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    LKAAEAR1 LKAAEAR motif containing 1 [ Homo sapiens (human) ]

    Gene ID: 198437, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LKAAEAR1provided by HGNC
    Official Full Name
    LKAAEAR motif containing 1provided by HGNC
    Primary source
    HGNC:HGNC:33718
    See related
    Ensembl:ENSG00000171695 AllianceGenome:HGNC:33718
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C20orf201
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See LKAAEAR1 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (64083376..64084953, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65903431..65905008, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62714729..62716306, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62686363-62687052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62687053-62687742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62688433-62689122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62689123-62689810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13205 Neighboring gene transcription elongation factor A2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13207 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:62711846-62712019 Neighboring gene regulator of G protein signaling 19 Neighboring gene microRNA 6813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13209 Neighboring gene MPRA-validated peak4324 silencer Neighboring gene opioid related nociceptin receptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62723260-62723993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62723994-62724726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62732783-62733284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62738466-62738966 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:62740950-62741133 Neighboring gene neuropeptides B and W receptor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62751601-62752100 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:62754467-62755666 Neighboring gene B6.7 minisatellite repeat instability region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62768655-62769156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62769157-62769656 Neighboring gene uncharacterized LOC105372727 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62771493-62772406

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein LKAAEAR1
    Names
    LKAAEAR motif-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001007125.3 → NP_001007126.1  protein LKAAEAR1 isoform 1

      See identical proteins and their annotated locations for NP_001007126.1

      Status: VALIDATED

      Source sequence(s)
      AL590548
      Consensus CDS
      CCDS33509.1
      UniProtKB/Swiss-Prot
      Q8TD35
      Related
      ENSP00000310801.2, ENST00000308906.6
      Conserved Domains (1) summary
      pfam15478
      Location:40 → 175
      LKAAEAR; Family of unknown function with LKAAEAR motif

    2. NM_001353425.2 → NP_001340354.1  protein LKAAEAR1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL590548
      Consensus CDS
      CCDS86972.1
      UniProtKB/Swiss-Prot
      Q8N419, Q8TD35, Q8TD36
      Related
      ENSP00000302763.4, ENST00000302096.5
      Conserved Domains (1) summary
      pfam15478
      Location:40 → 175
      LKAAEAR; Family of unknown function with LKAAEAR motif

    3. NM_001386971.1 → NP_001373900.1  protein LKAAEAR1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL590548
      Consensus CDS
      CCDS86972.1
      UniProtKB/Swiss-Prot
      Q8N419, Q8TD35, Q8TD36
      Conserved Domains (1) summary
      pfam15478
      Location:40 → 175
      LKAAEAR; Family of unknown function with LKAAEAR motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      64083376..64084953 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451849.2 → XP_024307617.1  protein LKAAEAR1 isoform X1

      Conserved Domains (1) summary
      pfam15478
      Location:40 → 175
      LKAAEAR; Family of unknown function with LKAAEAR motif

    2. XM_047439963.1 → XP_047295919.1  protein LKAAEAR1 isoform X2

      UniProtKB/Swiss-Prot
      Q8N419, Q8TD35, Q8TD36

    3. XM_024451850.2 → XP_024307618.1  protein LKAAEAR1 isoform X1

      Conserved Domains (1) summary
      pfam15478
      Location:40 → 175
      LKAAEAR; Family of unknown function with LKAAEAR motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      65903431..65905008 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TD35.3 GenPept UniProtKB/Swiss-Prot:Q8TD35

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