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    LRRD1 leucine rich repeats and death domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 401387, updated on 17-Jun-2024

    Summary

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    Official Symbol
    LRRD1provided by HGNC
    Official Full Name
    leucine rich repeats and death domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:34300
    See related
    Ensembl:ENSG00000240720 AllianceGenome:HGNC:34300
    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
    Summary
    Predicted to be involved in positive regulation of Ras protein signal transduction and signal transduction. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 7.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRD1 in Genome Data Viewer
    Location:
    7q21.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92141643..92179142, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93382921..93420430, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (91770957..91808456, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26256 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:91569717-91570278 Neighboring gene A-kinase anchoring protein 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18366 Neighboring gene Sharpr-MPRA regulatory region 2641 Neighboring gene H3K27ac hESC enhancers GRCh37_chr7:91763126-91763952 and GRCh37_chr7:91763953-91764779 Neighboring gene MPRA-validated peak6634 silencer Neighboring gene MPRA-validated peak6635 silencer Neighboring gene MPRA-validated peak6636 silencer Neighboring gene CYP51A1 antisense RNA 1 Neighboring gene cytochrome P450 family 51 subfamily A member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18368 Neighboring gene microRNA 1285-1 Neighboring gene KRIT1 ankyrin repeat containing Neighboring gene Sharpr-MPRA regulatory region 5961 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:91888982-91890181 Neighboring gene ankyrin repeat and IBR domain containing 1

    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. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    2. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. 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
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34004, MGC178225, MGC178229

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat and death domain-containing protein 1
    Names
    leucine-rich repeat and death domain-containing protein LOC401387

    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_001161528.2 → NP_001155000.1  leucine-rich repeat and death domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001155000.1

      Status: VALIDATED

      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS55124.1
      UniProtKB/Swiss-Prot
      A4D1F6, B7ZMM9, Q49AT9
      Related
      ENSP00000405987.1, ENST00000458448.6
      Conserved Domains (3) summary
      PLN03150
      Location:146 → 224
      PLN03150; hypothetical protein; Provisional
      PLN00113
      Location:190 → 732
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00033
      Location:489 → 511
      LRR_RI; leucine-rich repeat [structural motif]

    2. NM_001384932.1 → NP_001371861.1  leucine-rich repeat and death domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS94143.1
      Conserved Domains (2) summary
      PLN00113
      Location:11 → 83
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00031
      Location:4 → 26
      LRR_1; leucine-rich repeat [structural motif]

    3. NM_001384933.1 → NP_001371862.1  leucine-rich repeat and death domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS94143.1
      Related
      ENSP00000339642.5, ENST00000343318.9
      Conserved Domains (2) summary
      PLN00113
      Location:11 → 83
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00031
      Location:4 → 26
      LRR_1; leucine-rich repeat [structural motif]

    4. NM_001384934.1 → NP_001371863.1  leucine-rich repeat and death domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC000120
      Consensus CDS
      CCDS94143.1
      Conserved Domains (2) summary
      PLN00113
      Location:11 → 83
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00031
      Location:4 → 26
      LRR_1; leucine-rich repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      92141643..92179142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      93382921..93420430 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001045475.2: Suppressed sequence

      Description
      NM_001045475.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A4D1F6.2 GenPept UniProtKB/Swiss-Prot:A4D1F6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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