NME5 (NME/NM23 family member 5)

Gene

• Entrez ID: 8382
• Gene name: NME/NM23 family member 5
• Gene symbol: NME5
• Synonyms (NCBI Gene): CILD48, NM23-H5, NM23H5, RSPH23
• Chromosome: 5
• Chromosome location: 5q31.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019446	hsa-miR-148b-3p	Microarray	17612493
MIRT029961	hsa-miR-26b-5p	Microarray	19088304
MIRT1187646	hsa-miR-1305	CLIP-seq
MIRT1187647	hsa-miR-607	CLIP-seq
MIRT1187648	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001534	Component	Radial spoke	IEA
GO:0001534	Component	Radial spoke	ISS
GO:0003341	Process	Cilium movement	IBA
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0004550	Function	Nucleoside diphosphate kinase activity	IDA	16313181
GO:0004550	Function	Nucleoside diphosphate kinase activity	TAS	9742940
GO:0005515	Function	Protein binding	IPI	16189514, 19447967, 25416956, 31515488, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0006183	Process	GTP biosynthetic process	IEA
GO:0006228	Process	UTP biosynthetic process	IEA
GO:0006241	Process	CTP biosynthetic process	IEA
GO:0006308	Process	DNA catabolic process	IDA	16313181
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	TAS	9742940
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	IMP	32185794
GO:0007286	Process	Spermatid development	ISS
GO:0008296	Function	3'-5'-DNA exonuclease activity	IDA	16313181
GO:0009116	Process	Nucleoside metabolic process	TAS	9742940
GO:0016787	Function	Hydrolase activity	IEA
GO:0021591	Process	Ventricular system development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0042995	Component	Cell projection	IEA
GO:0048515	Process	Spermatid differentiation	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0097729	Component	9+2 motile cilium	IEA
GO:0097729	Component	9+2 motile cilium	ISS
GO:1902176	Process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IBA
GO:1902176	Process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IEA

Other IDs

• MIM: 603575
• HGNC: 7853
• e!Ensembl: ENSG00000112981

Protein

• UniProt ID: P56597
• Protein name: Nucleoside diphosphate kinase homolog 5 (NDK-H 5) (NDP kinase homolog 5) (3'-5' exonuclease NME5) (EC 3.1.-.-) (Inhibitor of p53-induced apoptosis-beta) (IPIA-beta) (Testis-specific nm23 homolog) (nm23-H5)
• Protein function: Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia. Does not seem to have nucleoside diphosphate kinase (NDPK) activity (PubMed:9742940). Confers protection from cell death by BAX
• PDB: 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00334	NDK	13 → 148	Nucleoside diphosphate kinase	Domain
  PF05186	Dpy-30	156 → 197	Dpy-30 motif	Motif

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in testis germinal cells. {ECO:0000269|PubMed:9742940}.
• Sequence:

  MEISMPPPQIYVEKTLAIIKPDIVDKEEEIQDIILRSGFTIVQRRKLRLSPEQCSNFYVE
  KYGKMFFPNLTAYMSSGPLVAMILARHKAISYWLELLGPNNSLVAKETHPDSLRAIYGTD
  DLRNALHGSNDFAAAEREIRFMFPEVIVEPIPIGQAAKDYLNLHIMPTLLEGLTELCKQK
  PADPLIWLADWLLKNNPNKPKLCHHPIVEEPY

• Sequence length: 212

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Ciliary dyskinesia, primary, 48, without situs inversus	Likely pathogenic; Pathogenic	rs182049871, rs2481809653	RCV002284165 RCV002284166	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CILIARY DYSKINESIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	25311278	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	32950024, 33635012, 37296588, 37998386	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	BEFREE	31479451		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	31479451		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22564704		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22564704		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22564704		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	31479451		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	39252309	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	18644980		★☆☆☆☆ Found in Text Mining only