Aliases for PHLDB1 Gene

Aliases for PHLDB1 Gene

  • Pleckstrin Homology Like Domain Family B Member 1 2 3 5
  • Pleckstrin Homology-Like Domain Family B Member 1 3 4
  • 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
  • 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 Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHLDB1 Gene

Genomics for PHLDB1 Gene

GeneHancer (GH) Regulatory Elements for PHLDB1 Gene

Promoters and enhancers for PHLDB1 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 PHLDB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PHLDB1 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • C/EBPalpha
  • HOXA5

Genomic Locations for PHLDB1 Gene

Genomic Locations for PHLDB1 Gene
chr11:118,606,439-118,658,038
(GRCh38/hg38)
Size:
51,600 bases
Orientation:
Plus strand
chr11:118,477,155-118,528,741
(GRCh37/hg19)
Size:
51,587 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

GenScript: Design optimal peptide antigens:
  • Protein LL5-alpha (PHLB1_HUMAN)
  • KIAA0638 splice variant 2 (Q5W9G0_HUMAN)
  • PHLDB1 protein (Q96D60_HUMAN)

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

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 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 3
cytosol 3
golgi apparatus 0

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 IBA,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

PathCards logo

SuperPathways for PHLDB1 Gene

No Data Available

Interacting Proteins for PHLDB1 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000354498 Q86UU1-PHLB1_HUMAN for PHLDB1 Gene via STRING 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 IBA,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

mRNA/cDNA for PHLDB1 Gene

CRISPR Products

Clone Products

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

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 32
  • 99.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PHLDB1 33 32
  • 90.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phldb1 32
  • 87.49 (n)
mouse
(Mus musculus)
Mammalia Phldb1 17 33 32
  • 87.41 (n)
dog
(Canis familiaris)
Mammalia PHLDB1 33 32
  • 84.48 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHLDB1 33
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHLDB1 33
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHLDB1 33 32
  • 72.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHLDB1 33
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phldb1 32
  • 63.82 (n)
Str.7477 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.14334 32
zebrafish
(Danio rerio)
Actinopterygii LOC570275 32
  • 63.04 (n)
phldb1b 33
  • 52 (a)
OneToMany
phldb1a 33
  • 43 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5004 33
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5769 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PHLDB1: view image

Paralogs for PHLDB1 Gene

Paralogs for PHLDB1 Gene

(6) SIMAP similar genes for PHLDB1 Gene using alignment to 7 proteins:

  • PHLB1_HUMAN
  • B0YJ65_HUMAN
  • E9PKC1_HUMAN
  • E9PMZ5_HUMAN
  • H0YCP1_HUMAN
  • Q96C94_HUMAN
  • Q96D60_HUMAN
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 Variation AA Info Type
rs1000006153 -- 118,642,106(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000154796 -- 118,619,360(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000190209 -- 118,638,557(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000269510 -- 118,657,612(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000357203 -- 118,650,810(+) A/G genic_downstream_transcript_variant, 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)

Additional Variant Information 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

Additional Disease Information for PHLDB1

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

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 23 56
  2. Chromosome 7p11.2 (EGFR) variation influences glioma risk. (PMID: 21531791) Sanson M … Simon M (Human molecular genetics 2011) 3 43 56
  3. Interaction between 5 genetic variants and allergy in glioma risk. (PMID: 20462933) Schoemaker MJ … Swerdlow AJ (American journal of epidemiology 2010) 3 43 56
  4. 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 43 56
  5. Genome-wide association study identifies five susceptibility loci for glioma. (PMID: 19578367) Shete S … Houlston RS (Nature genetics 2009) 3 43 56

Products for PHLDB1 Gene

Sources for PHLDB1 Gene