1. Gene
  2. GEMIN4 - gem nuclear organelle associated protein 4 Gene

GEMIN4 - gem nuclear organelle associated protein 4 Gene

Homo sapiens

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

Gene ID: 50628 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

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

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