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

    Gene ID: 118987, updated on 17-Jun-2024

    Summary

    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; AllianceGenome:HGNC:26974
    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; IDDADF
    Summary
    Predicted to enable lipid binding activity and metal ion binding activity. Involved in several processes, including mitochondrial calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and regulation of cell morphogenesis. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in bone marrow (RPKM 51.5), testis (RPKM 17.7) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PDZD8 in Genome Data Viewer
    Location:
    10q25.3-q26.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (117277274..117375440, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (118171771..118269881, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (119036785..119134951, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118975364-118975881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118976399-118976916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118982213-118982713 Neighboring gene potassium two pore domain channel subfamily K member 18 Neighboring gene SLC18A2 antisense RNA 1 Neighboring gene solute carrier family 18 member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4099 Neighboring gene CRISPRi-validated cis-regulatory element chr10.4281 Neighboring gene CRISPRi-validated cis-regulatory element chr10.4282 Neighboring gene uncharacterized LOC105378502 Neighboring gene Sharpr-MPRA regulatory region 14976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2861 Neighboring gene EMX2 opposite strand/antisense RNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:119294387-119295350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:119303472-119304094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:119304095-119304717 Neighboring gene empty spiracles homeobox 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

    Associated conditions

    Description Tests
    Intellectual developmental disorder with autism and dysmorphic facies
    MedGen: C5774206 OMIM: 620021 GeneReviews: Not available
    not available

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ25412, FLJ34427

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    PDZ domain-containing protein 8
    Names
    sarcoma antigen NY-SAR-84/NY-SAR-104

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_173791.5NP_776152.1  PDZ domain-containing protein 8

      See identical proteins and their annotated locations for NP_776152.1

      Status: VALIDATED

      Source sequence(s)
      AL359836, AL391988
      Consensus CDS
      CCDS7600.1
      UniProtKB/Swiss-Prot
      Q86WE0, Q86WE5, Q8NEN9, Q9UFF1
      Related
      ENSP00000334642.5, ENST00000334464.7
      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: 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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      117277274..117375440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269518.5XP_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_047424575.1XP_047280531.1  PDZ domain-containing protein 8 isoform X2

    3. XM_011539265.3XP_011537567.1  PDZ domain-containing protein 8 isoform X3

      See identical proteins and their annotated locations for XP_011537567.1

    4. XM_047424576.1XP_047280532.1  PDZ domain-containing protein 8 isoform X3

    5. XM_011539266.4XP_011537568.1  PDZ domain-containing protein 8 isoform X3

      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_945602.3 RNA Sequence

    2. XR_007061943.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      118171771..118269881 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364738.1XP_054220713.1  PDZ domain-containing protein 8 isoform X1

    2. XM_054364739.1XP_054220714.1  PDZ domain-containing protein 8 isoform X2

    3. XM_054364740.1XP_054220715.1  PDZ domain-containing protein 8 isoform X3

    4. XM_054364741.1XP_054220716.1  PDZ domain-containing protein 8 isoform X3

    RNA

    1. XR_008488165.1 RNA Sequence