Anks6 ankyrin repeat and sterile alpha motif domain containing 6 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Anks6provided by RGD
Official Full Name: ankyrin repeat and sterile alpha motif domain containing 6provided by RGD
Primary source: RGD:3334
See related: Ensembl:ENSRNOG00000023309 AllianceGenome:RGD:3334
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Pkdr1; Samd6
Summary: Enables identical protein binding activity. Predicted to act upstream of or within animal organ development; determination of left/right symmetry; and in utero embryonic development. Located in cytoplasm. Used to study polycystic kidney disease; proteinuria; and uremia. Human ortholog(s) of this gene implicated in nephronophthisis 16. Orthologous to human ANKS6 (ankyrin repeat and sterile alpha motif domain containing 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Kidney (RPKM 54.0), Adrenal (RPKM 25.8) and 8 other tissues See more
Orthologs: human mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 5q22

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	5	NC_086023.1 (66104770..66146186, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	5	NC_051340.1 (61309183..61350596, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	5	NC_005104.4 (62642974..62684387, complement)

Chromosome 5 - NC_086023.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In vivo evidence for a causal link between the novel Anks6((p.R823W)) gene mutation and polycystic kidney disease.
Title: Transgenic overexpression of Anks6(p.R823W) causes polycystic kidney disease in rats.
aberrant expression and mislocalization of R823W SamCystin lead to increased cell proliferation and renal cyst formation
Title: Polycystic kidney disease in Han:SPRD Cy rats is associated with elevated expression and mislocalization of SamCystin.
Bicc1 and SamCystin interact at the protein level suggesting that they function in a common molecular pathway that when perturbed, is involved in cystogenesis.
Title: The polycystic kidney disease-related proteins Bicc1 and SamCystin interact.
Susceptibility to renal cyst formation in the (cy/+) rat is caused by a missense mutation in Pkdr1 encoding the novel protein SamCystin.
Title: Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat.

Submit: New GeneRIF Correction

General gene information

Go to the top of the page Help

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within determination of left/right symmetry	ISO Inferred from Sequence Orthology more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within heart development	ISO Inferred from Sequence Orthology more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within in utero embryonic development	ISO Inferred from Sequence Orthology more info
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within kidney development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in ciliary inversin compartment	IEA Inferred from Electronic Annotation more info
located_in ciliary inversin compartment	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: ankyrin repeat and SAM domain-containing protein 6

Names: SAM domain-containing protein 6; polycystic kidney disease protein 1; samcystin; sterile alpha motif domain-containing protein 6

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001015028.2 → NP_001015028.2 ankyrin repeat and SAM domain-containing protein 6

See identical proteins and their annotated locations for NP_001015028.2

Status: PROVISIONAL

Source sequence(s)

AY661303

UniProtKB/Swiss-Prot

P0C0T2, Q2VWC0, Q5BJL2

UniProtKB/TrEMBL

A0A0G2JSX8

Related

ENSRNOP00000056754.4, ENSRNOT00000060005.5

Conserved Domains (6) summary

cd09518
Location:771 → 835

SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily

smart00454
Location:774 → 833

SAM; Sterile alpha motif

cd00204
Location:63 → 202

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:73 → 165

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:9 → 89

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:69 → 99

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086023.1 Reference GRCr8

Range

66104770..66146186 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063287917.1 → XP_063143987.1 ankyrin repeat and SAM domain-containing protein 6 isoform X1
XM_039110236.1 → XP_038966164.1 ankyrin repeat and SAM domain-containing protein 6 isoform X2

UniProtKB/Swiss-Prot

P0C0T2, Q2VWC0, Q5BJL2

Conserved Domains (4) summary

PHA03095
Location:85 → 396

PHA03095; ankyrin-like protein; Provisional

sd00045
Location:69 → 99

ANK; ANK repeat [structural motif]

pfam12796
Location:13 → 99

Ank_2; Ankyrin repeats (3 copies)

cl15755
Location:771 → 798

SAM_superfamily; SAM (Sterile alpha motif )