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

    Gene ID: 26151, updated on 27-Nov-2024

    Summary

    Official Symbol
    NAT9provided by HGNC
    Official Full Name
    N-acetyltransferase 9provided by HGNC
    Primary source
    HGNC:HGNC:23133
    See related
    Ensembl:ENSG00000109065 MIM:620913; AllianceGenome:HGNC:23133
    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
    Summary
    Predicted to enable N-acetyltransferase activity. Part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 10.4), ovary (RPKM 7.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NAT9 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74770529..74776345, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75662404..75668235, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72766668..72772484, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RAB37, member RAS oncogene family Neighboring gene uncharacterized LOC124904057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72733027-72733750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72734475-72735197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12717 Neighboring gene SLC9A3R1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72743321-72743916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8939 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72745205-72745830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72747322-72747863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72753485-72754231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72754232-72754979 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72754980-72755726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72755727-72756474 Neighboring gene microRNA 3615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72759127-72759878 Neighboring gene NHERF family PDZ scaffold protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8941 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72779452-72779972 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72779973-72780491 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:72781052-72781552 Neighboring gene transmembrane protein 104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72808337-72809052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72824331-72824831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72827400-72828320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8944 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72850908-72851103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72856835-72857533 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

    EBI 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.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    alpha/beta-tubulin-N-acetyltransferase 9
    Names
    N-acetyltransferase 9 (GCN5-related, putative)
    N-acetyltransferase 9 (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_024306455.1
    XP_024306456.1
    XP_024306457.1
    XP_047291695.1
    XP_047291696.1
    XP_047291698.1
    XP_047291699.1
    XP_047291700.1
    XP_047291701.1
    XP_054171672.1
    XP_054171673.1
    XP_054171674.1
    XP_054171675.1
    XP_054171676.1
    XP_054171677.1
    XP_054171678.1
    XP_054171679.1
    XP_054171680.1
    XP_054171681.1
    XP_054171682.1
    XP_054171683.1
    XP_054171684.1
    XP_054171685.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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  alpha/beta-tubulin-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/TrEMBL
      J3QRL7
      Related
      ENSP00000462019.1, ENST00000580301.5
      Conserved Domains (1) summary
      pfam13302
      Location:14161
      Acetyltransf_3; Acetyltransferase (GNAT) domain
    2. NM_001305078.2NP_001292007.1  alpha/beta-tubulin-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
      B2R7F0, Q9BTD0, Q9BTE0, Q9Y3T3
      UniProtKB/TrEMBL
      J3QRL7
      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  alpha/beta-tubulin-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/TrEMBL
      J3QL33, J3QQR6
      Related
      ENSP00000463353.1, ENST00000583476.5
      Conserved Domains (1) summary
      pfam13302
      Location:13131
      Acetyltransf_3; Acetyltransferase (GNAT) domain
    4. NM_001305080.2NP_001292009.1  alpha/beta-tubulin-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/TrEMBL
      J3QQP3, J3QRL7
      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  alpha/beta-tubulin-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/TrEMBL
      J3QRL7
      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  alpha/beta-tubulin-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/TrEMBL
      J3KT72, J3QRL7
      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  alpha/beta-tubulin-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/TrEMBL
      J3QRL7
      Conserved Domains (2) summary
      pfam00583
      Location:87156
      Acetyltransf_1; Acetyltransferase (GNAT) family
      pfam13302
      Location:13156
      Acetyltransf_3; Acetyltransferase (GNAT) domain
    8. NM_001305084.3NP_001292013.1  alpha/beta-tubulin-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
      Consensus CDS
      CCDS77103.1
      UniProtKB/TrEMBL
      J3KRQ7
      Related
      ENSP00000462120.1, ENST00000582524.5
      Conserved Domains (1) summary
      pfam13302
      Location:14132
      Acetyltransf_3; Acetyltransferase (GNAT) domain
    9. NM_001305085.3NP_001292014.1  alpha/beta-tubulin-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
      Consensus CDS
      CCDS77101.1
      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  alpha/beta-tubulin-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
      Related
      ENST00000583834.5
      Conserved Domains (1) summary
      pfam13302
      Location:13131
      Acetyltransf_3; Acetyltransferase (GNAT) domain
    11. NM_001305087.3NP_001292016.1  alpha/beta-tubulin-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
      UniProtKB/Swiss-Prot
      Q9BTE0
      Conserved Domains (1) summary
      pfam13302
      Location:3107
      Acetyltransf_3; Acetyltransferase (GNAT) domain
    12. NM_001305088.2NP_001292017.1  alpha/beta-tubulin-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  alpha/beta-tubulin-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
      B2R7F0, Q9BTD0, Q9BTE0, Q9Y3T3
      UniProtKB/TrEMBL
      J3QRL7
      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_130954.3 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

    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

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      74770529..74776345 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450687.2XP_024306455.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X1

      UniProtKB/TrEMBL
      J3QRL7
      Related
      ENSP00000464142.1, ENST00000579218.5
      Conserved Domains (1) summary
      pfam13302
      Location:14161
      Acetyltransf_3; Acetyltransferase (GNAT) domain
    2. XM_005257212.5XP_005257269.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X3

      See identical proteins and their annotated locations for XP_005257269.1

      UniProtKB/TrEMBL
      J3QRL7
      Conserved Domains (2) summary
      pfam00583
      Location:57131
      Acetyltransf_1; Acetyltransferase (GNAT) family
      pfam13302
      Location:14131
      Acetyltransf_3; Acetyltransferase (GNAT) domain
    3. XM_017024437.2XP_016879926.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X2

      UniProtKB/TrEMBL
      J3QRL7
    4. XM_006721813.4XP_006721876.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X3

      See identical proteins and their annotated locations for XP_006721876.1

      UniProtKB/TrEMBL
      J3QRL7
      Conserved Domains (2) summary
      pfam00583
      Location:57131
      Acetyltransf_1; Acetyltransferase (GNAT) family
      pfam13302
      Location:14131
      Acetyltransf_3; Acetyltransferase (GNAT) domain
    5. XM_024450689.2XP_024306457.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X7

      UniProtKB/TrEMBL
      J3KSE9
      Conserved Domains (1) summary
      pfam13302
      Location:14131
      Acetyltransf_3; Acetyltransferase (GNAT) domain
    6. XM_024450688.2XP_024306456.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X6

      UniProtKB/TrEMBL
      J3KRQ7
      Conserved Domains (1) summary
      pfam13302
      Location:14132
      Acetyltransf_3; Acetyltransferase (GNAT) domain
    7. XM_047435744.1XP_047291700.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X9

    8. XM_047435745.1XP_047291701.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X9

    9. XM_047435743.1XP_047291699.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X8

      Related
      ENSP00000463860.1, ENST00000578947.1
    10. XM_047435740.1XP_047291696.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X4

    11. XM_011524607.3XP_011522909.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X5

      UniProtKB/TrEMBL
      J3QSG9
      Related
      ENSP00000464681.1, ENST00000584022.5
      Conserved Domains (1) summary
      pfam13302
      Location:13110
      Acetyltransf_3; Acetyltransferase (GNAT) domain
    12. XM_047435742.1XP_047291698.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X8

    13. XM_047435739.1XP_047291695.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X4

    14. XM_017024438.2XP_016879927.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X5

      UniProtKB/TrEMBL
      J3QSG9
      Related
      ENST00000585240.5
      Conserved Domains (1) summary
      pfam13302
      Location:13110
      Acetyltransf_3; Acetyltransferase (GNAT) domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      75662404..75668235 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315697.1XP_054171672.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X1

    2. XM_054315699.1XP_054171674.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X3

    3. XM_054315698.1XP_054171673.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X2

    4. XM_054315700.1XP_054171675.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X3

    5. XM_054315704.1XP_054171679.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X7

    6. XM_054315701.1XP_054171676.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X6

    7. XM_054315709.1XP_054171684.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X9

    8. XM_054315710.1XP_054171685.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X9

    9. XM_054315708.1XP_054171683.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X8

    10. XM_054315703.1XP_054171678.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X10

    11. XM_054315705.1XP_054171680.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X11

    12. XM_054315707.1XP_054171682.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X8

    13. XM_054315702.1XP_054171677.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X10

    14. XM_054315706.1XP_054171681.1  alpha/beta-tubulin-N-acetyltransferase 9 isoform X11