Aliases for PCP4L1 Gene

Aliases for PCP4L1 Gene

  • Purkinje Cell Protein 4 Like 1 2 2 3 5
  • IQM1 2 3 4
  • Purkinje Cell Protein 4-Like Protein 1 3 4
  • PCP4-Like Protein 1 3 4
  • PCP4L1 5

External Ids for PCP4L1 Gene

Previous GeneCards Identifiers for PCP4L1 Gene

  • GC01P159496
  • GC01P161228
  • GC01P132585

Summaries for PCP4L1 Gene

GeneCards Summary for PCP4L1 Gene

PCP4L1 (Purkinje Cell Protein 4 Like 1) is a Protein Coding gene. Diseases associated with PCP4L1 include Corneal Dystrophy, Congenital Stromal. An important paralog of this gene is PCP4.

Additional gene information for PCP4L1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCP4L1 Gene

Genomics for PCP4L1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PCP4L1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J161258 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 606.5 0.0 -33 1 SP1 PRDM10 PKNOX1 POLR2A PATZ1 EZH2 PBX2 SP2 GATAD2B ZNF444 PCP4L1 FCER1G NDUFS2 piR-49156-004 NR1I3
GH01J161304 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 11.3 +47.5 47534 3.3 CREB1 CTCF ATF7 IKZF1 KDM1A BACH1 JUND PKNOX1 POLR2A SMAD5 lnc-CFAP126-2 FCER1G NDUFS2 NR1I3 TOMM40L APOA2 PCP4L1 SDHC HSPA7 FCGR2C
GH01J162021 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.8 +764.2 764206 3.9 PRDM10 ZNF629 ZNF692 PRDM1 ZIC2 PATZ1 CTCF ZNF501 POLR2A EZH2 OLFML2B DUSP12 USP21 PPOX PCP4L1 UHMK1 piR-30182 ATF6
GH01J161350 Enhancer 0.7 FANTOM5 Ensembl 11 +92.6 92566 2.2 ZNF316 MAFG CEBPB EMSY SDHC NR1I3 APOA2 TOMM40L MPZ NDUFS2 ADAMTS4 PCP4L1 NECTIN4 ENSG00000228917
GH01J161193 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 2.5 -60.1 -60056 10.8 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 REST TFE3 SIX5 IKZF1 NDUFS2 ADAMTS4 DUSP12 B4GALT3 USP21 PPOX ENSG00000228606 DCAF8 NIT1 TOMM40L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCP4L1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCP4L1

Top Transcription factor binding sites by QIAGEN in the PCP4L1 gene promoter:
  • aMEF-2
  • FOXF2
  • MEF-2
  • MEF-2A
  • MIF-1
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2
  • RREB-1
  • YY1

Genomic Locations for PCP4L1 Gene

Genomic Locations for PCP4L1 Gene
26,717 bases
Plus strand
26,724 bases
Plus strand

Genomic View for PCP4L1 Gene

Genes around PCP4L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCP4L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCP4L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCP4L1 Gene

Proteins for PCP4L1 Gene

  • Protein details for PCP4L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Purkinje cell protein 4-like protein 1
    Protein Accession:
    Secondary Accessions:
    • B2RV24
    • B9EJG4

    Protein attributes for PCP4L1 Gene

    68 amino acids
    Molecular mass:
    7476 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PCP4L1 Gene

Post-translational modifications for PCP4L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PCP4L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCP4L1 Gene

Domains & Families for PCP4L1 Gene

Gene Families for PCP4L1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PCP4L1 Gene


Suggested Antigen Peptide Sequences for PCP4L1 Gene

GenScript: Design optimal peptide antigens:
  • Purkinje cell protein 4-like protein 1 (PC4L1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PCP4 family.
  • Belongs to the PCP4 family.
genes like me logo Genes that share domains with PCP4L1: view

Function for PCP4L1 Gene

Phenotypes From GWAS Catalog for PCP4L1 Gene

Phenotypes for PCP4L1 Gene

genes like me logo Genes that share phenotypes with PCP4L1: view

Animal Model Products

CRISPR Products

miRNA for PCP4L1 Gene

miRTarBase miRNAs that target PCP4L1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCP4L1

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 PCP4L1 Gene

Localization for PCP4L1 Gene

Subcellular locations from

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 PCP4L1 gene
Compartment Confidence
plasma membrane 1
extracellular 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PCP4L1 Gene

Pathways & Interactions for PCP4L1 Gene

PathCards logo

SuperPathways for PCP4L1 Gene

No Data Available

Interacting Proteins for PCP4L1 Gene

Selected Interacting proteins: A6NKN8-PC4L1_HUMAN for PCP4L1 Gene via IID

Gene Ontology (GO) - Biological Process for PCP4L1 Gene


No data available for Pathways by source and SIGNOR curated interactions for PCP4L1 Gene

Drugs & Compounds for PCP4L1 Gene

No Compound Related Data Available

Transcripts for PCP4L1 Gene

mRNA/cDNA for PCP4L1 Gene

6 NCBI additional mRNA sequence :
1 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 PCP4L1

Alternative Splicing Database (ASD) splice patterns (SP) for PCP4L1 Gene

No ASD Table

Relevant External Links for PCP4L1 Gene

GeneLoc Exon Structure for

Expression for PCP4L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCP4L1 Gene

mRNA differential expression in normal tissues according to GTEx for PCP4L1 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x11.1), Brain - Caudate (basal ganglia) (x9.8), and Brain - Putamen (basal ganglia) (x9.7).

Protein differential expression in normal tissues from HIPED for PCP4L1 Gene

This gene is overexpressed in Nasal epithelium (64.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PCP4L1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCP4L1

SOURCE GeneReport for Unigene cluster for PCP4L1 Gene:

genes like me logo Genes that share expression patterns with PCP4L1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 PCP4L1 Gene

Orthologs for PCP4L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCP4L1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PCP4L1 30 31
  • 100 (n)
(Bos Taurus)
Mammalia PCP4L1 31
  • 91 (a)
(Mus musculus)
Mammalia Pcp4l1 31
  • 85 (a)
(Monodelphis domestica)
Mammalia PCP4L1 31
  • 79 (a)
(Canis familiaris)
Mammalia PCP4L1 31
  • 40 (a)
(Danio rerio)
Actinopterygii pcp4l1 31
  • 48 (a)
Species where no ortholog for PCP4L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)

Evolution for PCP4L1 Gene

Gene Tree for PCP4L1 (if available)
Gene Tree for PCP4L1 (if available)
Evolutionary constrained regions (ECRs) for PCP4L1: view image

Paralogs for PCP4L1 Gene

Paralogs for PCP4L1 Gene

(1) SIMAP similar genes for PCP4L1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PCP4L1: view

Variants for PCP4L1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCP4L1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
773286 Benign: not provided 161,284,466(+) G/A SYNONYMOUS_VARIANT
786472 Benign: not provided 161,283,731(+) G/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PCP4L1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PCP4L1 Gene

Variant ID Type Subtype PubMed ID
esv1486999 CNV deletion 17803354
esv3587726 CNV gain 21293372
nsv1144409 CNV deletion 24896259
nsv520253 CNV loss 19592680
nsv523318 CNV loss 19592680

Variation tolerance for PCP4L1 Gene

Residual Variation Intolerance Score: 56.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.19; 23.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCP4L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCP4L1 Gene

Disorders for PCP4L1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PCP4L1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
corneal dystrophy, congenital stromal
  • cscd
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PCP4L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCP4L1 Gene

Publications for PCP4L1 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  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
  3. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PMID: 22589738) Fox CS … Borecki IB (PLoS genetics 2012) 3
  4. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PMID: 21565611) Sang L … Jackson PK (Cell 2011) 3
  5. Identification of candidate genes for human pituitary development by EST analysis. (PMID: 19284880) Ma Y … Hao X (BMC genomics 2009) 3

Products for PCP4L1 Gene

Sources for PCP4L1 Gene