stub1 STIP1 homology and U-Box containing protein 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: stub1provided by ZNC
Official Full Name: STIP1 homology and U-Box containing protein 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-2963
See related: Ensembl:ENSDARG00000045228 AllianceGenome:ZFIN:ZDB-GENE-030131-2963
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:56076; wu:fc22f04
Summary: Predicted to enable protein-folding chaperone binding activity and ubiquitin protein ligase activity. Acts upstream of or within cerebellar Purkinje cell layer structural organization. Predicted to be active in Z disc. Is expressed in several structures, including brain; digestive system; endocrine system; heart; and integument. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 16 and cerebellar ataxia type 48. Orthologous to human STUB1 (STIP1 homology and U-box containing protein 1). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 24

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	24	NC_007135.7 (39656810..39668185)
105	previous assembly	GRCz10 (GCF_000002035.5)	24	NC_007135.6 (39768945..39780338)

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
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?

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
Title: TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ubiquitin-protein transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cerebellar Purkinje cell layer structural organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein ubiquitination	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase CHIP

Names: CHIP

NP_955968.2

EC 2.3.2.27

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_199674.2 → NP_955968.2 E3 ubiquitin-protein ligase CHIP

Status: VALIDATED

Source sequence(s)

CT573356, EH457730

UniProtKB/TrEMBL

A0A8M1PBP9, B2GQ87, F1Q8K3, F6NGW2, Q7ZTZ6

Related

ENSDARP00000118937.1, ENSDART00000145075.3

Conserved Domains (4) summary

pfam04564
Location:211 → 283

U-box; U-box domain

sd00006
Location:14 → 42

TPR; TPR repeat [structural motif]

pfam00515
Location:48 → 78

TPR_1; Tetratricopeptide repeat

pfam13414
Location:13 → 78

TPR_11; TPR repeat