NME7 NME/NM23 family member 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NME7provided by HGNC
Official Full Name: NME/NM23 family member 7provided by HGNC
Primary source: HGNC:HGNC:20461
See related: Ensembl:ENSG00000143156 MIM:613465; AllianceGenome:HGNC:20461
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: NDK7; NDK 7; CFAP67; MN23H7; nm23-H7
Summary: This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression: Broad expression in kidney (RPKM 30.7), gall bladder (RPKM 25.0) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (169132531..169367797, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (168488013..168723109, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (169101769..169337035, complement)

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?

Study provides evidence that the deleterious mutation in NME7, which results in deletion of amino acids necessary for its interaction with Gamma-tubulin ring complex associated with impaired left-right asymmetry manifested by Situs Inversus Totalis.
Title: A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.
RNA-seq analysis shows vast differences between the parent FGF2 grown, primed state cells, and NME7AB converted cells, but similarities to altered gene expression patterns reported by others generating naive-like stem cells via the use of biochemical inhibitors
Title: A Primitive Growth Factor, NME7AB , Is Sufficient to Induce Stable Naïve State Human Pluripotency; Reprogramming in This Novel Growth Factor Confers Superior Differentiation.
NME7 functions in the gamma-tubulin ring complex in a kinase-dependent manner to facilitate microtubule nucleation.
Title: NME7 is a functional component of the γ-tubulin ring complex.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
Compared with wild-type betagamma nucleoside diphosphate kinase overexpression of Gbeta nucleoside diphosphate kinase suppressed basal cAMP formation up to 55%.
Title: Regulation of cardiac cAMP synthesis and contractility by nucleoside diphosphate kinase B/G protein beta gamma dimer complexes.

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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

EBI GWAS Catalog

Description
A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic predictors of fibrin D-dimer levels in healthy adults. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of venous thrombosis: insights from a new genome wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL010073 (e-PCR)
- UniSTS:10498

D11S2951 (e-PCR)
- UniSTS:152084

SHGC-78952 (e-PCR)
- UniSTS:100902

ATP1B1 (e-PCR)
- UniSTS:503734

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3'-5' exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info
NOT enables nucleoside diphosphate kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed

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
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
involved_in epithelial cilium movement involved in extracellular fluid movement	IEA Inferred from Electronic Annotation more info
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in intraciliary transport	IEA Inferred from Electronic Annotation more info
involved_in receptor clustering	IEA Inferred from Electronic Annotation more info
involved_in regulation of microtubule nucleation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in axonemal A tubule inner sheath	ISS Inferred from Sequence or Structural Similarity more info
is_active_in axonemal microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in axonemal microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IEA Inferred from Electronic Annotation more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
part_of gamma-tubulin ring complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in sperm flagellum	ISS Inferred from Sequence or Structural Similarity more info
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: nucleoside diphosphate kinase homolog 7

Names: 3'-5' exonuclease NME7; NDP kinase 7; NDP kinase homolog 7; cilia and flagella associated protein 67; non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase); protein kinase NME7

NP_037462.1

EC 2.7.4.6

NP_932076.1

EC 2.7.4.6

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_051763.1 RefSeqGene

Range

5167..240433

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_013330.5 → NP_037462.1 nucleoside diphosphate kinase homolog 7 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer protein (isoform a).

Source sequence(s)

AF153191, BG204249

Consensus CDS

CCDS1277.1

UniProtKB/Swiss-Prot

A8K3T6, A8MY09, B3KSW9, Q5TGZ4, Q9Y5B8

UniProtKB/TrEMBL

B4DXC8

Related

ENSP00000356785.3, ENST00000367811.8

Conserved Domains (3) summary

smart00676
Location:3 → 91

DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases

cd04412
Location:238 → 371

NDPk7B; Nucleoside diphosphate kinase 7 domain B (NDPk7B): The nm23-H7 class of nucleoside diphosphate kinase (NDPk7) consists of an N-terminal DM10 domain and two functional catalytic NDPk modules, NDPk7A and NDPk7B. The function of the DM10 domain, which also ...

cd04415
Location:92 → 222

NDPk7A; Nucleoside diphosphate kinase 7 domain A (NDPk7A): The nm23-H7 class of nucleoside diphosphate kinase (NDPk7) consists of an N-terminal DM10 domain and two functional catalytic NDPk modules, NDPk7A and NDPk7B. The function of the DM10 domain, which also ...
NM_197972.3 → NP_932076.1 nucleoside diphosphate kinase homolog 7 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream AUG, compared to variant 1. The encoded protein (isoform b) is shorter than isoform a.

Source sequence(s)

AK094513, BG204249

Consensus CDS

CCDS44274.1

UniProtKB/TrEMBL

B4DXC8

Related

ENSP00000433341.1, ENST00000472647.5

Conserved Domains (3) summary

cd04412
Location:202 → 335

NDPk7B; Nucleoside diphosphate kinase 7 domain B (NDPk7B): The nm23-H7 class of nucleoside diphosphate kinase (NDPk7) consists of an N-terminal DM10 domain and two functional catalytic NDPk modules, NDPk7A and NDPk7B. The function of the DM10 domain, which also ...

cd04415
Location:56 → 186

NDPk7A; Nucleoside diphosphate kinase 7 domain A (NDPk7A): The nm23-H7 class of nucleoside diphosphate kinase (NDPk7) consists of an N-terminal DM10 domain and two functional catalytic NDPk modules, NDPk7A and NDPk7B. The function of the DM10 domain, which also ...

cl26962
Location:3 → 55

DUF1126; DUF1126 PH-like domain

RNA

NR_104229.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 3' 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)

AK301917, BG204249

Related

ENST00000525440.5