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

    Gene ID: 79760, updated on 2-Nov-2024

    Summary

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    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
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    Genomic context

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    See GEMIN7 in Genome Data Viewer
    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_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10748 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45514891-45515392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10749 Neighboring gene RELB proto-oncogene, NF-kB subunit Neighboring gene Sharpr-MPRA regulatory region 3318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45541977-45542846 Neighboring gene Sharpr-MPRA regulatory region 2438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45552602-45553156 Neighboring gene CLK4 associating serine/arginine rich protein Neighboring gene RNA, U6 small nuclear 611, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10753 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:45582765-45583532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45584301-45585066 Neighboring gene zinc finger protein 296 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45593049-45594044 Neighboring gene GEMIN7 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45594045-45595039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45600806-45601394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45601395-45601984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45603163-45603750 Neighboring gene protein phosphatase 1 regulatory subunit 37 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45608463-45609052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45619689-45620344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14785 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45632987-45633488 Neighboring gene Sharpr-MPRA regulatory region 10789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45638457-45639261 Neighboring gene MPRA-validated peak3514 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45641146-45641718 Neighboring gene eukaryotic translation initiation factor 5A pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45656063-45656688 Neighboring gene uncharacterized LOC105372420 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:45657908-45658134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45658871-45659588 Neighboring gene NTPase KAP family P-loop domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization. Grimmler M, et al. Hum Mol Genet, 2005 Oct 15. PMID 16159890
    2. Unrip is a component of SMN complexes active in snRNP assembly. Carissimi C, et al. FEBS Lett, 2005 Apr 25. PMID 15848170
    3. The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex has an Sm protein-like structure. Ma Y, et al. Structure, 2005 Jun. PMID 15939020
    4. The SMN complex, an assemblyosome of ribonucleoproteins. Paushkin S, et al. Curr Opin Cell Biol, 2002 Jun. PMID 12067652
    5. A comprehensive interaction map of the human survival of motor neuron (SMN) complex. Otter S, et al. J Biol Chem, 2007 Feb 23. PMID 17178713

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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

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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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 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 PubChem

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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

    Homology

    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

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    Preferred Names
    gem-associated protein 7
    Names
    gemin-7

    NCBI Reference Sequences (RefSeq)

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    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)

    1. 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

    2. 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

    3. 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

    4. 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

    5. 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

    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

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45075627..45091518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259263.6 → XP_005259320.1  gem-associated protein 7 isoform X1

      See identical proteins and their annotated locations for XP_005259320.1

      UniProtKB/Swiss-Prot
      Q6IA34, Q9H840
      Conserved Domains (1) summary
      cd11677
      Location:54 → 130
      Gemin7; Gemin 7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      47900757..47916649
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322180.1 → XP_054178155.1  gem-associated protein 7 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H840.1 GenPept UniProtKB/Swiss-Prot:Q9H840

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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