GEMIN4 gem nuclear organelle associated protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GEMIN4provided by HGNC
Official Full Name: gem nuclear organelle associated protein 4provided by HGNC
Primary source: HGNC:HGNC:15717
See related: Ensembl:ENSG00000179409 MIM:606969; AllianceGenome:HGNC:15717
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p97; HC56; HCAP1; HHRF-1; NEDMCR
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]
Expression: Broad expression in testis (RPKM 20.3), skin (RPKM 9.4) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (744421..754410, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (629497..641166, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (647661..655504, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GEMIN4 Variants: Risk Profiling, Bioinformatics, and Dynamic Simulations Uncover Susceptibility to Bladder Carcinoma.
Title: GEMIN4 Variants: Risk Profiling, Bioinformatics, and Dynamic Simulations Uncover Susceptibility to Bladder Carcinoma.
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
Title: Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
Title: A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
Association of GEMIN4 gene polymorphisms with the risk of colorectal cancer in the Polish population.
Title: Association of GEMIN4 gene polymorphisms with the risk of colorectal cancer in the Polish population.
We selected five single nucleotide polymorphisms (SNPs) (rs7813, rs2740349, rs2291778, rs910924, rs595961) in two key microRNA biosynthesis genes (GEMIN4 and AGO1) and systematically evaluated the association between these SNPs, the gene-environment interaction and lung cancer risk. This is the first study showing that rs7813 and rs595961 could be meaningful as genetic markers for lung cancer risk.
Title: Polymorphisms in GEMIN4 and AGO1 Genes Are Associated with the Risk of Lung Cancer: A Case-Control Study in Chinese Female Non-Smokers.
These findings indicate that GEMIN4 functions as a novel coregulator of the MR.
Title: GEMIN4 functions as a coregulator of the mineralocorticoid receptor.
the association between the GEMIN4 gene and the risk of prostate cancer
Title: Genetic variants in the microRNA machinery gene GEMIN4 are associated with risk of prostate cancer: a case-control study of the Chinese Han population.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Role of primary miRNA polymorphic variants in metastatic colon cancer patients treated with 5-fluorouracil and irinotecan.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Black carbon exposures, blood pressure, and interactions with single nucleotide polymorphisms in MicroRNA processing genes.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities MedGen: C4693567 OMIM: 617913 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr is identified to have a physical interaction with gem (nuclear organelle) associated protein 4 (GEMIN4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1569 (e-PCR)
- UniSTS:151860

RH75762 (e-PCR)
- UniSTS:86896

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribonucleoprotein complex binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in rRNA processing	IEA Inferred from Electronic Annotation more info
involved_in spliceosomal snRNP assembly	EXP Inferred from Experiment more info	PubMed
involved_in spliceosomal snRNP assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in spliceosomal snRNP assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
located_in Gemini of coiled bodies	IEA Inferred from Electronic Annotation more info
part_of SMN complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SMN complex	IDA Inferred from Direct Assay more info	PubMed
part_of SMN complex	IPI Inferred from Physical Interaction more info	PubMed
part_of SMN-Sm protein complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of small nuclear ribonucleoprotein complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: gem-associated protein 4

Names: HCC-associated protein 1; component of gems 4; gemin-4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046938.1 RefSeqGene

Range

5609..13452

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_015721.3 → NP_056536.2 gem-associated protein 4

See identical proteins and their annotated locations for NP_056536.2

Status: REVIEWED

Source sequence(s)

AC087392, BC020062, BC036024, DB455185

Consensus CDS

CCDS45559.1

UniProtKB/Swiss-Prot

P57678, Q9NZS7, Q9UG32, Q9Y4Q2

UniProtKB/TrEMBL

Q8WUM5

Related

ENSP00000321706.5, ENST00000319004.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

744421..754410 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436180.1 → XP_047292136.1 gem-associated protein 4 isoform X1
XM_005256670.6 → XP_005256727.1 gem-associated protein 4 isoform X2

See identical proteins and their annotated locations for XP_005256727.1

UniProtKB/TrEMBL

I3L2C7, Q9HBB9
XM_011523911.3 → XP_011522213.1 gem-associated protein 4 isoform X1

See identical proteins and their annotated locations for XP_011522213.1

UniProtKB/TrEMBL

Q8WUM5
XM_017024709.2 → XP_016880198.1 gem-associated protein 4 isoform X1

UniProtKB/TrEMBL

Q8WUM5
XM_011523910.3 → XP_011522212.1 gem-associated protein 4 isoform X1

See identical proteins and their annotated locations for XP_011522212.1

UniProtKB/TrEMBL

Q8WUM5
XM_011523913.3 → XP_011522215.1 gem-associated protein 4 isoform X2

See identical proteins and their annotated locations for XP_011522215.1

UniProtKB/TrEMBL

I3L2C7, Q9HBB9
XM_011523912.3 → XP_011522214.1 gem-associated protein 4 isoform X2

See identical proteins and their annotated locations for XP_011522214.1

UniProtKB/TrEMBL

I3L2C7, Q9HBB9

Related

ENSP00000459565.1, ENST00000576778.1

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

629497..641166 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316332.1 → XP_054172307.1 gem-associated protein 4 isoform X1
XM_054316333.1 → XP_054172308.1 gem-associated protein 4 isoform X2

UniProtKB/TrEMBL

Q9HC39
XM_054316330.1 → XP_054172305.1 gem-associated protein 4 isoform X1
XM_054316329.1 → XP_054172304.1 gem-associated protein 4 isoform X1
XM_054316331.1 → XP_054172306.1 gem-associated protein 4 isoform X1
XM_054316335.1 → XP_054172310.1 gem-associated protein 4 isoform X2

UniProtKB/TrEMBL

Q9HC39
XM_054316334.1 → XP_054172309.1 gem-associated protein 4 isoform X2

UniProtKB/TrEMBL

Q9HC39