Pkhd1l1 MGI Mouse Gene Detail - MGI:2183153 - polycystic kidney and hepatic disease 1-like 1

Symbol

Pkhd1l1
Name

polycystic kidney and hepatic disease 1-like 1
Synonyms

D86 mRNA, fibrocystin L, PKHDL1

Feature Type

protein coding gene
IDs

MGI:2183153
NCBI Gene: 192190
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr15:44320890-44464765 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 16.91 cM, cytoband B3
Mapping Data

2 experiments

SNPs within 2kb

3648 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2183153	protein coding gene	Chr15:44320792-44464772 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021831	protein coding gene	Chr15:43075558-43223009 (+)
A/J	MGP_AJ_G0021791	protein coding gene	Chr15:41437701-41574123 (+)
AKR/J	MGP_AKRJ_G0021772	protein coding gene	Chr15:42662751-42797157 (+)
BALB/cJ	MGP_BALBcJ_G0021798	protein coding gene	Chr15:41515028-41649226 (+)
C3H/HeJ	MGP_C3HHeJ_G0021572	protein coding gene	Chr15:42575214-42716381 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022237	protein coding gene	Chr15:44743415-44906632 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019774	protein coding gene	Chr15:38972399-39108698 (+)
CAST/EiJ	MGP_CASTEiJ_G0021089	protein coding gene	Chr15:43092568-43245878 (+)
CBA/J	MGP_CBAJ_G0021541	protein coding gene	Chr15:46304845-46447955 (+)
DBA/2J	MGP_DBA2J_G0021665	protein coding gene	Chr15:41242765-41378826 (+)
FVB/NJ	MGP_FVBNJ_G0021643	protein coding gene	Chr15:40540317-40681182 (+)
LP/J	MGP_LPJ_G0021735	protein coding gene	Chr15:42843988-42988743 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021667	protein coding gene	Chr15:49678643-49858672 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022260	protein coding gene	Chr15:42846771-42983371 (+)
PWK/PhJ	MGP_PWKPhJ_G0020834	protein coding gene	Chr15:41295360-41436761 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020671	protein coding gene	Chr15:42529239-42671934 (+)
WSB/EiJ	MGP_WSBEiJ_G0021144	protein coding gene	Chr15:42739034-42888703 (+)

Human Ortholog

PKHD1L1, PKHD1 like 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PKHD1L1, PKHD1 like 1
Synonyms

DFNB124, PKHDL1
Links

HGNC:20313

NCBI Gene ID: 93035

neXtProt AC: NX_Q86WI1

UniProt: Q86WI1
Chr Location

8q23.1-q23.2; chr8:109362461-109537207 (+) GRCh38

MGI Vertebrate Homology

Pkhd1l1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PKHD1L1
Gene Tree

Pkhd1l1

Diseases

1 with human PKHD1L1 associations

				Human Disease	Mouse Models
				autosomal recessive nonsyndromic deafness IDs autosomal recessive nonsyndromic deafness DOID:0050565 ICD10CM:H90.3 OMIM:607197 OMIM:PS220290 ORDO:90636

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

12 phenotypes from 2 alleles in 3 genetic backgrounds
13 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	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Chemically induced (other)

2
Endonuclease-mediated

5
Targeted

4
Genomic Mutations

2 involving Pkhd1l1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

240 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

4
GO References

2

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	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

783
Tissues

56
cDNA Data

12
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pkhd1l1

ZFIN pkhd1l1.1, pkhd1l1.2

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All Sequences

47
RefSeq

10
UniProt

3
CCDS

CCDS84169.1

Ensembl

ENSMUSG00000038725 (Evidence)
NCBI Gene

192190

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038725	Ensembl Gene Model \| MGI Sequence Detail	143876	C57BL/6J	± kb
transcript	ENSMUST00000166957	Ensembl \| MGI Sequence Detail	12747	Not Applicable
polypeptide	ENSMUSP00000129522	Ensembl \| MGI Sequence Detail	4249	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000012778 fibrocystin-L

(term hierarchy)
InterPro Domains

IPR008972 Cupredoxin

IPR052387 Fibrocystin-related protein

IPR019316 G8 domain

IPR014756 Immunoglobulin E-set

IPR013783 Immunoglobulin-like fold

IPR002909 IPT domain

IPR011658 PA14 domain

IPR037524 PA14/GLEYA domain

IPR006626 Parallel beta-helix repeat

IPR012334 Pectin lyase fold

IPR011050 Pectin lyase fold/virulence factor
GlyGen

Q80ZA4 7 sites, 3 N-linked glycans (3 sites)

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All nucleic 14

Genomic 1

cDNA 12

Primer pair 1

Microarray probesets 2

Summaries

All 36

Developmental Gene Expression 3

Gene Ontology 2

Phenotypes 13
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:359106 Strelkova OS, et al., PKHD1L1 is required for stereocilia bundle maintenance, durable hearing function and resilience to noise exposure. Commun Biol. 2024 Nov 1;7(1):1423

TSS for Pkhd1l1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr131226	Chr15:44320819-44320830 (+)	-65 bp
Tssr131227	Chr15:44320841-44320882 (+)	-28 bp
Tssr131228	Chr15:44320887-44320892 (+)	0 bp
Tssr131229	Chr15:44320894-44320913 (+)	14 bp
Tssr131230	Chr15:44320918-44320930 (+)	34 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, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24