ATL1 Gene

Aliases
for ATL1 gene

Previous GC identifers: GC14P050097 GC14P031125

Summaries
for ATL1 gene

Genomic Views
for ATL1 gene

RefSeq DNA sequence:

NC_000014.8  NC_018925.1  NT_026437.12  

SwitchGear Promoter luciferase reporter plasmid: ATL1 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATL1

ATL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P050999:  view genomic region     (about GC identifiers)

Proteins
for ATL1 gene

6/8 PDB 3D structures from and Proteopedia for ATL1 (see all 8):

3Q5D (3D)        3Q5E (3D)        3QNU (3D)        3QOF (3D)        4IDN (3D)        4IDO (3D)    

Explore the universe of human proteins at neXtProt for ATL1: NX_Q8WXF7

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for ATL1
	GenScript Custom Purified and Recombinant Proteins Services for ATL1
	Novus Biologicals ATL1 Protein
	Sino Biological Recombinant Protein for ATL1
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ATL1

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for ATL1
	GenScript Custom Superior Antibodies Services for ATL1
	Novus Biologicals ATL1 Antibodies
	Search for Antibodies for ATL1 at Abcam
	Uscn Antibodies for ATL1
	Search ThermoFisher Antibodies for ATL1

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ATL1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ATL1

Protein Domains /
Families
for ATL1 gene

ProtoNet protein and cluster: Q8WXF7

Function
for ATL1 gene

Enzyme Number (IUBMB): EC 3.6.5.-¹

miRNA Products:		OriGene 3'-UTR Clone (see all 3): ATL1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATL1
		8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate ATL1 (see all 15):
		hsa-miR-520d-5p hsa-miR-7-2* hsa-miR-200a hsa-miR-501-3p hsa-miR-3914 hsa-miR-502-3p hsa-miR-141 hsa-miR-633
		SwitchGear 3'UTR luciferase reporter plasmid: ATL1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATL1 (see all 4) OriGene shRNA RFP: ATL1 OriGene siRNA: ATL1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATL1

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for ATL1

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 ATL1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATL1 (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): ATL1 (NM_015915)
		Sino Biological Human cDNA Clone for ATL1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATL1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATL1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ATL1
		Search LifeMap BioReagents cell lines for ATL1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATL1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

(inferred from 1 allele) (MGI details for Atl1)

Pathways & Interactions
for ATL1 gene

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

Drugs & Compounds
for ATL1 gene

Transcripts
for ATL1 gene

Expression
for ATL1 gene

ATL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGATATTCCA

Stem Cell Differentiation: 1 LifeMap Cell
	Name			Category
	CD31, CD144 positive cells (Two-step protocol fo...)
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATL1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATL1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATL1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATL1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATL1

Orthologs
for ATL1 gene

Paralogs
for ATL1 gene

Paralogs for ATL1 gene

RNF112²  ATL3²  ATL2²  

4 SIMAP similar genes for ATL1 using alignment to 9 protein entries:     ATLA1_HUMAN (see all proteins):

SPG3A    ATL3    ATL2    RNF112

ATL1 for paralogs           About GeneDecksing

Genomic Variants
for ATL1 gene

10/1449 NCBI SNPs in ATL1 are shown (see all 1449)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs350142091,2	C,F,	non-pathogenic	31179996(-)	TTCACT/CGGCTC	6	/P	syn1		8		NA WA EA EU	6313
rs178506841,2	C	non-pathogenic	31180041(+)	GATGAC/GCATTC	6	D E	mis1		2		NA	4
rs178506831,2	C	non-pathogenic	31187694(+)	GCTTTT/GCACTG	6	/C /F	mis1 ese3		1		NA	2
rs356295851,2	C,F,	non-pathogenic	31187737(-)	AATGGC/TTTCAG	6	K	syn1		4		NA CSA WA	4744
rs10601971,2	C,F,H,	non-pathogenic	51057727(+)	TCTGAA/GCGAGA	6	E	syn1 ese3		44		MN NA NS EA WA CSA EU	9653
rs1194760511,2	C	pathogenic	31183703(+)	AACTTG/TGAGAG	6	W L	mis1		0	--	--	--	--
rs1194760461,2	C	pathogenic	31205462(+)	AAAAAC/TGCCTC	6	R C	mis1		0	--	--	--	--
rs1194760481,2	C	pathogenic	31206541(+)	CATCCA/GTTCCT	6	H R	mis1		0	--	--	--	--
rs1194760501,2	C	pathogenic	31220269(+)	TTAGCC/TGGCGT	6	R W	mis1		0	--	--	--	--
rs732898581,2	C,	--	31126653(+)	TCAACC/TTAGAG	1	--	int1		2		WA	120

HapMap Linkage Disequilibrium report for ATL1 (50999227 - 51099786 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for ATL1: --
Human Gene Mutation Database (HGMD): ATL1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATL1

DNA2.0 Custom Variant and Variant Library Synthesis for ATL1

Disorders / Diseases
for ATL1 gene

20/32 diseases for ATL1

4 Novoseek disease relationships for ATL1 gene    About this table

Publications
for ATL1 gene

PubMed articles for ATL1 gene, integrated from 9 sources (see all 100): (articles sorted by number of sources associating them with ATL1)

Utopia: connect your pdf to the dynamic world of online information

1. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. (PubMed id 16533974)^{1, 2, 9} Rainier S....Fink J.K. (2006)
2. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. (PubMed id 14695538)^{1, 2, 9} Sauter S.M.... Neesen J. (2004)
3. Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. (PubMed id 17321752)^{1, 2, 9} Namekawa M.... Ruberg M. (2007)
4. Characterization of a novel SPG3A deletion in a French-Canadian family. (PubMed id 17427918)^{1, 2, 9} Meijer I.A....Rouleau G.A. (2007)
5. Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. (PubMed id 16815977)^{1, 2, 9} Evans K.J.... Lauring B.P. (2006)
6. Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. (PubMed id 12939451)^{1, 2, 9} Dalpozzo F....Martinuzzi A. (2003)
7. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. (PubMed id 11685207)^{1, 2, 9} Zhao X.... Fink J.K. (2001)
8. Targeted high-throughput sequencing identifies mutati ons in atlastin-1 as a cause of hereditary sensory neuropathy type I. (PubMed id 21194679)^{1, 2} Guelly C....Auer-Grumbach M. (2011)
9. Hereditary spastic paraplegia proteins REEP1, spastin , and atlastin-1 coordinate microtubule interactions with the tubular ER networ k. (PubMed id 20200447)^{1, 2} Park S.H....Blackstone C. (2010)
10. Mutational spectrum of the SPG4 (SPAST) and SPG3A (AT L1) genes in Spanish patients with hereditary spastic paraplegia. (PubMed id 20932283)^{1, 2} Alvarez V....Coto E. (2010)

External Searches for ATL1 gene

Genome Databases showing ATL1 gene

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Products
for ATL1 gene