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

Gene ID: 79949, updated on 7-Jun-2020

Summary

Official Symbol
PLEKHS1provided by HGNC
Official Full Name
pleckstrin homology domain containing S1provided by HGNC
Primary source
HGNC:HGNC:26285
See related
Ensembl:ENSG00000148735
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

Genomic context

See PLEKHS1 in Genome Data Viewer
Location:
10q25.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (113751262..113783429)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (115511213..115542192)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene hyaluronan binding protein 2 Neighboring gene nebulin related anchoring protein Neighboring gene caspase 7 Neighboring gene microRNA 4483 Neighboring gene uncharacterized LOC107984271 Neighboring gene DNA cross-link repair 1A Neighboring gene NHL repeat containing 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23537

Gene Ontology Provided by GOA

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

General protein information

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)

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_001193434.2NP_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_001193435.2NP_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_024889.5NP_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:40132
    PH; PH domain
    cl17171
    Location:20127
    PH-like; Pleckstrin homology-like domain
  4. NM_182601.1NP_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
    Q5SXH7
    Related
    ENSP00000358316.3, ENST00000369310.7
    Conserved Domains (1) summary
    cl17171
    Location:14121
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    113751262..113783429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540172.1XP_011538474.1  pleckstrin homology domain-containing family S member 1 isoform X1

    See identical proteins and their annotated locations for XP_011538474.1

    Conserved Domains (2) summary
    pfam00169
    Location:40132
    PH; PH domain
    cl17171
    Location:20127
    PH-like; Pleckstrin homology-like domain
  2. XM_005270162.2XP_005270219.1  pleckstrin homology domain-containing family S member 1 isoform X3

    Conserved Domains (2) summary
    pfam00169
    Location:40132
    PH; PH domain
    cl17171
    Location:20127
    PH-like; Pleckstrin homology-like domain
  3. XM_005270163.2XP_005270220.1  pleckstrin homology domain-containing family S member 1 isoform X4

    Conserved Domains (2) summary
    pfam00169
    Location:40132
    PH; PH domain
    cl17171
    Location:20127
    PH-like; Pleckstrin homology-like domain
  4. XM_011540171.1XP_011538473.1  pleckstrin homology domain-containing family S member 1 isoform X1

    See identical proteins and their annotated locations for XP_011538473.1

    Conserved Domains (2) summary
    pfam00169
    Location:40132
    PH; PH domain
    cl17171
    Location:20127
    PH-like; Pleckstrin homology-like domain
  5. XM_011540173.1XP_011538475.1  pleckstrin homology domain-containing family S member 1 isoform X2

    Conserved Domains (2) summary
    pfam00169
    Location:40132
    PH; PH domain
    cl17171
    Location:20127
    PH-like; Pleckstrin homology-like domain
  6. XM_011540174.2XP_011538476.1  pleckstrin homology domain-containing family S member 1 isoform X5

    Conserved Domains (2) summary
    pfam00169
    Location:40132
    PH; PH domain
    cl17171
    Location:20127
    PH-like; Pleckstrin homology-like domain
  7. XM_017016666.1XP_016872155.1  pleckstrin homology domain-containing family S member 1 isoform X7

  8. XM_011540175.1XP_011538477.1  pleckstrin homology domain-containing family S member 1 isoform X6

    See identical proteins and their annotated locations for XP_011538477.1

  9. XM_011540176.1XP_011538478.1  pleckstrin homology domain-containing family S member 1 isoform X6

    See identical proteins and their annotated locations for XP_011538478.1

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