2. Gene
  3. AP5Z1 - adaptor related protein complex 5 subunit zeta 1 Gene

AP5Z1 - adaptor related protein complex 5 subunit zeta 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as zeta; SPG48; KIAA0415

Gene ID: 9907 | Gene type: protein coding

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
Protein Preferred Names Protein Names

AP-5 complex subunit zeta-1

adapter-related protein complex 5 zeta subunit

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00800 AP5Z1 Human Pre-designed siRNA Set A / 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