Gem-associated protein 4

Gem-associated protein 4 is a protein that in humans is encoded by the GEMIN4 gene.^[5][6]

GEMIN4
Identifiers
Aliases	GEMIN4, HC56, HCAP1, HHRF-1, p97, gem nuclear organelle associated protein 4, NEDMCR
External IDs	OMIM: 606969; MGI: 2449313; HomoloGene: 69193; GeneCards: GEMIN4; OMA:GEMIN4 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p13.3 Start 744,421 bp[1] End 753,999 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 B5 Start 76,101,397 bp[2] End 76,108,490 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm left testis right testis skin of abdomen skin of leg gonad gingival epithelium left ovary body of stomach right ovary Top expressed in spermatid testicle epiblast esophagus embryo embryo yolk sac spermatocyte Mesencephalon uterus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component SMN-Sm protein complex cytosol nucleolus small nuclear ribonucleoprotein complex extracellular exosome membrane gemini of coiled bodies nucleoplasm SMN complex nucleus cytoplasm nuclear body Biological process mRNA processing RNA splicing import into nucleus spliceosomal snRNP assembly rRNA processing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 50628 276919 Ensembl ENSG00000179409 ENSMUSG00000049396 UniProt P57678 Q6P6L6 RefSeq (mRNA) NM_015721 NM_177367 RefSeq (protein) NP_056536 NP_796341 Location (UCSC) Chr 17: 0.74 – 0.75 Mb Chr 11: 76.1 – 76.11 Mb PubMed search [3] [4]
Wikidata
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Function

The product of this gene is part of the SMN protein 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.^[6]

Interactions

GEMIN4 has been shown to interact with:

• DDX20,^[5][7]
• EIF2C2,^[7][8]
• LGALS1^[9] and
• SMN1.^[10]