GEMIN5 - gem nuclear organelle associated protein 5 Gene

Also Known as NEDCAM; GEMIN-5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25929

About GEMIN5

Cytogenetic location: 5q33.2 Genomic coordinates (GRCh38): 5:154,887,411-154,938,211 (from NCBI)

This gene has 3 transcripts (splice variants), 204 orthologues, 9 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 4.9), ovary (RPKM 4.6) and 25 other tissues.

Summary

This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of Other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

GEMIN5 Products (2)

mRNA Protein Name
NM_001252156.2 NP_001239085.1 gem-associated protein 5 isoform 2
NM_015465.5 NP_056280.2 gem-associated protein 5 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables RNA 7-methylguanosine cap binding IDA
IDA: Inferred from direct assay
19750007 GOA
enables U1 snRNA binding IDA
IDA: Inferred from direct assay
19377484 GOA
enables U4 snRNA binding IDA
IDA: Inferred from direct assay
19377484 GOA
enables U4atac snRNA binding IDA
IDA: Inferred from direct assay
20513430 GOA
enables mRNA 3'-UTR binding IDA
IDA: Inferred from direct assay
25911097 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11714716 GOA
enables ribosome binding IDA
IDA: Inferred from direct assay
27507887 GOA
enables snRNA binding IDA
IDA: Inferred from direct assay
16857593 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of translation IMP
IMP: Inferred from mutant phenotype
25911097 GOA
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
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-Gemin2 complex IDA
IDA: Inferred from direct assay
19377484 GOA
part of SMN-Sm protein complex IDA
IDA: Inferred from direct assay
18984161 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
11714716 GOA
located in cytosol IDA
IDA: Inferred from direct assay
18984161 GOA
located in nuclear body IDA
IDA: Inferred from direct assay
11714716 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
11714716 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

GEMIN5 Protein Structure

WD40

WD40: WD domain, G-beta repeat (57 - 95)

WD40

WD40: WD domain, G-beta repeat (185 - 255)

WD40

WD40: WD domain, G-beta repeat (630 - 668)

WD40

WD40: WD domain, G-beta repeat (673 - 710)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1508 a.a.
Protein Preferred Names Protein Names

gem-associated protein 5

GEMIN5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GEMIN5 Q8TEQ6 SNRPE Homo sapiens P62304
Pull Down
11714716
Intra
GEMIN5 Q8TEQ6 SMN1 Homo sapiens Q16637
Pull Down
11714716
Intra
GEMIN5 Q8TEQ6 SMN1 Homo sapiens Q16637
Anti Bait CoIP
11714716
Intra
GEMIN5 Q8TEQ6 SMN1 Homo sapiens Q16637
Anti Tag CoIP
11714716
Intra
GEMIN5 Q8TEQ6 EIF4E Homo sapiens P06730
Pull Down
16739988
Intra
GEMIN5 Q8TEQ6 EIF4E Homo sapiens P06730
IF
16739988
Intra
GEMIN5 Q8TEQ6 EIF4E Homo sapiens P06730
Affinity Chrom
16739988
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction

  • NEDCAM
Muscular Atrophy

  • Muscle Wasting

  • Amyotrophia

  • Wasting - Muscle

  • Skeletal Muscle Atrophy
Childhood Spinal Muscular Atrophy

  • Spinal Muscular Atrophies Of Childhood

  • Survival Motor Neuron Spinal Muscular Atrophy
Spinal Muscular Atrophy, Type Ii

  • SMA2

  • Sma Ii

  • Muscular Atrophy, Spinal, Intermediate Type

  • Muscular Atrophy, Spinal, Infantile Chronic Form

  • Intermediate Spinal Muscular Atrophy

  • Spinal Muscular Atrophy Type Ii

  • Spinal Muscular Atrophy-2

  • Spinal Muscular Atrophy 2

  • Spinal Muscular Atrophy Type 2

  • Dubowitz Disease

  • Proximal Spinal Muscular Atrophy Type 2

  • Sma Type 2

  • Sma Type Ii

  • Sma-Ii

  • Spinal Muscular Atrophy Infantile Chronic Form

  • Spinal Muscular Atrophy Intermediate Type

  • Spinal Muscular Atrophies Of Childhood

  • Atrophy, Muscular, Spinal, Type Ii

  • Muscular Atrophy, Spinal, Type Ii
Pontocerebellar Hypoplasia, Type 1e

  • Pontocerebellar Hypoplasia Type 1

  • PCH1E

  • Norman Disease

  • Pch1

  • Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

  • Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

  • Pontocerebellar Hypoplasia Type 1e

  • Pontocerebellar Hypoplasia 1e

  • Doid:0112322

  • Doid:0112330
Spinal Muscular Atrophy, Type Iii

  • SMA3

  • Juvenile Spinal Muscular Atrophy

  • Kugelberg-Welander Disease

  • Sma Iii

  • Kugelberg-Welander Syndrome

  • Kws

  • Muscular Atrophy, Juvenile

  • Spinal Muscular Atrophy, Mild Childhood And Adolescent Form

  • Spinal Muscular Atrophy-3

  • Spinal Muscular Atrophy Type 3

  • Spinal Muscular Atrophy, Type Iii, Modifier Of

  • Type Iii Spinal Muscular Atrophy

  • Sma 3

  • Proximal Spinal Muscular Atrophy Type 3

  • Sma Type 3

  • Sma Type Iii

  • Sma-Iii

  • Spinal Muscular Atrophy 3

  • Spinal Muscular Atrophy Mild Childhood And Adolescent Form

  • Spinal Muscular Atrophy Type Iii

  • Wohlfart-Kugelberg-Welander Disease

  • Atrophy, Muscular, Spinal, Type Iii
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-RS05369 GEMIN5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus GEMIN5 VGNC VGNC:29318
Mus musculus GEMIN5 MGD MGI:2449311
Rattus norvegicus GEMIN5 RGD RGD:1586275
Macaca mulatta GEMIN5 VGNC VGNC:72751
Canis familiaris GEMIN5 VGNC VGNC:41175
Felis catus GEMIN5 VGNC VGNC:62515
Others GEMIN5 NCBI