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

Also Known as HTX8; PRO19563

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 168507

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)

  • 0
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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