Gene

pkhd1l1.1

ID

ZDB-GENE-060503-475

Name

PKHD1 like 1, tandem duplicate 1

Symbol

pkhd1l1.1 Nomenclature History

Previous Names

pkhd1l1
si:ch211-122p23.3

Type

protein_coding_gene

Location

Chr: 19 Mapping Details/Browsers

Description

Acts upstream of or within sensory perception of sound. Predicted to be located in cell projection and plasma membrane. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness. Orthologous to human PKHD1L1 (PKHD1 like 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Makrogkikas et al., 2023

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pkhd1l1.1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Deafness, autosomal recessive 124	620794

Associated With pkhd1l1.1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR002909	IPT domain
Domain	IPR011658	PA14 domain
Domain	IPR019316	G8 domain
Domain	IPR037524	PA14/GLEYA domain
Family	IPR052387	Fibrocystin
Homologous_superfamily	IPR008972	Cupredoxin
Homologous_superfamily	IPR011050	Pectin lyase fold/virulence factor
Homologous_superfamily	IPR012334	Pectin lyase fold
Homologous_superfamily	IPR013783	Immunoglobulin-like fold
Homologous_superfamily	IPR014756	Immunoglobulin E-set
Repeat	IPR006626	Parallel beta-helix repeat