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ATL1 Gene

protein-coding GIFtS: 56
GCID: GC14P050999

Atlastin GTPase 1

(Previous name: spastic paraplegia 3A (autosomal dominant))
(Previous symbols: SPG3, SPG3A)

See ATL1-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Atlastin GTPase 1¹ ²		HSN1D² ⁵
SPG3A¹ ² ³ ⁵		atlastin¹
SPG3¹ ²		Spastic Paraplegia 3A (Autosomal Dominant)¹
Brain-Specific GTP-Binding Protein² ³		AD-FSP²
Guanine Nucleotide-Binding Protein 3² ³		FSP1²
Spastic Paraplegia 3 Protein A² ³		atlastin-1²
GBP-3² ³		atlastin1²
GBP3² ³		Guanylate-Binding Protein 3²
GTP-Binding Protein 3² ³		EC 3.6.5.-³
hGBP3² ³

External Ids:	HGNC: 11231¹	Entrez Gene: 51062²	Ensembl: ENSG00000198513⁷	OMIM: 606439⁵	UniProtKB: Q8WXF7³

ORGUL members:

Export aliases for ATL1 gene to outside databases

Previous GC identifers: GC14P050097 GC14P031125

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATL1 Gene:

The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form

a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase

kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this

gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have

been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATL1 Gene:

ATL1 (atlastin GTPase 1) is a protein-coding gene. Diseases associated with ATL1 include spastic paraplegia 3, and spastic paraplegia 3a. GO annotations related to this gene include GTPase activity and identical protein binding. An important paralog of this gene is RNF112.

UniProtKB/Swiss-Prot: ATLA1_HUMAN, Q8WXF7

Function: GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of

endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate

Golgi biogenesis. May regulate axonal development

Gene Wiki entry for ATL1 (Atlastin) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000014.8 NC_018925.2 NT_026437.13

Regulatory elements:

Regulatory transcription factor binding sites in the ATL1 gene promoter:
Bach1 AP-1 Bach2 HTF MyoD CP2 HFH-1 FOXO1a FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATL1 promoter sequence

Search Chromatin IP Primers for ATL1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATL1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q22.1 Ensembl cytogenetic band: 14q22.1 HGNC cytogenetic band: 14q21.3

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

GeneLoc information about chromosome 14 GeneLoc Exon Structure

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

Start:	50,999,227 bp from pter	End:	51,099,786 bp from pter
Size:	100,560 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ATLA1_HUMAN, Q8WXF7 (See protein sequence)

Recommended Name: Atlastin-1

Size: 558 amino acids; 63544 Da

Subunit: Monomer as apoprotein and in the GDP-bound form. Homodimer in the GTP-bound form. Interacts (via

N-terminal region) with MAP4K4 (via CNH regulatory domain). Interacts with REEP5, RTN3 and RTN4 (via the

transmembrane region). Interacts with SPAST; interaction is direct. May interact with TMED2. Interacts with REEP1

Sequence caution: Sequence=AAD20047.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=AAK51160.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

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

3Q5D (3D)

3Q5E (3D)

3QNU (3D)

3QOF (3D)

4IDN (3D)

4IDO (3D)

Secondary accessions: A6NND5 A8K2C0 G5E9T1 O95890 Q69YH7 Q96FK0

Alternative splicing: 2 isoforms: Q8WXF7-1 Q8WXF7-2 (No experimental confirmation available)

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

Explore proteomics data for ATL1 at MOPED

Post-translational modifications:

Ubiquitination² at Lys334

Modification sites at PhosphoSitePlus

See ATL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts):

NP_001121185.1 NP_056999.2 NP_853629.2

ENSEMBL proteins:

ENSP00000413675 ENSP00000452506 ENSP00000450989 ENSP00000351155 ENSP00000452074

ENSP00000451015 ENSP00000450897 ENSP00000451100 ENSP00000349534 ENSP00000346522

ATL1 Human Recombinant Protein Products:

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	antibodies-online proteins for ATL1 (2 products)
	antibodies-online peptides for ATL1

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	antibodies-online antibodies for ATL1 (34 products)

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:

IPR015894 Guanylate-bd_N

IPR027417 P-loop_NTPase

IPR003191 Guanylate-bd_C

Graphical View of Domain Structure for InterPro Entry Q8WXF7

ProtoNet protein and cluster: Q8WXF7

UniProtKB/Swiss-Prot: ATLA1_HUMAN, Q8WXF7

Similarity: Belongs to the GBP family. Atlastin subfamily

Find genes that share domains with ATL1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: ATLA1_HUMAN, Q8WXF7

Function: GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of

endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate

Golgi biogenesis. May regulate axonal development

Enzyme Number (IUBMB): EC 3.6.5.-¹

Gene Ontology (GO): 4 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003924	GTPase activity	IDA	14506257
GO:0005515	protein binding	IPI	16815977
GO:0005525	GTP binding	ISS	--
GO:0042802	identical protein binding	IPI	--

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Phenotypes:
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Atl1):

behavior/neurological

limbs/digits/tail

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Animal Models:
MGI mouse knock-out Atl1^tm1Jfnk for ATL1

genOway: Develop your customized and physiologically relevant rodent model for ATL1

miRNA Products:		miRTarBase miRNAs that target ATL1: hsa-let-7f-5p (MIRT051409), hsa-mir-335-5p (MIRT018361), hsa-mir-9-5p (MIRT021430)

		Block miRNA regulation of human, mouse, rat ATL1 using miScript Target Protectors
		Selected qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for ATL1
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Gene Editing
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		GenScript: all cDNA clones in your preferred vector (see all 3): ATL1 (NM_015915)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATL1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

ATLA1_HUMAN, Q8WXF7: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane;

Multi-pass membrane protein. Cell projection, axon (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
endoplasmic reticulum	5
golgi apparatus	5
cytoskeleton	1
cytosol	1
mitochondrion	1
nucleus	1
peroxisome	1

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Gene Ontology (GO): Selected cellular component terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000137	Golgi cis cisterna	ISS	--
GO:0000139	Golgi membrane	IEA	--
GO:0005783	endoplasmic reticulum	IDA	19665976
GO:0005789	endoplasmic reticulum membrane	ISS	--
GO:0005794	Golgi apparatus	ISS	--

Find genes that share ontologies with ATL1 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for ATL1 About

See pathways by source

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by

SuperPath

Contained pathways About

Cytoskeletal Signaling

Cytoskeletal Signaling

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Pathways by source See SuperPaths
Show all pathways

1 Cell Signaling Technology (CST) Pathway for ATL1

Cytoskeletal Signaling

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for ATL1
Interactions:

Search GeneGlobe Interaction Network for ATL1

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

Selected Interacting proteins for ATL1 (Q8WXF7¹ ENSP00000351155⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RTN4	ENSP00000337838⁴	STRING: ENSP00000337838
TMED2	ENSP00000262225⁴	STRING: ENSP00000262225
TMED9	ENSP00000330945⁴	STRING: ENSP00000330945
ARRDC3	ENSP00000265138⁴	STRING: ENSP00000265138
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

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Gene Ontology (GO): 5 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006184	GTP catabolic process	IDA	14506257
GO:0007029	endoplasmic reticulum organization	IDA	19665976
GO:0007409	axonogenesis	ISS	--
GO:0008219	cell death	IEA	--
GO:0051260	protein homooligomerization	IDA	14506257

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for ATL1 (ATLA1)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for ATL1 gene (3 alternative transcripts):

NM_001127713.1 NM_015915.4 NM_181598.3

Unigene Cluster for ATL1:

Atlastin GTPase 1

Hs.584905 [show with all ESTs]

Unigene Representative Sequence: NM_001127713

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000556478 ENST00000441560(uc001wyd.4) ENST00000555960 ENST00000553509

ENST00000358385(uc001wyf.4 uc001wye.4 uc021rsw.1 uc021rsx.1)

ENST00000554886 ENST00000557735 ENST00000553746 ENST00000555266 ENST00000556067

ENST00000357032 ENST00000354525

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		Selected qRT-PCR 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

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		GenScript: all cDNA clones in your preferred vector (see all 3): ATL1 (NM_015915)
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Additional mRNA sequence:

AF131801.1 AF444143.1 AK125161.1 AK223436.1 AK290185.1 AK312518.1 AL833591.1 AY032844.1

BC010708.2 CR457153.1

15 DOTS entries:

DT.441169 DT.100794720 DT.100665255 DT.95261977 DT.95291648 DT.91724995 DT.91724997 DT.101965377

DT.100794710 DT.120765658 DT.99964716 DT.120765550 DT.120765631 DT.91724992 DT.120765519

Selected AceView cDNA sequences (see all 156):

AF131801 AI969318 NM_181598 BQ446187 CR599776 AA704912 BX280776 AI800525

CA748825 BM710820 AA338476 BU625618 AA194727 AW450282 AL833591 BU742971

AW674605 AI879690 BM728950 AA772999 AW157688 BU783809 BF980279 BP360105

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATL1 (see all 6) About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	·	3d	·	3e	^	4	^	5a	·	5b	^	6a	·	6b	·	6c	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12	^	13	^	14
SP1:													-																-
SP2:													-										-		-				-
SP3:			-		-								-
SP4:					-								-
SP5:

ECgene alternative splicing isoforms for ATL1

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ATL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGATATTCCA

About this image

ATL1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 5) fully expand


NULL (Uncategorized) fully expand to see all 2 entries
Mesenchyme-like progenitor cells

Mesenchymal Stem Cells (Uncategorized)
Mesenchymal stem cells

Fibroblasts
Detroit 551

Epidermis (Integumentary System)
Detroit 551

Neural Tube (Nervous System)
Telencephalon

ATL1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

ATL1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.584905

UniProtKB/Swiss-Prot: ATLA1_HUMAN, Q8WXF7

Tissue specificity: Expressed predominantly in the adult and fetal central nervous system. Measurable expression

in all tissues examined, although expression in adult brain is at least 50-fold higher than in other tissues.

Detected predominantly in pyramidal neurons in the cerebral cortex and the hippocampus of the brain. Expressed in

upper and lower motor neurons (at protein level)

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In Situ
Assay Products:

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(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)
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This gene was present in the common ancestor of animals.

Orthologs for ATL1 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Atl1^{1 , 5}	atlastin GTPase 1^{1, 5}	90.74(n)¹ 96.59(a)¹		12 (28.94 cM)⁵ 73991¹ NM_178628.5¹ NP_848743.1¹ 69893105⁵
chicken (Gallus gallus)	Aves	ATL1¹	atlastin GTPase 1	80.98(n) 92.39(a)		423577 XM_421466.4 XP_421466.4
lizard (Anolis carolinensis)	Reptilia	ATL1⁶	atlastin GTPase 1	92(a)	1 ↔ 1	AAWZ02036468(1901-24750)
tropical clawed frog (Xenopus tropicalis)	Amphibia	atl1¹	atlastin GTPase 1	80(n) 89.06(a)		779669 NM_001078754.1 NP_001072222.1
zebrafish (Danio rerio)	Actinopterygii	atl1¹	atlastin GTPase 1	72.04(n) 80.43(a)		571909 NM_001145700.1 NP_001139172.1
fruit fly (Drosophila melanogaster)	Insecta	atl⁶	atlastin	53(a)	1 → many	3R(20451397-20460436)
worm (Caenorhabditis elegans)	Secernentea	atln-1⁶	Protein Y54G2A.2, isoform a	49(a)	1 → many	IV(2788692-2796813) WBGene00021868

ENSEMBL Gene Tree for ATL1 (if available)
TreeFam Gene Tree for ATL1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ATL1 gene

RNF112² ATL3² ATL2²

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

ATL1-alpha BCL11B SPG3A ATL1-delta ATL1-gamma ATL3

ATL2 BCL11A REST ZNF697 ZNF78L1 ZNF430

kr-znf3 ZNF ZFS-5 KLF1 PLZF ZNF791

Find genes that share paralogs with ATL1 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
VAR_067655⁴	Spastic paraplegia 3, autosomal dominant (SPG3)⁴	--	see VAR_067655	2	Q E	mis⁴		0	--	--	--	--
VAR_065508⁴	Neuropathy, hereditary sensory, 1D (HSN1D)⁴	--	see VAR_065508	2	E Q	mis⁴		0	--	--	--	--
VAR_017149⁴	Spastic paraplegia 3, autosomal dominant (SPG3)⁴	--	see VAR_017149	2	S Y	mis⁴		0	--	--	--	--
VAR_065509⁴	Spastic paraplegia 3, autosomal dominant (SPG3)⁴	--	see VAR_065509	2	L W	mis⁴		0	--	--	--	--
VAR_067660⁴	Spastic paraplegia 3, autosomal dominant (SPG3)⁴	--	see VAR_067660	2	R W	mis⁴		0	--	--	--	--
VAR_017146⁴	Spastic paraplegia 3, autosomal dominant (SPG3)⁴	--	see VAR_017146	2	R Q	mis⁴		0	--	--	--	--
VAR_067657⁴	Spastic paraplegia 3, autosomal dominant (SPG3)⁴	--	see VAR_067657	2	V I	mis⁴		0	--	--	--	--
VAR_065511⁴	Spastic paraplegia 3, autosomal dominant (SPG3)⁴	--	see VAR_065511	2	M V	mis⁴		0	--	--	--	--
VAR_067659⁴	Spastic paraplegia 3, autosomal dominant (SPG3)⁴	--	see VAR_067659	2	N T	mis⁴		0	--	--	--	--
VAR_017148⁴	Spastic paraplegia 3, autosomal dominant (SPG3)⁴	--	see VAR_017148	2	H R	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for ATL1 (50999227 - 51099786 bp)

Structural Variations
Database of Genomic Variants (DGV) 6 variations for ATL1: About this table

Variant ID	Type	Subtype	PubMed ID
esv2666565	CNV	Deletion	23128226
esv2663828	CNV	Deletion	23128226
esv2665685	CNV	Deletion	23128226
nsv1274	CNV	Insertion	18451855
nsv1273	CNV	Loss	18451855
nsv826949	CNV	Gain	20364138

Human Gene Mutation Database (HGMD): ATL1

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 606439
OMIM disorders: 182600 613708
UniProtKB/Swiss-Prot: ATLA1_HUMAN, Q8WXF7

Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]: A form of spastic paraplegia, a

neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower

limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include

difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.

In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness

may spread to other parts of the body. Note=The disease is caused by mutations affecting the gene represented in

this entry

Neuropathy, hereditary sensory, 1D (HSN1D) [MIM:613708]: A disease characterized by adult-onset distal

axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show

features suggesting upper neuron involvement. Note=The disease is caused by mutations affecting the gene

represented in this entry

11 diseases for ATL1:
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spastic paraplegia 3 spastic paraplegia 3a spastic paraplegia 3a, autosomal dominant hereditary sensory neuropathy type id

paraplegia retinitis pigmentosa 3 hereditary spastic paraplegia neuropathy, hereditary sensory and autonomic, type ia

donohue syndrome hereditary sensory neuropathy retinitis pigmentosa

2 inferred disease relationships from the University of Copenhagen DISEASES database for ATL1:

Paraplegia Donohue Syndrome

Find genes that share disorders with ATL1 About GenesLikeMe

4 Novoseek inferred disease relationships for ATL1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
spg3a	98.5	79	16533974 (8), 15477516 (7), 14695538 (6), 19423133 (5) (see all 20)
spastic paraplegia hereditary autosomal dominant	95.9	12	14607301 (2), 14695538 (2), 19459885 (2), 18270207 (1) (see all 7)
spastic paraplegia hereditary	94.8	19	16533974 (3), 15477516 (2), 19423133 (1), 12939451 (1) (see all 13)
spastic paraplegia	84.5	11	15742100 (2), 15517445 (2), 15596607 (1), 17321752 (1) (see all 5)

Genetic Association Database (GAD): ATL1
Human Genome Epidemiology (HuGE) Navigator: ATL1 (10 documents)

Export disorders for ATL1 gene to outside databases

(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)
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PubMed articles for ATL1 gene, integrated from 10 sources (see all 109):
(articles sorted by number of sources associating them with ATL1)

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

De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. (PubMed id 16533974)^{1, 2, 9} Rainier S.... Fink J.K. (Arch. Neurol. 2006)
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. (Hum. Mutat. 2004)
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. (Mol. Cell. Neurosci. 2007)
Characterization of a novel SPG3A deletion in a French-Canadian family. (PubMed id 17427918)^{1, 2, 9} Meijer I.A.... Rouleau G.A. (Ann. Neurol. 2007)
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. (Proc. Natl. Acad. Sci. U.S.A. 2006)
Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. (PubMed id 12939451)^{1, 2, 9} Dalpozzo F.... Martinuzzi A. (Neurology 2003)
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. (PubMed id 11685207)^{1, 2, 9} Zhao X.... Fink J.K. (Nat. Genet. 2001)
Structural basis for conformational switching and GTP loading of the large G protein atlastin. (PubMed id 23334294)^{1, 2} Byrnes L.J....Sondermann H. (EMBO J. 2013)
Targeted high-throughput sequencing identifies mutations in atlastin- 1 as a cause of hereditary sensory neuropathy type I. (PubMed id 21194679)^{1, 2} Guelly C.... Auer-Grumbach M. (Am. J. Hum. Genet. 2011)
Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes. (PubMed id 21368113)^{1, 2} Bian X....Hu J. (Proc. Natl. Acad. Sci. U.S.A. 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 51062	HGNC: 11231	AceView: SPG3A	Ensembl:ENSG00000198513	euGenes: HUgn51062
ECgene: ATL1	H-InvDB: ATL1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ATL1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATL1[genesymbol]

Intellectual Property for ATL1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ATL1 gene:
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GeneCards and IP:
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Atlastin GTPase 1

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ATL1 (Gene Symbol)
Atlastin GTPase 1
SPG3A
SPG3
Brain-Specific GTP-Binding Protein
Guanine Nucleotide-Binding Protein 3
Spastic Paraplegia 3 Protein A
GBP-3
GBP3
GTP-Binding Protein 3
hGBP3
HSN1D
atlastin
Spastic Paraplegia 3A (Autosomal Dominant)
AD-FSP
FSP1
atlastin-1
atlastin1
Guanylate-Binding Protein 3
EC 3.6.5.-

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