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AP5Z1

GENERAL INFORMATION

Gene name

 AP5Z1

Gene description

 Adaptor-related protein complex 5, zeta 1 subunit

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Nuclear and cytoplasmic expression in all tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA035693
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Breast
N/A
Vagina
N/A
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 AP5Z1 (HGNC Symbol)

Synonyms

 KIAA0415, SPG48, zeta

Description

 Adaptor-related protein complex 5, zeta 1 subunit (HGNC Symbol)

Entrez gene 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]

Chromosome

 7

Cytoband

 p22.1

Chromosome location (bp)

 4775622 - 4794312

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000242802 (version 83.38)

Entrez gene

 9907

UniProt

 O43299 (UniProt - Evidence at protein level)

neXtProt

 NX_O43299

Antibodypedia

 AP5Z1 antibodies

PROTEIN BROWSER
AP5Z1-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AP5Z1-001
ENSP00000297562
ENST00000348624
O43299 [Direct mapping]
AP-5 complex subunit zeta-1
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0015031 [protein transport]
GO:0016197 [endosomal transport]
GO:0030119 [AP-type membrane coat adaptor complex]
GO:0044599 [AP-5 adaptor complex]
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 807 aa
88.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.