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

Gene ID: 58887, updated on 27-Nov-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, Nov 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

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