate-nucleotide adenylyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables nicotinate-nucleotide adenylyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein ADP-ribosyltransferase-substrate adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP generation from poly-ADP-D-ribose	IDA Inferred from Direct Assay more info	PubMed
involved_in NAD biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in NAD biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic DNA fragmentation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in nucleotide biosynthetic process	IC Inferred by Curator more info	PubMed
involved_in positive regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in response to wounding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	IEA Inferred from Electronic Annotation more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1

Names: NMN adenylyltransferase 1; NMN/NaMN adenylyltransferase 1; NaMN adenylyltransferase 1; nicotinamide mononucleotide adenylyltransferase 1; nicotinate-nucleotide adenylyltransferase 1; pyridine nucleotide adenylyltransferase 1

NP_001284707.1

EC 2.7.7.1

EC 2.7.7.18

NP_001284708.1

EC 2.7.7.1

EC 2.7.7.18

NP_073624.2

EC 2.7.7.1

EC 2.7.7.18

XP_011540273.1

EC 2.7.7.1

EC 2.7.7.18

XP_016857596.1

EC 2.7.7.1

EC 2.7.7.18

XP_016857597.1

EC 2.7.7.1

EC 2.7.7.18

XP_047284032.1

EC 2.7.7.1

EC 2.7.7.18

XP_047284033.1

EC 2.7.7.1

EC 2.7.7.18

XP_047284036.1

EC 2.7.7.1

EC 2.7.7.18

XP_047284038.1

EC 2.7.7.1

EC 2.7.7.18

XP_054194283.1

EC 2.7.7.1

EC 2.7.7.18

XP_054194284.1

EC 2.7.7.1

EC 2.7.7.18

XP_054194285.1

EC 2.7.7.1

EC 2.7.7.18

XP_054194286.1

EC 2.7.7.1

EC 2.7.7.18

XP_054194287.1

EC 2.7.7.1

EC 2.7.7.18

XP_054194288.1

EC 2.7.7.1

EC 2.7.7.18

XP_054194289.1

EC 2.7.7.1

EC 2.7.7.18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032954.2 RefSeqGene

Range

5554..47577

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001297778.1 → NP_001284707.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 1

See identical proteins and their annotated locations for NP_001284707.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AL357140, AL603962

Consensus CDS

CCDS108.1

UniProtKB/Swiss-Prot

B1AN63, Q8TAE9, Q9H247, Q9H6B6, Q9HAN9

UniProtKB/TrEMBL

Q53GL1

Conserved Domains (1) summary

cd09286
Location:9 → 254

NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
NM_001297779.2 → NP_001284708.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AI247931, AL603962, BP309588, BU948893

Consensus CDS

CCDS72698.1

UniProtKB/TrEMBL

B1AN62

Related

ENSP00000385131.1, ENST00000403197.5

Conserved Domains (1) summary

cl00015
Location:9 → 109

nt_trans; nucleotidyl transferase superfamily
NM_022787.4 → NP_073624.2 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 1

See identical proteins and their annotated locations for NP_073624.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AL603962, BP339298

Consensus CDS

CCDS108.1

UniProtKB/Swiss-Prot

B1AN63, Q8TAE9, Q9H247, Q9H6B6, Q9HAN9

UniProtKB/TrEMBL

Q53GL1

Related

ENSP00000366410.1, ENST00000377205.6

Conserved Domains (1) summary

cd09286
Location:9 → 254

NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

9942923..9996892

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428077.1 → XP_047284033.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

UniProtKB/TrEMBL

B1AN62
XM_017002108.3 → XP_016857597.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X3
XM_017002107.3 → XP_016857596.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X1

UniProtKB/Swiss-Prot

B1AN63, Q8TAE9, Q9H247, Q9H6B6, Q9HAN9

UniProtKB/TrEMBL

Q53GL1

Conserved Domains (1) summary

cd09286
Location:9 → 254

NMNAT_Eukarya; Nicotinamide/nicotinate mononucleotide adenylyltransferase, Eukaryotic
XM_011541971.2 → XP_011540273.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X4

Conserved Domains (1) summary

cl00015
Location:9 → 109

nt_trans; nucleotidyl transferase superfamily
XM_047428082.1 → XP_047284038.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

UniProtKB/TrEMBL

B1AN62
XM_047428076.1 → XP_047284032.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X1

UniProtKB/Swiss-Prot

B1AN63, Q8TAE9, Q9H247, Q9H6B6, Q9HAN9

UniProtKB/TrEMBL

Q53GL1
XM_047428080.1 → XP_047284036.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

UniProtKB/TrEMBL

B1AN62

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

9485828..9539839

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338310.1 → XP_054194285.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

UniProtKB/TrEMBL

B1AN62
XM_054338313.1 → XP_054194288.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X3
XM_054338314.1 → XP_054194289.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X4
XM_054338309.1 → XP_054194284.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X1

UniProtKB/Swiss-Prot

B1AN63, Q8TAE9, Q9H247, Q9H6B6, Q9HAN9

UniProtKB/TrEMBL

Q53GL1
XM_054338312.1 → XP_054194287.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

UniProtKB/TrEMBL

B1AN62
XM_054338308.1 → XP_054194283.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X1

UniProtKB/Swiss-Prot

B1AN63, Q8TAE9, Q9H247, Q9H6B6, Q9HAN9

UniProtKB/TrEMBL

Q53GL1
XM_054338311.1 → XP_054194286.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform X2

UniProtKB/TrEMBL

B1AN62