PDZD11 PDZ domain containing 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PDZD11provided by HGNC
Official Full Name: PDZ domain containing 11provided by HGNC
Primary source: HGNC:HGNC:28034
See related: Ensembl:ENSG00000120509 MIM:300632; AllianceGenome:HGNC:28034
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: PISP; AIPP1; PDZK11
Summary: Predicted to enable protein-macromolecule adaptor activity. Involved in pore complex assembly. Located in basolateral plasma membrane and cytosol. Part of pore complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in brain (RPKM 12.6), thyroid (RPKM 10.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq13.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (70286595..70289927, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (68719913..68723246, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (69506445..69509777, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The PLEKHA7-PDZD11 complex regulates the localization of the calcium pump PMCA and calcium handling in cultured cells.
Title: The PLEKHA7-PDZD11 complex regulates the localization of the calcium pump PMCA and calcium handling in cultured cells.
Cooperative binding of the tandem WW domains of PLEKHA7 to PDZD11 promotes conformation-dependent interaction with tetraspanin 33.
Title: Cooperative binding of the tandem WW domains of PLEKHA7 to PDZD11 promotes conformation-dependent interaction with tetraspanin 33.
PDZD11 forms a complex with nectin-1 and nectin-3, and its PDZ domain interacts directly with the PDZ-binding motif of nectin-1.
Title: PLEKHA7 Recruits PDZD11 to Adherens Junctions to Stabilize Nectins.
PDZD11 is an interacting partner with sodium-dependent multivitamin transporter in intestinal epithelial cells and that this interaction affects SMVT function and cell biology.
Title: Association of PDZ-containing protein PDZD11 with the human sodium-dependent multivitamin transporter.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78784 (e-PCR)
- UniSTS:64910

DXS9744 (e-PCR)
- UniSTS:14481

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in neurotransmitter secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in pore complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in pore complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic assembly at neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in adherens junction	IEA Inferred from Electronic Annotation more info
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
part_of pore complex	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: PDZ domain-containing protein 11

Names: ATPase-interacting PDZ protein; PMCA-interacting single-PDZ protein; plasma membrane calcium ATPase-interacting single-PDZ protein

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_001370174.1 → NP_001357103.1 PDZ domain-containing protein 11 isoform 1

Status: VALIDATED

Source sequence(s)

AL357752

Consensus CDS

CCDS14400.1

UniProtKB/Swiss-Prot

D3DVU3, Q5EBL8, Q6UWE1, Q9P0Q1

Related

ENSP00000363578.1, ENST00000374454.1

Conserved Domains (1) summary

cd00992
Location:45 → 125

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) ...
NM_001370175.1 → NP_001357104.1 PDZ domain-containing protein 11 isoform 1

Status: VALIDATED

Source sequence(s)

AL357752

Consensus CDS

CCDS14400.1

UniProtKB/Swiss-Prot

D3DVU3, Q5EBL8, Q6UWE1, Q9P0Q1

Conserved Domains (1) summary

cd00992
Location:45 → 125

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) ...
NM_001370176.1 → NP_001357105.1 PDZ domain-containing protein 11 isoform 1

Status: VALIDATED

Source sequence(s)

AL357752

Consensus CDS

CCDS14400.1

UniProtKB/Swiss-Prot

D3DVU3, Q5EBL8, Q6UWE1, Q9P0Q1

Conserved Domains (1) summary

cd00992
Location:45 → 125

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) ...
NM_001370177.1 → NP_001357106.1 PDZ domain-containing protein 11 isoform 1

Status: VALIDATED

Source sequence(s)

AL357752

Consensus CDS

CCDS14400.1

UniProtKB/Swiss-Prot

D3DVU3, Q5EBL8, Q6UWE1, Q9P0Q1

Conserved Domains (1) summary

cd00992
Location:45 → 125

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) ...
NM_001370178.1 → NP_001357107.1 PDZ domain-containing protein 11 isoform 2

Status: VALIDATED

Source sequence(s)

AL357752

Conserved Domains (1) summary

cd00992
Location:45 → 106

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) ...
NM_016484.5 → NP_057568.1 PDZ domain-containing protein 11 isoform 1

See identical proteins and their annotated locations for NP_057568.1

Status: VALIDATED

Source sequence(s)

AL357752

Consensus CDS

CCDS14400.1

UniProtKB/Swiss-Prot

D3DVU3, Q5EBL8, Q6UWE1, Q9P0Q1

Related

ENSP00000239666.4, ENST00000239666.9

Conserved Domains (1) summary

cd00992
Location:45 → 125

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) ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

70286595..70289927 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029568.3 → XP_016885057.1 PDZ domain-containing protein 11 isoform X1

UniProtKB/Swiss-Prot

Q5EBL8

Related

ENSP00000512018.1, ENST00000473667.6

Conserved Domains (1) summary

cd00992
Location:77 → 157

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) ...