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Aliases for REPIN1 Gene

Aliases for REPIN1 Gene

  • Replication Initiator 1 2 3 5
  • Zinc Finger Protein 464 (RIP60) 2 2 3
  • Replication Initiation Region Protein (60kD) 2 3
  • 60 KDa Replication Initiation Region Protein 3 4
  • 60 KDa Origin-Specific DNA-Binding Protein 3 4
  • DHFR Oribeta-Binding Protein RIP60 3 4
  • Zinc Finger Protein AP4 2 3
  • ATT-Binding Protein 3 4
  • ZNF464 3 4
  • RIP60 3 4
  • Zinc Finger Protein 464 4
  • H_DJ0584D14.12 3
  • Zfp464 3
  • AP4 3

External Ids for REPIN1 Gene

Previous HGNC Symbols for REPIN1 Gene

  • ZNF464

Previous GeneCards Identifiers for REPIN1 Gene

  • GC07P149380
  • GC07P149459
  • GC07P149505
  • GC07P149698
  • GC07P150066
  • GC07P143882

Summaries for REPIN1 Gene

GeneCards Summary for REPIN1 Gene

REPIN1 (Replication Initiator 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF775.

UniProtKB/Swiss-Prot for REPIN1 Gene

  • Sequence-specific double-stranded DNA-binding protein required for initiation of chromosomal DNA replication. Binds on 5-ATT-3 reiterated sequences downstream of the origin of bidirectional replication (OBR) and a second, homologous ATT sequence of opposite orientation situated within the OBR zone. Facilitates DNA bending.

Gene Wiki entry for REPIN1 Gene

Additional gene information for REPIN1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REPIN1 Gene

Genomics for REPIN1 Gene

GeneHancer (GH) Regulatory Elements for REPIN1 Gene

Promoters and enhancers for REPIN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I150364 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 598 +0.3 284 7 MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 NFYC ZC3H11A MEF2D REPIN1 ENSG00000284041 ZNF767P ENSG00000244151 NUB1 ZNF777 ATP6V0E2-AS1 ZNF862 ENSG00000273419 ASIC3
GH07I150375 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 31.3 +12.9 12879 11.7 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ENSG00000284048 ZNF775 NUB1 REPIN1 ZNF777 ZNF767P ZNF862 ENSG00000244151 ZBED6CL TMEM176A
GH07I150354 Enhancer 1.3 Ensembl ENCODE dbSUPER 42.3 -12.8 -12755 1.1 HDGF PKNOX1 ATF1 FOXA2 ARID4B YY1 ZNF766 ATF7 RXRA CAVIN1 GC07P150358 REPIN1 ZNF775 LOC105375564 ZBED6CL GC07P150352
GH07I150356 Enhancer 1.4 Ensembl ENCODE dbSUPER 39.2 -10.0 -9976 3.6 HDGF ARNT YBX1 ZNF2 ZNF766 ZNF302 ZNF143 FOS ZNF263 MCM5 GC07P150358 NUB1 ENSG00000244151 ZNF767P REPIN1 ZNF777 ABCB8 ZNF775 LOC105375564 ZBED6CL
GH07I150363 Enhancer 1.1 Ensembl ENCODE dbSUPER 35 -4.1 -4068 1.3 MAX EBF1 BATF ZNF664 GATA3 CTBP1 POLR2A ETV6 FOS BCLAF1 REPIN1 RARRES2 GC07P150358 LOC105375563
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around REPIN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the REPIN1 gene promoter:

Genomic Locations for REPIN1 Gene

Genomic Locations for REPIN1 Gene
chr7:150,368,189-150,374,044
(GRCh38/hg38)
Size:
5,856 bases
Orientation:
Plus strand
chr7:150,065,278-150,071,133
(GRCh37/hg19)

Genomic View for REPIN1 Gene

Genes around REPIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REPIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REPIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REPIN1 Gene

Proteins for REPIN1 Gene

  • Protein details for REPIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BWE0-REPI1_HUMAN
    Recommended name:
    Replication initiator 1
    Protein Accession:
    Q9BWE0
    Secondary Accessions:
    • C9J3L7
    • D3DWZ1
    • Q7LE03
    • Q9BUZ6
    • Q9NZH2
    • Q9UMP5

    Protein attributes for REPIN1 Gene

    Size:
    567 amino acids
    Molecular mass:
    63575 Da
    Quaternary structure:
    • Homodimers and homomultimers. Found in a complex with RIP60 and RIP100.
    SequenceCaution:
    • Sequence=AAH00363.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAS00386.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAB53100.1; Type=Frameshift; Positions=8; Evidence={ECO:0000305};

    Alternative splice isoforms for REPIN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REPIN1 Gene

Post-translational modifications for REPIN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for REPIN1 Gene

Domains & Families for REPIN1 Gene

Gene Families for REPIN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for REPIN1 Gene

Suggested Antigen Peptide Sequences for REPIN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with REPIN1: view

No data available for UniProtKB/Swiss-Prot for REPIN1 Gene

Function for REPIN1 Gene

Molecular function for REPIN1 Gene

UniProtKB/Swiss-Prot Function:
Sequence-specific double-stranded DNA-binding protein required for initiation of chromosomal DNA replication. Binds on 5-ATT-3 reiterated sequences downstream of the origin of bidirectional replication (OBR) and a second, homologous ATT sequence of opposite orientation situated within the OBR zone. Facilitates DNA bending.

Phenotypes From GWAS Catalog for REPIN1 Gene

Gene Ontology (GO) - Molecular Function for REPIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS,IEA --
GO:0003723 RNA binding IDA,HDA 22658674
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with REPIN1: view
genes like me logo Genes that share phenotypes with REPIN1: view

Animal Models for REPIN1 Gene

MGI Knock Outs for REPIN1:

Animal Model Products

miRNA for REPIN1 Gene

miRTarBase miRNAs that target REPIN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for REPIN1 Gene

Localization for REPIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REPIN1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for REPIN1 gene
Compartment Confidence
nucleus 5
mitochondrion 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for REPIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005664 nuclear origin of replication recognition complex TAS 10606657
genes like me logo Genes that share ontologies with REPIN1: view

Pathways & Interactions for REPIN1 Gene

SuperPathways for REPIN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for REPIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication TAS,IEA --
genes like me logo Genes that share ontologies with REPIN1: view

No data available for Pathways by source and SIGNOR curated interactions for REPIN1 Gene

Drugs & Compounds for REPIN1 Gene

No Compound Related Data Available

Transcripts for REPIN1 Gene

Unigene Clusters for REPIN1 Gene

Replication initiator 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for REPIN1 Gene

No ASD Table

Relevant External Links for REPIN1 Gene

GeneLoc Exon Structure for
REPIN1
ECgene alternative splicing isoforms for
REPIN1

Expression for REPIN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for REPIN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for REPIN1 Gene

This gene is overexpressed in Lymph node (23.4) and Lung (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for REPIN1 Gene



Protein tissue co-expression partners for REPIN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of REPIN1 Gene:

REPIN1

SOURCE GeneReport for Unigene cluster for REPIN1 Gene:

Hs.647086

Evidence on tissue expression from TISSUES for REPIN1 Gene

  • Eye(4.7)
  • Nervous system(4.5)
  • Muscle(4.3)
  • Intestine(2.8)
  • Lung(2.3)
genes like me logo Genes that share expression patterns with REPIN1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for REPIN1 Gene

Orthologs for REPIN1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for REPIN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia REPIN1 33 34
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia REPIN1 33 34
  • 87.35 (n)
cow
(Bos Taurus)
Mammalia REPIN1 33 34
  • 85.51 (n)
mouse
(Mus musculus)
Mammalia Repin1 33 16 34
  • 84.34 (n)
rat
(Rattus norvegicus)
Mammalia Repin1 33
  • 83.7 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 36 (a)
OneToMany
-- 34
  • 36 (a)
OneToMany
Species where no ortholog for REPIN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for REPIN1 Gene

ENSEMBL:
Gene Tree for REPIN1 (if available)
TreeFam:
Gene Tree for REPIN1 (if available)

Paralogs for REPIN1 Gene

Paralogs for REPIN1 Gene

genes like me logo Genes that share paralogs with REPIN1: view

Variants for REPIN1 Gene

Sequence variations from dbSNP and Humsavar for REPIN1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000075065 -- 150,372,861(+) C/T coding_sequence_variant, synonymous_variant
rs1000447807 -- 150,370,214(+) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000466308 -- 150,371,106(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001020169 -- 150,368,744(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001740394 -- 150,369,682(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for REPIN1 Gene

Variant ID Type Subtype PubMed ID
dgv11718n54 CNV loss 21841781
dgv3695n106 OTHER inversion 24896259
nsv1015582 CNV gain 25217958
nsv1034409 CNV gain 25217958
nsv1067934 OTHER inversion 25765185
nsv1119148 CNV deletion 24896259
nsv1151906 OTHER inversion 26484159
nsv521407 CNV loss 19592680
nsv608990 CNV gain 21841781

Variation tolerance for REPIN1 Gene

Residual Variation Intolerance Score: 60.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.93; 98.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for REPIN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
REPIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REPIN1 Gene

Disorders for REPIN1 Gene

Additional Disease Information for REPIN1

No disorders were found for REPIN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for REPIN1 Gene

Publications for REPIN1 Gene

  1. The dhfr oribeta-binding protein RIP60 contains 15 zinc fingers: DNA binding and looping by the central three fingers and an associated proline-rich region. (PMID: 10606657) Houchens CR … Heintz NH (Nucleic acids research 2000) 2 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58
  4. Condensation by DNA looping facilitates transfer of large DNA molecules into mammalian cells. (PMID: 11328883) Montigny WJ … Heintz NH (Nucleic acids research 2001) 3 4 58
  5. RIP60 dimers and multiples of dimers assemble link structures at an origin of bidirectional replication in the dihydrofolate reductase amplicon of Chinese hamster ovary cells. (PMID: 8355269) Mastrangelo IA … Heintz NH (Journal of molecular biology 1993) 3 4 58

Products for REPIN1 Gene

Sources for REPIN1 Gene

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