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    Repin1 replication initiator 1 [ Mus musculus (house mouse) ]

    Gene ID: 58887, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Repin1provided by MGI
    Official Full Name
    replication initiator 1provided by MGI
    Primary source
    MGI:MGI:1889817
    See related
    Ensembl:ENSMUSG00000052751 AllianceGenome:MGI:1889817
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ap4; Zfp464; Zfp-464; E430037F08Rik
    Summary
    Predicted to enable chromatin insulator sequence binding activity and sequence-specific DNA binding activity. Involved in regulation of fatty acid transport and regulation of transcription by RNA polymerase II. Acts upstream of or within positive regulation of D-glucose import. Located in cytosolic ribosome; lipid droplet; and nuclear membrane. Is expressed in central nervous system and genitourinary system. Orthologous to human REPIN1 (replication initiator 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 58.4), adrenal adult (RPKM 51.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Repin1 in Genome Data Viewer
    Location:
    6 B2.3; 6 23.57 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (48570817..48576016)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (48593883..48599082)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 61 Neighboring gene retinoic acid receptor responder (tazarotene induced) 2 Neighboring gene predicted gene 5111 Neighboring gene STARR-positive B cell enhancer ABC_E6426 Neighboring gene zinc finger protein 775 Neighboring gene predicted gene, 38804 Neighboring gene expressed sequence AI854703

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. REPIN1 regulates iron metabolism and osteoblast apoptosis in osteoporosis. Xia Y, et al. Cell Death Dis, 2023 Sep 25. PMID 37749079, Free PMC Article
    2. Liver-specific Repin1 deficiency impairs transient hepatic steatosis in liver regeneration. Abshagen K, et al. Sci Rep, 2018 Nov 15. PMID 30442920, Free PMC Article
    3. Repin1 deficiency improves insulin sensitivity and glucose metabolism in db/db mice by reducing adipose tissue mass and inflammation. Kunath A, et al. Biochem Biophys Res Commun, 2016 Sep 9. PMID 27402271
    4. Liver-restricted Repin1 deficiency improves whole-body insulin sensitivity, alters lipid metabolism, and causes secondary changes in adipose tissue in mice. Kern M, et al. Diabetes, 2014 Oct. PMID 24760138
    5. Repin1 maybe involved in the regulation of cell size and glucose transport in adipocytes. Ruschke K, et al. Biochem Biophys Res Commun, 2010 Sep 17. PMID 20727851

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. REPIN1 regulates iron metabolism and osteoblast apoptosis in osteoporosis.
      Title: REPIN1 regulates iron metabolism and osteoblast apoptosis in osteoporosis.
    2. Repin1 might be of functional significance for early accumulation of lipids in hepatocytes after partial hepatectomy, facilitating efficient progression of liver regeneration.
      Title: Liver-specific Repin1 deficiency impairs transient hepatic steatosis in liver regeneration.
    3. Our study provides evidence that loss of Repin1 in db/db mice improves insulin sensitivity and reduces chronic hyperglycemia most likely by reducing fat mass and AT inflammation.
      Title: Repin1 deficiency improves insulin sensitivity and glucose metabolism in db/db mice by reducing adipose tissue mass and inflammation.
    4. Our findings indicate that Repin1 plays a role in insulin sensitivity and lipid metabolism by regulating key genes of glucose and lipid metabolism.
      Title: Liver-restricted Repin1 deficiency improves whole-body insulin sensitivity, alters lipid metabolism, and causes secondary changes in adipose tissue in mice.
    5. a potential role for Repin1 as regulator of adipocyte size was shown.Repin1 seems to be involved in the regulation of genes involved in adipogenesis.
      Title: Repin1 maybe involved in the regulation of cell size and glucose transport in adipocytes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC19105

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chromatin insulator sequence binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within positive regulation of D-glucose import IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of fatty acid transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of fatty acid transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosolic ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    DNA-binding protein REPIN1
    Names
    zinc finger protein 464 (RIP60)

    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.

    mRNA and Protein(s)

    1. NM_001079901.1 → NP_001073370.2  DNA-binding protein REPIN1 isoform a

      See identical proteins and their annotated locations for NP_001073370.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
      Source sequence(s)
      BB870810, BC085128
      Consensus CDS
      CCDS85042.1
      UniProtKB/TrEMBL
      A0A0R3P9D3
      Related
      ENSMUSP00000113548.3, ENSMUST00000118229.2
      Conserved Domains (3) summary
      COG5048
      Location:300 → 571
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:492 → 512
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:504 → 529
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001079902.1 → NP_001073371.2  DNA-binding protein REPIN1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.
      Source sequence(s)
      BB870810, BC085128, BY145852
      UniProtKB/Swiss-Prot
      Q5U4E2
      Conserved Domains (3) summary
      COG5048
      Location:299 → 570
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:491 → 511
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:503 → 528
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001079903.1 → NP_001073372.2  DNA-binding protein REPIN1 isoform c

      See identical proteins and their annotated locations for NP_001073372.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct and longer N-terminus, compared to isoform a.
      Source sequence(s)
      AK137310, BB870810, BC085128
      Consensus CDS
      CCDS85041.1
      UniProtKB/TrEMBL
      D3YY67
      Related
      ENSMUSP00000118890.3, ENSMUST00000135151.3
      Conserved Domains (3) summary
      COG5048
      Location:303 → 574
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:495 → 515
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:507 → 532
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001079904.1 → NP_001073373.2  DNA-binding protein REPIN1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' coding region, uses an alternate in-frame splice site, and uses an alternate start codon, compared to variant 1. The encoded isoform (d) has a distinct and longer N-terminus, compared to isoform a.
      Source sequence(s)
      BB870810, BC085128, CA558513
      UniProtKB/Swiss-Prot
      Q5U4E2
      Conserved Domains (3) summary
      COG5048
      Location:302 → 573
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:494 → 514
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:506 → 531
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001079905.1 → NP_001073374.1  DNA-binding protein REPIN1 isoform e

      See identical proteins and their annotated locations for NP_001073374.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks a portion of the 5' UTR and 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) is shorter at the N-terminus, compared to isoform a. Both variants 5 and 6 encode isoform e.
      Source sequence(s)
      BB870810, BC085128
      Consensus CDS
      CCDS39480.1
      UniProtKB/Swiss-Prot
      Q5U4E2, Q8BTQ5
      Conserved Domains (3) summary
      COG5048
      Location:247 → 518
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:439 → 459
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:451 → 476
      zf-H2C2_2; Zinc-finger double domain

    6. NM_175099.3 → NP_780308.2  DNA-binding protein REPIN1 isoform e

      See identical proteins and their annotated locations for NP_780308.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks a portion of the 5' UTR and 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) is shorter at the N-terminus, compared to isoform a. Both variants 5 and 6 encode isoform e.
      Source sequence(s)
      BB870810, BC085128, BM943840
      Consensus CDS
      CCDS39480.1
      UniProtKB/Swiss-Prot
      Q5U4E2, Q8BTQ5
      Related
      ENSMUSP00000132365.2, ENSMUST00000163452.7
      Conserved Domains (3) summary
      COG5048
      Location:247 → 518
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:439 → 459
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:451 → 476
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      48570817..48576016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5U4E2.1 GenPept UniProtKB/Swiss-Prot:Q5U4E2

    Gene LinkOut

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