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

Gene ID: 100287482, updated on 8-Mar-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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Location:
7q32.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (129502531..129512918)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130815596..130825982)
105.20220307 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: 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. 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)

Genotypes

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_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
    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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