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PDZD8 PDZ domain containing 8 [ Homo sapiens (human) ]

Gene ID: 118987, updated on 8-Jul-2018
Official Symbol
PDZD8provided by HGNC
Official Full Name
PDZ domain containing 8provided by HGNC
Primary source
HGNC:HGNC:26974
See related
Ensembl:ENSG00000165650 MIM:614235; Vega:OTTHUMG00000019122
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
PDZK8
Expression
Broad expression in bone marrow (RPKM 51.5), testis (RPKM 17.7) and 24 other tissues See more
Orthologs
See PDZD8 in Genome Data Viewer
Location:
10q25.3-q26.11
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (117280489..117375492, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (119029936..119134951, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene potassium two pore domain channel subfamily K member 18 Neighboring gene uncharacterized LOC105378500 Neighboring gene solute carrier family 18 member A2 Neighboring gene uncharacterized LOC105378502 Neighboring gene EMX2 opposite strand/antisense RNA Neighboring gene empty spiracles homeobox 2

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag PDZD8 binds to HIV-1 Gag and promotes HIV-1 infection. The C-terminal coiled-coil domain (amino acids 1028-1155) of PDZD8 interacts with Gag and is required for enhancement of HIV-1 infection PubMed
capsid gag The putative coiled-coil motif (residues 1017-1063) of PDZD8 is both necessary and sufficient for HIV-1 CA-NC binding and the PDZ domain (residues 366-450) contributes to the function of PDZD8 as an HIV-1 cofactor for infectivity PubMed
gag Human PDZD8 is an important contributor to the in vitro stabilization of HIV-1 CA-NC complexes by cell lysates PubMed
matrix gag The putative coiled-coil motif (residues 1017-1063) of PDZD8 is both necessary and sufficient for HIV-1 CA-NC binding and the PDZ domain (residues 366-450) contributes to the function of PDZD8 as an HIV-1 cofactor for infectivity PubMed
gag Human PDZD8 is an important contributor to the in vitro stabilization of HIV-1 CA-NC complexes by cell lysates PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ25412, FLJ34427

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
lipid transport IEA
Inferred from Electronic Annotation
more info
 
mitochondrial calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion-endoplasmic reticulum membrane tethering IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ER-mitochondrion membrane contact site IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
PDZ domain-containing protein 8
Names
sarcoma antigen NY-SAR-84/NY-SAR-104

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_173791.4NP_776152.1  PDZ domain-containing protein 8

    See identical proteins and their annotated locations for NP_776152.1

    Status: VALIDATED

    Source sequence(s)
    AL391988, BC012186, BC028375, BC033019
    Consensus CDS
    CCDS7600.1
    UniProtKB/Swiss-Prot
    Q8NEN9
    Related
    ENSP00000334642.5, OTTHUMP00000020577, ENST00000334464.6, OTTHUMT00000050565
    Conserved Domains (3) summary
    cd00029
    Location:841883
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd00992
    Location:364441
    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) ...
    cl26464
    Location:517635
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    117280489..117375492 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269518.4XP_005269575.1  PDZ domain-containing protein 8 isoform X1

    Conserved Domains (3) summary
    cd00029
    Location:800842
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd00992
    Location:323400
    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) ...
    pfam15264
    Location:522633
    TSSC4; Tumour suppressing sub-chromosomal transferable candidate 4
  2. XM_011539265.2XP_011537567.1  PDZ domain-containing protein 8 isoform X2

    See identical proteins and their annotated locations for XP_011537567.1

  3. XM_011539266.3XP_011537568.1  PDZ domain-containing protein 8 isoform X2

    See identical proteins and their annotated locations for XP_011537568.1

    Conserved Domains (1) summary
    pfam10296
    Location:99206
    DUF2404; Putative integral membrane protein conserved region (DUF2404)

RNA

  1. XR_945601.2 RNA Sequence

  2. XR_945602.2 RNA Sequence

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