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PDZD4 PDZ domain containing 4 [ Homo sapiens (human) ]

Gene ID: 57595, updated on 25-Jan-2024

Summary

Official Symbol
PDZD4provided by HGNC
Official Full Name
PDZ domain containing 4provided by HGNC
Primary source
HGNC:HGNC:21167
See related
Ensembl:ENSG00000067840 MIM:300634; AllianceGenome:HGNC:21167
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LU1; LNX5; PDZK4; PDZRN4L
Summary
Predicted to be located in cell cortex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 47.1), spleen (RPKM 4.7) and 4 other tissues See more
Orthologs
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Genomic context

See PDZD4 in Genome Data Viewer
Location:
Xq28
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153802166..153830544, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152075829..152104208, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153067621..153095999, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905227 Neighboring gene SRSF protein kinase 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153059193-153059920 Neighboring gene isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma Neighboring gene CRISPRi-validated cis-regulatory element chrX.2654 Neighboring gene signal sequence receptor subunit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21072 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:153092379-153092957 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:153099642-153099888 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:153110079-153110947 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:153110948-153111815 Neighboring gene CYCS pseudogene 45 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153128028-153128886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153128887-153129745 Neighboring gene L1 cell adhesion molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30041 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153147023-153148020 Neighboring gene L1CAM antisense RNA 1

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
PDZ domain-containing protein 4
Names
PDZ domain-containing RING finger protein 4-like 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_001303512.2NP_001290441.1  PDZ domain-containing protein 4 isoform 1

    See identical proteins and their annotated locations for NP_001290441.1

    Status: REVIEWED

    Source sequence(s)
    U52111
    Consensus CDS
    CCDS78518.1
    UniProtKB/TrEMBL
    B3KW03, Q17RL8
    Related
    ENSP00000377355.3, ENST00000393758.7
    Conserved Domains (1) summary
    smart00228
    Location:144220
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
  2. NM_001303513.3NP_001290442.1  PDZ domain-containing protein 4 isoform 3

    See identical proteins and their annotated locations for NP_001290442.1

    Status: REVIEWED

    Source sequence(s)
    U52111
    UniProtKB/TrEMBL
    B3KVR9, B3KW03
    Conserved Domains (1) summary
    smart00228
    Location:42118
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
  3. NM_001303514.2NP_001290443.1  PDZ domain-containing protein 4 isoform 4

    See identical proteins and their annotated locations for NP_001290443.1

    Status: REVIEWED

    Source sequence(s)
    U52111
    Consensus CDS
    CCDS78517.1
    UniProtKB/TrEMBL
    B3KW03
    Related
    ENSP00000442033.1, ENST00000544474.5
    Conserved Domains (1) summary
    cd00992
    Location:19103
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  4. NM_001303515.2NP_001290444.1  PDZ domain-containing protein 4 isoform 5

    See identical proteins and their annotated locations for NP_001290444.1

    Status: REVIEWED

    Source sequence(s)
    U52111
    UniProtKB/TrEMBL
    B3KW03
    Conserved Domains (1) summary
    smart00228
    Location:63139
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
  5. NM_001303516.2NP_001290445.1  PDZ domain-containing protein 4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    U52111
    UniProtKB/TrEMBL
    B3KW03
    Conserved Domains (1) summary
    smart00228
    Location:57133
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
  6. NM_032512.5NP_115901.2  PDZ domain-containing protein 4 isoform 2

    See identical proteins and their annotated locations for NP_115901.2

    Status: REVIEWED

    Source sequence(s)
    U52111
    Consensus CDS
    CCDS14732.1
    UniProtKB/Swiss-Prot
    B3KXB1, B7ZKY3, Q76G19, Q8NB75, Q9BUH9, Q9P284
    UniProtKB/TrEMBL
    B3KW03
    Related
    ENSP00000164640.4, ENST00000164640.8
    Conserved Domains (1) summary
    smart00228
    Location:138214
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    153802166..153830544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    152075829..152104208 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)