Pdzk1ip1 PDZK1 interacting protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pdzk1ip1provided by MGI
Official Full Name: PDZK1 interacting protein 1provided by MGI
Primary source: MGI:MGI:1914432
See related: Ensembl:ENSMUSG00000028716 AllianceGenome:MGI:1914432
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Map17; 0610007F13Rik; 2700030M23Rik
Summary: Predicted to be located in membrane. Predicted to be integral component of membrane. Is expressed in several structures, including central nervous system; dorsal aorta; metanephros; naris; and retina. Orthologous to human PDZK1IP1 (PDZK1 interacting protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in kidney adult (RPKM 657.0), colon adult (RPKM 64.0) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D1; 4 52.75 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (114945905..114951091)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (115088708..115093894)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These findings indicate that PDZK1IP1 interacts with Smad4 and thereby suppresses the TGF-beta signaling pathway.
Title: PDZK1-interacting protein 1 (PDZK1IP1) traps Smad4 protein and suppresses transforming growth factor-β (TGF-β) signaling.
Systematic analysis of Pdzk1ip1 is reported.
Title: Systematic analysis of a simple adaptor protein PDZK1: ligand identification, interaction and functional prediction of complex.
Knockout mice for 3 members of the sodium-hydrogen regulatory factor (NHERF) family of PDZ adaptor proteins, NHERF1 (EBP50), NHERF2 (E3KARP) and NHERF3 (PDZK1), have helped to show that NHERF1 is essential for both normal and mutant CFTR function [review]
Title: Knockout mouse models for intestinal electrolyte transporters and regulatory PDZ adaptors: new insights into cystic fibrosis, secretory diarrhoea and fructose-induced hypertension.
MAP17 1) interacts with PDZK1 only, 2) associates with the NH2 terminus of NaPi-IIa within the PDZK1/NaPi-IIa/MAP17 complex, and 3) acts as an apical anchoring site for PDZK1.
Title: Interactions of MAP17 with the NaPi-IIa/PDZK1 protein complex in renal proximal tubular cells.
membrane associated protein 17 may be an endogenous regulator of cellular PDZ domain containing 1(PDZK1) levels by regulating PDZK1 turnover
Title: Identification of small PDZK1-associated protein, DD96/MAP17, as a regulator of PDZK1 and plasma high density lipoprotein levels.
the interaction between MAP17, NHERF3/4, and NaPiIIa in the trans-Golgi network could be an important intermediate or alternate path in the internalization of NaPiIIa
Title: Interaction of MAP17 with NHERF3/4 induces translocation of the renal Na/Pi IIa transporter to the trans-Golgi.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: PDZK1-interacting protein 1

Names: 17 kDa membrane-associated protein; membrane-associated protein 17 (Map17)

NCBI Reference Sequences (RefSeq)

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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)

NM_001164557.1 → NP_001158029.1 PDZK1-interacting protein 1 isoform 1

See identical proteins and their annotated locations for NP_001158029.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AK007936, AL670035, DV058382, EH108199

Consensus CDS

CCDS51272.1

UniProtKB/TrEMBL

G3UW41

Related

ENSMUSP00000128118.2, ENSMUST00000171877.8

Conserved Domains (1) summary

pfam15807
Location:84 → 181

MAP17; Membrane-associated protein 117 kDa, PDZK1-interacting protein 1
NM_001164558.1 → NP_001158030.1 PDZK1-interacting protein 1 isoform 2

See identical proteins and their annotated locations for NP_001158030.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks a segment of the 5' UTR and 5' coding region, and uses a downstream translational start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.

Source sequence(s)

AL645473, AL670035, DV057288, DV058382

Consensus CDS

CCDS18487.1

UniProtKB/Swiss-Prot

Q9CQH0

UniProtKB/TrEMBL

A8C1X3

Related

ENSMUSP00000136049.2, ENSMUST00000177647.8

Conserved Domains (1) summary

pfam15807
Location:6 → 114

MAP17; Membrane-associated protein 117 kDa, PDZK1-interacting protein 1
NM_026018.3 → NP_080294.1 PDZK1-interacting protein 1 isoform 2

See identical proteins and their annotated locations for NP_080294.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks a segment of the 5' UTR and 5' coding region, and uses a downstream translational start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.

Source sequence(s)

AK008253, AL670035, DV058382

Consensus CDS

CCDS18487.1

UniProtKB/Swiss-Prot

Q9CQH0

UniProtKB/TrEMBL

A8C1X3

Related

ENSMUSP00000102158.3, ENSMUST00000106548.9

Conserved Domains (1) summary

pfam15807
Location:6 → 114

MAP17; Membrane-associated protein 117 kDa, PDZK1-interacting protein 1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

114945905..114951091

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030253719.2 → XP_030109579.1 PDZK1-interacting protein 1 isoform X1

UniProtKB/Swiss-Prot

Q9CQH0

UniProtKB/TrEMBL

A8C1X3

Conserved Domains (1) summary

pfam15807
Location:6 → 114

MAP17; Membrane-associated protein 117 kDa, PDZK1-interacting protein 1