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Protein

Atlastin-1

Gene

ATL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:27619977). May also regulate Golgi biogenesis. May regulate axonal development.8 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi74 – 81GTP8
Nucleotide bindingi118 – 120GTP3
Nucleotide bindingi217 – 218GTP2
Nucleotide bindingi276 – 279GTP4

GO - Molecular functioni

  • GTPase activity Source: UniProtKB
  • GTP binding Source: UniProtKB
  • identical protein binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionHydrolase
LigandGTP-binding, Nucleotide-binding

Protein family/group databases

TCDBi1.N.5.1.1 the endoplasmic reticulum fusion gtpase, atlastin (atlastin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Atlastin-1 (EC:3.6.5.-)
Alternative name(s):
Brain-specific GTP-binding protein
GTP-binding protein 3
Short name:
GBP-3
Short name:
hGBP3
Guanine nucleotide-binding protein 3
Spastic paraplegia 3 protein A
Gene namesi
Name:ATL1
Synonyms:GBP3, SPG3A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000198513.11
HGNCiHGNC:11231 ATL1
MIMi606439 gene
neXtProtiNX_Q8WXF7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 449Cytoplasmic1 PublicationAdd BLAST449
Transmembranei450 – 470HelicalSequence analysisAdd BLAST21
Topological domaini471LumenalSequence analysis1
Transmembranei472 – 492HelicalSequence analysisAdd BLAST21
Topological domaini493 – 558Cytoplasmic1 PublicationAdd BLAST66

Keywords - Cellular componenti

Cell projection, Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 3, autosomal dominant (SPG3)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:182600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071874118R → Q in SPG3. 1 PublicationCorresponds to variant dbSNP:rs606231265EnsemblClinVar.1
Natural variantiVAR_067655154Q → E in SPG3. 1 Publication1
Natural variantiVAR_065509157L → W in SPG3. 1 PublicationCorresponds to variant dbSNP:rs119476051EnsemblClinVar.1
Natural variantiVAR_019446161A → P in SPG3; affects endoplasmic reticulum and Golgi morphology. 2 Publications1
Natural variantiVAR_017146217R → Q in SPG3; abolishes homodimerization and GTPase activity and alters endoplasmic reticulum morphology. 4 PublicationsCorresponds to variant dbSNP:rs119476049EnsemblClinVar.1
Natural variantiVAR_017147239R → C in SPG3; affects endoplasmic reticulum and Golgi morphology. 4 PublicationsCorresponds to variant dbSNP:rs119476046EnsemblClinVar.1
Natural variantiVAR_019447247H → P in SPG3. 1 Publication1
Natural variantiVAR_067657253V → I in SPG3. 3 PublicationsCorresponds to variant dbSNP:rs864622520EnsemblClinVar.1
Natural variantiVAR_017148258H → R in SPG3. 1 PublicationCorresponds to variant dbSNP:rs119476048EnsemblClinVar.1
Natural variantiVAR_017149259S → Y in SPG3. 1 PublicationCorresponds to variant dbSNP:rs119476047EnsemblClinVar.1
Natural variantiVAR_065511408M → V in SPG3. 1 PublicationCorresponds to variant dbSNP:rs28939094EnsemblClinVar.1
Natural variantiVAR_067658413F → V in SPG3. 1 Publication1
Natural variantiVAR_071708415R → Q in SPG3. 1 PublicationCorresponds to variant dbSNP:rs397514712EnsemblClinVar.1
Natural variantiVAR_065512415R → W in SPG3. 3 PublicationsCorresponds to variant dbSNP:rs119476050EnsemblClinVar.1
Natural variantiVAR_071709416R → C in SPG3. 1 PublicationCorresponds to variant dbSNP:rs387906941EnsemblClinVar.1
Natural variantiVAR_065513436Missing in SPG3; does not affect GTPase activity; does not affect interaction with SPAST; patients' lymphoblasts show decreased protein levels but normal levels of mRNA. 1 Publication1
Natural variantiVAR_067659440N → T in SPG3. 1 Publication1
Natural variantiVAR_067660495R → W in SPG3; affects endoplasmic reticulum and Golgi morphology. 3 PublicationsCorresponds to variant dbSNP:rs864622269EnsemblClinVar.1
Neuropathy, hereditary sensory, 1D (HSN1D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613708
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06550866E → Q in HSN1D; shows no significant changes in GTPase activity and no changes in endoplasmic reticulum morphology. 1 PublicationCorresponds to variant dbSNP:rs200314808EnsemblClinVar.1
Natural variantiVAR_065510355N → K in HSN1D; the mutant protein has decreased GTPase activity compared to wild-type and causes disruption of endoplasmic reticulum network morphology. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi77R → A: Abolishes GTPase activity and impairs homodimerization. 2 Publications1
Mutagenesisi77R → E: Abolishes homodimerization. 2 Publications1
Mutagenesisi80K → A: Alters endoplasmic reticulum morphogenesis. 2 Publications1
Mutagenesisi151F → S: Affects endoplasmic reticulum and Golgi morphology. 1 Publication1
Mutagenesisi162T → P: Affects endoplasmic reticulum and Golgi morphology. 1 Publication1
Mutagenesisi191Q → R: Abolishes homodimerization. 1 Publication1
Mutagenesisi247H → R: Impairs homodimerization and GTPase activity. 1 Publication1
Mutagenesisi398S → Y: Affects endoplasmic reticulum and Golgi morphology. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi51062
GeneReviewsiATL1
MalaCardsiATL1
MIMi182600 phenotype
613708 phenotype
OpenTargetsiENSG00000198513
Orphaneti100984 Autosomal dominant spastic paraplegia type 3
36386 Hereditary sensory and autonomic neuropathy type 1
PharmGKBiPA36061

Polymorphism and mutation databases

BioMutaiATL1
DMDMi37999727

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001909711 – 558Atlastin-1Add BLAST558

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei10PhosphoserineBy similarity1
Modified residuei22PhosphoserineBy similarity1
Modified residuei23PhosphoserineBy similarity1
Modified residuei395N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8WXF7
MaxQBiQ8WXF7
PaxDbiQ8WXF7
PeptideAtlasiQ8WXF7
PRIDEiQ8WXF7
ProteomicsDBi75028

PTM databases

iPTMnetiQ8WXF7
PhosphoSitePlusiQ8WXF7
SwissPalmiQ8WXF7

Expressioni

Tissue specificityi

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).3 Publications

Gene expression databases

BgeeiENSG00000198513 Expressed in 187 organ(s), highest expression level in middle temporal gyrus
CleanExiHS_ATL1
ExpressionAtlasiQ8WXF7 baseline and differential
GenevisibleiQ8WXF7 HS

Organism-specific databases

HPAiHPA027550

Interactioni

Subunit structurei

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. Interacts with CPT1C. Interacts with ARL6IP1 (By similarity). Interacts with ZFYVE27 (PubMed:23969831).By similarity11 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119254, 3 interactors
CORUMiQ8WXF7
DIPiDIP-53502N
IntActiQ8WXF7, 9 interactors
MINTiQ8WXF7
STRINGi9606.ENSP00000351155

Structurei

Secondary structure

1558
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8WXF7
SMRiQ8WXF7
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8WXF7

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini64 – 309GB1/RHD3-type GAdd BLAST246

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni448 – 558Sufficient for membrane associationAdd BLAST111

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili412 – 439Sequence analysisAdd BLAST28

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2037 Eukaryota
ENOG410XR6Z LUCA
GeneTreeiENSGT00390000008959
HOGENOMiHOG000234332
HOVERGENiHBG062891
InParanoidiQ8WXF7
KOiK17339
OMAiNHRHLYH
OrthoDBiEOG091G053P
PhylomeDBiQ8WXF7
TreeFamiTF105251

Family and domain databases

InterProiView protein in InterPro
IPR030386 G_GB1_RHD3_dom
IPR036543 Guanylate-bd_C_sf
IPR015894 Guanylate-bd_N
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF02263 GBP, 1 hit
SUPFAMiSSF48340 SSF48340, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51715 G_GB1_RHD3, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WXF7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAKNRRDRNS WGGFSEKTYE WSSEEEEPVK KAGPVQVLIV KDDHSFELDE
60 70 80 90 100
TALNRILLSE AVRDKEVVAV SVAGAFRKGK SFLMDFMLRY MYNQESVDWV
110 120 130 140 150
GDYNEPLTGF SWRGGSERET TGIQIWSEIF LINKPDGKKV AVLLMDTQGT
160 170 180 190 200
FDSQSTLRDS ATVFALSTMI SSIQVYNLSQ NVQEDDLQHL QLFTEYGRLA
210 220 230 240 250
MEETFLKPFQ SLIFLVRDWS FPYEFSYGAD GGAKFLEKRL KVSGNQHEEL
260 270 280 290 300
QNVRKHIHSC FTNISCFLLP HPGLKVATNP NFDGKLKEID DEFIKNLKIL
310 320 330 340 350
IPWLLSPESL DIKEINGNKI TCRGLVEYFK AYIKIYQGEE LPHPKSMLQA
360 370 380 390 400
TAEANNLAAV ATAKDTYNKK MEEICGGDKP FLAPNDLQTK HLQLKEESVK
410 420 430 440 450
LFRGVKKMGG EEFSRRYLQQ LESEIDELYI QYIKHNDSKN IFHAARTPAT
460 470 480 490 500
LFVVIFITYV IAGVTGFIGL DIIASLCNMI MGLTLITLCT WAYIRYSGEY
510 520 530 540 550
RELGAVIDQV AAALWDQGST NEALYKLYSA AATHRHLYHQ AFPTPKSEST

EQSEKKKM
Length:558
Mass (Da):63,544
Last modified:March 1, 2002 - v1
Checksum:i68A33C39DD43504C
GO
Isoform 2 (identifier: Q8WXF7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     518-522: Missing.

Note: No experimental confirmation available.
Show »
Length:553
Mass (Da):63,055
Checksum:i663877DBC4B1FC67
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YJA7H0YJA7_HUMAN
Atlastin-1
ATL1
105Annotation score:
H0YJ65H0YJ65_HUMAN
Atlastin-1
ATL1
52Annotation score:
G3V5T4G3V5T4_HUMAN
Atlastin-1
ATL1
99Annotation score:
G3V334G3V334_HUMAN
Atlastin-1
ATL1
47Annotation score:
G3V4Y8G3V4Y8_HUMAN
Atlastin-1
ATL1
75Annotation score:
G3V321G3V321_HUMAN
Atlastin-1
ATL1
29Annotation score:

Sequence cautioni

The sequence AAD20047 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAK51160 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05896343D → E1 PublicationCorresponds to variant dbSNP:rs17850684EnsemblClinVar.1
Natural variantiVAR_06550866E → Q in HSN1D; shows no significant changes in GTPase activity and no changes in endoplasmic reticulum morphology. 1 PublicationCorresponds to variant dbSNP:rs200314808EnsemblClinVar.1
Natural variantiVAR_071874118R → Q in SPG3. 1 PublicationCorresponds to variant dbSNP:rs606231265EnsemblClinVar.1
Natural variantiVAR_067655154Q → E in SPG3. 1 Publication1
Natural variantiVAR_065509157L → W in SPG3. 1 PublicationCorresponds to variant dbSNP:rs119476051EnsemblClinVar.1
Natural variantiVAR_019446161A → P in SPG3; affects endoplasmic reticulum and Golgi morphology. 2 Publications1
Natural variantiVAR_058964193F → C1 PublicationCorresponds to variant dbSNP:rs17850683EnsemblClinVar.1
Natural variantiVAR_067656196Y → C in a patient with hereditary spastic paraplegia; unknown pathological significance; no effect on homodimerization and GTPase activity. 2 Publications1
Natural variantiVAR_017146217R → Q in SPG3; abolishes homodimerization and GTPase activity and alters endoplasmic reticulum morphology. 4 PublicationsCorresponds to variant dbSNP:rs119476049EnsemblClinVar.1
Natural variantiVAR_017147239R → C in SPG3; affects endoplasmic reticulum and Golgi morphology. 4 PublicationsCorresponds to variant dbSNP:rs119476046EnsemblClinVar.1
Natural variantiVAR_019447247H → P in SPG3. 1 Publication1
Natural variantiVAR_067657253V → I in SPG3. 3 PublicationsCorresponds to variant dbSNP:rs864622520EnsemblClinVar.1
Natural variantiVAR_017148258H → R in SPG3. 1 PublicationCorresponds to variant dbSNP:rs119476048EnsemblClinVar.1
Natural variantiVAR_017149259S → Y in SPG3. 1 PublicationCorresponds to variant dbSNP:rs119476047EnsemblClinVar.1
Natural variantiVAR_065510355N → K in HSN1D; the mutant protein has decreased GTPase activity compared to wild-type and causes disruption of endoplasmic reticulum network morphology. 1 Publication1
Natural variantiVAR_065511408M → V in SPG3. 1 PublicationCorresponds to variant dbSNP:rs28939094EnsemblClinVar.1
Natural variantiVAR_067658413F → V in SPG3. 1 Publication1
Natural variantiVAR_071708415R → Q in SPG3. 1 PublicationCorresponds to variant dbSNP:rs397514712EnsemblClinVar.1
Natural variantiVAR_065512415R → W in SPG3. 3 PublicationsCorresponds to variant dbSNP:rs119476050EnsemblClinVar.1
Natural variantiVAR_071709416R → C in SPG3. 1 PublicationCorresponds to variant dbSNP:rs387906941EnsemblClinVar.1
Natural variantiVAR_065513436Missing in SPG3; does not affect GTPase activity; does not affect interaction with SPAST; patients' lymphoblasts show decreased protein levels but normal levels of mRNA. 1 Publication1
Natural variantiVAR_067659440N → T in SPG3. 1 Publication1
Natural variantiVAR_067660495R → W in SPG3; affects endoplasmic reticulum and Golgi morphology. 3 PublicationsCorresponds to variant dbSNP:rs864622269EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_044864518 – 522Missing in isoform 2. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY032844 mRNA Translation: AAK51160.1 Different initiation.
AF444143 mRNA Translation: AAL37898.1
AK290185 mRNA Translation: BAF82874.1
AL833591 mRNA Translation: CAH10392.1
AL118556 Genomic DNA No translation available.
AL606834 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW65705.1
CH471078 Genomic DNA Translation: EAW65706.1
BC010708 mRNA Translation: AAH10708.2
AF131801 mRNA Translation: AAD20047.1 Different initiation.
CCDSiCCDS32077.1 [Q8WXF7-2]
CCDS9700.1 [Q8WXF7-1]
RefSeqiNP_001121185.1, NM_001127713.1 [Q8WXF7-2]
NP_056999.2, NM_015915.4 [Q8WXF7-1]
NP_853629.2, NM_181598.3 [Q8WXF7-2]
UniGeneiHs.584905

Genome annotation databases

EnsembliENST00000358385; ENSP00000351155; ENSG00000198513 [Q8WXF7-1]
ENST00000441560; ENSP00000413675; ENSG00000198513 [Q8WXF7-2]
GeneIDi51062
KEGGihsa:51062
UCSCiuc001wyd.5 human [Q8WXF7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY032844 mRNA Translation: AAK51160.1 Different initiation.
AF444143 mRNA Translation: AAL37898.1
AK290185 mRNA Translation: BAF82874.1
AL833591 mRNA Translation: CAH10392.1
AL118556 Genomic DNA No translation available.
AL606834 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW65705.1
CH471078 Genomic DNA Translation: EAW65706.1
BC010708 mRNA Translation: AAH10708.2
AF131801 mRNA Translation: AAD20047.1 Different initiation.
CCDSiCCDS32077.1 [Q8WXF7-2]
CCDS9700.1 [Q8WXF7-1]
RefSeqiNP_001121185.1, NM_001127713.1 [Q8WXF7-2]
NP_056999.2, NM_015915.4 [Q8WXF7-1]
NP_853629.2, NM_181598.3 [Q8WXF7-2]
UniGeneiHs.584905

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3Q5DX-ray2.70A1-447[»]
3Q5EX-ray3.01A/C/E/G1-447[»]
3QNUX-ray2.80A18-447[»]
3QOFX-ray2.80A/B/C/D18-447[»]
4IDNX-ray2.25A/B1-446[»]
4IDOX-ray2.09A/B1-446[»]
4IDPX-ray2.59A/B/C/D1-446[»]
4IDQX-ray2.30A/B/C/D1-446[»]
6B9DX-ray1.95A/B1-446[»]
6B9EX-ray1.99A/B1-446[»]
6B9FX-ray1.90A/B1-446[»]
6B9GX-ray3.00A/B/C/D1-339[»]
ProteinModelPortaliQ8WXF7
SMRiQ8WXF7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119254, 3 interactors
CORUMiQ8WXF7
DIPiDIP-53502N
IntActiQ8WXF7, 9 interactors
MINTiQ8WXF7
STRINGi9606.ENSP00000351155

Protein family/group databases

TCDBi1.N.5.1.1 the endoplasmic reticulum fusion gtpase, atlastin (atlastin) family

PTM databases

iPTMnetiQ8WXF7
PhosphoSitePlusiQ8WXF7
SwissPalmiQ8WXF7

Polymorphism and mutation databases

BioMutaiATL1
DMDMi37999727

Proteomic databases

EPDiQ8WXF7
MaxQBiQ8WXF7
PaxDbiQ8WXF7
PeptideAtlasiQ8WXF7
PRIDEiQ8WXF7
ProteomicsDBi75028

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358385; ENSP00000351155; ENSG00000198513 [Q8WXF7-1]
ENST00000441560; ENSP00000413675; ENSG00000198513 [Q8WXF7-2]
GeneIDi51062
KEGGihsa:51062
UCSCiuc001wyd.5 human [Q8WXF7-1]

Organism-specific databases

CTDi51062
DisGeNETi51062
EuPathDBiHostDB:ENSG00000198513.11
GeneCardsiATL1
GeneReviewsiATL1
HGNCiHGNC:11231 ATL1
HPAiHPA027550
MalaCardsiATL1
MIMi182600 phenotype
606439 gene
613708 phenotype
neXtProtiNX_Q8WXF7
OpenTargetsiENSG00000198513
Orphaneti100984 Autosomal dominant spastic paraplegia type 3
36386 Hereditary sensory and autonomic neuropathy type 1
PharmGKBiPA36061
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2037 Eukaryota
ENOG410XR6Z LUCA
GeneTreeiENSGT00390000008959
HOGENOMiHOG000234332
HOVERGENiHBG062891
InParanoidiQ8WXF7
KOiK17339
OMAiNHRHLYH
OrthoDBiEOG091G053P
PhylomeDBiQ8WXF7
TreeFamiTF105251

Miscellaneous databases

ChiTaRSiATL1 human
EvolutionaryTraceiQ8WXF7
GeneWikiiAtlastin
GenomeRNAii51062
PROiPR:Q8WXF7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198513 Expressed in 187 organ(s), highest expression level in middle temporal gyrus
CleanExiHS_ATL1
ExpressionAtlasiQ8WXF7 baseline and differential
GenevisibleiQ8WXF7 HS

Family and domain databases

InterProiView protein in InterPro
IPR030386 G_GB1_RHD3_dom
IPR036543 Guanylate-bd_C_sf
IPR015894 Guanylate-bd_N
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF02263 GBP, 1 hit
SUPFAMiSSF48340 SSF48340, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51715 G_GB1_RHD3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiATLA1_HUMAN
AccessioniPrimary (citable) accession number: Q8WXF7
Secondary accession number(s): A6NND5
, A8K2C0, G5E9T1, O95890, Q69YH7, Q96FK0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: March 1, 2002
Last modified: November 7, 2018
This is version 153 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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