GEMIN7 gem nuclear organelle associated protein 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GEMIN7provided by HGNC
Official Full Name: gem nuclear organelle associated protein 7provided by HGNC
Primary source: HGNC:HGNC:20045
See related: Ensembl:ENSG00000142252 MIM:607419; AllianceGenome:HGNC:20045
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: SIP3
Summary: The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lymph node (RPKM 4.5), spleen (RPKM 4.2) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19q13.32

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45075627..45091518)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (47900757..47916649)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45578885..45594776)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification and characterization a novel protein component of the survival of motor neurons complex termed Gemin7 using native purified SMN complexes and peptide sequencing by mass spectrometry
Title: Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex.
Unrip is recruited to the active SMN complex via a stable interaction with Gemin7
Title: Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization.
Gemin8 has an essential role in the proper structural organization of the SMN complex and the involvement of the heteromeric subunit containing Gemin6, Gemin7, Gemin8, and Unrip in the recruitment of Sm proteins to the snRNP assembly pathway
Title: Gemin8 is required for the architecture and function of the survival motor neuron complex.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr is identified to have a physical interaction with gem (nuclear organelle) associated protein 7 (GEMIN7) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

GEMIN7__6800 (e-PCR)
- UniSTS:466205

SHGC-112 (e-PCR)
- UniSTS:18593

G31107 (e-PCR)
- UniSTS:9162

SHGC-132042 (e-PCR)
- UniSTS:183536

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA splicing, via spliceosome	TAS Traceable Author Statement more info	PubMed
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
involved_in spliceosomal snRNP assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Gemini of coiled bodies	IDA Inferred from Direct Assay more info	PubMed
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
part_of Sm-like protein family complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay 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 nuclear body	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

Go to the top of the page Help

Preferred Names: gem-associated protein 7

Names: gemin-7

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

NM_001007269.2 → NP_001007270.1 gem-associated protein 7

See identical proteins and their annotated locations for NP_001007270.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AC011489, AK024018, BC007793, BU602037

Consensus CDS

CCDS12654.1

UniProtKB/Swiss-Prot

Q6IA34, Q9H840

Related

ENSP00000375813.1, ENST00000391951.2

Conserved Domains (1) summary

cd11677
Location:54 → 130

Gemin7; Gemin 7
NM_001007270.2 → NP_001007271.1 gem-associated protein 7

See identical proteins and their annotated locations for NP_001007271.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AC011489, BC007793, CB148876

Consensus CDS

CCDS12654.1

UniProtKB/Swiss-Prot

Q6IA34, Q9H840

Related

ENSP00000465704.1, ENST00000591747.5

Conserved Domains (1) summary

cd11677
Location:54 → 130

Gemin7; Gemin 7
NM_001319054.1 → NP_001305983.1 gem-associated protein 7

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

BC007793, BM009097

Consensus CDS

CCDS12654.1

UniProtKB/Swiss-Prot

Q6IA34, Q9H840

Related

ENSP00000466342.1, ENST00000591607.1

Conserved Domains (1) summary

cd11677
Location:54 → 130

Gemin7; Gemin 7
NM_001319055.2 → NP_001305984.1 gem-associated protein 7

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AC011489, AW297699, BC007793

Consensus CDS

CCDS12654.1

UniProtKB/Swiss-Prot

Q6IA34, Q9H840

Conserved Domains (1) summary

cd11677
Location:54 → 130

Gemin7; Gemin 7
NM_024707.3 → NP_078983.1 gem-associated protein 7

See identical proteins and their annotated locations for NP_078983.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. All five variants encode the same protein.

Source sequence(s)

AC011489, BC007793, W35331

Consensus CDS

CCDS12654.1

UniProtKB/Swiss-Prot

Q6IA34, Q9H840

Related

ENSP00000270257.3, ENST00000270257.9

Conserved Domains (1) summary

cd11677
Location:54 → 130

Gemin7; Gemin 7