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Aliases for PHLDB1 Gene

Aliases for PHLDB1 Gene

  • Pleckstrin Homology Like Domain Family B Member 1 2 3 5
  • Protein LL5-Alpha 3 4
  • LL5A 3 4
  • Pleckstrin Homology-Like Domain Family B Member 1 Variant 3 3
  • Pleckstrin Homology-Like Domain Family B Member 1 Variant 4 3
  • Pleckstrin Homology-Like Domain, Family B, Member 1 2
  • Pleckstrin Homology-Like Domain Family B Member 1 3
  • LL5alpha 3
  • KIAA0638 4

External Ids for PHLDB1 Gene

Previous GeneCards Identifiers for PHLDB1 Gene

  • GC11P118014
  • GC11P117982
  • GC11P118478
  • GC11P114414

Summaries for PHLDB1 Gene

GeneCards Summary for PHLDB1 Gene

PHLDB1 (Pleckstrin Homology Like Domain Family B Member 1) is a Protein Coding gene. An important paralog of this gene is PHLDB2.

Gene Wiki entry for PHLDB1 Gene

Additional gene information for PHLDB1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHLDB1 Gene

Genomics for PHLDB1 Gene

Regulatory Elements for PHLDB1 Gene

Enhancers for PHLDB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H118868 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +263.4 263366 3 PKNOX1 ATF1 TBL1XR1 BATF ZBTB40 RAD21 YY1 RUNX3 CREM REST DDX6 CCDC84 TREHP1 UPK2 ENSG00000222529 FOXR1 BCL9L RN7SL688P ENSG00000255176 PHLDB1
GH11H118874 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.4 +270.9 270907 5 HDAC1 HDGF PKNOX1 ZBTB7B ZNF766 GATA2 ZNF366 ZNF207 ATF7 ETV6 BCL9L DDX6 ENSG00000254909 UBE4A ARCN1 RPL23AP64 ENSG00000254428 MPZL2 DPAGT1 RPS25
GH11H118633 1.5 Ensembl ENCODE dbSUPER 11.1 +28.9 28928 3 HDGF YBX1 GLIS2 FOS KLF7 SP3 SP5 REST ZNF623 ZNF592 TREHP1 LOC105369519 TREH PHLDB1 UPK2 RN7SL688P BCL9L IFT46 ENSG00000255176
GH11H118603 2 FANTOM5 Ensembl ENCODE dbSUPER 7.8 +2.2 2189 9 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF207 ZNF143 FOS IFT46 TREHP1 KMT2A VPS11 LOC105369519 HINFP CCDC84 TREH SETP16 ENSG00000254892
GH11H118872 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.4 +266.3 266269 1 MAZ TBL1XR1 ZBED1 BACH1 JUNB BATF ZNF217 EED IKZF1 ETV6 UPK2 BCL9L RN7SL688P PHLDB1 TREH CXCR5 ATP5L KMT2A CCDC84 RPS25
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHLDB1 on UCSC Golden Path with GeneCards custom track

Promoters for PHLDB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000045652 1561 1201 ATF1 ARID4B SIN3A GLIS2 ZNF143 FOS KLF7 ATF7 SP3 REST

Genomic Location for PHLDB1 Gene

Chromosome:
11
Start:
118,606,439 bp from pter
End:
118,658,038 bp from pter
Size:
51,600 bases
Orientation:
Plus strand

Genomic View for PHLDB1 Gene

Genes around PHLDB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHLDB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHLDB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHLDB1 Gene

Proteins for PHLDB1 Gene

  • Protein details for PHLDB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UU1-PHLB1_HUMAN
    Recommended name:
    Pleckstrin homology-like domain family B member 1
    Protein Accession:
    Q86UU1
    Secondary Accessions:
    • B0YJ63
    • B0YJ64
    • O75133
    • Q4KMF8
    • Q8TEQ2

    Protein attributes for PHLDB1 Gene

    Size:
    1377 amino acids
    Molecular mass:
    151162 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA31613.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB84896.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for PHLDB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHLDB1 Gene

Post-translational modifications for PHLDB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PHLDB1 Gene

Domains & Families for PHLDB1 Gene

Gene Families for PHLDB1 Gene

Protein Domains for PHLDB1 Gene

Suggested Antigen Peptide Sequences for PHLDB1 Gene

Graphical View of Domain Structure for InterPro Entry

Q86UU1

UniProtKB/Swiss-Prot:

PHLB1_HUMAN :
  • The PH domain mediates the binding to phosphoinositides.
Domain:
  • The PH domain mediates the binding to phosphoinositides.
genes like me logo Genes that share domains with PHLDB1: view

Function for PHLDB1 Gene

Phenotypes From GWAS Catalog for PHLDB1 Gene

genes like me logo Genes that share phenotypes with PHLDB1: view

Animal Model Products

CRISPR Products

miRNA for PHLDB1 Gene

miRTarBase miRNAs that target PHLDB1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PHLDB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 PHLDB1 Gene

Localization for PHLDB1 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 PHLDB1 gene
Compartment Confidence
nucleus 4
cytosol 3
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PHLDB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045180 basal cortex IDA 23940118
genes like me logo Genes that share ontologies with PHLDB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PHLDB1 Gene

Pathways & Interactions for PHLDB1 Gene

SuperPathways for PHLDB1 Gene

No Data Available

Interacting Proteins for PHLDB1 Gene

Selected Interacting proteins: Q86UU1-PHLB1_HUMAN for PHLDB1 Gene via IID

Gene Ontology (GO) - Biological Process for PHLDB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010470 regulation of gastrulation IMP 23940118
GO:0010717 regulation of epithelial to mesenchymal transition IMP 23940118
GO:0070507 regulation of microtubule cytoskeleton organization IGI 23940118
GO:1904261 positive regulation of basement membrane assembly involved in embryonic body morphogenesis IMP 23940118
genes like me logo Genes that share ontologies with PHLDB1: view

No data available for Pathways by source and SIGNOR curated interactions for PHLDB1 Gene

Drugs & Compounds for PHLDB1 Gene

No Compound Related Data Available

Transcripts for PHLDB1 Gene

Unigene Clusters for PHLDB1 Gene

Pleckstrin homology-like domain, family B, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PHLDB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PHLDB1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^
SP1:
SP2: - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - -
SP6:
SP7:
SP8:
SP9: - - -
SP10: -
SP11:
SP12:
SP13:
SP14: -
SP15: -
SP16:
SP17:
SP18:
SP19:

ExUns: 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b
SP1: - -
SP2: - - - - - - - - - - - - -
SP3:
SP4:
SP5:
SP6:
SP7: - -
SP8: - -
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: - -
SP19:

Relevant External Links for PHLDB1 Gene

GeneLoc Exon Structure for
PHLDB1
ECgene alternative splicing isoforms for
PHLDB1

Expression for PHLDB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHLDB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PHLDB1 Gene

This gene is overexpressed in Adrenal (23.5), Gallbladder (10.2), and Cervix (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PHLDB1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PHLDB1 Gene:

PHLDB1

SOURCE GeneReport for Unigene cluster for PHLDB1 Gene:

Hs.504062

Evidence on tissue expression from TISSUES for PHLDB1 Gene

  • Nervous system(4.9)
  • Spleen(4.3)
  • Liver(4.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with PHLDB1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PHLDB1 Gene

Orthologs for PHLDB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHLDB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHLDB1 33 34
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia PHLDB1 33 34
  • 90.29 (n)
rat
(Rattus norvegicus)
Mammalia Phldb1 33
  • 87.49 (n)
mouse
(Mus musculus)
Mammalia Phldb1 33 16 34
  • 87.41 (n)
dog
(Canis familiaris)
Mammalia PHLDB1 33 34
  • 84.48 (n)
oppossum
(Monodelphis domestica)
Mammalia PHLDB1 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHLDB1 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHLDB1 33 34
  • 72.32 (n)
lizard
(Anolis carolinensis)
Reptilia PHLDB1 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phldb1 33
  • 63.82 (n)
Str.7477 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14334 33
zebrafish
(Danio rerio)
Actinopterygii LOC570275 33
  • 63.04 (n)
phldb1b 34
  • 52 (a)
OneToMany
phldb1a 34
  • 43 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5004 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5769 34
  • 31 (a)
OneToMany
Species where no ortholog for PHLDB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PHLDB1 Gene

ENSEMBL:
Gene Tree for PHLDB1 (if available)
TreeFam:
Gene Tree for PHLDB1 (if available)

Paralogs for PHLDB1 Gene

Paralogs for PHLDB1 Gene

genes like me logo Genes that share paralogs with PHLDB1: view

Variants for PHLDB1 Gene

Sequence variations from dbSNP and Humsavar for PHLDB1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000006153 -- 118,642,106(+) CTGAT(A/G)TGGCC intron-variant, upstream-variant-2KB
rs1000154796 -- 118,619,360(+) GGAGC(C/T)GGATC intron-variant
rs1000190209 -- 118,638,557(+) TTTGG(A/G)TGGTG intron-variant
rs1000269510 -- 118,657,612(+) GTGCC(C/T)TGCTT nc-transcript-variant, utr-variant-3-prime
rs1000357203 -- 118,650,810(+) GAGTA(A/G)GATGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PHLDB1 Gene

Variant ID Type Subtype PubMed ID
dgv234e214 CNV gain 21293372
esv25329 CNV loss 19812545
esv2675396 CNV deletion 23128226
esv3627874 CNV loss 21293372
nsv1136141 CNV deletion 24896259
nsv527864 CNV loss 19592680
nsv556465 CNV loss 21841781
nsv832283 CNV loss 17160897

Variation tolerance for PHLDB1 Gene

Residual Variation Intolerance Score: 28.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.39; 71.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHLDB1 Gene

Human Gene Mutation Database (HGMD)
PHLDB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHLDB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHLDB1 Gene

Disorders for PHLDB1 Gene

Relevant External Links for PHLDB1

Genetic Association Database (GAD)
PHLDB1
Human Genome Epidemiology (HuGE) Navigator
PHLDB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHLDB1

No disorders were found for PHLDB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PHLDB1 Gene

Publications for PHLDB1 Gene

  1. Identification and characterization of human LL5A gene and mouse Ll5a gene in silico. (PMID: 14532993) Katoh M … Katoh M (International journal of oncology 2003) 2 3 4 22 60
  2. Chromosome 7p11.2 (EGFR) variation influences glioma risk. (PMID: 21531791) Sanson M … Simon M (Human molecular genetics 2011) 3 45 60
  3. Genetic risk profiles identify different molecular etiologies for glioma. (PMID: 20847058) Simon M … Sanson M (Clinical cancer research : an official journal of the American Association for Cancer Research 2010) 3 45 60
  4. Interaction between 5 genetic variants and allergy in glioma risk. (PMID: 20462933) Schoemaker MJ … Swerdlow AJ (American journal of epidemiology 2010) 3 45 60
  5. Genome-wide association study identifies five susceptibility loci for glioma. (PMID: 19578367) Shete S … Houlston RS (Nature genetics 2009) 3 45 60

Products for PHLDB1 Gene

Sources for PHLDB1 Gene

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