Description: Homo sapiens adaptor-related protein complex 5, zeta 1 subunit (AP5Z1), mRNA. RefSeq Summary (NM_014855): 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]. Transcript (Including UTRs) Position: hg19 chr7:4,815,262-4,834,026 Size: 18,765 Total Exon Count: 17 Strand: + Coding Region Position: hg19 chr7:4,815,347-4,831,016 Size: 15,670 Coding Exon Count: 17
ID:AP5Z1_HUMAN DESCRIPTION: RecName: Full=AP-5 complex subunit zeta-1; AltName: Full=Adapter-related protein complex 5 zeta subunit; Short=Zeta5; FUNCTION: As part of AP-5, a probable fifth adapter 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. SUBUNIT: Probably part of the adapter protein complex 5 (AP-5) a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts with ZFYVE26 and SPG11. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=By SDS-PAGE, 2 isoforms have been observed, the shorter seems to be predominantly nuclear and the longer is mostly cytoplasmic (PubMed:20613862). DISEASE: Defects in AP5Z1 are the cause of spastic paraplegia autosomal recessive type 48 (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. SEQUENCE CAUTION: Sequence=BAA24845.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43299
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000724 double-strand break repair via homologous recombination GO:0006281 DNA repair GO:0006974 cellular response to DNA damage stimulus GO:0015031 protein transport GO:0016197 endosomal transport
US Server
