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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ATL1 Gene

protein-coding GIFtS: 53
GCID: GC14P050999

Atlastin GTPase 1

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

28 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)
About This Section

Aliases
Atlastin GTPase 1¹ ²		atlastin¹
SPG3A¹ ² ³ ⁵		Spastic Paraplegia 3A (Autosomal Dominant)¹
SPG3¹ ²		AD-FSP²
Brain-Specific GTP-Binding Protein² ³		FSP1²
Guanine Nucleotide-Binding Protein 3² ³		HSN1D²
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

Export aliases for ATL1 gene to outside databases

Previous GC identifers: GC14P050097 GC14P031125

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 GTP binding and GTPase activity. An important paralog of this gene is RNF112.

UniProtKB/Swiss-Prot: ATLA1_HUMAN, Q8WXF7

Function: GTPase tethering membranes through formation of trans-homooligomer 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.2 NT_026437.12

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for ATL1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ATLA1_HUMAN, Q8WXF7 (See protein sequence)

Recommended Name: Atlastin-1

Size: 558 amino acids; 63544 Da

Subunit: Homooligomer. 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

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass

membrane protein. Cell projection, axon (By similarity)

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

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

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)

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:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q8WXF7

ATL1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

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

Human Recombinant Protein Products for ATL1:

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	Cloud-Clone Corp. Proteins for ATL1

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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	--

ATL1 for ontologies About GeneDecksing

ATL1 Antibody Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

3 InterPro protein domains:

IPR027417 P-loop_NTPase

IPR003191 Guanylate-bd_C

IPR015894 Guanylate-bd_N

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

ATL1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ATLA1_HUMAN, Q8WXF7

Function: GTPase tethering membranes through formation of trans-homooligomer 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 (GO ID links to tree view): 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	IDA	14506257

ATL1 for ontologies About GeneDecksing

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

behavior/neurological

limbs/digits/tail

ATL1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Atl1^tm1Jfnk for ATL1

inGenious Targeting Laboratory - Custom generated mouse model solutions for ATL1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ATL1

miRNA Products:
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		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

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATL1

(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for ATL1 About

See pathways by source

SuperPath

Contained pathways About

Cytoskeletal Signaling

Cytoskeletal Signaling

Pathways by source See SuperPaths
Show all pathways

1 Cell Signaling Technology (CST) Pathway for ATL1

Cytoskeletal Signaling

ATL1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ATL1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5 Interacting proteins for ATL1 (Q8WXF7¹ ENSP00000351155⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RTN4	ENSP00000337838⁴	STRING: ENSP00000337838
TMED2	ENSP00000262225⁴	STRING: ENSP00000262225
TMED9	ENSP00000330945⁴	STRING: ENSP00000330945
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
Reep5	Q60870¹	EBI-2410266,EBI-2410304

About this table

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

ATL1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ATL1 (ATLA1)

Search CenterWatch for drugs/clinical trials and news about 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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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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 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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		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

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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

24/156 AceView cDNA sequences (see all 156):

AW157688 BM710820 CA748825 BX280776 AA704912 CR599776 AA338476 AI879690

AL833591 AF131801 AI969318 AW674605 BU742971 AA772999 AI800525 BQ446187

NM_181598 AW450282 BU625618 AA194727 BM728950 BI462577 AA195568 BP362632

GeneLoc Exon Structure

5/6 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™, 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

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

See ATL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATL1

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
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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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ATL1 gene from 6/13 species (see all 13) 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	80.91(n) 92.55(a)		423577 XM_421466.3 XP_421466.3
lizard (Anolis carolinensis)	Reptilia	ATL1⁶	Uncharacterized protein	92(a)	1 ↔ 1	AAWZ02036468(1901-24750)
zebrafish (Danio rerio)	Actinopterygii	atl1¹	atlastin GTPase 1	72.1(n) 80.43(a)		571909 NM_001145700.1 NP_001139172.1
fruit fly (Drosophila melanogaster)	Insecta	atl⁶	atlastin	52(a)	1 → many	3R(20451397-20460436)
worm (Caenorhabditis elegans)	Secernentea	Y54G2A.2⁶ Y41E3.3⁶	Protein Y41E3.3	49(a) 35(a)	many → 1 possible ortholog	IV(2788690-2796813) IV(14981609-14996316)

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)
About This Section

Paralogs for ATL1 gene

RNF112² ATL3² ATL2²

18/40 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

ATL1 for paralogs About GeneDecksing

(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) 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

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	Hereditary sensory neuropathy 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

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ATL1 for disorders           About GeneDecksing

OMIM gene information: 606439
OMIM disorders: 182600
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

Hereditary sensory neuropathy 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

20/28 diseases for ATL1 (see all 28): About MalaCards

spastic paraplegia 3 spastic paraplegia 3a paraplegia neuropathy hereditary sensory and autonomic type 1

spasticity retinitis pigmentosa 3 hereditary spastic paraplegia sensory neuropathy type 1

donohue syndrome hereditary sensory neuropathy autoimmune pancreatitis axonal neuropathy

cerebral palsy motor neuron disease retinitis pigmentosa neuropathy

pertussis pulmonary fibrosis retinitis oral squamous cell carcinoma

2 diseases from the University of Copenhagen DISEASES database for ATL1:

Paraplegia Donohue Syndrome

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)
About This Section

PubMed articles for ATL1 gene, integrated from 9 sources (see all 107):
(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. (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. (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. (2007)
Characterization of a novel SPG3A deletion in a French-Canadian family. (PubMed id 17427918)^{1, 2, 9} Meijer I.A....Rouleau G.A. (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. (2006)
Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. (PubMed id 12939451)^{1, 2, 9} Dalpozzo F....Martinuzzi A. (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. (2001)
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)
Common genetic variation and performance on standardi zed cognitive tests. (PubMed id 20125193)^{1, 4} Cirulli E.T....Goldstein D.B. (2010)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 51062	HGNC: 11231	AceView: SPG3A	Ensembl:ENSG00000198513	euGenes: HUgn51062
ECgene: ATL1	H-InvDB: ATL1

(According to HUGE)
About This Section

(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 ATL1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATL1

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:
Search GeneIP for patents involving ATL1

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
atlastin
Spastic Paraplegia 3A (Autosomal Dominant)
AD-FSP
FSP1
HSN1D
atlastin-1
atlastin1
Guanylate-Binding Protein 3
EC 3.6.5.-

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ATL1 Gene

Atlastin GTPase 1

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