PRDM6 - PR/SET domain 6 Gene

Also Known as PDA3; KMT8C; PRISM

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 93166

About PRDM6

Cytogenetic location: 5q23.2 Genomic coordinates (GRCh38): 5:123,089,241-123,194,266 (from NCBI)

This gene has 4 transcripts (splice variants), 189 orthologues, 36 paralogues and is associated with 3 phenotypes. Broad expression in gall bladder (RPKM 2.3), placenta (RPKM 2.0) and 16 other tissues.

Summary

The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]

PRDM6 Products (1)

mRNA Protein Name
NM_001136239.4 NP_001129711.1 putative histone-lysine N-methyltransferase PRDM6
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
16537907 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

PRDM6 Protein Structure

SET

SET: SET domain (260 - 365)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (473 - 492)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (501 - 523)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (544 - 567)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 595 a.a.
Protein Preferred Names Protein Names

putative histone-lysine N-methyltransferase PRDM6

  • PR domain 6

PRDM6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PRDM6 Q9NQX0 ABI2 Homo sapiens Q9NYB9-2 32296183
Intra
PRDM6 Q9NQX0 ABI2 Homo sapiens Q9NYB9-2 32296183
Intra
PRDM6 Q9NQX0 ABI2 Homo sapiens Q9NYB9-2 32296183
Intra
PRDM6 Q9NQX0 FOXD4L1 Homo sapiens Q9NU39 32296183
Intra
PRDM6 Q9NQX0 TCAF1 Homo sapiens Q9Y4C2-2 32296183
Intra
PRDM6 Q9NQX0 USP54 Homo sapiens Q70EL1-9 32296183
Intra
PRDM6 Q9NQX0 USP54 Homo sapiens Q70EL1-9 32296183
Intra
PRDM6 Q9NQX0 SAMD4A Homo sapiens Q9UPU9-3 32296183
Intra
PRDM6 Q9NQX0 IL16 Homo sapiens Q14005-2 32296183
Intra
PRDM6 Q9NQX0 FTO Homo sapiens Q9C0B1-2 32296183
Intra
PRDM6 Q9NQX0 FTO Homo sapiens Q9C0B1-2 32296183
Intra
PRDM6 Q9NQX0 AHCYL1 Homo sapiens O43865 32296183
Intra
PRDM6 Q9NQX0 AHCYL1 Homo sapiens O43865 32296183
Intra
PRDM6 Q9NQX0 CCNL1 Homo sapiens Q9UK58 32296183
Intra
PRDM6 Q9NQX0 AIRIM Homo sapiens Q9NX04 32296183
Intra
PRDM6 Q9NQX0 ARID5A Homo sapiens Q03989 32296183
Intra
PRDM6 Q9NQX0 ARID5A Homo sapiens Q03989 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Patent Ductus Arteriosus 3
  • PDA3

Familial Patent Arterial Duct
Patent Ductus Arteriosus 1
  • Patent Ductus Arteriosus

  • PDA1

  • Pda

  • Ductus Arteriosus, Patent

  • Patent Ductus Arteriosus, Susceptibility To

  • Patent Ductus Botalli

  • Patency Of The Ductus Arteriosus

  • Patent Ductus Arteriosus Familial

  • Ductus Arteriosus Patent

  • Patent Ductus Arteriosus - Persisting Type

Chromosome 1p36 Deletion Syndrome
  • 1p36 Deletion Syndrome

  • Deletion 1p36

  • Monosomy 1p36

  • Subtelomeric 1p36 Deletion

  • Monosomy 1p36 Syndrome

  • Distal Monosomy 1p36

  • Del(1)(P36)

  • Deletion 1pter

  • Monosomy 1pter

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
Canis familiaris PRDM6 VGNC VGNC:44950
Rattus norvegicus PRDM6 RGD RGD:1559594
Felis catus PRDM6 VGNC VGNC:69036
Mus musculus PRDM6 MGD MGI:2684938
Bos taurus PRDM6 VGNC VGNC:33298
Macaca mulatta PRDM6 VGNC VGNC:110444
Others PRDM6 NCBI