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Aliases for UHRF1BP1L Gene

Aliases for UHRF1BP1L Gene

  • UHRF1 Binding Protein 1 Like 2 3 5
  • Syntaxin 6Habc-Interacting Protein Of 164 KDa 3
  • UHRF1 (ICBP90) Binding Protein 1-Like 3
  • UHRF1-Binding Protein 1-Like 3
  • KIAA0701 4
  • SHIP164 3

External Ids for UHRF1BP1L Gene

Previous GeneCards Identifiers for UHRF1BP1L Gene

  • GC12M098954
  • GC12M100430
  • GC12M097492

Summaries for UHRF1BP1L Gene

GeneCards Summary for UHRF1BP1L Gene

UHRF1BP1L (UHRF1 Binding Protein 1 Like) is a Protein Coding gene. Diseases associated with UHRF1BP1L include Leukodystrophy, Hypomyelinating, 6. An important paralog of this gene is UHRF1BP1.

Additional gene information for UHRF1BP1L Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UHRF1BP1L Gene

Genomics for UHRF1BP1L Gene

GeneHancer (GH) Regulatory Elements for UHRF1BP1L Gene

Promoters and enhancers for UHRF1BP1L 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
GH12I100141 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 555.7 +0.5 501 2.7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 UHRF1BP1L ENSG00000257696 GOLGA2P5 GC12P100116
GH12I100137 Enhancer 0.8 Ensembl ENCODE 9.4 +4.1 4070 2 SMARCA5 CTCF ZNF777 PAX8 RAD21 ZNF335 GATA3 ZBTB48 ZNF143 ZNF600 UHRF1BP1L ANKS1B GOLGA2P5 GC12P100116
GH12I100185 Enhancer 0.5 Ensembl 11.4 -42.7 -42737 0.8 POLR2A RCOR1 EBF1 CHD2 SPI1 UHRF1BP1L DEPDC4 SCYL2 MIR1827 PIR35895 ENSG00000257489
GH12I100127 Enhancer 1 Ensembl ENCODE 5.1 +14.3 14266 2 ELF3 SMAD1 FOXA2 ARNT ARID4B MZF1 ZNF2 RAD21 ZNF766 CREM GOLGA2P5 ACTR6 UHRF1BP1L GC12P100116
GH12I100163 Enhancer 1 Ensembl ENCODE 4.9 -21.2 -21185 1.2 PKNOX1 SIN3A FEZF1 ZBTB7B ZNF335 ZNF143 SMARCA5 SP3 ELF1 SREBF1 GC12M100393 PIR55599 PIR55619 PIR56508 PIR50064 PIR42520 PIR50984 PIR48175 GOLGA2P5 ACTR6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UHRF1BP1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UHRF1BP1L gene promoter:

Genomic Locations for UHRF1BP1L Gene

Genomic Locations for UHRF1BP1L Gene
chr12:100,028,455-100,142,864
(GRCh38/hg38)
Size:
114,410 bases
Orientation:
Minus strand
chr12:100,422,233-100,536,642
(GRCh37/hg19)

Genomic View for UHRF1BP1L Gene

Genes around UHRF1BP1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UHRF1BP1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UHRF1BP1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UHRF1BP1L Gene

Proteins for UHRF1BP1L Gene

  • Protein details for UHRF1BP1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0JNW5-UH1BL_HUMAN
    Recommended name:
    UHRF1-binding protein 1-like
    Protein Accession:
    A0JNW5
    Secondary Accessions:
    • A0PJE5
    • O75183
    • Q8NDL1
    • Q96C30
    • Q9BTS5
    • Q9H0F1

    Protein attributes for UHRF1BP1L Gene

    Size:
    1464 amino acids
    Molecular mass:
    164199 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI27018.1; Type=Frameshift; Positions=1004; Evidence={ECO:0000305}; Sequence=CAB66755.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for UHRF1BP1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UHRF1BP1L Gene

Post-translational modifications for UHRF1BP1L Gene

No Post-translational modifications

No data available for DME Specific Peptides for UHRF1BP1L Gene

Domains & Families for UHRF1BP1L Gene

Gene Families for UHRF1BP1L Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for UHRF1BP1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UHRF1BP1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with UHRF1BP1L: view

No data available for UniProtKB/Swiss-Prot for UHRF1BP1L Gene

Function for UHRF1BP1L Gene

Phenotypes From GWAS Catalog for UHRF1BP1L Gene

genes like me logo Genes that share phenotypes with UHRF1BP1L: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UHRF1BP1L Gene

Localization for UHRF1BP1L 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 UHRF1BP1L gene
Compartment Confidence
plasma membrane 4
mitochondrion 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for UHRF1BP1L Gene

Pathways & Interactions for UHRF1BP1L Gene

SuperPathways for UHRF1BP1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for UHRF1BP1L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for UHRF1BP1L Gene

Drugs & Compounds for UHRF1BP1L Gene

No Compound Related Data Available

Transcripts for UHRF1BP1L Gene

Unigene Clusters for UHRF1BP1L Gene

UHRF1 binding protein 1-like:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UHRF1BP1L Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
SP1: -
SP2: - -
SP3: -
SP4:

Relevant External Links for UHRF1BP1L Gene

GeneLoc Exon Structure for
UHRF1BP1L
ECgene alternative splicing isoforms for
UHRF1BP1L

Expression for UHRF1BP1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UHRF1BP1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UHRF1BP1L Gene

This gene is overexpressed in Brain (34.1) and Liver (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UHRF1BP1L Gene



NURSA nuclear receptor signaling pathways regulating expression of UHRF1BP1L Gene:

UHRF1BP1L

SOURCE GeneReport for Unigene cluster for UHRF1BP1L Gene:

Hs.620701
genes like me logo Genes that share expression patterns with UHRF1BP1L: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for UHRF1BP1L Gene

Orthologs for UHRF1BP1L Gene

This gene was present in the common ancestor of animals.

Orthologs for UHRF1BP1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UHRF1BP1L 33 34
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia UHRF1BP1L 33 34
  • 91.65 (n)
cow
(Bos Taurus)
Mammalia UHRF1BP1L 33 34
  • 91.41 (n)
mouse
(Mus musculus)
Mammalia Uhrf1bp1l 33 16 34
  • 84.03 (n)
rat
(Rattus norvegicus)
Mammalia Uhrf1bp1l 33
  • 83.28 (n)
oppossum
(Monodelphis domestica)
Mammalia UHRF1BP1L 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UHRF1BP1L 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves UHRF1BP1L 33 34
  • 71.9 (n)
lizard
(Anolis carolinensis)
Reptilia UHRF1BP1L 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uhrf1bp1l 33
  • 64.03 (n)
Str.17738 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5017 33
zebrafish
(Danio rerio)
Actinopterygii uhrf1bp1l 33 34
  • 59.55 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG34126 33 34
  • 43.7 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008379 33
  • 43.21 (n)
worm
(Caenorhabditis elegans)
Secernentea C44H4.4 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
OneToMany
Species where no ortholog for UHRF1BP1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 UHRF1BP1L Gene

ENSEMBL:
Gene Tree for UHRF1BP1L (if available)
TreeFam:
Gene Tree for UHRF1BP1L (if available)

Paralogs for UHRF1BP1L Gene

Paralogs for UHRF1BP1L Gene

(2) SIMAP similar genes for UHRF1BP1L Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with UHRF1BP1L: view

Variants for UHRF1BP1L Gene

Sequence variations from dbSNP and Humsavar for UHRF1BP1L Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000032100 -- 100,032,769(-) A/C genic_downstream_transcript_variant, intron_variant
rs1000045654 -- 100,041,756(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000069958 -- 100,130,996(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000077599 -- 100,112,386(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000092507 -- 100,072,161(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UHRF1BP1L Gene

Variant ID Type Subtype PubMed ID
dgv2826n54 CNV loss 21841781
esv2664572 CNV deletion 23128226
esv2746274 CNV deletion 23290073
esv3021 CNV loss 18987735
esv3549672 CNV deletion 23714750
esv3580425 CNV loss 25503493
esv3630541 CNV gain 21293372
esv3630546 CNV loss 21293372
esv3630548 CNV loss 21293372
esv3892256 CNV loss 25118596
nsv1048784 CNV gain 25217958
nsv1119979 CNV deletion 24896259
nsv518866 CNV loss 19592680
nsv523049 CNV loss 19592680
nsv559964 CNV gain 21841781
nsv559994 CNV loss 21841781

Variation tolerance for UHRF1BP1L Gene

Residual Variation Intolerance Score: 69.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.17; 75.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UHRF1BP1L Gene

Human Gene Mutation Database (HGMD)
UHRF1BP1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UHRF1BP1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UHRF1BP1L Gene

Disorders for UHRF1BP1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for UHRF1BP1L Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 6
  • hld6
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UHRF1BP1L

genes like me logo Genes that share disorders with UHRF1BP1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UHRF1BP1L Gene

Publications for UHRF1BP1L Gene

  1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58

Products for UHRF1BP1L Gene

Sources for UHRF1BP1L Gene

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