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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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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