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

Gene ID: 55111, updated on 5-Aug-2022

Summary

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

See PLEKHJ1 in Genome Data Viewer
Location:
19p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (2229981..2236329, complement)
110 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 CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:2168563-2169762 Neighboring gene DOT1 like histone lysine methyltransferase Neighboring gene uncharacterized LOC124904611 Neighboring gene microRNA 1227 Neighboring gene microRNA 6789 Neighboring gene Sharpr-MPRA regulatory region 2271 Neighboring gene splicing factor 3a subunit 2 Neighboring gene AMH 5' regulatory region Neighboring gene anti-Mullerian hormone

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
involved_in receptor recycling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
is_active_in recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001300836.3NP_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:1112
    PH_PLEKHJ1; Pleckstrin homology domain containing, family J member 1 Pleckstrin homology (PH) domain
    pfam00169
    Location:25108
    PH; PH domain
  2. NM_018049.3NP_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
    D6W604, Q9NW61
    Related
    ENSP00000318075.2, ENST00000326631.7
    Conserved Domains (1) summary
    cd13258
    Location:1112
    PH_PLEKHJ1; Pleckstrin homology domain containing, family J member 1 Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017026928.2XP_016882417.1  pleckstrin homology domain-containing family J member 1 isoform X1

    Conserved Domains (2) summary
    pfam00169
    Location:2789
    PH; PH domain
    cl17171
    Location:193
    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)