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Protein

Na(+)/H(+) exchange regulatory cofactor NHE-RF4

Gene

PDZD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Acts as a regulatory protein that associates with GUCY2C and negatively modulates its heat-stable enterotoxin-mediated activation (PubMed:11950846). Stimulates SLC9A3 activity in the presence of elevated calcium ions (PubMed:19088451).2 Publications

GO - Molecular functioni

  • guanylate cyclase inhibitor activity Source: UniProtKB
  • ion channel inhibitor activity Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB
  • ubiquitin-specific protease binding Source: UniProtKB

GO - Biological processi

  • ion transport Source: UniProtKB
  • negative regulation of cGMP-mediated signaling Source: UniProtKB
  • receptor guanylyl cyclase signaling pathway Source: UniProtKB
  • response to toxic substance Source: UniProtKB
  • water transport Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-8942233 Intestinal infectious diseases

Names & Taxonomyi

Protein namesi
Recommended name:
Na(+)/H(+) exchange regulatory cofactor NHE-RF4
Short name:
NHERF-4
Alternative name(s):
Intestinal and kidney-enriched PDZ protein
Natrium-phosphate cotransporter IIa C-terminal-associated protein 2
Short name:
Na/Pi cotransporter C-terminal-associated protein 2
Short name:
NaPi-Cap2
PDZ domain-containing protein 2
PDZ domain-containing protein 3
Sodium-hydrogen exchanger regulatory factor 4
Gene namesi
Name:PDZD3
Synonyms:IKEPP, NHERF4, PDZK2
ORF Names:DLNB27
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000172367.15
HGNCiHGNC:19891 PDZD3
MIMi607146 gene
neXtProtiNX_Q86UT5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi79849
OpenTargetsiENSG00000172367
PharmGKBiPA134911718

Polymorphism and mutation databases

BioMutaiPDZD3
DMDMi308153467

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000582921 – 571Na(+)/H(+) exchange regulatory cofactor NHE-RF4Add BLAST571

Proteomic databases

MaxQBiQ86UT5
PaxDbiQ86UT5
PeptideAtlasiQ86UT5
PRIDEiQ86UT5
ProteomicsDBi69882
69883 [Q86UT5-2]
69884 [Q86UT5-3]
69885 [Q86UT5-4]
69886 [Q86UT5-5]
TopDownProteomicsiQ86UT5-4 [Q86UT5-4]

PTM databases

iPTMnetiQ86UT5
PhosphoSitePlusiQ86UT5

Expressioni

Tissue specificityi

Expressed in kidney and the gastrointestinal tract. Not detected in brain, heart, skeletal muscle or cells of hematopoietic origin.1 Publication

Gene expression databases

BgeeiENSG00000172367 Expressed in 74 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_PDZD3
ExpressionAtlasiQ86UT5 baseline and differential
GenevisibleiQ86UT5 HS

Interactioni

Subunit structurei

Interacts with the C-terminal region of GUCY2C (PubMed:11950846). Interacts with the C-terminal region SLC9A3 and the interactions decrease in response to elevated calcium ion levels (PubMed:19088451). Interacts with the C-terminal region of SLC34A1 (By similarity). Interacts with USP2 isoform 4 (PubMed:26756164).By similarity3 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122940, 8 interactors
IntActiQ86UT5, 6 interactors
STRINGi9606.ENSP00000347742

Structurei

Secondary structure

1571
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ86UT5
SMRiQ86UT5
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ86UT5

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini115 – 196PDZ 1PROSITE-ProRule annotationAdd BLAST82
Domaini223 – 301PDZ 2PROSITE-ProRule annotationAdd BLAST79
Domaini329 – 412PDZ 3PROSITE-ProRule annotationAdd BLAST84
Domaini467 – 548PDZ 4PROSITE-ProRule annotationAdd BLAST82

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410ITA7 Eukaryota
ENOG410XURS LUCA
GeneTreeiENSGT00530000062999
HOGENOMiHOG000048712
HOVERGENiHBG080760
InParanoidiQ86UT5
OMAiCHVVKDE
OrthoDBiEOG091G0KAL
PhylomeDBiQ86UT5
TreeFamiTF350449

Family and domain databases

InterProiView protein in InterPro
IPR031200 NHERF-4
IPR001478 PDZ
IPR036034 PDZ_sf
PANTHERiPTHR14191:SF20 PTHR14191:SF20, 1 hit
PfamiView protein in Pfam
PF00595 PDZ, 4 hits
SMARTiView protein in SMART
SM00228 PDZ, 4 hits
SUPFAMiSSF50156 SSF50156, 4 hits
PROSITEiView protein in PROSITE
PS50106 PDZ, 4 hits

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q86UT5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVTPSPPGNH SLSLEAPRLH TASDLLGNHS LGLPLITALV GSRDRRGRVF
60 70 80 90 100
SPVPVPLPTN PTTQHPTRQK LPSTLSGHRV CQAHGEPVLG LCPLLPLFCC
110 120 130 140 150
PPHPPDPWSL ERPRFCLLSK EEGKSFGFHL QQELGRAGHV VCRVDPGTSA
160 170 180 190 200
QRQGLQEGDR ILAVNNDVVE HEDYAVVVRR IRASSPRVLL TVLARHAHDV
210 220 230 240 250
ARAQLGEDAH LCPTLGPGVR PRLCHIVKDE GGFGFSVTHG NQGPFWLVLS
260 270 280 290 300
TGGAAERAGV PPGARLLEVN GVSVEKFTHN QLTRKLWQSG QQVTLLVAGP
310 320 330 340 350
EVEEQCRQLG LPLAAPLAEG WALPTKPRCL HLEKGPQGFG FLLREEKGLD
360 370 380 390 400
GRPGQFLWEV DPGLPAKKAG MQAGDRLVAV AGESVEGLGH EETVSRIQGQ
410 420 430 440 450
GSCVSLTVVD PEADRFFSMV RLSPLLFLEN TEAPASPRGS SSASLVETED
460 470 480 490 500
PSLEDTSVPS VPLGSRQCFL YPGPGGSYGF RLSCVASGPR LFISQVTPGG
510 520 530 540 550
SAARAGLQVG DVILEVNGYP VGGQNDLERL QQLPEAEPPL CLKLAARSLR
560 570
GLEAWIPPGA AEDWALASDL L
Length:571
Mass (Da):61,032
Last modified:October 5, 2010 - v2
Checksum:iB56CDC91348EE592
GO
Isoform 21 Publication (identifier: Q86UT5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: Missing.
     67-105: TRQKLPSTLS...PLFCCPPHPP → MEKAADLQDT...LSLAEDHDPY

Show »
Length:505
Mass (Da):54,217
Checksum:iACDAE2A896787C5D
GO
Isoform 3Curated (identifier: Q86UT5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: Missing.
     67-105: TRQKLPSTLS...PLFCCPPHPP → MEKAADLQDT...LSLAEDHDPY
     272-285: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:491
Mass (Da):52,548
Checksum:i46F3C5D292274D56
GO
Isoform 4Curated (identifier: Q86UT5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     355-386: QFLWEVDPGLPAKKAGMQAGDRLVAVAGESVE → EWEPWGRWGKVGLGVGTQAYIHLSVHRRGVPV
     387-571: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:386
Mass (Da):41,888
Checksum:iBE18E918ECD4009D
GO
Isoform 5Curated (identifier: Q86UT5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: Missing.
     67-105: TRQKLPSTLS...PLFCCPPHPP → MEKAADLQDT...LSLAEDHDPY
     287-571: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:220
Mass (Da):24,105
Checksum:i87EC9259F8262E0A
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PPZ1E9PPZ1_HUMAN
Na(+)/H(+) exchange regulatory cofa...
PDZD3
492Annotation score:
E9PRB0E9PRB0_HUMAN
Na(+)/H(+) exchange regulatory cofa...
PDZD3
119Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti112R → P in BAB15474 (PubMed:14702039).Curated1
Sequence conflicti125S → G in BAC03780 (PubMed:14702039).Curated1
Sequence conflicti286L → V in BAB15474 (PubMed:14702039).Curated1
Sequence conflicti438R → Q in BAC76050 (Ref. 2) Curated1
Sequence conflicti438R → Q in AAH29042 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0517861 – 66Missing in isoform 2, isoform 3 and isoform 5. 3 PublicationsAdd BLAST66
Alternative sequenceiVSP_05178767 – 105TRQKL…PPHPP → MEKAADLQDTASLTLKFKFN PKLGIDNPVLSLAEDHDPY in isoform 2, isoform 3 and isoform 5. 3 PublicationsAdd BLAST39
Alternative sequenceiVSP_051788272 – 285Missing in isoform 3. 2 PublicationsAdd BLAST14
Alternative sequenceiVSP_051789287 – 571Missing in isoform 5. 2 PublicationsAdd BLAST285
Alternative sequenceiVSP_051790355 – 386QFLWE…GESVE → EWEPWGRWGKVGLGVGTQAY IHLSVHRRGVPV in isoform 4. 2 PublicationsAdd BLAST32
Alternative sequenceiVSP_051791387 – 571Missing in isoform 4. 2 PublicationsAdd BLAST185

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY047359 mRNA Translation: AAL10686.1
AB094096 mRNA Translation: BAC76050.1
AK026409 mRNA Translation: BAB15474.1
AK091966 mRNA Translation: BAC03780.1
AP002956 Genomic DNA No translation available.
BC029042 mRNA Translation: AAH29042.1
CCDSiCCDS53719.1 [Q86UT5-2]
CCDS8417.1 [Q86UT5-3]
RefSeqiNP_001161940.1, NM_001168468.1 [Q86UT5-2]
NP_079067.3, NM_024791.3 [Q86UT5-3]
XP_011541302.1, XM_011543000.2 [Q86UT5-1]
XP_011541303.1, XM_011543001.2 [Q86UT5-1]
XP_011541304.1, XM_011543002.2 [Q86UT5-1]
UniGeneiHs.374726

Genome annotation databases

EnsembliENST00000322712; ENSP00000327107; ENSG00000172367 [Q86UT5-3]
ENST00000355547; ENSP00000347742; ENSG00000172367 [Q86UT5-2]
ENST00000531114; ENSP00000431164; ENSG00000172367 [Q86UT5-1]
GeneIDi79849
KEGGihsa:79849
UCSCiuc001pvy.4 human [Q86UT5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY047359 mRNA Translation: AAL10686.1
AB094096 mRNA Translation: BAC76050.1
AK026409 mRNA Translation: BAB15474.1
AK091966 mRNA Translation: BAC03780.1
AP002956 Genomic DNA No translation available.
BC029042 mRNA Translation: AAH29042.1
CCDSiCCDS53719.1 [Q86UT5-2]
CCDS8417.1 [Q86UT5-3]
RefSeqiNP_001161940.1, NM_001168468.1 [Q86UT5-2]
NP_079067.3, NM_024791.3 [Q86UT5-3]
XP_011541302.1, XM_011543000.2 [Q86UT5-1]
XP_011541303.1, XM_011543001.2 [Q86UT5-1]
XP_011541304.1, XM_011543002.2 [Q86UT5-1]
UniGeneiHs.374726

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2V90X-ray2.00A/B/C/D/E/F326-415[»]
ProteinModelPortaliQ86UT5
SMRiQ86UT5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122940, 8 interactors
IntActiQ86UT5, 6 interactors
STRINGi9606.ENSP00000347742

PTM databases

iPTMnetiQ86UT5
PhosphoSitePlusiQ86UT5

Polymorphism and mutation databases

BioMutaiPDZD3
DMDMi308153467

Proteomic databases

MaxQBiQ86UT5
PaxDbiQ86UT5
PeptideAtlasiQ86UT5
PRIDEiQ86UT5
ProteomicsDBi69882
69883 [Q86UT5-2]
69884 [Q86UT5-3]
69885 [Q86UT5-4]
69886 [Q86UT5-5]
TopDownProteomicsiQ86UT5-4 [Q86UT5-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322712; ENSP00000327107; ENSG00000172367 [Q86UT5-3]
ENST00000355547; ENSP00000347742; ENSG00000172367 [Q86UT5-2]
ENST00000531114; ENSP00000431164; ENSG00000172367 [Q86UT5-1]
GeneIDi79849
KEGGihsa:79849
UCSCiuc001pvy.4 human [Q86UT5-1]

Organism-specific databases

CTDi79849
DisGeNETi79849
EuPathDBiHostDB:ENSG00000172367.15
GeneCardsiPDZD3
H-InvDBiHIX0201614
HGNCiHGNC:19891 PDZD3
MIMi607146 gene
neXtProtiNX_Q86UT5
OpenTargetsiENSG00000172367
PharmGKBiPA134911718
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ITA7 Eukaryota
ENOG410XURS LUCA
GeneTreeiENSGT00530000062999
HOGENOMiHOG000048712
HOVERGENiHBG080760
InParanoidiQ86UT5
OMAiCHVVKDE
OrthoDBiEOG091G0KAL
PhylomeDBiQ86UT5
TreeFamiTF350449

Enzyme and pathway databases

ReactomeiR-HSA-8942233 Intestinal infectious diseases

Miscellaneous databases

EvolutionaryTraceiQ86UT5
GenomeRNAii79849
PROiPR:Q86UT5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172367 Expressed in 74 organ(s), highest expression level in mucosa of transverse colon
CleanExiHS_PDZD3
ExpressionAtlasiQ86UT5 baseline and differential
GenevisibleiQ86UT5 HS

Family and domain databases

InterProiView protein in InterPro
IPR031200 NHERF-4
IPR001478 PDZ
IPR036034 PDZ_sf
PANTHERiPTHR14191:SF20 PTHR14191:SF20, 1 hit
PfamiView protein in Pfam
PF00595 PDZ, 4 hits
SMARTiView protein in SMART
SM00228 PDZ, 4 hits
SUPFAMiSSF50156 SSF50156, 4 hits
PROSITEiView protein in PROSITE
PS50106 PDZ, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiNHRF4_HUMAN
AccessioniPrimary (citable) accession number: Q86UT5
Secondary accession number(s): Q8N6R4
, Q8NAW7, Q8NEX7, Q9H5Z3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: October 5, 2010
Last modified: November 7, 2018
This is version 130 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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