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    RGSL1 regulator of G protein signaling like 1 [ Homo sapiens (human) ]

    Gene ID: 353299, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RGSL1provided by HGNC
    Official Full Name
    regulator of G protein signaling like 1provided by HGNC
    Primary source
    HGNC:HGNC:18636
    See related
    Ensembl:ENSG00000121446 MIM:611012; AllianceGenome:HGNC:18636
    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
    Also known as
    RGSL; RGSL2
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 3.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See RGSL1 in Genome Data Viewer
    Location:
    1q25.3
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (182447877..182560597)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (181807450..181920071)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (182419281..182529732)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1619 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:182408935-182409515 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:182419119-182419726 Neighboring gene transmembrane epididymal protein 2, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:182443692-182444891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2198 Neighboring gene ribonuclease L Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2201 Neighboring gene regulator of G protein signaling 16

    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. Chick RGS2L demonstrates concentration-dependent selectivity for pertussis toxin-sensitive and -insensitive pathways that inhibit L-type Ca2+ channels. Tosetti P, et al. J Physiol, 2003 May 15. PMID 12651916, Free PMC Article
    2. A fragile site within the HPC1 region at 1q25.3 affecting RGS16, RGSL1, and RGSL2 in human breast carcinomas. Wiechec E, et al. Genes Chromosomes Cancer, 2008 Sep. PMID 18521847
    3. Chromosome 1q25.3 copy number alterations in primary breast cancers detected by multiplex ligation-dependent probe amplification and allelic imbalance assays and its comparison with fluorescent in situ hybridization assays. Wiechec E, et al. Cell Oncol (Dordr), 2013 Apr. PMID 23248035
    4. High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer. Wiechec E, et al. Cancer Epidemiol Biomarkers Prev, 2011 Feb. PMID 21135262
    5. Identification of 9 novel transcripts and two RGSL genes within the hereditary prostate cancer region (HPC1) at 1q25. Silva AP, et al. Gene, 2003 May 22. PMID 12801632

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data indicate that multiplex ligation-dependent probe amplification (MLPA) probes (Fig. 2) corresponding to the RGSL2, RGSL1 and RGS16 genes showed 64.5 % tumour samples with copy number gains and 5 % tumour samples with copy number losses.
      Title: Chromosome 1q25.3 copy number alterations in primary breast cancers detected by multiplex ligation-dependent probe amplification and allelic imbalance assays and its comparison with fluorescent in situ hybridization assays.
    2. Missense mutations in RGSL1 gene is associated with breast cancer.
      Title: High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Intermediate phenotypes identify divergent pathways to Alzheimer's disease.
    4. A detailed mapping of the breakpoints revealed intragenic microdeletions affecting the coding regions of RGSL2, RGSL1.
      Title: A fragile site within the HPC1 region at 1q25.3 affecting RGS16, RGSL1, and RGSL2 in human breast carcinomas.
    Submit: New GeneRIF Correction

    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

    Clone Names

    • DKFZp434E169

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    regulator of G-protein signaling protein-like
    Names
    regulator of G-protein signaling like 2

    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_001137669.2 → NP_001131141.1  regulator of G-protein signaling protein-like isoform 1

      See identical proteins and their annotated locations for NP_001131141.1

      Status: VALIDATED

      Source sequence(s)
      AF508902, BC142944
      Consensus CDS
      CCDS58049.1
      UniProtKB/Swiss-Prot
      A2A2Z0, A5PLK6, A6PVM2, A6PVM3, Q0VAJ4, Q0VAJ5, Q6ZRL0, Q86UV0, Q9H084
      UniProtKB/TrEMBL
      B7Z814
      Related
      ENSP00000457748.1, ENST00000294854.13
      Conserved Domains (2) summary
      cd08728
      Location:650 → 829
      RGS-like_2; Uncharacterized Regulator of G protein Signaling (RGS) domain subfamily, child 2
      cl02565
      Location:876 → 980
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    2. NM_001366934.1 → NP_001353863.1  regulator of G-protein signaling protein-like isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL138776, AL139344
      UniProtKB/TrEMBL
      B7Z814

    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
      182447877..182560597
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001193.3 → XP_016856682.1  regulator of G-protein signaling protein-like isoform X2

      UniProtKB/TrEMBL
      B7Z814

    2. XM_017001191.1 → XP_016856680.1  regulator of G-protein signaling protein-like isoform X2

      UniProtKB/TrEMBL
      B7Z814

    3. XM_017001192.3 → XP_016856681.1  regulator of G-protein signaling protein-like isoform X2

      UniProtKB/TrEMBL
      B7Z814

    4. XM_017001189.2 → XP_016856678.1  regulator of G-protein signaling protein-like isoform X2

      UniProtKB/TrEMBL
      B7Z814

    5. XM_017001188.2 → XP_016856677.1  regulator of G-protein signaling protein-like isoform X1

      UniProtKB/TrEMBL
      B7Z814
      Conserved Domains (2) summary
      cd08728
      Location:685 → 864
      RGS-like_2; Uncharacterized Regulator of G protein Signaling (RGS) domain subfamily, child 2
      cl02565
      Location:911 → 1015
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    6. XM_047419638.1 → XP_047275594.1  regulator of G-protein signaling protein-like isoform X5

      UniProtKB/TrEMBL
      H3BU64
      Related
      ENSP00000457491.1, ENST00000443996.6

    7. XM_011509494.3 → XP_011507796.1  regulator of G-protein signaling protein-like isoform X3

      See identical proteins and their annotated locations for XP_011507796.1

      UniProtKB/TrEMBL
      B7Z814
      Conserved Domains (2) summary
      cd08728
      Location:685 → 864
      RGS-like_2; Uncharacterized Regulator of G protein Signaling (RGS) domain subfamily, child 2
      cl02565
      Location:911 → 1011
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    8. XM_011509500.2 → XP_011507802.1  regulator of G-protein signaling protein-like isoform X6

      Conserved Domains (1) summary
      cl02565
      Location:685 → 782
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    9. XM_017001190.2 → XP_016856679.1  regulator of G-protein signaling protein-like isoform X2

      UniProtKB/TrEMBL
      B7Z814

    10. XM_047419632.1 → XP_047275588.1  regulator of G-protein signaling protein-like isoform X4

    11. XM_017001196.1 → XP_016856685.1  regulator of G-protein signaling protein-like isoform X7

      UniProtKB/Swiss-Prot
      A5PLK6
      Conserved Domains (2) summary
      cd08728
      Location:173 → 352
      RGS-like_2; Uncharacterized Regulator of G protein Signaling (RGS) domain subfamily, child 2
      cl02565
      Location:399 → 503
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    12. XM_047419640.1 → XP_047275596.1  regulator of G-protein signaling protein-like isoform X7

    13. XM_047419642.1 → XP_047275598.1  regulator of G-protein signaling protein-like isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      181807450..181920071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336378.1 → XP_054192353.1  regulator of G-protein signaling protein-like isoform X2

    2. XM_054336376.1 → XP_054192351.1  regulator of G-protein signaling protein-like isoform X2

    3. XM_054336377.1 → XP_054192352.1  regulator of G-protein signaling protein-like isoform X2

    4. XM_054336374.1 → XP_054192349.1  regulator of G-protein signaling protein-like isoform X2

    5. XM_054336373.1 → XP_054192348.1  regulator of G-protein signaling protein-like isoform X1

    6. XM_054336381.1 → XP_054192356.1  regulator of G-protein signaling protein-like isoform X5

      UniProtKB/TrEMBL
      H3BU64

    7. XM_054336379.1 → XP_054192354.1  regulator of G-protein signaling protein-like isoform X3

    8. XM_054336382.1 → XP_054192357.1  regulator of G-protein signaling protein-like isoform X6

    9. XM_054336375.1 → XP_054192350.1  regulator of G-protein signaling protein-like isoform X2

    10. XM_054336380.1 → XP_054192355.1  regulator of G-protein signaling protein-like isoform X4

    11. XM_054336384.1 → XP_054192359.1  regulator of G-protein signaling protein-like isoform X7

    12. XM_054336383.1 → XP_054192358.1  regulator of G-protein signaling protein-like isoform X7

    13. XM_054336385.1 → XP_054192360.1  regulator of G-protein signaling protein-like isoform X8

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032267.2: Suppressed sequence

      Description
      NM_032267.2: This RefSeq was permanently suppressed because it contains a partial CDS and the complete transcript would be a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_181572.2: Suppressed sequence

      Description
      NM_181572.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A5PLK6.1 GenPept UniProtKB/Swiss-Prot:A5PLK6

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