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PDZD3 PDZ domain containing 3 [ Homo sapiens (human) ]

Gene ID: 79849, updated on 12-Oct-2019

Summary

Official Symbol
PDZD3provided by HGNC
Official Full Name
PDZ domain containing 3provided by HGNC
Primary source
HGNC:HGNC:19891
See related
Ensembl:ENSG00000172367 MIM:607146
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
IKEPP; PDZK2; NHERF4
Summary
Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]
Expression
Biased expression in duodenum (RPKM 18.4), small intestine (RPKM 16.9) and 4 other tissues See more
Orthologs

Genomic context

See PDZD3 in Genome Data Viewer
Location:
11q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (119185457..119190218)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119056127..119060932)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily G member 4 Neighboring gene NLR family member X1 Neighboring gene Sharpr-MPRA regulatory region 11099 Neighboring gene coiled-coil domain containing 153 Neighboring gene small nucleolar RNA, C/D box 150

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?

Pathways from BioSystems

  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • Intestinal infectious diseases, organism-specific biosystem (from REACTOME)
    Intestinal infectious diseases, organism-specific biosystemGastroenteritis, also known as infectious diarrhea, is an inflammatory disease of the stomach and small intestine caused by infections by viruses, bacteria, parasites and fungi. Signs and symptoms in...
  • Uptake and actions of bacterial toxins, organism-specific biosystem (from REACTOME)
    Uptake and actions of bacterial toxins, organism-specific biosystemThe toxic effects of many bacteria on their human hosts are mediated by proteins released from the bacteria that enter human cells and disrupt critical cellular functions (Henkel et al. 2010). All of...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22756

Gene Ontology Provided by GOA

Function Evidence Code Pubs
guanylate cyclase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
ion channel inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-specific protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ion transport NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of cGMP-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of guanylate cyclase activity IEA
Inferred from Electronic Annotation
more info
 
receptor guanylyl cyclase signaling pathway IC
Inferred by Curator
more info
PubMed 
response to toxic substance TAS
Traceable Author Statement
more info
PubMed 
water transport NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
apical part of cell IDA
Inferred from Direct Assay
more info
PubMed 
brush border IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
PubMed 
subapical complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
Na(+)/H(+) exchange regulatory cofactor NHE-RF4
Names
NHERF-4
PDZ domain containing 2
PDZ domain-containing protein 2
PDZ domain-containing protein 3
intestinal and kidney enriched PDZ protein
na/Pi cotransporter C-terminal-associated protein 2
naPi-Cap2
natrium-phosphate cotransporter IIa C-terminal-associated protein 2
sodium-hydrogen exchanger regulatory factor 4

NCBI Reference Sequences (RefSeq)

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_001168468.2NP_001161940.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform 1

    See identical proteins and their annotated locations for NP_001161940.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB094096, AY047359, DA381610
    Consensus CDS
    CCDS53719.1
    UniProtKB/Swiss-Prot
    Q86UT5
    Related
    ENSP00000347742.5, ENST00000355547.10
    Conserved Domains (1) summary
    cd00992
    Location:47127
    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) ...
  2. NM_024791.4NP_079067.3  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform 2

    See identical proteins and their annotated locations for NP_079067.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AB094096, AP002956, BC029042, DA381610
    Consensus CDS
    CCDS8417.1
    UniProtKB/Swiss-Prot
    Q86UT5
    UniProtKB/TrEMBL
    B0YJ61
    Related
    ENSP00000327107.4, ENST00000322712.4
    Conserved Domains (1) summary
    cd00992
    Location:47127
    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) ...

RNA

  1. NR_033122.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB094096, AK298333, AP002956
    Related
    ENST00000525131.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    119185457..119190218
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543001.2XP_011541303.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X1

    See identical proteins and their annotated locations for XP_011541303.1

    UniProtKB/Swiss-Prot
    Q86UT5
    Conserved Domains (2) summary
    smart00228
    Location:326411
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:113193
    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) ...
  2. XM_017018334.1XP_016873823.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X2

    Conserved Domains (2) summary
    smart00228
    Location:312397
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:113193
    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) ...
  3. XM_011543005.2XP_011541307.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X3

    Conserved Domains (1) summary
    cd00992
    Location:48128
    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. XM_011543000.2XP_011541302.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X1

    See identical proteins and their annotated locations for XP_011541302.1

    UniProtKB/Swiss-Prot
    Q86UT5
    Conserved Domains (2) summary
    smart00228
    Location:326411
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:113193
    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) ...
  5. XM_017018335.1XP_016873824.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X4

    Conserved Domains (1) summary
    cd00992
    Location:113193
    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) ...
  6. XM_017018336.1XP_016873825.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X5

    Conserved Domains (1) summary
    cd00992
    Location:113193
    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) ...
  7. XM_017018337.1XP_016873826.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X6

  8. XM_011543002.2XP_011541304.1  Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform X1

    See identical proteins and their annotated locations for XP_011541304.1

    UniProtKB/Swiss-Prot
    Q86UT5
    Related
    ENSP00000431164.1, ENST00000531114.5
    Conserved Domains (2) summary
    smart00228
    Location:326411
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:113193
    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) ...
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