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

Gene ID: 79760, updated on 6-Jan-2019

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
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

Genomic context

See GEMIN7 in Genome Data Viewer
Location:
19q13.32
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (45075717..45091524)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45579024..45594782)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RELB proto-oncogene, NF-kB subunit Neighboring gene CLK4 associating serine/arginine rich protein Neighboring gene RNA, U6 small nuclear 611, pseudogene Neighboring gene zinc finger protein 296 Neighboring gene GEMIN7 antisense RNA 1 Neighboring gene protein phosphatase 1 regulatory subunit 37 Neighboring gene eukaryotic translation initiation factor 5A pseudogene 3 Neighboring gene uncharacterized LOC105372420 Neighboring gene NTPase KAP family P-loop domain containing 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Metabolism of non-coding RNA, organism-specific biosystem (from REACTOME)
    Metabolism of non-coding RNA, organism-specific biosystemThe term non-coding is commonly employed for RNA that does not encode a protein, but this does not mean that such RNAs do not contain information nor have function. There is considerable evidence tha...
  • RNA transport, organism-specific biosystem (from KEGG)
    RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • RNA transport, conserved biosystem (from KEGG)
    RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • Survival motor neuron (SMN) complex, organism-specific biosystem (from KEGG)
    Survival motor neuron (SMN) complex, organism-specific biosystemStructural complex; Genetic information processing; RNA processing
  • Survival motor neuron (SMN) complex, conserved biosystem (from KEGG)
    Survival motor neuron (SMN) complex, conserved biosystemStructural complex; Genetic information processing; RNA processing
  • snRNP Assembly, organism-specific biosystem (from REACTOME)
    snRNP Assembly, organism-specific biosystemSmall nuclear ribonucleoproteins (snRNPs) are crucial for pre-mRNA processing to mRNAs. Each snRNP contains a small nuclear RNA (snRNA) and an extremely stable core of seven Sm proteins. The U6 snRNA...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
import into nucleus TAS
Traceable Author Statement
more info
 
mRNA splicing, via spliceosome TAS
Traceable Author Statement
more info
PubMed 
spliceosomal snRNP assembly IDA
Inferred from Direct Assay
more info
PubMed 
spliceosomal snRNP assembly TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Gemini of coiled bodies IDA
Inferred from Direct Assay
more info
PubMed 
SMN complex IDA
Inferred from Direct Assay
more info
PubMed 
SMN-Sm protein complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
gem-associated protein 7
Names
gemin-7

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001007269.1NP_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
    Q9H840
    Related
    ENSP00000375813.1, ENST00000391951.2
    Conserved Domains (1) summary
    cd11677
    Location:54130
    Gemin7; Gemin 7
  2. NM_001007270.1NP_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
    Q9H840
    Related
    ENSP00000465704.1, ENST00000591747.5
    Conserved Domains (1) summary
    cd11677
    Location:54130
    Gemin7; Gemin 7
  3. NM_001319054.1NP_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
    Q9H840
    Related
    ENSP00000466342.1, ENST00000591607.1
    Conserved Domains (1) summary
    cd11677
    Location:54130
    Gemin7; Gemin 7
  4. NM_001319055.1NP_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)
    AW297699, BC007793
    Consensus CDS
    CCDS12654.1
    UniProtKB/Swiss-Prot
    Q9H840
    Conserved Domains (1) summary
    cd11677
    Location:54130
    Gemin7; Gemin 7
  5. NM_024707.2NP_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
    Q9H840
    Related
    ENSP00000270257.3, ENST00000270257.8
    Conserved Domains (1) summary
    cd11677
    Location:54130
    Gemin7; Gemin 7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    45075717..45091524
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259263.5XP_005259320.1  gem-associated protein 7 isoform X1

    See identical proteins and their annotated locations for XP_005259320.1

    UniProtKB/Swiss-Prot
    Q9H840
    Conserved Domains (1) summary
    cd11677
    Location:54130
    Gemin7; Gemin 7
  2. XM_017027312.1XP_016882801.1  gem-associated protein 7 isoform X1

    UniProtKB/Swiss-Prot
    Q9H840
    Conserved Domains (1) summary
    cd11677
    Location:54130
    Gemin7; Gemin 7
  3. XM_005259262.3XP_005259319.1  gem-associated protein 7 isoform X1

    See identical proteins and their annotated locations for XP_005259319.1

    UniProtKB/Swiss-Prot
    Q9H840
    Conserved Domains (1) summary
    cd11677
    Location:54130
    Gemin7; Gemin 7
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