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Aliases for AP5Z1 Gene

Aliases for AP5Z1 Gene

  • Adaptor-Related Protein Complex 5, Zeta 1 Subunit 2 3
  • KIAA0415 2 3 4 6
  • SPG48 3 4 6
  • Adaptor-Related Protein Complex 5 Zeta Subunit 3 4
  • Zeta5 3 4
  • Adapter-Related Protein Complex 5 Zeta Subunit 3
  • AP-5 Complex Subunit Zeta-1 3
  • ZETA 3

External Ids for AP5Z1 Gene

Previous Symbols for AP5Z1 Gene

  • KIAA0415

Summaries for AP5Z1 Gene

Entrez Gene Summary for AP5Z1 Gene

  • This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]

GeneCards Summary for AP5Z1 Gene

AP5Z1 (Adaptor-Related Protein Complex 5, Zeta 1 Subunit) is a Protein Coding gene. Diseases associated with AP5Z1 include spastic paraplegia 48, autosomal recessive and spastic paraplegia 48.

UniProtKB/Swiss-Prot for AP5Z1 Gene

  • As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP5Z1 Gene

Genomics for AP5Z1 Gene

Genomic Location for AP5Z1 Gene

Start:
4,737,388 bp from pter
End:
4,794,395 bp from pter
Size:
57,008 bases
Orientation:
Plus strand

Genomic View for AP5Z1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AP5Z1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP5Z1 Gene

No data available for Regulatory Elements for AP5Z1 Gene

Proteins for AP5Z1 Gene

  • Protein details for AP5Z1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43299-AP5Z1_HUMAN
    Recommended name:
    AP-5 complex subunit zeta-1
    Protein Accession:
    O43299
    Secondary Accessions:
    • Q8N3X2
    • Q96H80

    Protein attributes for AP5Z1 Gene

    Size:
    807 amino acids
    Molecular mass:
    88605 Da
    Quaternary structure:
    • Probably part of the adaptor protein complex 5 (AP-5) a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts with ZFYVE26 and SPG11.
    SequenceCaution:
    • Sequence=BAA24845.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for AP5Z1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP5Z1 Gene

Proteomics data for AP5Z1 Gene at MOPED

Post-translational modifications for AP5Z1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys30 and Lys178

Other Protein References for AP5Z1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AP5Z1 Gene

Domains for AP5Z1 Gene

Protein Domains for AP5Z1 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with AP5Z1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for AP5Z1 Gene

Function for AP5Z1 Gene

Molecular function for AP5Z1 Gene

UniProtKB/Swiss-Prot Function: As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair.

Gene Ontology (GO) - Molecular Function for AP5Z1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 sequence-specific DNA binding transcription factor activity --
GO:0005515 protein binding IPI 20613862
GO:0043565 sequence-specific DNA binding --
genes like me logo Genes that share ontologies with AP5Z1: view

Phenotypes for AP5Z1 Gene

GenomeRNAi human phenotypes for AP5Z1:
genes like me logo Genes that share phenotypes with AP5Z1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for AP5Z1 Gene

Localization for AP5Z1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP5Z1 Gene

Cytoplasm. Nucleus. Note=By SDS-PAGE, 2 isoforms have been observed, the shorter seems to be predominantly nuclear and the longer is mostly cytoplasmic. {ECO:0000269 PubMed:20613862}.

Gene Ontology (GO) - Cellular Components for AP5Z1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20613862
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 20613862
GO:0030119 AP-type membrane coat adaptor complex NAS 22022230
GO:0044599 AP-5 adaptor complex IEA --
genes like me logo Genes that share ontologies with AP5Z1: view

Pathways for AP5Z1 Gene

SuperPathways for AP5Z1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AP5Z1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IMP 20613862
GO:0006355 regulation of transcription, DNA-templated --
GO:0008219 cell death --
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport IMP 22022230
genes like me logo Genes that share ontologies with AP5Z1: view

No data available for Pathways by source for AP5Z1 Gene

Transcripts for AP5Z1 Gene

Unigene Clusters for AP5Z1 Gene

Adaptor-related protein complex 5, zeta 1 subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AP5Z1 Gene

No ASD Table

Relevant External Links for AP5Z1 Gene

GeneLoc Exon Structure for
AP5Z1
ECgene alternative splicing isoforms for
AP5Z1

Expression for AP5Z1 Gene

mRNA expression in normal human tissues for AP5Z1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AP5Z1 Gene

SOURCE GeneReport for Unigene cluster for AP5Z1 Gene Hs.558440

genes like me logo Genes that share expressions with AP5Z1: view

Orthologs for AP5Z1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP5Z1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP5Z1 36
  • 99.09 (n)
  • 99.13 (a)
AP5Z1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA0415 36
  • 79.52 (n)
  • 75.22 (a)
KIAA0415 37
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP5Z1 36
  • 81.41 (n)
  • 79.18 (a)
AP5Z1 37
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap5z1 36
  • 79.65 (n)
  • 78.78 (a)
Ap5z1 16
Ap5z1 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP5Z1 37
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 70 (a)
OneToMany
-- 37
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ap5z1 36
  • 79.45 (n)
  • 78.54 (a)
chicken
(Gallus gallus)
Aves AP5Z1 36
  • 65.55 (n)
  • 58.74 (a)
AP5Z1 37
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP5Z1 37
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497560 36
  • 61.93 (n)
  • 52.45 (a)
zebrafish
(Danio rerio)
Actinopterygii ap5z1 37
  • 53 (a)
OneToOne
LOC100537934 36
  • 59.93 (n)
  • 53.66 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G15160 36
  • 38.57 (n)
  • 29.05 (a)
rice
(Oryza sativa)
Liliopsida Os04g0626900 36
  • 39.35 (n)
  • 28.7 (a)
Species with no ortholog for AP5Z1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AP5Z1 Gene

ENSEMBL:
Gene Tree for AP5Z1 (if available)
TreeFam:
Gene Tree for AP5Z1 (if available)

Paralogs for AP5Z1 Gene

Selected SIMAP similar genes for AP5Z1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with AP5Z1: view

No data available for Paralogs for AP5Z1 Gene

Variants for AP5Z1 Gene

Sequence variations from dbSNP and Humsavar for AP5Z1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs365671 -- 4,782,897(+) CTGAC(A/G)GCCCT intron-variant
rs419710 -- 4,778,991(+) atgcc(A/C)ctgca intron-variant
rs2271479 -- 4,781,609(+) CCTCG(A/G)CCTGC missense, reference, nc-transcript-variant
rs2291491 -- 4,784,011(-) TGCTC(C/T)GCAGG intron-variant
rs2292497 -- 4,785,096(-) AGAGC(A/G)GGTGC intron-variant

Relevant External Links for AP5Z1 Gene

HapMap Linkage Disequilibrium report
AP5Z1
Human Gene Mutation Database (HGMD)
AP5Z1

No data available for Structural Variations from Database of Genomic Variants (DGV) for AP5Z1 Gene

Disorders for AP5Z1 Gene

(1) OMIM Diseases for AP5Z1 Gene (613653)

UniProtKB/Swiss-Prot

AP5Z1_HUMAN
  • Spastic paraplegia 48, autosomal recessive (SPG48) [MIM:613647]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:20613862}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with AP5Z1: view

Publications for AP5Z1 Gene

  1. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. (PMID: 20613862) Slabicki M. … Buchholz F. (PLoS Biol. 2010) 2 3 4
  2. The fifth adaptor protein complex. (PMID: 22022230) Hirst J. … Robinson M.S. (PLoS Biol. 2011) 2 3 4
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  4. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K. … Ohara O. (DNA Res. 1997) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for AP5Z1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate AP5Z1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for AP5Z1
    • Block miRNA regulation of AP5Z1 using miScript Target Protectors

    Sources for AP5Z1 Gene

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