GEMIN4 - gem nuclear organelle associated protein 4 Gene

Also Known as p97; HC56; HCAP1; HHRF-1; NEDMCR

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 50628

About GEMIN4

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:744,421-754,410 (from NCBI)

This gene has 7 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 20.3), skin (RPKM 9.4) and 23 other tissues.

Summary

The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GEMIN4 Products (1)

mRNA Protein Name
NM_015721.3 NP_056536.2 gem-associated protein 4

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
11714716 GOA
enables ribonucleoprotein complex binding IDA
IDA: Inferred from direct assay
10725331 GOA
Biological Process GO Annotation Evidence References Source
involved in spliceosomal snRNP assembly EXP
EXP: Inferred from Experiment
12067652 GOA
involved in spliceosomal snRNP assembly IDA
IDA: Inferred from direct assay
18984161 GOA
Cellular Component GO Annotation Evidence References Source
located in Cajal body IDA
IDA: Inferred from direct assay
10725331 GOA
part of SMN complex IDA
IDA: Inferred from direct assay
17178713 GOA
part of SMN complex IPI
IPI: Inferred from physical interaction
17178713 GOA
part of SMN-Sm protein complex IDA
IDA: Inferred from direct assay
18984161 GOA
located in cytosol IDA
IDA: Inferred from direct assay
18984161 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
10725331 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
Protein Preferred Names Protein Names

gem-associated protein 4

  • HCC-associated protein 1

GEMIN4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GEMIN4 P57678 KRTAP9-2 Homo sapiens Q9BYQ4
Validated Y2H
32296183
Intra
GEMIN4 P57678 UFC1 Homo sapiens Q9Y3C8
Validated Y2H
32296183
Intra
GEMIN4 P57678 KRTAP13-2 Homo sapiens Q52LG2
Validated Y2H
32296183
Intra
GEMIN4 P57678 KRTAP13-4 Homo sapiens Q3LI77
Validated Y2H
32296183
Intra
GEMIN4 P57678 CDC20B Homo sapiens Q86Y33-5
Validated Y2H
32296183
Intra
GEMIN4 P57678 KRTAP15-1 Homo sapiens Q3LI76
Validated Y2H
32296183
Intra
GEMIN4 P57678 USP15 Homo sapiens Q9Y4E8-2
Validated Y2H
32296183
Intra
GEMIN4 P57678 CERCAM Homo sapiens Q5T4B2
Validated Y2H
32296183
Intra
GEMIN4 P57678 KRTAP2-4 Homo sapiens Q9BYR9
Validated Y2H
32296183
Intra
GEMIN4 P57678 KANK2 Homo sapiens Q63ZY3
Validated Y2H
32296183
Intra
GEMIN4 P57678 ZNF326 Homo sapiens Q5BKZ1
Validated Y2H
32296183
Intra
GEMIN4 P57678 DDX20 Homo sapiens Q9UHI6
Validated Y2H
32296183
Intra
GEMIN4 P57678 DDX20 Homo sapiens Q9UHI6
Anti Bait CoIP
23752268
Intra
GEMIN4 P57678 SPRY1 Homo sapiens O43609
Y2H
21988832
Intra
GEMIN4 P57678 FBXL12 Homo sapiens Q9NXK8
Validated Y2H
32296183
Intra
GEMIN4 P57678 CCDC185 Homo sapiens Q8N715
Validated Y2H
32296183
Intra
GEMIN4 P57678 SPG21 Homo sapiens Q9NZD8
Validated Y2H
32296183
Intra
GEMIN4 P57678 TAP1 Homo sapiens Q03518
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities

  • NEDMCR
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Spinal Muscular Atrophy

  • Sma

  • 5q Sma

  • Proximal Sma

  • Sma-Associated Sma

  • Spinal Amyotrophies

  • Spinal Amyotrophy

  • Spinal Muscle Degeneration

  • Spinal Muscle Wasting

  • Muscular Atrophy Spinal

  • Atrophy, Muscular, Spinal

  • Hereditary Motor Neuronopathy

  • Progressive Muscular Atrophy

  • Sma - [Spinal Muscular Atrophy]
Quadriplegia

  • Tetraplegia

  • Tetraplegias
Muscular Atrophy

  • Muscle Wasting

  • Amyotrophia

  • Wasting - Muscle

  • Skeletal Muscle Atrophy
Gastroesophageal Reflux

  • Gastroesophageal Reflux Disease

  • Gerd

  • GER

  • Gastroesophageal Reflux, Pediatric

  • Acid Reflux

  • Gastresophageal Reflux

  • Gastro-Esophageal Reflux

  • Gerd - Gastro-Esophageal Reflux Disease
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-RS05368 GEMIN4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris GEMIN4 VGNC VGNC:41174
Rattus norvegicus GEMIN4 RGD RGD:1563715
Macaca mulatta GEMIN4 VGNC VGNC:72723
Mus musculus GEMIN4 MGD MGI:2449313
Felis catus GEMIN4 VGNC VGNC:62514
Bos taurus GEMIN4 VGNC VGNC:29317
Others GEMIN4 NCBI