Aliases for UHRF1BP1 Gene

Aliases for UHRF1BP1 Gene

  • UHRF1 Binding Protein 1 2 3 5
  • Ubiquitin-Like Containing PHD And RING Finger Domains 1-Binding Protein 1 3 4
  • UHRF1-Binding Protein 1 3 4
  • C6orf107 3 4
  • Chromosome 6 Open Reading Frame 107 2
  • UHRF1 (ICBP90) Binding Protein 1 3
  • ICBP90 Binding Protein 1 3
  • ICBP90-Binding Protein 1 4
  • DJ349A12.1 3
  • ICBP90 3

External Ids for UHRF1BP1 Gene

Previous HGNC Symbols for UHRF1BP1 Gene

  • C6orf107

Previous GeneCards Identifiers for UHRF1BP1 Gene

  • GC06P034869
  • GC06P034763
  • GC06P034482
  • GC06P034866
  • GC06P035772
  • GC06P036302
  • GC06P037288
  • GC06P034962
  • GC06P035513
  • GC06P042769
  • GC06P043103
  • GC06P043326
  • GC06P037747
  • GC06P038371
  • GC06P038961
  • GC06P039549
  • GC06P040109
  • GC06P041172
  • GC06P041854
  • GC06P042503

Summaries for UHRF1BP1 Gene

GeneCards Summary for UHRF1BP1 Gene

UHRF1BP1 (UHRF1 Binding Protein 1) is a Protein Coding gene. Diseases associated with UHRF1BP1 include Hypogonadotropic Hypogonadism 14 With Or Without Anosmia and Systemic Lupus Erythematosus. Gene Ontology (GO) annotations related to this gene include identical protein binding and histone deacetylase binding. An important paralog of this gene is UHRF1BP1L.

UniProtKB/Swiss-Prot Summary for UHRF1BP1 Gene

Additional gene information for UHRF1BP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UHRF1BP1 Gene

Genomics for UHRF1BP1 Gene

GeneHancer (GH) Regulatory Elements for UHRF1BP1 Gene

Promoters and enhancers for UHRF1BP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UHRF1BP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UHRF1BP1

Top Transcription factor binding sites by QIAGEN in the UHRF1BP1 gene promoter:
  • E2F
  • E2F-1
  • GATA-6
  • Hlf
  • IRF-2
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha1
  • YY1
  • ZID

Genomic Locations for UHRF1BP1 Gene

Genomic Locations for UHRF1BP1 Gene
chr6:34,792,015-34,883,138
(GRCh38/hg38)
Size:
91,124 bases
Orientation:
Plus strand
chr6:34,759,794-34,850,915
(GRCh37/hg19)
Size:
91,122 bases
Orientation:
Plus strand

Genomic View for UHRF1BP1 Gene

Genes around UHRF1BP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UHRF1BP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UHRF1BP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UHRF1BP1 Gene

Proteins for UHRF1BP1 Gene

  • Protein details for UHRF1BP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6BDS2-URFB1_HUMAN
    Recommended name:
    UHRF1-binding protein 1
    Protein Accession:
    Q6BDS2
    Secondary Accessions:
    • Q9NXE0

    Protein attributes for UHRF1BP1 Gene

    Size:
    1440 amino acids
    Molecular mass:
    159485 Da
    Quaternary structure:
    • Homodimer (Potential). Interacts with UHRF1.
    SequenceCaution:
    • Sequence=BAA91074.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};

neXtProt entry for UHRF1BP1 Gene

Post-translational modifications for UHRF1BP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UHRF1BP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UHRF1BP1 Gene

Domains & Families for UHRF1BP1 Gene

Gene Families for UHRF1BP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for UHRF1BP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UHRF1BP1 Gene

GenScript: Design optimal peptide antigens:
  • UHRF1BP1 protein (B2RNT9_HUMAN)
  • Ubiquitin-like containing PHD and RING finger domains 1-binding protein 1 (URFB1_HUMAN)
genes like me logo Genes that share domains with UHRF1BP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for UHRF1BP1 Gene

Function for UHRF1BP1 Gene

Molecular function for UHRF1BP1 Gene

UniProtKB/Swiss-Prot Function:
May act as a negative regulator of cell growth.

Phenotypes From GWAS Catalog for UHRF1BP1 Gene

Gene Ontology (GO) - Molecular Function for UHRF1BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15361834
GO:0042802 identical protein binding IPI 15361834
GO:0042826 histone deacetylase binding IPI 15361834
genes like me logo Genes that share ontologies with UHRF1BP1: view
genes like me logo Genes that share phenotypes with UHRF1BP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UHRF1BP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UHRF1BP1 Gene

Localization for UHRF1BP1 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 UHRF1BP1 gene
Compartment Confidence
nucleus 3
cytosol 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for UHRF1BP1 Gene

Pathways & Interactions for UHRF1BP1 Gene

PathCards logo

SuperPathways for UHRF1BP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UHRF1BP1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for UHRF1BP1 Gene

Drugs & Compounds for UHRF1BP1 Gene

No Compound Related Data Available

Transcripts for UHRF1BP1 Gene

mRNA/cDNA for UHRF1BP1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UHRF1BP1

Alternative Splicing Database (ASD) splice patterns (SP) for UHRF1BP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for UHRF1BP1 Gene

GeneLoc Exon Structure for
UHRF1BP1

Expression for UHRF1BP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UHRF1BP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UHRF1BP1 Gene

This gene is overexpressed in Fetal testis (15.8), Placenta (14.0), and CD8 Tcells (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UHRF1BP1 Gene



Protein tissue co-expression partners for UHRF1BP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UHRF1BP1

SOURCE GeneReport for Unigene cluster for UHRF1BP1 Gene:

Hs.700656

Evidence on tissue expression from TISSUES for UHRF1BP1 Gene

  • Liver(4.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with UHRF1BP1: 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 UHRF1BP1 Gene

Orthologs for UHRF1BP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for UHRF1BP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UHRF1BP1 31 30
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UHRF1BP1 31 30
  • 90.2 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UHRF1BP1 31 30
  • 88.92 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uhrf1bp1 30
  • 83.44 (n)
mouse
(Mus musculus)
Mammalia Uhrf1bp1 17 31 30
  • 83.33 (n)
oppossum
(Monodelphis domestica)
Mammalia UHRF1BP1 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UHRF1BP1 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves UHRF1BP1 31 30
  • 67.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UHRF1BP1 31
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.4421 30
zebrafish
(Danio rerio)
Actinopterygii uhrf1bp1 31 30
  • 57.22 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG34126 31
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C44H4.4 31
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 20 (a)
OneToMany
Species where no ortholog for UHRF1BP1 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for UHRF1BP1 Gene

ENSEMBL:
Gene Tree for UHRF1BP1 (if available)
TreeFam:
Gene Tree for UHRF1BP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UHRF1BP1: view image

Paralogs for UHRF1BP1 Gene

Paralogs for UHRF1BP1 Gene

(3) SIMAP similar genes for UHRF1BP1 Gene using alignment to 3 proteins:

  • URFB1_HUMAN
  • B2RNT9_HUMAN
  • H7C1J4_HUMAN
genes like me logo Genes that share paralogs with UHRF1BP1: view

Variants for UHRF1BP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UHRF1BP1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs11755393 - p.Gln454Arg
rs13205210 - p.Met1098Thr
rs16894945 - p.Lys404Asn
rs3734265 - p.Lys854Glu
rs9469913 - p.Gln984His

Additional dbSNP identifiers (rs#s) for UHRF1BP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for UHRF1BP1 Gene

Variant ID Type Subtype PubMed ID
dgv5955n100 CNV gain 25217958
esv2667103 CNV deletion 23128226
esv2763967 CNV gain 21179565
esv3608672 CNV loss 21293372
nsv1016703 CNV loss 25217958
nsv1026121 CNV gain 25217958
nsv1117613 CNV deletion 24896259
nsv1124048 CNV deletion 24896259
nsv462905 CNV gain 19166990
nsv508402 CNV deletion 20534489
nsv602906 CNV gain 21841781

Variation tolerance for UHRF1BP1 Gene

Residual Variation Intolerance Score: 77.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.37; 97.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UHRF1BP1 Gene

Human Gene Mutation Database (HGMD)
UHRF1BP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UHRF1BP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UHRF1BP1 Gene

Disorders for UHRF1BP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for UHRF1BP1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UHRF1BP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UHRF1BP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UHRF1BP1 Gene

Publications for UHRF1BP1 Gene

  1. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. (PMID: 19838195) Gateva V … Graham RR (Nature genetics 2009) 3 41 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. ICBP90, an E2F-1 target, recruits HDAC1 and binds to methyl-CpG through its SRA domain. (PMID: 15361834) Unoki M … Nakamura Y (Oncogene 2004) 3 4 54
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 54
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54

Products for UHRF1BP1 Gene

Sources for UHRF1BP1 Gene