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Aliases for LKAAEAR1 Gene

Aliases for LKAAEAR1 Gene

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

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 LKAAEAR1 Gene

Genomics for LKAAEAR1 Gene

Regulatory Elements for LKAAEAR1 Gene

Enhancers for LKAAEAR1 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
GH20G063893 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +188.5 188453 5.4 HDGF FOXA2 PKNOX1 ARNT MLX AGO1 WRNIP1 SIN3A ARID4B DMAP1 UCKL1 MIR647 GMEB2 PRPF6 RGS19 RTEL1 OPRL1 ZBTB46 C20orf181 FNDC11
GH20G063902 1.4 Ensembl ENCODE dbSUPER 10.2 +181.6 181645 2.2 HDGF ATF1 PKNOX1 TCF12 GLIS2 ZNF592 MBD2 SMARCA4 MYNN GLIS1 FNDC11 SRMS ZBTB46 ZBTB46-AS1 ENSG00000229299 C20orf181 OPRL1 RGS19 LKAAEAR1 MIR941-1
GH20G064160 1.3 ENCODE dbSUPER 10.6 -75.6 -75572 1.2 CREB3L1 ARID4B SIN3A ZNF2 ZNF143 ZNF207 KLF13 DEK SP3 SP5 LKAAEAR1 RGS19 OPRL1 GC20P064162 GC20P064163 MYT1
GH20G063900 0.8 Ensembl dbSUPER 10.2 +184.2 184244 1.8 ZNF341 ZBTB11 CEBPB HNRNPL EZH2 RBFOX2 ZNF592 FNDC11 SRMS ZBTB46 ZBTB46-AS1 ENSG00000229299 C20orf181 OPRL1 RGS19 LKAAEAR1 MIR941-1
GH20G064162 0.7 ENCODE dbSUPER 11 -76.3 -76259 0.2 ZNF3 POLR2A ZBTB17 LKAAEAR1 RGS19 OPRL1 GC20P064163 GC20P064162 MYT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LKAAEAR1 on UCSC Golden Path with GeneCards custom track

Promoters for LKAAEAR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000140019 1344 401 ARID4B FEZF1 GLIS2 ZNF143 SP3 SP5 REST MIER2 SMARCA4 GLIS1

Genomic Location for LKAAEAR1 Gene

Chromosome:
20
Start:
64,083,376 bp from pter
End:
64,085,144 bp from pter
Size:
1,769 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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LKAAEAR1 Gene

Domains & Families for LKAAEAR1 Gene

Protein Domains for LKAAEAR1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for LKAAEAR1 Gene

Function for LKAAEAR1 Gene

Phenotypes for LKAAEAR1 Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
nucleus 2
cytosol 2
extracellular 1

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

Pathways & Interactions for LKAAEAR1 Gene

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

Transcripts for LKAAEAR1 Gene

mRNA/cDNA for LKAAEAR1 Gene

(2) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for LKAAEAR1 Gene

GeneLoc Exon Structure for
LKAAEAR1
ECgene alternative splicing isoforms for
LKAAEAR1

Expression for LKAAEAR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of LKAAEAR1 Gene:

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

Primer Products

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 34
  • 99.18 (n)
C20orf201 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LKAAEAR1 34
  • 83.92 (n)
C20orf201 35
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306208 34
  • 71.76 (n)
mouse
(Mus musculus)
Mammalia 4930526D03Rik 35 34
  • 70.26 (n)
OneToOne
Lkaaear1 16
dog
(Canis familiaris)
Mammalia C20orf201 35
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C20orf201 35
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C20orf201 35
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for LKAAEAR1 Gene

No data available for Paralogs for LKAAEAR1 Gene

Variants for LKAAEAR1 Gene

Sequence variations from dbSNP and Humsavar for LKAAEAR1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000303933 -- 64,083,516(+) CTGGG(A/G)TCCGG intron-variant, upstream-variant-2KB, reference, missense
rs1003116363 -- 64,086,883(+) GAAGG(A/G)GGAGG intron-variant, upstream-variant-2KB
rs1003157314 -- 64,086,455(+) CAGCA(A/C)CTGTG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1003460260 -- 64,085,394(+) GGGGT(C/T)TCAGG intron-variant, upstream-variant-2KB
rs1003491223 -- 64,085,100(+) CCCTC(A/T)TAGGG intron-variant, upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links 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

Relevant External Links for LKAAEAR1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Hum. Mol. Genet. 2016) 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 4 64

Products for LKAAEAR1 Gene

Sources for LKAAEAR1 Gene

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