Cell atlas - NMNAT1 - The Human Protein Atlas

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NMNAT1

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Nuclear bodies
	Nucleoplasm

Human cell
	Nucleoplasm

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GENERAL INFORMATION
Gene name	NMNAT1
Gene description	Nicotinamide nucleotide adenylyltransferase 1
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the nuclear bodies & nucleoplasm.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleoplasm (supported), Nuclear bodies (supported)

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA059447
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the nuclear bodies & nucleoplasm.

Main location

Nucleoplasm (supported), Nuclear bodies (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA059447	BJ	Nucleoplasm
	HPA059447	BJ	Nuclear bodies
	HPA059447	PC-3	Nucleoplasm
	HPA059447	PC-3	Nuclear bodies
	HPA059447	U-2 OS	Nucleoplasm
	HPA059447	U-2 OS	Nuclear bodies

GENE INFORMATION
Gene name	NMNAT1 (HGNC Symbol)
Synonyms	LCA9, NMNAT, PNAT1
Description	Nicotinamide nucleotide adenylyltransferase 1 (HGNC Symbol)
Entrez gene 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]
Chromosome	1
Cytoband	p36.22
Chromosome location (bp)	9943428 - 9985501
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000173614 (version 83.38)
Entrez gene	64802
UniProt	Q9HAN9 (UniProt - Evidence at protein level)
neXtProt	NX_Q9HAN9
Antibodypedia	NMNAT1 antibodies

PROTEIN BROWSER

NMNAT1-001	NMNAT1-002	NMNAT1-003

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
NMNAT1-001 ENSP00000366410 ENST00000377205	Q9HAN9 [Direct mapping] Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 A0A024R4E1 [Target identity:100%; Query identity:100%] Nicotinamide-nucleotide adenylyltransferase Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000309 [nicotinamide-nucleotide adenylyltransferase activity] GO:0003824 [catalytic activity] GO:0004515 [nicotinate-nucleotide adenylyltransferase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006766 [vitamin metabolic process] GO:0006767 [water-soluble vitamin metabolic process] GO:0009058 [biosynthetic process] GO:0009435 [NAD biosynthetic process] GO:0016779 [nucleotidyltransferase activity] GO:0019674 [NAD metabolic process] GO:0034628 ['de novo' NAD biosynthetic process from aspartate] GO:0044281 [small molecule metabolic process] Show all	279 aa 31.9 kDa	No	0
NMNAT1-002 ENSP00000385131 ENST00000403197	B1AN62 [Direct mapping] Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0009058 [biosynthetic process] GO:0009435 [NAD biosynthetic process] GO:0016779 [nucleotidyltransferase activity] Show all	160 aa 18.3 kDa	No	0
NMNAT1-003 ENSP00000467340 ENST00000496751	K7EPD7 [Direct mapping] Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		42 aa 4.7 kDa	No	0

Contact

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.