Ap5z1 adaptor-related protein complex 5, zeta 1 subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ap5z1provided by MGI
Official Full Name: adaptor-related protein complex 5, zeta 1 subunitprovided by MGI
Primary source: MGI:MGI:1924908
See related: Ensembl:ENSMUSG00000039623 AllianceGenome:MGI:1924908
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: C330006K01Rik
Summary: Acts upstream of or within several processes, including late endosome to Golgi transport; lysosomal protein catabolic process; and vacuole organization. Is active in lysosome. Used to study hereditary spastic paraplegia 48. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia and hereditary spastic paraplegia 48. Orthologous to human AP5Z1 (adaptor related protein complex 5 subunit zeta 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 16.1), spleen adult (RPKM 12.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G2; 5 81.53 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (142448960..142464471)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (142463207..142478716)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Spatacsin regulates directionality of lysosome trafficking by promoting the degradation of its partner AP5Z1.
Title: Spatacsin regulates directionality of lysosome trafficking by promoting the degradation of its partner AP5Z1.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axon development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in endosomal transport	ISO Inferred from Sequence Orthology more info
involved_in endosomal transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within late endosome to Golgi transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lysosomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle-mediated transport	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of AP-5 adaptor complex	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in late endosome	NAS Non-traceable Author Statement more info	PubMed
is_active_in lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: AP-5 complex subunit zeta-1

Names: adapter-related protein complex 5 zeta subunit; adaptor-related protein complex 5 zeta subunit; zeta5

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_172725.2 → NP_766313.2 AP-5 complex subunit zeta-1

See identical proteins and their annotated locations for NP_766313.2

Status: VALIDATED

Source sequence(s)

AK152402, BY125380, CAAA01097582

Consensus CDS

CCDS39361.1

UniProtKB/Swiss-Prot

Q3U829, Q3UJJ0, Q63ZW8, Q8BS06, Q8C488

UniProtKB/TrEMBL

A0A0G2JFH9

Related

ENSMUSP00000041863.9, ENSMUST00000038699.13

Conserved Domains (1) summary

pfam14764
Location:319 → 437

SPG48; AP-5 complex subunit, vesicle trafficking

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

142448960..142464471

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006504680.5 → XP_006504743.1 AP-5 complex subunit zeta-1 isoform X2

UniProtKB/TrEMBL

B7ZMR5

Conserved Domains (1) summary

pfam14764
Location:257 → 375

SPG48; AP-5 complex subunit, vesicle trafficking
XM_036165100.1 → XP_036020993.1 AP-5 complex subunit zeta-1 isoform X3

Conserved Domains (1) summary

pfam14764
Location:319 → 437

SPG48; AP-5 complex subunit, vesicle trafficking
XM_006504679.3 → XP_006504742.1 AP-5 complex subunit zeta-1 isoform X1

UniProtKB/TrEMBL

A0A0G2JFH9

Conserved Domains (1) summary

pfam14764
Location:317 → 435

SPG48; AP-5 complex subunit, vesicle trafficking
XM_006504681.5 → XP_006504744.1 AP-5 complex subunit zeta-1 isoform X4

Conserved Domains (1) summary

pfam14764
Location:1 → 56

SPG48; AP-5 complex subunit, vesicle trafficking