NME8 - NME/NM23 family member 8 Gene

Homo sapiens

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

Gene ID: 51314 | Gene type: protein coding

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	Reference	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	Reference	Source
acts upstream of or within cilium assembly	IMP IMP: Inferred from mutant phenotype	17360648	GOA

Cellular Component GO Annotation	Evidence	Reference	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

Bioactive Molecules (1)

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

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