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

Gene ID: 79849, updated on 26-May-2016
Official Symbol
PDZD3provided by HGNC
Official Full Name
PDZ domain containing 3provided by HGNC
Primary source
HGNC:HGNC:19891
See related
Ensembl:ENSG00000172367 HPRD:06191; MIM:607146; Vega:OTTHUMG00000166224
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]
Orthologs
Location:
11q23.3
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (119185436..119190223)
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 coiled-coil domain containing 153 Neighboring gene Cbl proto-oncogene Neighboring gene microRNA 6756 Neighboring gene melanoma cell adhesion molecule

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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 
Process Evidence Code Pubs
cGMP-mediated signaling NAS
Non-traceable Author Statement
more info
PubMed 
ion transport NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of cGMP biosynthetic process TAS
Traceable Author Statement
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 
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
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

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_001168468.1NP_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, OTTHUMP00000232208, ENST00000355547, OTTHUMT00000388473
    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_024791.3NP_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, OTTHUMP00000232209, ENST00000322712, OTTHUMT00000388476
    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_033122.1 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, DA381610
    Related
    ENST00000527028

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    119185436..119190223
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543003.1XP_011541305.1  

    See identical proteins and their annotated locations for XP_011541305.1

    UniProtKB/Swiss-Prot
    Q86UT5
    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) ...
  2. XM_011543001.1XP_011541303.1  

    See identical proteins and their annotated locations for XP_011541303.1

    UniProtKB/Swiss-Prot
    Q86UT5
    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) ...
  3. XM_011543005.1XP_011541307.1  

    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_011543000.1XP_011541302.1  

    See identical proteins and their annotated locations for XP_011541302.1

    UniProtKB/Swiss-Prot
    Q86UT5
    Related
    ENSP00000434559, OTTHUMP00000232205, ENST00000525131, OTTHUMT00000388467
    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) ...
  5. XM_011543004.1XP_011541306.1  

    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_011543006.1XP_011541308.1  

    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_011543007.1XP_011541309.1  

    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) ...
  8. XM_011543008.1XP_011541310.1  

    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) ...
  9. XM_011543002.1XP_011541304.1  

    See identical proteins and their annotated locations for XP_011541304.1

    UniProtKB/Swiss-Prot
    Q86UT5
    Related
    ENSP00000431164, OTTHUMP00000232206, ENST00000531114, OTTHUMT00000388471
    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) ...

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    118942433..118947199
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)