AP5S1 Gene
protein-coding GIFtS: 39
GCID: GC20P003804
|
|
adaptor-related protein complex 5, sigma 1 subunit(Previous name: chromosome 20 open reading frame 29 )
(Previous symbol: C20orf29)
| |
Aliases
for AP5S1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Adaptor-Related Protein Complex 5, Sigma 1 Subunit1 2 | | AP-5 Complex Subunit Sigma-12 | | C20orf291 2 3 | | Protein C20orf292 | | Adapter-Related Protein Complex 5 Sigma Subunit2 3 | | Sigma53 | | FLJ111681 | | Sigma53 | | Chromosome 20 Open Reading Frame 291 | | |
Export aliases for AP5S1 gene to outside databases |
Summaries
for AP5S1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: AP5S1_HUMAN, Q9NUS5Function: As part of AP-5, a probable fifth adapter protein complex it may be involved in endosomal transport.According to PubMed:20613862, it is required for efficient homologous recombination DNA double-strand break repair
|
Genomic Views
for AP5S1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000020.10 NC_018931.1 NT_011387.8
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for AP5S1
Other transcription factors
Search SABiosciences Chromatin IP Primers for AP5S1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AP5S1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 20p13 Ensembl cytogenetic band: 20p13 HGNC cytogenetic band: 20p13AP5S1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20P003804: view genomic region
(about GC identifiers)
Start:
|
3,801,178 bp from pter |
End:
|
3,805,954 bp from pter |
Size:
|
4,777 bases |
Orientation:
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plus strand |
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Proteins
for AP5S1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AP5S1_HUMAN, Q9NUS5 (See
protein sequence)Recommended Name: AP-5 complex subunit sigma-1 Size: 200 amino acids; 22522 Da
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, cytosol. Late endosome membrane; Peripheral membrane protein; Cytoplasmic side(Probable). Lysosome membrane; Peripheral membrane protein; Cytoplasmic side (Probable)
Secondary accessions: B3KSD0 D3DVY7Explore the universe of human proteins at neXtProt for AP5S1: NX_Q9NUS5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NUS5
AP5S1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001191375.1 NP_001191376.1 NP_060817.1
ENSEMBL proteins: ENSP00000368892 ENSP00000368886 ENSP00000405487 ENSP00000246041
Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
AP5S1 for ontologies About GeneDecksing
AP5S1 Antibody Products:
Assay Products for AP5S1: |
Protein
Domains /
Families
for AP5S1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9NUS5 |
Function
for AP5S1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AP5S1_HUMAN, Q9NUS5Function: As part of AP-5, a probable fifth adapter protein complex it may be involved in endosomal transport.According to PubMed:20613862, it is required for efficient homologous recombination DNA double-strand break repair
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AP5S1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AP5S1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP5S1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
IPI | -- |
AP5S1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for AP5S1:
|
Pathways & Interactions
for AP5S1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP5S1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/31 Interacting proteins for AP5S1 (ENSP000002460414) via UniProtKB, MINT, STRING, and/or I2D (see all 31)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000724 | double-strand break repair via homologous recombination |
IMP | -- | | GO:0015031 | protein transport |
IEA | -- | | GO:0016197 | endosomal transport |
IMP | -- |
AP5S1 for ontologies About GeneDecksing
|
Drugs & Compounds
for AP5S1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for AP5S1
Search CenterWatch for drugs/clinical trials and news about AP5S1
|
Transcripts
for AP5S1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for AP5S1 gene (3 alternative transcripts): NM_001204446.1 NM_001204447.1 NM_018347.2 Unigene Cluster for AP5S1: Adaptor-related protein complex 5, sigma 1 subunit Hs.104806 [show with all ESTs]Unigene Representative Sequence: NM_0012044464 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000379573(uc002wjt.3 uc002wju.2 uc002wjs.2 uc021wab.1)
ENST00000379567 ENST00000455742 ENST00000246041
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AP5S1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AP5S1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for AP5S1 | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AP5S1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP5S1 |
Additional cDNA sequence: AK002030.1 AK093332.1 BC011985.1 BC043344.1 4 DOTS entries: DT.40275034 DT.92421454 DT.40129831 DT.92065030 24/474 AceView cDNA sequences (see all 474): CD051129 BE676194 BM819947 BE383102 AW295078 NM_021873 BQ962034 BU185973 AA448659 BQ962413 BF512205 NM_021874 NM_212530 BG109206 CD514332 CD671180 CR591656 BM992633 BQ961938 CR610495 NM_018347 BQ671363 BM793120 BQ016223
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for AP5S1 (see all 6) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e |
|---|
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| SP1: | | | | | | | - | | - | | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | - | | - | | | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | | | - | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | - | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for AP5S1
|
Expression
for AP5S1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AP5S1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGAATCACTT
About this image
See AP5S1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AP5S1
SOURCE GeneReport for Unigene cluster: Hs.104806
SABiosciences Custom PCR Arrays for AP5S1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AP5S1
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat AP5S1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP5S1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP5S1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP5S1 |
Orthologs
for AP5S1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for AP5S1 gene from 2/9 species (see all 9) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Ap5s11 , 5 |
RIKEN cDNA 2310035K24 gene5
adaptor-related protein 5 complex, sigma 1 subunit1 |
82.58(n)1
85.16(a)1 |
|
2 (63.29 cM)5
695961 NM_027129.21 NP_081405.21
1312070785 |
zebrafish
(Danio rerio) |
Actinopterygii |
BM529858.12 |
-- |
72.38(n) |
|
BM529858.1 |
ENSEMBL Gene Tree for AP5S1 (if available)
TreeFam Gene Tree for AP5S1 (if available) |
Paralogs
for AP5S1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for AP5S1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 20 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AP5S1 (3801178 - 3805954 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AP5S1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AP5S1 |
|
Disorders
/ Diseases
for AP5S1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AP5S1 for disorders About GeneDecksing
OMIM gene information: 614824
OMIM disorders: --
4  diseases for AP5S1: About MalaCardshereditary spastic paraplegia spastic paraplegia paraplegia spasticity
Export disorders for AP5S1 gene to outside databases
|
Publications
for AP5S1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for AP5S1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with AP5S1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The fifth adaptor protein complex. (PubMed id 22022230)1, 2, 3 Hirst J.... Robinson M.S. (2011)
- The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2, 3 Deloukas P....Rogers J. (2001)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- A genome-scale DNA repair RNAi screen identifies SPG4 8 as a novel gene associated with hereditary spastic paraplegia. (PubMed id 20613862)2 SA8abicki M....Buchholz F. (2010)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for AP5S1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing AP5S1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AP5S1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AP5S1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for AP5S1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for AP5S1 gene:
Search GeneIP for patents involving AP5S1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for AP5S1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AP5S1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AP5S1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AP5S1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AP5S1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP5S1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP5S1 |
| |
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| |  |  |  |  | | | | |
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 | | | AP5S1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP5S1 |
|  |  |  | | | | Search ThermoFisher Antibodies for AP5S1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP5S1 |
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