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Protein

Atlastin-1

Gene

ATL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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. May also regulate Golgi biogenesis. May regulate axonal development.7 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

  • axonogenesis Source: UniProtKB
  • endoplasmic reticulum organization Source: UniProtKB
  • protein homooligomerization Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

GTP-binding, Nucleotide-binding

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

HGNCiHGNC:11231. ATL1.

Subcellular locationi

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

GO - Cellular componenti

  • axon Source: UniProtKB-SubCell
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB
  • endoplasmic reticulum tubular network Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • Golgi cis cisterna Source: UniProtKB
  • Golgi membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 3, autosomal dominant (SPG3)12 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 rs606231265dbSNPEnsembl.1
Natural variantiVAR_067655154Q → E in SPG3. 1 Publication1
Natural variantiVAR_065509157L → W in SPG3. 1 PublicationCorresponds to variant rs119476051dbSNPEnsembl.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. 3 PublicationsCorresponds to variant rs119476049dbSNPEnsembl.1
Natural variantiVAR_017147239R → C in SPG3; affects endoplasmic reticulum and Golgi morphology. 4 PublicationsCorresponds to variant rs119476046dbSNPEnsembl.1
Natural variantiVAR_019447247H → P in SPG3. 1 Publication1
Natural variantiVAR_067657253V → I in SPG3. 2 Publications1
Natural variantiVAR_017148258H → R in SPG3. 1 PublicationCorresponds to variant rs119476048dbSNPEnsembl.1
Natural variantiVAR_017149259S → Y in SPG3. 1 PublicationCorresponds to variant rs119476047dbSNPEnsembl.1
Natural variantiVAR_065511408M → V in SPG3. 1 PublicationCorresponds to variant rs28939094dbSNPEnsembl.1
Natural variantiVAR_067658413F → V in SPG3. 1 Publication1
Natural variantiVAR_071708415R → Q in SPG3. 1 PublicationCorresponds to variant rs397514712dbSNPEnsembl.1
Natural variantiVAR_065512415R → W in SPG3. 3 PublicationsCorresponds to variant rs119476050dbSNPEnsembl.1
Natural variantiVAR_071709416R → C in SPG3. 1 PublicationCorresponds to variant rs387906941dbSNPEnsembl.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 Publications1
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 rs200314808dbSNPEnsembl.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. 1 Publication1
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.
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.

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.
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

WithEntry#Exp.IntActNotes
itself4EBI-2410266,EBI-2410266
Reep5Q608702EBI-2410266,EBI-2410304From a different organism.
Rtn3Q9ES97-33EBI-2410266,EBI-1487798From a different organism.
RTN4Q9NQC3-12EBI-2410266,EBI-715972
Rtn4Q9JK11-32EBI-2410266,EBI-920002From a different organism.

GO - Molecular functioni

  • identical protein binding Source: UniProtKB

Protein-protein interaction databases

BioGridi119254. 3 interactors.
DIPiDIP-53502N.
IntActiQ8WXF7. 8 interactors.
STRINGi9606.ENSP00000351155.

Structurei

Secondary structure

1558
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi34 – 40Combined sources7
Turni42 – 44Combined sources3
Beta strandi46 – 48Combined sources3
Helixi50 – 57Combined sources8
Turni60 – 64Combined sources5
Beta strandi65 – 75Combined sources11
Beta strandi76 – 79Combined sources4
Helixi80 – 92Combined sources13
Turni93 – 95Combined sources3
Turni97 – 100Combined sources4
Beta strandi115 – 117Combined sources3
Beta strandi122 – 128Combined sources7
Beta strandi130 – 133Combined sources4
Beta strandi135 – 137Combined sources3
Beta strandi139 – 147Combined sources9
Beta strandi152 – 156Combined sources5
Helixi157 – 170Combined sources14
Beta strandi172 – 181Combined sources10
Helixi184 – 200Combined sources17
Beta strandi208 – 217Combined sources10
Turni222 – 224Combined sources3
Helixi229 – 240Combined sources12
Helixi248 – 260Combined sources13
Beta strandi261 – 268Combined sources8
Helixi274 – 278Combined sources5
Helixi286 – 288Combined sources3
Helixi291 – 305Combined sources15
Turni307 – 309Combined sources3
Helixi322 – 337Combined sources16
Beta strandi338 – 341Combined sources4
Helixi347 – 375Combined sources29
Beta strandi377 – 380Combined sources4
Helixi384 – 404Combined sources21
Helixi410 – 438Combined sources29
Helixi443 – 446Combined sources4

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[»]
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.
OMAiHDYPNGD.
OrthoDBiEOG091G053P.
PhylomeDBiQ8WXF7.
TreeFamiTF105251.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR030386. G_GB1_RHD3_dom.
IPR003191. Guanylate-bd_C.
IPR015894. Guanylate-bd_N.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF02263. GBP. 1 hit.
[Graphical view]
SUPFAMiSSF48340. SSF48340. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS51715. G_GB1_RHD3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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 → E.1 PublicationCorresponds to variant rs17850684dbSNPEnsembl.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 rs200314808dbSNPEnsembl.1
Natural variantiVAR_071874118R → Q in SPG3. 1 PublicationCorresponds to variant rs606231265dbSNPEnsembl.1
Natural variantiVAR_067655154Q → E in SPG3. 1 Publication1
Natural variantiVAR_065509157L → W in SPG3. 1 PublicationCorresponds to variant rs119476051dbSNPEnsembl.1
Natural variantiVAR_019446161A → P in SPG3; affects endoplasmic reticulum and Golgi morphology. 2 Publications1
Natural variantiVAR_058964193F → C.1 PublicationCorresponds to variant rs17850683dbSNPEnsembl.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. 3 PublicationsCorresponds to variant rs119476049dbSNPEnsembl.1
Natural variantiVAR_017147239R → C in SPG3; affects endoplasmic reticulum and Golgi morphology. 4 PublicationsCorresponds to variant rs119476046dbSNPEnsembl.1
Natural variantiVAR_019447247H → P in SPG3. 1 Publication1
Natural variantiVAR_067657253V → I in SPG3. 2 Publications1
Natural variantiVAR_017148258H → R in SPG3. 1 PublicationCorresponds to variant rs119476048dbSNPEnsembl.1
Natural variantiVAR_017149259S → Y in SPG3. 1 PublicationCorresponds to variant rs119476047dbSNPEnsembl.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 rs28939094dbSNPEnsembl.1
Natural variantiVAR_067658413F → V in SPG3. 1 Publication1
Natural variantiVAR_071708415R → Q in SPG3. 1 PublicationCorresponds to variant rs397514712dbSNPEnsembl.1
Natural variantiVAR_065512415R → W in SPG3. 3 PublicationsCorresponds to variant rs119476050dbSNPEnsembl.1
Natural variantiVAR_071709416R → C in SPG3. 1 PublicationCorresponds to variant rs387906941dbSNPEnsembl.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 Publications1

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

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[»]
ProteinModelPortaliQ8WXF7.
SMRiQ8WXF7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119254. 3 interactors.
DIPiDIP-53502N.
IntActiQ8WXF7. 8 interactors.
STRINGi9606.ENSP00000351155.

PTM databases

iPTMnetiQ8WXF7.
PhosphoSitePlusiQ8WXF7.
SwissPalmiQ8WXF7.

Polymorphism and mutation databases

BioMutaiATL1.
DMDMi37999727.

Proteomic databases

EPDiQ8WXF7.
MaxQBiQ8WXF7.
PaxDbiQ8WXF7.
PeptideAtlasiQ8WXF7.
PRIDEiQ8WXF7.

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.
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.
OMAiHDYPNGD.
OrthoDBiEOG091G053P.
PhylomeDBiQ8WXF7.
TreeFamiTF105251.

Miscellaneous databases

ChiTaRSiATL1. human.
EvolutionaryTraceiQ8WXF7.
GeneWikiiAtlastin.
GenomeRNAii51062.
PROiQ8WXF7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198513.
CleanExiHS_ATL1.
ExpressionAtlasiQ8WXF7. baseline and differential.
GenevisibleiQ8WXF7. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR030386. G_GB1_RHD3_dom.
IPR003191. Guanylate-bd_C.
IPR015894. Guanylate-bd_N.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF02263. GBP. 1 hit.
[Graphical view]
SUPFAMiSSF48340. SSF48340. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS51715. G_GB1_RHD3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiATLA1_HUMAN
AccessioniPrimary (citable) accession number: Q8WXF7
Secondary accession number(s): A6NND5
, A8K2C0, G5E9T1, O95890, Q69YH7, Q96FK0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: March 1, 2002
Last modified: November 2, 2016
This is version 138 of the entry and version 1 of the sequence. [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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.