NME8 - NME/NM23 family member 8 Gene

Also Known as CILD6; DNAI8; SPTRX2; TXNDC3; NM23-H8; sptrx-2; HEL-S-99

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51314

About NME8

Cytogenetic location: 7p14.1 Genomic coordinates (GRCh38): 7:37,848,597-37,900,397 (from NCBI)

This gene has 6 transcripts (splice variants), 125 orthologues, 8 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 4.9), bone marrow (RPKM 3.6) and 3 other tissues.

Summary

This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]

NME8 Products (1)

mRNA	Protein	Name
NM_016616.5	NP_057700.3	thioredoxin domain-containing protein 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 3'-5' exonuclease activity	IDA IDA: Inferred from direct assay	16313181	GOA
enables microtubule binding	IDA IDA: Inferred from direct assay	17360648	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within cilium assembly	IMP IMP: Inferred from mutant phenotype	17360648	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11737268	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11737268	GOA
part of outer dynein arm	IMP IMP: Inferred from mutant phenotype	17360648	GOA
located in sperm midpiece	IDA IDA: Inferred from direct assay	11737268	GOA
located in sperm principal piece	IDA IDA: Inferred from direct assay	11737268	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NME8 Protein Structure

Thioredoxin

NDK

0
100
200
300
400
500
588 a.a.

Protein Preferred Names	Protein Names
thioredoxin domain-containing protein 3	epididymis secretory protein Li 99

Related Diseases

Diseases	Alias
Ciliary Dyskinesia, Primary, 6	Primary Ciliary Dyskinesia 6 CILD6 Ics6 Immotile Cilia Syndrome 6 Dyskinesia, Ciliary, Primary, 6
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Kartagener Syndrome	Kartagener'S Syndrome
Ciliary Dyskinesia, Primary, 10	Primary Ciliary Dyskinesia 10 CILD10 Primary Ciliary Dyskinesia 10 With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 10, With Or Without Situs Inversus Ics10 Immotile Cilia Syndrome 10 Dyskinesia, Ciliary, Primary, 10
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09379	NME8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NME8	MGD	MGI:1920662
Bos taurus	NME8	VGNC	VGNC:32130
Rattus norvegicus	NME8	RGD	RGD:735069
Felis catus	NME8	VGNC	VGNC:63838
Canis familiaris	NME8	VGNC	VGNC:43859
Macaca mulatta	NME8	VGNC	VGNC:75190
Others	NME8	NCBI