1. Gene
  2. KDM8 - lysine demethylase 8 Gene

KDM8 - lysine demethylase 8 Gene

Homo sapiens

Also known as JMJD5

Gene ID: 79831 | Gene type: protein coding

About KDM8

Cytogenetic location: 16p12.1 Genomic coordinates (GRCh38): 16:27,203,526-27,221,768 (from NCBI)

This gene has 14 transcripts (splice variants), 205 orthologues and 4 paralogues. Broad expression in liver (RPKM 13.5), small intestine (RPKM 5.4) and 18 other tissues.

Summary

This gene likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]

KDM8 Products(2)

mRNA Protein Name
NM_001145348.2 NP_001138820.1 bifunctional peptidase and arginyl-hydroxylase JMJD5 isoform 1
NM_024773.3 NP_079049.2 bifunctional peptidase and arginyl-hydroxylase JMJD5 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables aminopeptidase activity IDA
IDA: Inferred from direct assay
28847961 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
20457893 GOA
enables endopeptidase activity IDA
IDA: Inferred from direct assay
28847961 GOA
enables histone H3K36 demethylase activity IDA
IDA: Inferred from direct assay
20457893 GOA
enables methylated histone binding IDA
IDA: Inferred from direct assay
28847961 GOA
enables peptidyl-arginine 3-dioxygenase activity EXP
EXP: Inferred from Experiment
29563586 GOA
enables peptidyl-arginine 3-dioxygenase activity IDA
IDA: Inferred from direct assay
29563586 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
24981860 GOA
Biological Process GO Annotation Evidence Reference Source
involved in G2/M transition of mitotic cell cycle IMP
IMP: Inferred from mutant phenotype
20457893 GOA
involved in negative regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
30500822 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
20457893 GOA
involved in protein destabilization IMP
IMP: Inferred from mutant phenotype
30500822 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
20457893 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

KDM8 Protein Structure

Cupin_8

Cupin_8: Cupin-like domain (194 - 415)

  • 0
  • 100
  • 200
  • 300
  • 416 a.a.
Protein Preferred Names Protein Names

bifunctional peptidase and arginyl-hydroxylase JMJD5

JmjC arginyl-hydroxylase

KDM8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
KDM8 Q8N371 RCCD1 Homo sapiens A6NED2 24981860
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Glycogen Storage Disease Xv

GSD15

Gsd Xv

Glycogenin Deficiency

Gyg1 Deficiency

Glycogen Storage Disease Type Xv

Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency

Gsd Type 15

Gsd Type Xv

Gsd With Severe Cardiomyopathy Due To Glycogenin Deficiency

Glycogen Storage Disease Type 15

Glycogenosis Type 15

Glycogenosis Type Xv

Glycogenosis With Severe Cardiomyopathy Due To Glycogenin Deficiency

Glycogen Storage Disease 15

Storage Disease, Glycogen, Type Xv

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

Orthologs Information

Species Symbol Source ID
Felis catus KDM8 VGNC VGNC:80586
Mus musculus KDM8 MGD MGI:1924285
Bos taurus KDM8 VGNC VGNC:30534
Canis familiaris KDM8 VGNC VGNC:42330
Macaca mulatta KDM8 VGNC VGNC:81426
Rattus norvegicus KDM8 RGD RGD:1304823
Others KDM8 NCBI