Aliases for LKAAEAR1 Gene

Aliases for LKAAEAR1 Gene

  • LKAAEAR Motif Containing 1 2 3 5
  • LKAAEAR Motif-Containing Protein 1 3 4
  • Protein LKAAEAR1 3 4
  • C20orf201 3 4
  • Chromosome 20 Open Reading Frame 201 2
  • BA299N6.3 3

External Ids for LKAAEAR1 Gene

Previous HGNC Symbols for LKAAEAR1 Gene

  • C20orf201

Previous GeneCards Identifiers for LKAAEAR1 Gene

  • GC20M062722

Summaries for LKAAEAR1 Gene

GeneCards Summary for LKAAEAR1 Gene

LKAAEAR1 (LKAAEAR Motif Containing 1) is a Protein Coding gene.

Additional gene information for LKAAEAR1 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 LKAAEAR1 Gene

Genomics for LKAAEAR1 Gene

GeneHancer (GH) Regulatory Elements for LKAAEAR1 Gene

Promoters and enhancers for LKAAEAR1 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
GH20J064076 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 500.7 +4.6 4583 8.9 HNRNPK ZBTB40 CTCF SIN3A NRF1 POLR2G SP1 PHF8 ZIC2 POLR2A RGS19 OPRL1 LKAAEAR1 lnc-LKAAEAR1-2 RTEL1 ARFGAP1 YTHDF1 TNFRSF6B ARFRP1 TCEA2
GH20J063893 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +188.6 188595 5.1 EP300 ZNF217 SIN3A NRF1 MYC POLR2G SP1 NCOR1 ZNF10 ZIC2 DNAJC5 lnc-DNAJC5-1 DIDO1 UCKL1 MIR647 GMEB2 PRPF6 RGS19 RTEL1 ENSG00000237371
GH20J063903 Promoter/Enhancer 0.8 Ensembl dbSUPER 10.2 +184.1 184143 0.8 ZNF341 ZBTB17 SPI1 POLR2A CEBPB RBFOX2 FNDC11 SRMS ZBTB46 ZBTB46-AS1 ENSG00000229299 C20orf181 OPRL1 RGS19 LKAAEAR1 DNAJC5
GH20J064111 Enhancer 0.6 Ensembl 12.2 -27.3 -27280 1.2 ZFP36 MEF2B SPI1 ZFHX2 BCOR EBF1 TAF15 NR2F1 SMARCA4 ZMYM3 RGS19 LKAAEAR1 OPRL1 NPBWR2 MYT1 RF00017-3663
GH20J064158 Enhancer 0.6 dbSUPER 10.6 -74.2 -74190 0.9 RFX1 CREB1 ZNF316 MAFK NFE2 ZFHX2 PKNOX1 FOSL2 JUND MNT lnc-NPBWR2-2 LKAAEAR1 OPRL1 RGS19 piR-34822-199 MYT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LKAAEAR1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LKAAEAR1

Genomic Locations for LKAAEAR1 Gene

Genomic Locations for LKAAEAR1 Gene
chr20:64,083,376-64,085,144
(GRCh38/hg38)
Size:
1,769 bases
Orientation:
Minus strand
chr20:62,714,733-62,715,712
(GRCh37/hg19)
Size:
980 bases
Orientation:
Minus strand

Genomic View for LKAAEAR1 Gene

Genes around LKAAEAR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LKAAEAR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LKAAEAR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LKAAEAR1 Gene

Proteins for LKAAEAR1 Gene

  • Protein details for LKAAEAR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TD35-LKAM1_HUMAN
    Recommended name:
    Protein LKAAEAR1
    Protein Accession:
    Q8TD35
    Secondary Accessions:
    • Q8N419
    • Q8TD36

    Protein attributes for LKAAEAR1 Gene

    Size:
    194 amino acids
    Molecular mass:
    21508 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LKAAEAR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LKAAEAR1 Gene

Post-translational modifications for LKAAEAR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LKAAEAR1 Gene

No data available for DME Specific Peptides for LKAAEAR1 Gene

Domains & Families for LKAAEAR1 Gene

Gene Families for LKAAEAR1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LKAAEAR1 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with LKAAEAR1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LKAAEAR1 Gene

Function for LKAAEAR1 Gene

Phenotypes From GWAS Catalog for LKAAEAR1 Gene

genes like me logo Genes that share phenotypes with LKAAEAR1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LKAAEAR1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LKAAEAR1 Gene

Localization for LKAAEAR1 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 LKAAEAR1 gene
Compartment Confidence
extracellular 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for LKAAEAR1 Gene

Pathways & Interactions for LKAAEAR1 Gene

PathCards logo

SuperPathways for LKAAEAR1 Gene

No Data Available

Interacting Proteins for LKAAEAR1 Gene

;

Gene Ontology (GO) - Biological Process for LKAAEAR1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LKAAEAR1 Gene

Drugs & Compounds for LKAAEAR1 Gene

(1) Drugs for LKAAEAR1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
opioids Pharma 0
genes like me logo Genes that share compounds with LKAAEAR1: view

Transcripts for LKAAEAR1 Gene

mRNA/cDNA for LKAAEAR1 Gene

2 REFSEQ mRNAs :
1 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 LKAAEAR1

Alternative Splicing Database (ASD) splice patterns (SP) for LKAAEAR1 Gene

No ASD Table

Relevant External Links for LKAAEAR1 Gene

GeneLoc Exon Structure for
LKAAEAR1

Expression for LKAAEAR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LKAAEAR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LKAAEAR1 Gene

This gene is overexpressed in Testis (x24.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LKAAEAR1

genes like me logo Genes that share expression patterns with LKAAEAR1: view

No data available for Protein differential expression in normal tissues , Protein expression , 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 LKAAEAR1 Gene

Orthologs for LKAAEAR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LKAAEAR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LKAAEAR1 30
  • 99.18 (n)
C20orf201 31
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LKAAEAR1 30
  • 83.92 (n)
C20orf201 31
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306208 30
  • 71.76 (n)
mouse
(Mus musculus)
Mammalia 4930526D03Rik 31 30
  • 70.26 (n)
OneToOne
Lkaaear1 17
dog
(Canis familiaris)
Mammalia C20orf201 31
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C20orf201 31
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C20orf201 31
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 26 (a)
OneToOne
Species where no ortholog for LKAAEAR1 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for LKAAEAR1 Gene

ENSEMBL:
Gene Tree for LKAAEAR1 (if available)
TreeFam:
Gene Tree for LKAAEAR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LKAAEAR1: view image

Paralogs for LKAAEAR1 Gene

No data available for Paralogs for LKAAEAR1 Gene

Variants for LKAAEAR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LKAAEAR1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs4431000 - p.Gly9Trp
rs77021907 - p.Glu85Asp

Additional dbSNP identifiers (rs#s) for LKAAEAR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for LKAAEAR1 Gene

Variant ID Type Subtype PubMed ID
dgv4345n100 CNV gain 25217958
dgv7701n54 CNV loss 21841781
esv2758807 CNV gain+loss 17122850
nsv428381 CNV gain+loss 18775914
nsv470564 CNV gain 18288195
nsv509785 CNV insertion 20534489
nsv586703 CNV loss 21841781
nsv586732 CNV loss 21841781
nsv953310 CNV deletion 24416366

Variation tolerance for LKAAEAR1 Gene

Gene Damage Index Score: 8.98; 87.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LKAAEAR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LKAAEAR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LKAAEAR1 Gene

Disorders for LKAAEAR1 Gene

Additional Disease Information for LKAAEAR1

No disorders were found for LKAAEAR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LKAAEAR1 Gene

Publications for LKAAEAR1 Gene

  1. Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP. (PMID: 26721930) Escoffier J … Arnoult C (Human molecular genetics 2016) 4 54
  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) 4 54
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 54
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 4 54

Products for LKAAEAR1 Gene

Sources for LKAAEAR1 Gene