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    LAD1 ladinin 1 [ Homo sapiens (human) ]

    Gene ID: 3898, updated on 9-Dec-2024

    Summary

    Official Symbol
    LAD1provided by HGNC
    Official Full Name
    ladinin 1provided by HGNC
    Primary source
    HGNC:HGNC:6472
    See related
    Ensembl:ENSG00000159166 MIM:602314; AllianceGenome:HGNC:6472
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LadA
    Summary
    The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in esophagus (RPKM 94.2), skin (RPKM 74.3) and 10 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See LAD1 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (201380833..201399324, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (200638642..200657124, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201349961..201368452, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929326 Neighboring gene troponin T2, cardiac type Neighboring gene skeletal muscle cis-regulatory module in TNNT2 intron Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201346239-201346776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201346777-201347314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201348651-201349414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201358357-201358857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201368148-201368810 Neighboring gene uncharacterized LOC101929343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2313 Neighboring gene troponin I1, slow skeletal type Neighboring gene peptidyl-prolyl cis-trans isomerase NIMA-interacting 4-like

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    ladinin-1
    Names
    lad-1
    linear IgA bullous dermatosis antigen
    linear IgA disease antigen homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_005558.4NP_005549.2  ladinin-1

      See identical proteins and their annotated locations for NP_005549.2

      Status: REVIEWED

      Source sequence(s)
      AC119427
      Consensus CDS
      CCDS1410.1
      UniProtKB/Swiss-Prot
      O00515, O95614, Q96GD8
      UniProtKB/TrEMBL
      Q6IPJ9
      Related
      ENSP00000375829.2, ENST00000391967.7

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      201380833..201399324 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      200638642..200657124 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)