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    SMKR1 small lysine rich protein 1 [ Homo sapiens (human) ]

    Gene ID: 100287482, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SMKR1provided by HGNC
    Official Full Name
    small lysine rich protein 1provided by HGNC
    Primary source
    HGNC:HGNC:43561
    See related
    Ensembl:ENSG00000240204 AllianceGenome:HGNC:43561
    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
    Expression
    Restricted expression toward testis (RPKM 44.7) See more
    Orthologs
    all
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    Genomic context

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    See SMKR1 in Genome Data Viewer
    Location:
    7q32.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (129502531..129512918)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130815596..130825982)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (129142372..129152759)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene striatin interacting protein 2 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18631 Neighboring gene RNA, U1 small nuclear 72, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129166309-129166810 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129173685-129174202 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129174203-129174720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129201761-129202261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26632 Neighboring gene nuclear respiratory factor 1 Neighboring gene Sharpr-MPRA regulatory region 6855 Neighboring gene uncharacterized LOC105375501 Neighboring gene RNA, 5S ribosomal pseudogene 244

    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. 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

    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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    Markers

    Homology

    General protein information

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    Preferred Names
    small lysine-rich 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_001195243.2 → NP_001182172.1  small lysine-rich protein 1

      See identical proteins and their annotated locations for NP_001182172.1

      Status: VALIDATED

      Source sequence(s)
      BC035417, BC050400
      Consensus CDS
      CCDS59077.1
      UniProtKB/Swiss-Prot
      H3BMG3
      Related
      ENSP00000454370.1, ENST00000462322.3

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      129502531..129512918
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446620.2 → XP_024302388.1  small lysine-rich protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      130815596..130825982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356951.1 → XP_054212926.1  small lysine-rich protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    H3BMG3.1 GenPept UniProtKB/Swiss-Prot:H3BMG3

    Gene LinkOut

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

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