Afg2b AFG2 AAA ATPase homolog B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Afg2bprovided by MGI
Official Full Name: AFG2 AAA ATPase homolog Bprovided by MGI
Primary source: MGI:MGI:3036261
See related: Ensembl:ENSMUSG00000118663 AllianceGenome:MGI:3036261
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Spata5l1; C130039A10Rik
Summary: Predicted to enable preribosome binding activity. Predicted to be involved in ribosomal large subunit biogenesis. Predicted to be located in cytoplasm and spindle. Is expressed in placenta. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness. Orthologous to human AFG2B (AFG2 AAA ATPase homolog B). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in adrenal adult (RPKM 25.9), ovary adult (RPKM 25.2) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E5; 2 60.64 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (122461112..122474933)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (122630625..122636478)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)

General gene information

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Markers

AV141009 (e-PCR), detects polymorphism
- UniSTS:462681

PMC153605P1 (e-PCR)
- UniSTS:271262

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular_function	ND No biological Data available more info
enables polyubiquitin modification-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables preribosome binding	ISO Inferred from Sequence Orthology more info
enables preribosome binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in autophagosome maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in biological_process	ND No biological Data available more info
involved_in mitotic spindle disassembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde protein transport, ER to cytosol	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosomal large subunit biogenesis	ISO Inferred from Sequence Orthology more info
involved_in ribosomal large subunit biogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of VCP-NPL4-UFD1 AAA ATPase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in spindle	IEA Inferred from Electronic Annotation more info
located_in spindle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ATPase family gene 2 protein homolog B

Names: ribosome biogenesis protein SPATA5L1; spermatogenesis associated 5-like 1; spermatogenesis-associated protein 5-like protein 1

NP_001028428.2

EC 3.6.4.10

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_001033256.5 → NP_001028428.2 ATPase family gene 2 protein homolog B

Status: VALIDATED

Source sequence(s)

AEKR01077154, AL772253

UniProtKB/Swiss-Prot

A0A7N9VSG0

Related

ENSMUSP00000159384.2, ENSMUST00000239506.1

Conserved Domains (2) summary

TIGR01243
Location:14 → 738

CDC48; AAA family ATPase, CDC48 subfamily

pfam00004
Location:230 → 362

AAA; ATPase family associated with various cellular activities (AAA)