anks3 ankyrin repeat and sterile alpha motif domain containing 3 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: anks3provided by ZNC
Official Full Name: ankyrin repeat and sterile alpha motif domain containing 3provided by ZNC
Primary source: ZFIN:ZDB-GENE-080204-51
See related: Ensembl:ENSDARG00000038557 AllianceGenome:ZFIN:ZDB-GENE-080204-51
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:172142
Summary: Predicted to be active in cilium. Is expressed in head; heart; and trunk. Orthologous to human ANKS3 (ankyrin repeat and sterile alpha motif domain containing 3). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 24

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	24	NC_007135.7 (37661140..37680917, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	24	NC_007135.6 (37773243..37793020, complement)

Chromosome 24 - NC_007135.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Consistent with the proposed role of the ANKS3 variant in the pathogenesis of the reported family's phenotype, we show that the mutant RNA failed to rescue the laterality defect in anks3 morphants compared to wild-type RNA. Furthermore, we describe a new mutant anks3 line that also displays laterality defect in the homozygous state
Title: ANKS3 is mutated in a family with autosomal recessive laterality defect.
Thus, developmental defects associated with Anks3 depletion in zebrafish suggest that ANKS3 mutations may cause nephronophthisis (NPH) or NPH-like disease in humans.
Title: Anks3 interacts with nephronophthisis proteins and is required for normal renal development.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ankyrin repeat and SAM domain-containing protein 3

NCBI Reference Sequences (RefSeq)

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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_001114565.1 → NP_001108037.1 ankyrin repeat and SAM domain-containing protein 3

See identical proteins and their annotated locations for NP_001108037.1

Status: PROVISIONAL

Source sequence(s)

BC154552

UniProtKB/TrEMBL

A8WG24

Related

ENSDARP00000123123.1, ENSDART00000131342.2

Conserved Domains (5) summary

cd09519
Location:405 → 468

SAM_ANKS3; SAM domain of ANKS3 subfamily

smart00454
Location:403 → 463

SAM; Sterile alpha motif

cd00204
Location:66 → 192

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:109 → 202

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:72 → 102

ANK; ANK repeat [structural motif]