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PLEKHJ1 pleckstrin homology domain containing J1 [ Homo sapiens (human) ]

Gene ID: 55111, updated on 5-Mar-2024

Summary

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Official Symbol
PLEKHJ1provided by HGNC
Official Full Name
pleckstrin homology domain containing J1provided by HGNC
Primary source
HGNC:HGNC:18211
See related
Ensembl:ENSG00000104886 MIM:617834; AllianceGenome:HGNC:18211
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
GNRPX
Summary
Predicted to be involved in endosome organization; receptor recycling; and retrograde transport, endosome to Golgi. Predicted to be located in cytosol. Predicted to be active in early endosome; recycling endosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in duodenum (RPKM 22.0), small intestine (RPKM 18.6) and 25 other tissues See more
Orthologs
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Genomic context

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See PLEKHJ1 in Genome Data Viewer
Location:
19p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (2229981..2236329, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (2203545..2209893, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2229980..2236328, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2104508-2104680 Neighboring gene adaptor related protein complex 3 subunit delta 1 Neighboring gene MPRA-validated peak3230 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2141381-2141538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2144918-2145541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2145542-2146164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13657 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2150717-2150878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13658 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2151574-2152011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9771 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2165242-2165623 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:2168563-2169762 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2171045-2171639 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2171640-2172234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2173473-2173991 Neighboring gene DOT1 like histone lysine methyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2180689-2181272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2195534-2196062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2196063-2196591 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:2200246-2201219 Neighboring gene uncharacterized LOC124904611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9773 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2225862-2226368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2234553-2235132 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:2235135-2235743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9774 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:2236352-2236960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9775 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2239731-2240468 Neighboring gene Sharpr-MPRA regulatory region 2271 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2242682-2242879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2243337-2243914 Neighboring gene microRNA 1227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2245579-2246079 Neighboring gene microRNA 6789 Neighboring gene AMH 5' regulatory region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9776 Neighboring gene splicing factor 3a subunit 2 Neighboring gene microRNA 4321 Neighboring gene anti-Mullerian hormone

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. An expressed GNRP-like gene shares a bi-directional promoter with SF3A2 (SAP62) immediately upstream of AMH. Dresser DW, et al. Gene, 2001 Oct 17. PMID 11602354
  2. Expanding the substantial interactome of NEMO using protein microarrays. Fenner BJ, et al. PLoS One, 2010 Jan 20. PMID 20098747, Free PMC Article
  3. BioID reveals an ATG9A interaction with ATG13-ATG101 in the degradation of p62/SQSTM1-ubiquitin clusters. Kannangara AR, et al. EMBO Rep, 2021 Oct 5. PMID 34369648, Free PMC Article
  4. High-throughput mapping of a dynamic signaling network in mammalian cells. Barrios-Rodiles M, et al. Science, 2005 Mar 11. PMID 15761153
  5. A Degradation Motif in STAU1 Defines a Novel Family of Proteins Involved in Inflammation. Gonzalez Quesada Y, et al. Int J Mol Sci, 2022 Sep 30. PMID 36232890, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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)

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

  • FLJ10297, 9530063M10Rik

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in receptor recycling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
pleckstrin homology domain-containing family J member 1
Names
PH domain-containing family J member 1
guanine nucleotide releasing protein x

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_001300836.3 → NP_001287765.1  pleckstrin homology domain-containing family J member 1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    CN365243, CN417790, HY085955
    Consensus CDS
    CCDS74251.1
    UniProtKB/TrEMBL
    K7EIZ3
    Related
    ENSP00000464955.1, ENST00000587394.6
    Conserved Domains (2) summary
    cd13258
    Location:1 → 112
    PH_PLEKHJ1; Pleckstrin homology domain containing, family J member 1 Pleckstrin homology (PH) domain
    pfam00169
    Location:25 → 108
    PH; PH domain

  2. NM_018049.3 → NP_060519.1  pleckstrin homology domain-containing family J member 1 isoform 2

    See identical proteins and their annotated locations for NP_060519.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 3' terminal exon, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK001159, AK097723, BQ013786
    Consensus CDS
    CCDS12083.1
    UniProtKB/Swiss-Prot
    B3KUQ9, D6W604, Q9NW61
    Related
    ENSP00000318075.2, ENST00000326631.7
    Conserved Domains (1) summary
    cd13258
    Location:1 → 112
    PH_PLEKHJ1; Pleckstrin homology domain containing, family J member 1 Pleckstrin homology (PH) 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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    2229981..2236329 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026928.2 → XP_016882417.1  pleckstrin homology domain-containing family J member 1 isoform X1

    Conserved Domains (2) summary
    pfam00169
    Location:27 → 89
    PH; PH domain
    cl17171
    Location:1 → 93
    PH-like; Pleckstrin homology-like domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    2203545..2209893 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321357.1 → XP_054177332.1  pleckstrin homology domain-containing family J member 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NW61.1 GenPept UniProtKB/Swiss-Prot:Q9NW61

Gene LinkOut

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