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

Gene ID: 79949, updated on 5-Mar-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
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Genomic context

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Location:
10q25.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (113751682..113783429)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (114643537..114675061)
105.20220307 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
  • 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. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article

See all (14) 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

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_2023_10

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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