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NME9 NME/NM23 family member 9 [ Homo sapiens (human) ]

Gene ID: 347736, updated on 27-Nov-2024

Summary

Official Symbol
NME9provided by HGNC
Official Full Name
NME/NM23 family member 9provided by HGNC
Primary source
HGNC:HGNC:21343
See related
Ensembl:ENSG00000181322 MIM:618584; AllianceGenome:HGNC:21343
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
NXL2; TXL2; TXL-2; TXNDC6; NM23-H9
Summary
Predicted to enable nucleoside diphosphate kinase activity. Predicted to be involved in CTP biosynthetic process; GTP biosynthetic process; and UTP biosynthetic process. Predicted to be located in dynein axonemal particle. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 1.1), brain (RPKM 1.0) and 25 other tissues See more
Orthologs
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Genomic context

See NME9 in Genome Data Viewer
Location:
3q22.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138261436..138329851, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (141002003..141070404, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (137980278..138048693, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene alpha-1,4-N-acetylglucosaminyltransferase Neighboring gene OCT4 hESC enhancer GRCh37_chr3:137879291-137879792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20601 Neighboring gene debranching RNA lariats 1 Neighboring gene armadillo repeat containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20602 Neighboring gene uncharacterized LOC124909438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:138066933-138067888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138078932-138079766 Neighboring gene MPRA-validated peak4844 silencer Neighboring gene muscle RAS oncogene homolog

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
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
EBI GWAS Catalog

General gene information

Markers

Clone Names

  • MGC129586

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nucleoside diphosphate kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in CTP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in GTP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in UTP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in dynein axonemal particle ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
thioredoxin domain-containing protein 6
Names
NME gene family member 9
thioredoxin-like protein 2

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_001349018.2NP_001335947.1  thioredoxin domain-containing protein 6 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC022337
    Consensus CDS
    CCDS87142.1
    UniProtKB/Swiss-Prot
    Q7Z4A8, Q86XW9, Q8N1V7
    Related
    ENSP00000335444.3, ENST00000333911.9
    Conserved Domains (2) summary
    cd02948
    Location:11112
    TRX_NDPK; TRX domain, TRX and NDP-kinase (NDPK) fusion protein family; most members of this group are fusion proteins which contain one redox active TRX domain containing a CXXC motif and three NDPK domains, and are characterized as intermediate chains (ICs) of ...
    cd04416
    Location:159295
    NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...
  2. NM_001349020.2NP_001335949.1  thioredoxin domain-containing protein 6 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC022337
    Conserved Domains (2) summary
    cd04416
    Location:96232
    NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...
    cl00388
    Location:1173
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  3. NM_001349021.2NP_001335950.1  thioredoxin domain-containing protein 6 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (d) has a shorter and distinct C-terminus and lacks an alternate internal segment compared to isoform a.
    Source sequence(s)
    AC022337, AC068777
    Consensus CDS
    CCDS87141.1
    Related
    ENSP00000419882.1, ENST00000484930.5
    Conserved Domains (2) summary
    cd04416
    Location:96232
    NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...
    cl00388
    Location:1173
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  4. NM_001349022.2NP_001335951.1  thioredoxin domain-containing protein 6 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (e) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a.
    Source sequence(s)
    AC022337
    Conserved Domains (2) summary
    cd04416
    Location:98234
    NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...
    cl00388
    Location:167
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  5. NM_001349023.2NP_001335952.1  thioredoxin domain-containing protein 6 isoform f

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (f) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a.
    Source sequence(s)
    AC022337
    Conserved Domains (2) summary
    cd04416
    Location:69205
    NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...
    cl00388
    Location:138
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  6. NM_001349024.2NP_001335953.1  thioredoxin domain-containing protein 6 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (g) has the same N- and C-termini but is shorter compared to isoform a. Variants 7 and 8 both encode the same isoform (g).
    Source sequence(s)
    AC022337
    Conserved Domains (2) summary
    cd02948
    Location:1189
    TRX_NDPK; TRX domain, TRX and NDP-kinase (NDPK) fusion protein family; most members of this group are fusion proteins which contain one redox active TRX domain containing a CXXC motif and three NDPK domains, and are characterized as intermediate chains (ICs) of ...
    cd04416
    Location:120256
    NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...
  7. NM_001349025.2NP_001335954.1  thioredoxin domain-containing protein 6 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (g) has the same N- and C-termini but is shorter compared to isoform a. Variants 7 and 8 both encode the same isoform (g).
    Source sequence(s)
    AC022337
    Conserved Domains (2) summary
    cd02948
    Location:1189
    TRX_NDPK; TRX domain, TRX and NDP-kinase (NDPK) fusion protein family; most members of this group are fusion proteins which contain one redox active TRX domain containing a CXXC motif and three NDPK domains, and are characterized as intermediate chains (ICs) of ...
    cd04416
    Location:120256
    NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...
  8. NM_178130.4NP_835231.1  thioredoxin domain-containing protein 6 isoform b

    See identical proteins and their annotated locations for NP_835231.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence, the 3' UTR and coding sequence, and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus, has a shorter and distinct C-terminus, and lacks an alternate internal segment compared to isoform a.
    Source sequence(s)
    AC022337, AC068777, AK094830
    Consensus CDS
    CCDS3099.1
    UniProtKB/Swiss-Prot
    Q86XW9
    Related
    ENSP00000372667.2, ENST00000383180.6
    Conserved Domains (2) summary
    cd04416
    Location:98234
    NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...
    cl00388
    Location:167
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    138261436..138329851 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448078.1XP_047304034.1  thioredoxin domain-containing protein 6 isoform X1

RNA

  1. XR_007095675.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    141002003..141070404 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346437.1XP_054202412.1  thioredoxin domain-containing protein 6 isoform X1

RNA

  1. XR_008486712.1 RNA Sequence