U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    SMLR1 small leucine rich protein 1 [ Homo sapiens (human) ]

    Gene ID: 100507203, updated on 8-Mar-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    SMLR1provided by HGNC
    Official Full Name
    small leucine rich protein 1provided by HGNC
    Primary source
    HGNC:HGNC:44670
    See related
    Ensembl:ENSG00000256162 AllianceGenome:HGNC:44670
    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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in liver (RPKM 12.7), duodenum (RPKM 6.5) and 2 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    6q23.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (130827406..130837135)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (132022469..132032200)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (131148546..131158275)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378002 Neighboring gene uncharacterized LOC105378003 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89674 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:131117030-131117723 Neighboring gene Sharpr-MPRA regulatory region 8038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25062 Neighboring gene erythrocyte membrane protein band 4.1 like 2 Neighboring gene Sharpr-MPRA regulatory region 2744 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89712 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89717 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17541 Neighboring gene Sharpr-MPRA regulatory region 6396 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:131314249-131315096 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17543 Neighboring gene uncharacterized LOC105378004

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article
    2. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549
    3. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion.
      Title: Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ34581

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    small leucine-rich protein 1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_001195597.2 → NP_001182526.1  small leucine-rich protein 1

      See identical proteins and their annotated locations for NP_001182526.1

      Status: VALIDATED

      Source sequence(s)
      AI247685, AK091900, AL355360
      Consensus CDS
      CCDS59036.1
      UniProtKB/Swiss-Prot
      H3BR10
      Related
      ENSP00000456026.1, ENST00000541421.2

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      130827406..130837135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      132022469..132032200
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    H3BR10.1 GenPept UniProtKB/Swiss-Prot:H3BR10

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous