2. Gene
  3. GEMIN5 - gem nuclear organelle associated protein 5 Gene

GEMIN5 - gem nuclear organelle associated protein 5 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as NEDCAM; GEMIN-5

Gene ID: 25929 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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
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  • 1200
  • 1508 a.a.
Protein Preferred Names Protein Names

gem-associated protein 5

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05369 GEMIN5 Human Pre-designed siRNA Set A Pre-designed Sets / 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