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    PLEKHS1 pleckstrin homology domain containing S1 [ Homo sapiens (human) ]

    Gene ID: 79949, updated on 19-Sep-2024

    Summary

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    Official Symbol
    PLEKHS1provided by HGNC
    Official Full Name
    pleckstrin homology domain containing S1provided by HGNC
    Primary source
    HGNC:HGNC:26285
    See related
    Ensembl:ENSG00000148735 AllianceGenome:HGNC:26285
    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
    HEL185; C10orf81
    Expression
    Biased expression in duodenum (RPKM 10.1), small intestine (RPKM 9.0) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLEKHS1 in Genome Data Viewer
    Location:
    10q25.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (113751682..113783429)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (114643537..114675061)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (115511441..115543188)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene hyaluronan binding protein 2 Neighboring gene Sharpr-MPRA regulatory region 959 Neighboring gene OCT4 hESC enhancer GRCh37_chr10:115376450-115376951 Neighboring gene nebulin related anchoring protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4071 Neighboring gene caspase 7 Neighboring gene uncharacterized LOC124902505 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:115479382-115479555 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:115480728-115481927 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:115532373-115533572 Neighboring gene microRNA 4483 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:115580091-115580590 Neighboring gene small nucleolar RNA SNORA17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4072 Neighboring gene DNA cross-link repair 1A

    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 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. Risk Stratification Using a Novel Genetic Classifier Including PLEKHS1 Promoter Mutations for Differentiated Thyroid Cancer with Distant Metastasis. Jung CK, et al. Thyroid, 2020 Nov. PMID 32326836
    2. PLEKHS1: A new molecular marker predicting risk of progression of non-muscle-invasive bladder cancer. Pignot G, et al. Oncol Lett, 2019 Oct. PMID 31516565, Free PMC Article
    3. Plekhs1 and Prdx3 are candidate genes responsible for mild hyperglycemia associated with obesity in a new animal model of F344-fa-nidd6 rat. Kotoh J, et al. J Vet Med Sci, 2016 Dec 1. PMID 27523322, Free PMC Article
    4. Phospho-tyrosine dependent protein-protein interaction network. Grossmann A, et al. Mol Syst Biol, 2015 Mar 26. PMID 25814554, Free PMC Article
    5. EZH2 interacts with HP1BP3 to epigenetically activate WNT7B that promotes temozolomide resistance in glioblastoma. Yu T, et al. Oncogene, 2023 Feb. PMID 36517590

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Risk Stratification Using a Novel Genetic Classifier Including PLEKHS1 Promoter Mutations for Differentiated Thyroid Cancer with Distant Metastasis.
      Title: Risk Stratification Using a Novel Genetic Classifier Including PLEKHS1 Promoter Mutations for Differentiated Thyroid Cancer with Distant Metastasis.
    2. this gene is involved in the mild elevation of blood glucose levels and insulin resistance in obesity.
      Title: Plekhs1 and Prdx3 are candidate genes responsible for mild hyperglycemia associated with obesity in a new animal model of F344-fa-nidd6 rat.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ23537

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family S member 1
    Names
    PH domain-containing family S member 1
    PH domain-containing protein C10orf81
    epididymis luminal protein 185
    epididymis secretory sperm binding protein

    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_001193434.2 → NP_001180363.1  pleckstrin homology domain-containing family S member 1 isoform 2

      See identical proteins and their annotated locations for NP_001180363.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses alternate exons at the 5' and 3' ends compared to variant 1, resulting in translation initiation from an in-frame downstream AUG, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AK128811, AK292867, AL592546, BC036365, DB002630
      Consensus CDS
      CCDS53581.1
      UniProtKB/Swiss-Prot
      Q5SXH7
      Related
      ENSP00000358318.4, ENST00000369312.9

    2. NM_001193435.2 → NP_001180364.1  pleckstrin homology domain-containing family S member 1 isoform 2

      See identical proteins and their annotated locations for NP_001180364.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses alternate exons at the 5' and 3' ends, and is missing 2 internal exons compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AK128811, AK292867, AL592546, BC036365, DB002630
      Consensus CDS
      CCDS53581.1
      UniProtKB/Swiss-Prot
      Q5SXH7
      Related
      ENSP00000483759.1, ENST00000619563.5

    3. NM_001395068.1 → NP_001381997.1  pleckstrin homology domain-containing family S member 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL592546
      Consensus CDS
      CCDS91351.1
      UniProtKB/Swiss-Prot
      A8KA02, B3KX00, B6EDE1, Q5SXH7, Q5SXH8, Q5SXI0, Q6ZQR5, Q8NE42, Q9H5D9
      UniProtKB/TrEMBL
      A0A8Q3WKA6
      Related
      ENSP00000511629.1, ENST00000694986.1
      Conserved Domains (1) summary
      cl17171
      Location:20 → 127
      PH-like; Pleckstrin homology-like domain

    4. NM_024889.5 → NP_079165.3  pleckstrin homology domain-containing family S member 1 isoform 3

      See identical proteins and their annotated locations for NP_079165.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses alternate exons at the 5' and 3' ends, is missing an internal exon, and uses an alternate donor splice site at another internal coding exon compared to variant 1. This results in translation initiation from an upstream AUG and a shorter isoform (3) with a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK128811, AK292867, AL592546, BC036365
      Consensus CDS
      CCDS7583.1
      UniProtKB/Swiss-Prot
      Q5SXH7
      Related
      ENSP00000354332.1, ENST00000361048.6
      Conserved Domains (2) summary
      pfam00169
      Location:40 → 132
      PH; PH domain
      cl17171
      Location:20 → 127
      PH-like; Pleckstrin homology-like domain

    5. NM_182601.2 → NP_872407.1  pleckstrin homology domain-containing family S member 1 isoform 1

      See identical proteins and their annotated locations for NP_872407.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK128811, BC037870, BM979821
      Consensus CDS
      CCDS53580.1
      UniProtKB/Swiss-Prot
      A8KA02, B3KX00, B6EDE1, Q5SXH7, Q5SXH8, Q5SXI0, Q6ZQR5, Q8NE42, Q9H5D9
      UniProtKB/TrEMBL
      A0A384P5Z2
      Related
      ENSP00000358316.3, ENST00000369310.7
      Conserved Domains (1) summary
      cl17171
      Location:14 → 121
      PH-like; Pleckstrin homology-like domain

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      113751682..113783429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270163.3 → XP_005270220.1  pleckstrin homology domain-containing family S member 1 isoform X3

      UniProtKB/Swiss-Prot
      A8KA02, B3KX00, B6EDE1, Q5SXH7, Q5SXH8, Q5SXI0, Q6ZQR5, Q8NE42, Q9H5D9
      Conserved Domains (2) summary
      pfam00169
      Location:40 → 132
      PH; PH domain
      cl17171
      Location:20 → 127
      PH-like; Pleckstrin homology-like domain

    2. XM_011540175.2 → XP_011538477.1  pleckstrin homology domain-containing family S member 1 isoform X5

      See identical proteins and their annotated locations for XP_011538477.1

      UniProtKB/Swiss-Prot
      A8KA02, B3KX00, B6EDE1, Q5SXH7, Q5SXH8, Q5SXI0, Q6ZQR5, Q8NE42, Q9H5D9

    3. XM_011540176.2 → XP_011538478.1  pleckstrin homology domain-containing family S member 1 isoform X5

      See identical proteins and their annotated locations for XP_011538478.1

      UniProtKB/Swiss-Prot
      A8KA02, B3KX00, B6EDE1, Q5SXH7, Q5SXH8, Q5SXI0, Q6ZQR5, Q8NE42, Q9H5D9

    4. XM_011540171.2 → XP_011538473.1  pleckstrin homology domain-containing family S member 1 isoform X1

      See identical proteins and their annotated locations for XP_011538473.1

      UniProtKB/Swiss-Prot
      A8KA02, B3KX00, B6EDE1, Q5SXH7, Q5SXH8, Q5SXI0, Q6ZQR5, Q8NE42, Q9H5D9
      Conserved Domains (2) summary
      pfam00169
      Location:40 → 132
      PH; PH domain
      cl17171
      Location:20 → 127
      PH-like; Pleckstrin homology-like domain

    5. XM_011540173.2 → XP_011538475.1  pleckstrin homology domain-containing family S member 1 isoform X2

      UniProtKB/Swiss-Prot
      A8KA02, B3KX00, B6EDE1, Q5SXH7, Q5SXH8, Q5SXI0, Q6ZQR5, Q8NE42, Q9H5D9
      Conserved Domains (1) summary
      cl17171
      Location:20 → 127
      PH-like; Pleckstrin homology-like domain

    6. XM_011540174.3 → XP_011538476.1  pleckstrin homology domain-containing family S member 1 isoform X4

      UniProtKB/Swiss-Prot
      A8KA02, B3KX00, B6EDE1, Q5SXH7, Q5SXH8, Q5SXI0, Q6ZQR5, Q8NE42, Q9H5D9
      Conserved Domains (2) summary
      pfam00169
      Location:40 → 132
      PH; PH domain
      cl17171
      Location:20 → 127
      PH-like; Pleckstrin homology-like domain

    7. XM_017016666.2 → XP_016872155.1  pleckstrin homology domain-containing family S member 1 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      114643537..114675061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SXH7.4 GenPept UniProtKB/Swiss-Prot:Q5SXH7

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