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    SKINT1L Skint1 like (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 391037, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SKINT1Lprovided by HGNC
    Official Full Name
    Skint1 like (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:33993
    See related
    MIM:616392; AllianceGenome:HGNC:33993
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BTN12; SKINT1; SKINTL; SKINTP
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See SKINT1L in Genome Data Viewer
    Location:
    1p33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (48101715..48182428, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (47980564..48061271, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (48567387..48648100, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48240987-48241521 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48251591-48252091 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:48259887-48260120 Neighboring gene TraB domain containing 2B Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48347328-48347854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48347855-48348380 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:48360287-48361284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48362752-48363252 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:48363755-48364280 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8235 Neighboring gene Sharpr-MPRA regulatory region 2886 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48399564-48400079 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1009 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:48471086-48471636 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:48490345-48491176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48498970-48499470 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:48526713-48527257 Neighboring gene long intergenic non-protein coding RNA 2794 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:48558178-48559377 Neighboring gene cytochrome P450 family 46 subfamily A member 4, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:48674527-48675206 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:48679855-48680592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48697245-48697746 Neighboring gene solute carrier family 5 member 9 Neighboring gene spermatogenesis associated 6 Neighboring gene protein phosphatase 1 regulatory subunit 8 pseudogene 1

    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. The SKINT1-like gene is inactivated in hominoids but not in all primate species: implications for the origin of dendritic epidermal T cells. Mohamed RH, et al. PLoS One, 2015. PMID 25830554, Free PMC Article
    2. Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells. Boyden LM, et al. Nat Genet, 2008 May. PMID 18408721, Free PMC Article
    3. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Other Names

    • Skint-like, pseudogene

    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.

    RNA

    1. NR_026749.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL109659, AL356289, BX118767, DN994130

    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
      48101715..48182428 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      47980564..48061271 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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