Pdzk1 MGI Mouse Gene Detail - MGI:1928901

Symbol

Pdzk1
Name

PDZ domain containing 1
Synonyms

1700023D20Rik, 2610507N21Rik, 4921513F16Rik, D3Ertd537e, mPDZK1

Feature Type

protein coding gene
IDs

MGI:1928901
NCBI Gene: 59020
Gene Overview

MyGene.info: PDZK1
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr3:96829456-96870926 bp, + strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 42.00 cM
Mapping Data

3 experiments

SNPs within 2kb

239 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1928901	protein coding gene	Chr3:96829284-96870926 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027634	protein coding gene	Chr3:97733304-97774843 (+)
A/J	MGP_AJ_G0027596	protein coding gene	Chr3:94603781-94638366 (+)
AKR/J	MGP_AKRJ_G0027563	protein coding gene	Chr3:96845629-96880554 (+)
BALB/cJ	MGP_BALBcJ_G0027606	protein coding gene	Chr3:94417905-94462991 (+)
C3H/HeJ	MGP_C3HHeJ_G0027338	protein coding gene	Chr3:97137654-97178787 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028052	protein coding gene	Chr3:101297371-101339540 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025393	protein coding gene	Chr3:90880037-90915039 (+)
CAST/EiJ	MGP_CASTEiJ_G0026793	protein coding gene	Chr3:96404271-96452074 (+)
CBA/J	MGP_CBAJ_G0027313	protein coding gene	Chr3:105011357-105059066 (+)
DBA/2J	MGP_DBA2J_G0027456	protein coding gene	Chr3:93929576-93970760 (+)
FVB/NJ	MGP_FVBNJ_G0027425	protein coding gene	Chr3:91944377-91978526 (+)
LP/J	MGP_LPJ_G0027561	protein coding gene	Chr3:99012395-99047672 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027451	protein coding gene	Chr3:111085184-111129175 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028106	protein coding gene	Chr3:96453527-96492899 (+)
PWK/PhJ	MGP_PWKPhJ_G0026518	protein coding gene	Chr3:93768800-93806505 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0026340	protein coding gene	Chr3:94755633-94786856 (+)
WSB/EiJ	MGP_WSBEiJ_G0026871	protein coding gene	Chr3:96908296-96949545 (+)

Human Ortholog

PDZK1, PDZ domain containing 1

Vertebrate Orthologs

10

Human Ortholog

PDZK1, PDZ domain containing 1
Orthology source: HomoloGene, HGNC
Synonyms

CAP70, CLAMP, NHERF3, NHERF-3, PDZD1
Links

HGNC:8821

NCBI Gene ID: 5174

neXtProt AC: NX_Q5T2W1

UniProt: Q5T2W1
Chr Location

1q21.1; chr1:145670852-145707507 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 1964
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: PDZK1
Gene Tree

Pdzk1

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References

1 with disease annotations

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Phenotype Summary

27 phenotypes from 3 alleles in 3 genetic backgrounds
36 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Chemically induced (other)

1
Gene trapped

1
Radiation induced

1
Targeted

7
Genomic Mutations

3 involving Pdzk1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

5 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in increased serum cholesterol levels.

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All GO Annotations

25
GO References

9

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

677
Tissues

32
cDNA Data

15
Literature Summary

7

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pdzk1

ZFIN pdzk1

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Pdzk1 interacts with 138 markers (Mir7-1, Mir7-2, Mir7b, ...) View All

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All Sequences

67
RefSeq

10
UniProt

5
CCDS

CCDS17649.1

Ensembl

ENSMUSG00000038298 (Evidence)
NCBI Gene

59020

			Length	Strain/Species	Flank
genomic	59020	NCBI Gene Model \| MGI Sequence Detail	41471	C57BL/6J	± kb
transcript	NM_001355710	RefSeq \| MGI Sequence Detail	2673	C57BL/6
polypeptide	Q9JIL4	UniProt \| EBI \| MGI Sequence Detail	519	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000012528 Na(+)/H(+) exchange regulatory cofactor NHE-RF3

(term hierarchy)
PDB

2D90, 2EDZ, 3NGH, 3R68, 3R69, 4F8K, 4R2Z
InterPro Domains

IPR001478 PDZ domain

IPR036034 PDZ superfamily

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All nucleic 23

Genomic 1

cDNA 17

Primer pair 3

Other 2

Microarray probesets 3

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MGI:1277210, MGI:1918104, MGI:1919393, MGI:1919470, MGI:2139658, MGI:2139665, MGI:2139848

Summaries

All 80

Developmental Gene Expression 7

Diseases 1

Gene Ontology 9

Phenotypes 36
Earliest

J:66318 Kocher O, et al., PDZK1, a novel PDZ domain-containing protein up-regulated in carcinomas and mapped to chromosome 1q21, interacts with cMOAT (MRP2), the multidrug resistance-associated protein. Lab Invest. 1999 Sep;79(9):1161-70
Latest

J:288446 Christians A, et al., Inflammation-like changes in the urothelium of Lifr-deficient mice and LIFR-haploinsufficient humans with urinary tract anomalies. Hum Mol Genet. 2020 May 8;29(7):1192-1204

TSS for Pdzk1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr30771	Chr3:96829427-96829435 (+)	-25 bp
Tssr30772	Chr3:96829459-96829474 (+)	11 bp
Tssr30773	Chr3:96829493-96829501 (+)	41 bp
Tssr30774	Chr3:96830069-96830115 (+)	636 bp
Tssr30775	Chr3:96830123-96830139 (+)	675 bp
Tssr30776	Chr3:96832142-96832181 (+)	2,706 bp
Tssr30777	Chr3:96832182-96832191 (+)	2,731 bp
Tssr30778	Chr3:96833218-96833257 (+)	3,782 bp
Tssr30779	Chr3:96833265-96833276 (+)	3,815 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 01/05/2021 MGI 6.16