ATXN7L1 Gene
protein-coding GIFtS: 40
GCID: GC07M105245
|
|
ataxin 7-like 1(Previous name: ataxin 7-like 4 )
(Previous symbol: ATXN7L4)
| |
Aliases
for ATXN7L1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ataxin 7-Like 11 2 | | Ataxin-7-Like Protein 42 3 | | ATXN7L41 2 3 | | MGC331901 | | Ataxin 7-Like 41 2 | | Ataxin-7-Like Protein 12 | | KIAA12181 3 | | |
Export aliases for ATXN7L1 gene to outside databasesPrevious GC identifers: GC07U901498 GC07M104840 GC07M105035 GC07M105189 GC07M099603 |
Summaries
for ATXN7L1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for ATXN7L1 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_000007.13 NC_018918.1 NT_007933.15 NT_079596.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ATXN7L1 gene promoter:
Max1 Elk-1 AML1a STAT5A FOXL1 GATA-1 FOXO4 LHX3a/Lhx3a Msx-1 ATF
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATXN7L1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN7L1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q22.3 Ensembl cytogenetic band: 7q22.3 HGNC cytogenetic band: 7q22.1ATXN7L1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M105245: view genomic region
(about GC identifiers)
Start:
|
105,245,221 bp from pter |
End:
|
105,517,050 bp from pter |
Size:
|
271,830 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 104,605,757-104,877,533 |
|
Proteins
for ATXN7L1 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: AT7L1_HUMAN, Q9ULK2 (See
protein sequence)Recommended Name: Ataxin-7-like protein 1 Size: 861 amino acids; 91514 Da
Sequence caution: Sequence=BAA86532.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAA86532.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in theN-terminal part;
Secondary accessions: B4DTS1 Q8N2T0Alternative splicing: 3 isoforms: Q9ULK2-1 Q9ULK2-2 Q9ULK2-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ATXN7L1: NX_Q9ULK2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9ULK2
ATXN7L1 Protein expression data from MOPED and PaxDb: --
REFSEQ proteins (3 alternative transcripts):
NP_065776.1 NP_612504.1 NP_689962.1
ENSEMBL proteins: ENSP00000410759 ENSP00000418476 ENSP00000418900 ENSP00000420483 ENSP00000419566 ENSP00000326344 ENSP00000418679 ENSP00000373459
Human Recombinant Protein Products:
ATXN7L1 Antibody Products:
Assay Products for ATXN7L1: |
Protein
Domains /
Families
for ATXN7L1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATXN7L1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9ULK2ProtoNet protein and cluster: Q9ULK2 UniProtKB/Swiss-Prot: AT7L1_HUMAN, Q9ULK2Similarity: Contains 1 SCA7 domain |
Function
for ATXN7L1 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
|
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 ATXN7L1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN7L1 (see all 3)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7L1 |
|
Pathways & Interactions
for ATXN7L1 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 ATXN7L1
1 Interacting protein for ATXN7L1 (Q9ULK23) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for ATXN7L1 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 ATXN7L1
Search CenterWatch for drugs/clinical trials and news about ATXN7L1 / AT7L1
|
Transcripts
for ATXN7L1 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 ATXN7L1 gene (3 alternative transcripts): NM_020725.1 NM_138495.1 NM_152749.3 Unigene Cluster for ATXN7L1: Ataxin 7-like 1 Hs.489603 [show with all ESTs]Unigene Representative Sequence: NM_02072512 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000419735(uc003vdf.2 uc003vde.2) ENST00000477775 ENST00000484475(uc003vdg.4)
ENST00000474433(uc003vdh.4) ENST00000472195(uc011klq.1) ENST00000472910(uc011klr.1)
ENST00000485652 ENST00000318724(uc003vdi.2) ENST00000478915 ENST00000481880
ENST00000464874 ENST00000388807
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN7L1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN7L1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): ATXN7L1 (NM_152749) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATXN7L1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN7L1 |
Additional cDNA sequence: AB033044.1 AK027276.1 AK095475.1 AK097574.1 AK300338.1 AK302013.1 BC003517.1 BC030616.2 BC055009.1 13 DOTS entries: DT.107457 DT.100023573 DT.95149430 DT.100781499 DT.40303945 DT.100922 DT.97838144 DT.100717888 DT.40246931 DT.97783931 DT.97829503 DT.100023574 DT.40126869 24/99 AceView cDNA sequences (see all 99): BC030616 NM_152749 AK097574 CB120441 BM474967 AI222572 BC003517 BX446708 BQ436521 AA313620 AI161207 BE269350 AW291737 BX091143 AA694181 AB033044 AA970536 AA812732 BQ431139 AI337560 AK027276 AW027855 CA444070 BM559720
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for ATXN7L1 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b |
|---|
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| SP1: | | | | | | | | | | | - | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | - | | | | - | | | | | |
ECgene alternative splicing isoforms for ATXN7L1
|
Expression
for ATXN7L1 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
| ATXN7L1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
Genevestigator expression for ATXN7L1
SOURCE GeneReport for Unigene cluster: Hs.489603
SABiosciences Custom PCR Arrays for ATXN7L1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATXN7L1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7L1 |
Orthologs
for ATXN7L1 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 animals.
Orthologs for ATXN7L1 gene from 5/15 species (see all 15) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ATXN7L11 |
ataxin 7-like 1 |
81.6(n)
81.43(a) |
|
427847 XM_425421.3 XP_425421.3 |
lizard
(Anolis carolinensis) |
Reptilia |
ATXN7L16 |
-- |
73(a) |
1 ↔ 1 |
5(96714651-96764583) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.26352 |
Xenopus laevis transcribed sequence with moderate similarity more |
88.31(n) |
|
48050655 |
zebrafish
(Danio rerio) |
Actinopterygii |
CU928083.36 |
-- |
32(a) |
1 ↔ 1 |
4(3304148-3317160) |
honey bee
(Apis mellifera) |
Insecta |
-- |
-- |
21(a) |
1 → many |
Group2.11(691755-696425) |
ENSEMBL Gene Tree for ATXN7L1 (if available)
TreeFam Gene Tree for ATXN7L1 (if available) |
Paralogs
for ATXN7L1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ATXN7L1 gene
- ATXN7L22 ATXN72
5 SIMAP similar genes for ATXN7L1 using alignment to 6 protein entries: AT7L1_HUMAN (see all proteins):KIAA1218 MGC33190 ATXN7 FLJ00381 ATXN7L2
ATXN7L1 for paralogs About GeneDecksing
|
Genomic Variants
for ATXN7L1 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 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ATXN7L1 (105245221 - 105495221 bp, first 250kb of ATXN7L1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ATXN7L1
1 Indel: 62711 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN7L1 |
|
Disorders
/ Diseases
for ATXN7L1 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
| -- |
Publications
for ATXN7L1 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 ATXN7L1 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with ATXN7L1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. (PubMed id 15115762)1, 3 Helmlinger D.... Devys D. (2004)
- 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)
- Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (1999)
- Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene. (PubMed id 22881374)1 Cummings A.C....Haines J.L. (2012)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
- Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1 Scherer S.W.... Tsui L.-C. (2003)
- The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
- Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PubMed id 12421765)1 Nakayama M....Ohara O. (2002)
|
External Searches for ATXN7L1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ATXN7L1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ATXN7L1 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing ATXN7L1 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 ATXN7L1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ATXN7L1 gene:
Search GeneIP for patents involving ATXN7L1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ATXN7L1 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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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATXN7L1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN7L1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN7L1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATXN7L1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN7L1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN7L1 |
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