1. Gene
  2. PKD1L1 - polycystin 1 like 1, transient receptor potential channel interacting Gene

PKD1L1 - polycystin 1 like 1, transient receptor potential channel interacting Gene

Homo sapiens

Also known as HTX8; PRO19563

Gene ID: 168507 | Gene type: protein coding

About PKD1L1

Cytogenetic location: 7p12.3 Genomic coordinates (GRCh38): 7:47,774,614-47,960,906 (from NCBI)

This gene has 8 transcripts (splice variants), 128 orthologues, 10 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, Lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

PKD1L1 Products(1)

mRNA Protein Name
NM_138295.5 NP_612152.1 polycystic kidney disease protein 1-like 1

PKD1L1 Protein Structure

PKD

PKD: PKD domain (599 - 662)

REJ

REJ: REJ domain (707 - 1318)

PLAT

PLAT: PLAT/LH2 domain (1798 - 1903)

PKD_channel

PKD_channel: Polycystin cation channel (2441 - 2667)

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  • 2849 a.a.
Protein Preferred Names Protein Names

polycystic kidney disease protein 1-like 1

PC1-like 1 protein

Related Diseases

Diseases Alias
Heterotaxy, Visceral, 8, Autosomal

HTX8

Dextrocardia With Situs Inversus

Situs Inversus Totalis

Complete Situs Inversus

Complete Situs Inversus Viscerum

Situs Inversus

Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Kidney Disease

Renal Failure

Kidney Failure

Kidney Diseases

Nephropathy

Abnormality Of The Kidney

Impaired Renal Function Disease

Renal Anomaly

Kidney Dysfunction

Renal Disease

Nephropathies

Renal Failure Adverse Event

Abnormal Renal Function

Diaphanospondylodysostosis

Vertebral Ossification, Defect In, With Nephrogenic Rests

DSD

Defect In Vertebral Ossification With Nephrogenic Rests

Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 2

PKD2

Polycystic Kidney Disease, Adult, Type Ii

Apkd2

Polycystic Kidney Disease, Type 2

Adpkd2

Adult Polycystic Kidney Disease Type 2

Autosomal Dominant Polycystic Kidney Disease 2

Pkd-2

Polycystic Kidney Disease Adult Type Ii

Polycystic Kidney Type 2 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 2

Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 1

PKD1

Adpkd

Polycystic Kidney Disease, Adult, Type I

Apkd1

Potter Type Iii Polycystic Kidney Disease

Polycystic Kidney Disease, Adult

Potter Type Iii Polycystic Kidney Disease, Formerly

Polycystic Kidney Disease, Type 1

Adpkd1

Adult Polycystic Kidney Disease Type 1

Autosomal Dominant Polycystic Kidney Disease 1

Pkd-1

Polycystic Kidney Disease Adult

Polycystic Kidney Disease Type I

Polycystic Kidneys

Polycystic Kidney Disease, Adult Type I

Polycystic Kidney Type 1 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 1

Polycystic Kidney, Autosomal Dominant

Polycystic Kidney, Type 1 Autosomal Dominant Disease

Polycystic Kidney Diseases

Ascending Cholangitis
Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

Transposition Of The Great Arteries, Dextro-Looped

Transposition Of The Great Arteries

DTGA1

Dextro-Looped Transposition Of The Great Arteries

DTGA

Congenitally Uncorrected Transposition Of The Great Arteries

Congenitally Uncorrected Transposition Of The Great Vessels

D-Tga

Isolated Ventriculoarterial Discordance

Ventriculoarterial Discordance With Atrioventricular Concordance

Dextro-Transposition Of The Great Arteries

Transposition Of The Great Vessels

Great Vessels Transposition

Transposition Of The Great Arteries, Dextro-Looped 1

Arteries, Great, Transposition, Dextro-Looped

Ventriculoarterial Discordance, Isolated

D-Transposition Of The Great Arteries

Complete Transposition

Tga

Tgv

Transposition Of Great Vessels

Transposition Of The Great Arteries Dextro-Looped 1

Dextro-Looped Transposition Of The Great Arteries 1

Discordant Ventriculoarterial Connection

Complete Transposition Of Great Vessels

Great Vessels Complete Transposition

Total Great Vessel Transposition

Transposition Of Great Arteries

Complete Tga - [Transposition Of The Great Arteries]

Tga - [Transposition Of Great Arteries]

Tgv - [Transposition Of Great Vessels]

Transposition Of Great Vessels Nos

Transposed Vessels Nos

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease

Isolated Polycystic Liver Disease

Pcld

Congenital Cystic Liver Disease

Congenital Hepatic Cyst

Fibrocystic Liver Disease

Isolated Autosomal Dominant Polycystic Liver Disease

Adpcld

Liver Disease, Polycystic

Multiple Cysts Of Liver

Pld - [Polycystic Liver Disease]

Polycystic Liver Disorder

Polycystic Liver

Congenital Polycystic Disease Of Liver

Congenital Polycystic Liver Disease

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PKD1L1 RGD RGD:1564724
Canis familiaris PKD1L1 VGNC VGNC:44598
Mus musculus PKD1L1 MGD MGI:2156538