AP5Z1 - adaptor related protein complex 5 subunit zeta 1 Gene

Also Known as zeta; SPG48; KIAA0415

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9907

About AP5Z1

Cytogenetic location: 7p22.1 Genomic coordinates (GRCh38): 7:4,775,623-4,794,397 (from NCBI)

This gene has 19 transcripts (splice variants), 207 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in spleen (RPKM 5.9), skin (RPKM 4.3) and 25 other tissues.

Summary

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]

AP5Z1 Products (2)

mRNA	Protein	Name
NM_001364858.1	NP_001351787.1	AP-5 complex subunit zeta-1 isoform 2
NM_014855.3	NP_055670.1	AP-5 complex subunit zeta-1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20613862	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	20613862	GOA
involved in endosomal transport	IMP IMP: Inferred from mutant phenotype	22022230	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	20613862	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20613862	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
AP-5 complex subunit zeta-1	adapter-related protein complex 5 zeta subunit

AP5Z1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AP5Z1	O43299	NUP93	Homo sapiens	Q8N1F7	Y2H Prey Pooling	32296183
Intra	AP5Z1	O43299	NUP93	Homo sapiens	Q8N1F7	Validated Y2H	32296183
Intra	AP5Z1	O43299	NUP93	Homo sapiens	Q8N1F7	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spastic Paraplegia 48, Autosomal Recessive	SPG48 Hereditary Spastic Paraplegia 48 Autosomal Recessive Spastic Paraplegia Type 48 Autosomal Recessive Spastic Paraplegia 48 Paraplegia, Spastic, Type 48, Autosomal Recessive
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Spastic Paraplegia 53, Autosomal Recessive	SPG53 Hereditary Spastic Paraplegia 53 Autosomal Recessive Spastic Paraplegia Type 53 Autosomal Recessive Spastic Paraplegia 53 Paraplegia, Spastic, Type 53, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive	SPG9B Autosomal Recessive Complex Spastic Paraplegia Type 9b Hereditary Spastic Paraplegia 9b Autosomal Recessive Spastic Paraplegia 9b Autosomal Recessive Spastic Paraplegia Type 9b Ar-Spg9b
Spastic Paraplegia 44, Autosomal Recessive	SPG44 Hereditary Spastic Paraplegia 44 Autosomal Recessive Spastic Paraplegia 44 Autosomal Recessive Spastic Paraplegia Type 44 Paraplegia, Spastic, Type 44, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant	SPG42 Hereditary Spastic Paraplegia 42 Autosomal Dominant Spastic Paraplegia Type 42 Autosomal Dominant Spastic Paraplegia 42 Paraplegia, Spastic, Type 42, Autosomal Dominant
Spastic Paraplegia 54, Autosomal Recessive	SPG54 Hereditary Spastic Paraplegia 54 Autosomal Recessive Spastic Paraplegia Type 54 Autosomal Recessive Spastic Paraplegia 54 Paraplegia, Spastic, Type 54, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive	SPG61 Hereditary Spastic Paraplegia 61 Autosomal Recessive Spastic Paraplegia Type 61 Autosomal Recessive Spastic Paraplegia 61 Paraplegia, Spastic, Type 61, Autosomal Recessive
Spastic Paraplegia 9a, Autosomal Dominant	Hereditary Spastic Paraplegia 9a SPG9A Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities Ad-Spg9a Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux Autosomal Dominant Complex Spastic Paraplegia Type 9a Autosomal Dominant Spastic Paraplegia 9a Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux Autosomal Dominant Spastic Paraplegia Type 9a Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux Spastic Paraplegia 9, Autosomal Dominant
Spastic Paraplegia 15, Autosomal Recessive	SPG15 Kjellin Syndrome Hereditary Spastic Paraplegia 15 Spastic Paraplegia And Retinal Degeneration Autosomal Recessive Spastic Paraplegia Type 15 Hereditary Spastic Paraparesis Type 15 Spastic Paraplegia-Retinal Degeneration Syndrome Autosomal Recessive Spastic Paraplegia 15
Masa Syndrome	L1 Syndrome Crash Syndrome X-Linked Hydrocephalus Syndrome SPG1 Gareis-Mason Syndrome Spastic Paraplegia 1, X-Linked Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome L1cam Syndrome Spastic Paraplegia 1 Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs Clasped Thumb And Mental Retardation Thumb, Congenital Clasped, With Mental Retardation Adducted Thumb With Mental Retardation Hereditary Spastic Paraplegia 1 X-Linked Complicated Hereditary Spastic Paraplegia Type 1 X-Linked Corpus Callosum Agenesis X-Linked Spastic Paraplegia 1 L1 Disease X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis Adducted Thumb With Intellectual Disability Clasped Thumb And Intellectual Disability Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs Thumb Congenital Clasped With Intellectual Disability X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome Adducted Thumbs-Mental Retardation Syndrome Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome Mental Retardation-Clasped Thumb Syndrome Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome Spastic Paraplegia Type 1, X-Linked MASA Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus Crash Masa Syndrome
Spastic Paraplegia 18, Autosomal Recessive	SPG18 Idmdc Hereditary Spastic Paraplegia 18 Intellectual Disability, Motor Dysfunction, And Joint Contractures Autosomal Recessive Spastic Paraplegia Type 18 Autosomal Recessive Spastic Paraplegia 18 Intellectual Disability, Motor Dysfunction And Joint Contractures Spastic Paraplegia 18 Intellectual Disability Motor Dysfunction And Joint Contractures Paraplegia, Spastic, Type 18
Hereditary Spastic Paraplegia 30	Autosomal Spastic Paraplegia Type 30 Spg30 Autosomal Recessive Spastic Paraplegia 30
Spastic Paraplegia 78, Autosomal Recessive	SPG78 Autosomal Recessive Spastic Paraplegia Type 78 Hereditary Spastic Paraplegia 78 Spastic Paraplegia 78 Autosomal Recessive Doid:0112348
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Dominant Optic Atrophy Plus Syndrome DOA+ Adoa Autosomal Dominant Optic Atrophy Doa Optic Atrophy Plus Syndrome Dominant Optic Atrophy Optic Atrophy With Or Without Deafness Ophthalmoplegia Myopathy Ataxia And Neuropathy Optic Atrophy, Dominant 3-Methylglutaconic Aciduria Type 3 Optic Atrophy, Autosomal Dominant
Hereditary Spastic Paraplegia 35	Autosomal Recessive Spastic Paraplegia Type 35 Spg35 Autosomal Recessive Spastic Paraplegia 35 Fahn Fatty Acid Hydroxylase-Associated Neurodegeneration Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
Spastic Paraplegia 13, Autosomal Dominant	SPG13 Hereditary Spastic Paraplegia 13 Autosomal Dominant Spastic Paraplegia 13 Spastic Paraplegia 13 Autosomal Dominant Spastic Paraplegia Type 13 Spastic Paraplegia-13 Paraplegia, Spastic, Type 13
Spastic Paraplegia 11, Autosomal Recessive	SPG11 Hereditary Spastic Paraplegia 11 Hsp-Tcc Autosomal Recessive Spastic Paraplegia Type 11 Nakamura-Osame Syndrome Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome Spastic Paraplegia, Autosomal Recessive, With Mental Impairment And Thin Corpus Callosum Spastic Paraplegia, Autosomal Recessive, Complicated, With Thin Corpus Callosum Autosomal Recessive Spastic Paraplegia 11 Autosomal Recessive Spastic Paraplegia Complicated With Thin Corpus Callosum Autosomal Recessive Spastic Paraplegia With Mental Impairment And Thin Corpus Callosum Arhsp-Tcc Autosomal Recessive Spastic Paraplegia With Thinning Of Corpus Callosum Spastic Paraplegia Autosomal Recessive Complicated With Thin Corpus Callosum Spastic Paraplegia Autosomal Recessive With Mental Impairment And Thin Corpus Callosum Paraplegia, Spastic, Autosomal Recessive, Type 11 Nakamura Osame Syndrome
Hereditary Spastic Paraplegia 49	Autosomal Recessive Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia 49 Spg49 Paraplegia, Spastic, Type 49, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive	SPG26 Hereditary Spastic Paraplegia 26 Autosomal Recessive Spastic Paraplegia Type 26 Gm2 Synthase Deficiency Spastic Paraplegia 26 Autosomal Recessive Spastic Paraplegia 26 Paraplegia, Spastic, Autosomal Recessive, Type 26
Spastic Paraplegia 34, X-Linked	SPG34 Hereditary Spastic Paraplegia 34 X-Linked Spastic Paraplegia Type 34 X-Linked Spastic Paraplegia 34
Spastic Paraplegia 2, X-Linked	SPG2 Hereditary Spastic Paraplegia 2 Sppx2 Spastic Paraplegia Type 2 Spastic Paraplegia 2 Hereditary X-Linked Recessive Spastic Paraplegia X-Linked Spastic Paraplegia 2 X Linked Recessive Hereditary Spastic Paraplegia Spastic Gait Type 2 Spastic Paraparesis Type 2 X-Linked Spastic Paraplegia Type 2 Spastic Paraplegia Type 2, X-Linked Spastic Paraplegia-2 Paraplegia, Spastic, Type 2
Spastic Paraplegia 10, Autosomal Dominant	SPG10 Hereditary Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Type 10 Spastic Paraplegia 10 Spastic Paraplegia 10 With Or Without Peripheral Neuropathy Autosomal Dominant Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant Paraplegia, Spastic, Autosomal Dominant, Type 10
Spastic Paraplegia 17, Autosomal Dominant	Silver Syndrome SPG17 Silver Spastic Paraplegia Syndrome Spastic Paraplegia With Amyotrophy Of Hands And Feet Hereditary Spastic Paraplegia 17 Autosomal Dominant Spastic Paraplegia Type 17 Spastic Paraplegia 17 Spastic Paraplegia-Amyotrophy Of Hands And Feet Autosomal Dominant Spastic Paraplegia 17 Dhmn5b Distal Hereditary Motor Neuropathy Type 5b Paraplegia, Spastic, Autosomal Dominant, Type 17 Russell-Silver Syndrome Neuronopathy, Distal Hereditary Motor, Type Vb
Spastic Ataxia	Spax Ataxia, Spastic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00800	AP5Z1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AP5Z1	VGNC	VGNC:69883
Mus musculus	AP5Z1	MGD	MGI:1924908
Bos taurus	AP5Z1	VGNC	VGNC:25998
Felis catus	AP5Z1	VGNC	VGNC:59843
Rattus norvegicus	AP5Z1	RGD	RGD:1593125
Canis familiaris	AP5Z1	VGNC	VGNC:37973
Others	AP5Z1	NCBI