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NAT9 N-acetyltransferase 9 (putative) [ Homo sapiens (human) ]

Gene ID: 26151, updated on 21-Dec-2019

Summary

Official Symbol
NAT9provided by HGNC
Official Full Name
N-acetyltransferase 9 (putative)provided by HGNC
Primary source
HGNC:HGNC:23133
See related
Ensembl:ENSG00000109065
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EBSP, hNATL
Expression
Ubiquitous expression in adrenal (RPKM 10.4), ovary (RPKM 7.4) and 25 other tissues See more
Orthologs

Genomic context

See NAT9 in Genome Data Viewer
Location:
17q25.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (74770529..74776395, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72766686..72772534, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RAB37, member RAS oncogene family Neighboring gene CD300 molecule like family member f Neighboring gene uncharacterized LOC105371893 Neighboring gene SLC9A3 regulator 1 Neighboring gene microRNA 3615 Neighboring gene transmembrane protein 104 Neighboring gene glutamate ionotropic receptor NMDA type subunit 2C

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • DKFZp564C103

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
protein-containing complex IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
N-acetyltransferase 9
Names
N-acetyltransferase 9 (GCN5-related, putative)
embryo brain specific protein
NP_001292006.1
NP_001292007.1
NP_001292008.1
NP_001292009.1
NP_001292010.1
NP_001292011.1
NP_001292012.1
NP_001292013.1
NP_001292014.1
NP_001292015.1
NP_001292016.1
NP_001292017.1
NP_056469.2
XP_005257269.1
XP_006721876.1
XP_011522909.1
XP_016879926.1
XP_016879927.1
XP_016879928.1
XP_016879929.1
XP_016879930.1
XP_024306455.1
XP_024306456.1
XP_024306457.1

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001305077.2NP_001292006.1  N-acetyltransferase 9 isoform 2

    See identical proteins and their annotated locations for NP_001292006.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in an internal exon, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC016888, BC004225, DA259097, HY222854
    Consensus CDS
    CCDS77102.1
    UniProtKB/Swiss-Prot
    Q9BTE0
    Related
    ENSP00000462019.1, ENST00000580301.5
    Conserved Domains (1) summary
    pfam13302
    Location:14161
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  2. NM_001305078.2NP_001292007.1  N-acetyltransferase 9 isoform 1

    See identical proteins and their annotated locations for NP_001292007.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode the same protein (isoform 1).
    Source sequence(s)
    BC004195, BP231776, HY222854
    Consensus CDS
    CCDS11706.1
    UniProtKB/Swiss-Prot
    Q9BTE0
    Conserved Domains (2) summary
    pfam00583
    Location:88162
    Acetyltransf_1; Acetyltransferase (GNAT) family
    pfam13302
    Location:13162
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  3. NM_001305079.2NP_001292008.1  N-acetyltransferase 9 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC004195, BP197633, DA259097, HY222854
    Consensus CDS
    CCDS77104.1
    UniProtKB/Swiss-Prot
    Q9BTE0
    UniProtKB/TrEMBL
    J3QL33
    Related
    ENSP00000463353.1, ENST00000583476.5
    Conserved Domains (1) summary
    pfam13302
    Location:13131
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  4. NM_001305080.2NP_001292009.1  N-acetyltransferase 9 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
    Source sequence(s)
    BC004195, BM909550, DA259097, HY222854
    Consensus CDS
    CCDS82199.1
    UniProtKB/Swiss-Prot
    Q9BTE0
    UniProtKB/TrEMBL
    J3QQP3
    Related
    ENSP00000463824.1, ENST00000581136.5
    Conserved Domains (2) summary
    pfam00583
    Location:88157
    Acetyltransf_1; Acetyltransferase (GNAT) family
    pfam13302
    Location:13157
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  5. NM_001305081.2NP_001292010.1  N-acetyltransferase 9 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses alternate in-frame splice sites in two exons, compared to variant 1. This results in a shorter protein (isoform 5), compared to isoform 1.
    Source sequence(s)
    BC004195, BU159218, DA259097, HY222854
    UniProtKB/Swiss-Prot
    Q9BTE0
    Conserved Domains (2) summary
    pfam00583
    Location:87160
    Acetyltransf_1; Acetyltransferase (GNAT) family
    pfam13302
    Location:13160
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  6. NM_001305082.2NP_001292011.1  N-acetyltransferase 9 isoform 6

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) uses an alternate splice site in the 5' UTR, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (6) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AL537925, BC004195, DA259097, HY222854
    Consensus CDS
    CCDS82200.1
    UniProtKB/Swiss-Prot
    Q9BTE0
    UniProtKB/TrEMBL
    J3KT72
    Related
    ENSP00000462835.1, ENST00000578822.5
    Conserved Domains (2) summary
    pfam00583
    Location:93167
    Acetyltransf_1; Acetyltransferase (GNAT) family
    pfam13302
    Location:18167
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  7. NM_001305083.2NP_001292012.1  N-acetyltransferase 9 isoform 7

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) uses alternate in-frame splice sites in two exons, compared to variant 1. This results in a shorter protein (isoform 7), compared to isoform 1.
    Source sequence(s)
    BC004195, DA259097, HY222854
    UniProtKB/Swiss-Prot
    Q9BTE0
    Conserved Domains (2) summary
    pfam00583
    Location:87156
    Acetyltransf_1; Acetyltransferase (GNAT) family
    pfam13302
    Location:13156
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  8. NM_001305084.2NP_001292013.1  N-acetyltransferase 9 isoform 8

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) lacks an exon and uses an alternate splice site in the 3'-most exon resulting in a translational frameshift, compared to variant 1. This variant encodes isoform 8 which is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC004195, DA010490, HY222854
    Consensus CDS
    CCDS77103.1
    UniProtKB/Swiss-Prot
    Q9BTE0
    UniProtKB/TrEMBL
    J3KRQ7
    Related
    ENSP00000462120.1, ENST00000582524.5
    Conserved Domains (1) summary
    pfam13302
    Location:14132
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  9. NM_001305085.2NP_001292014.1  N-acetyltransferase 9 isoform 9

    See identical proteins and their annotated locations for NP_001292014.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) has multiple differences in the coding region, one of which results in a translational frameshift, compared to variant 1. The resulting protein (isoform 9) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    BC004195, DA259097, DB171198, HY222854
    Consensus CDS
    CCDS77101.1
    UniProtKB/Swiss-Prot
    Q9BTE0
    UniProtKB/TrEMBL
    J3KSE9
    Related
    ENSP00000462454.1, ENST00000583757.5
    Conserved Domains (1) summary
    pfam13302
    Location:14131
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  10. NM_001305086.2NP_001292015.1  N-acetyltransferase 9 isoform 10

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11) uses an alternate in-frame splice site in an internal exon and lacks an exon in the 3' coding region resulting in a translational frameshift, compared to variant 1. It encodes isoform 10 which has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC016888, BC004195, BX333236, DA259097, HY222854
    UniProtKB/Swiss-Prot
    Q9BTE0
    Conserved Domains (1) summary
    pfam13302
    Location:13131
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  11. NM_001305087.2NP_001292016.1  N-acetyltransferase 9 isoform 11

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12) has multiple differences in the coding region and uses a downstream start codon, compared to variant 1. The resulting protein (isoform 11) has distinct N and C-termini and is shorter than isoform 1.
    Source sequence(s)
    AC016888, BC004195, BG702300, DA259097, HY222854
    UniProtKB/Swiss-Prot
    Q9BTE0
    Conserved Domains (1) summary
    pfam13302
    Location:3107
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  12. NM_001305088.2NP_001292017.1  N-acetyltransferase 9 isoform 12

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13) has multiple differences in the coding region and uses a downstream start codon, compared to variant 1. The resulting protein (isoform 12) is shorter than isoform 1, has a shorter N-terminus and a distinct C-terminus.
    Source sequence(s)
    AC016888, BC004195, BQ068039, DA259097, HY222854
    UniProtKB/Swiss-Prot
    Q9BTE0
    Conserved Domains (1) summary
    pfam13302
    Location:14100
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  13. NM_015654.5NP_056469.2  N-acetyltransferase 9 isoform 1

    See identical proteins and their annotated locations for NP_056469.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    BC004195, DA259097, HY222854
    Consensus CDS
    CCDS11706.1
    UniProtKB/Swiss-Prot
    Q9BTE0
    Related
    ENSP00000350467.3, ENST00000357814.8
    Conserved Domains (2) summary
    pfam00583
    Location:88162
    Acetyltransf_1; Acetyltransferase (GNAT) family
    pfam13302
    Location:13162
    Acetyltransf_3; Acetyltransferase (GNAT) domain

RNA

  1. NR_130953.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC004195, BI821280, DA259097, HY222854
  2. NR_130954.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15) contains an alternate internal exon and uses an alternate splice site in the 3'-most exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC004195, BM464121, DA259097, HY222854

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    74770529..74776395 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024439.1XP_016879928.1  N-acetyltransferase 9 isoform X7

    Conserved Domains (1) summary
    pfam13302
    Location:13130
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  2. XM_024450689.1XP_024306457.1  N-acetyltransferase 9 isoform X6

    Conserved Domains (1) summary
    pfam13302
    Location:14131
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  3. XM_024450688.1XP_024306456.1  N-acetyltransferase 9 isoform X5

    Conserved Domains (1) summary
    pfam13302
    Location:14132
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  4. XM_024450687.1XP_024306455.1  N-acetyltransferase 9 isoform X1

    Conserved Domains (1) summary
    pfam13302
    Location:14161
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  5. XM_005257212.4XP_005257269.1  N-acetyltransferase 9 isoform X3

    See identical proteins and their annotated locations for XP_005257269.1

    Conserved Domains (2) summary
    pfam00583
    Location:57131
    Acetyltransf_1; Acetyltransferase (GNAT) family
    pfam13302
    Location:14131
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  6. XM_017024437.1XP_016879926.1  N-acetyltransferase 9 isoform X2

  7. XM_017024441.1XP_016879930.1  N-acetyltransferase 9 isoform X9

  8. XM_006721813.3XP_006721876.1  N-acetyltransferase 9 isoform X3

    See identical proteins and their annotated locations for XP_006721876.1

    Conserved Domains (2) summary
    pfam00583
    Location:57131
    Acetyltransf_1; Acetyltransferase (GNAT) family
    pfam13302
    Location:14131
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  9. XM_011524607.2XP_011522909.1  N-acetyltransferase 9 isoform X4

    Related
    ENSP00000464681.1, ENST00000584022.5
    Conserved Domains (1) summary
    pfam13302
    Location:13110
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  10. XM_017024438.1XP_016879927.1  N-acetyltransferase 9 isoform X4

    Conserved Domains (1) summary
    pfam13302
    Location:13110
    Acetyltransf_3; Acetyltransferase (GNAT) domain
  11. XM_017024440.1XP_016879929.1  N-acetyltransferase 9 isoform X8

RNA

  1. XR_001752477.2 RNA Sequence

  2. XR_934438.3 RNA Sequence

    Related
    ENST00000583834.5
  3. XR_001752474.1 RNA Sequence

  4. XR_001752472.1 RNA Sequence

  5. XR_001752471.1 RNA Sequence

  6. XR_001752473.1 RNA Sequence

  7. XR_001752476.1 RNA Sequence

  8. XR_001752475.1 RNA Sequence

    Related
    ENST00000584409.5
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