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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)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi74 – 818GTP
Nucleotide bindingi118 – 1203GTP
Nucleotide bindingi217 – 2182GTP
Nucleotide bindingi276 – 2794GTP

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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 449449Cytoplasmic1 PublicationAdd
BLAST
Transmembranei450 – 47021HelicalSequence analysisAdd
BLAST
Topological domaini471 – 4711LumenalSequence analysis
Transmembranei472 – 49221HelicalSequence analysisAdd
BLAST
Topological domaini493 – 55866Cytoplasmic1 PublicationAdd
BLAST

GO - Cellular componenti

  • axon Source: UniProtKB-SubCell
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti118 – 1181R → Q in SPG3. 1 Publication
Corresponds to variant rs606231265 [ dbSNP | Ensembl ].
VAR_071874
Natural varianti154 – 1541Q → E in SPG3. 1 Publication
VAR_067655
Natural varianti157 – 1571L → W in SPG3. 1 Publication
Corresponds to variant rs119476051 [ dbSNP | Ensembl ].
VAR_065509
Natural varianti161 – 1611A → P in SPG3; affects endoplasmic reticulum and Golgi morphology. 2 Publications
VAR_019446
Natural varianti217 – 2171R → Q in SPG3; abolishes homodimerization and GTPase activity and alters endoplasmic reticulum morphology. 3 Publications
Corresponds to variant rs119476049 [ dbSNP | Ensembl ].
VAR_017146
Natural varianti239 – 2391R → C in SPG3; affects endoplasmic reticulum and Golgi morphology. 4 Publications
Corresponds to variant rs119476046 [ dbSNP | Ensembl ].
VAR_017147
Natural varianti247 – 2471H → P in SPG3. 1 Publication
VAR_019447
Natural varianti253 – 2531V → I in SPG3. 2 Publications
VAR_067657
Natural varianti258 – 2581H → R in SPG3. 1 Publication
Corresponds to variant rs119476048 [ dbSNP | Ensembl ].
VAR_017148
Natural varianti259 – 2591S → Y in SPG3. 1 Publication
Corresponds to variant rs119476047 [ dbSNP | Ensembl ].
VAR_017149
Natural varianti408 – 4081M → V in SPG3. 1 Publication
Corresponds to variant rs28939094 [ dbSNP | Ensembl ].
VAR_065511
Natural varianti413 – 4131F → V in SPG3. 1 Publication
VAR_067658
Natural varianti415 – 4151R → Q in SPG3. 1 Publication
Corresponds to variant rs397514712 [ dbSNP | Ensembl ].
VAR_071708
Natural varianti415 – 4151R → W in SPG3. 3 Publications
Corresponds to variant rs119476050 [ dbSNP | Ensembl ].
VAR_065512
Natural varianti416 – 4161R → C in SPG3. 1 Publication
Corresponds to variant rs387906941 [ dbSNP | Ensembl ].
VAR_071709
Natural varianti436 – 4361Missing 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 Publication
VAR_065513
Natural varianti440 – 4401N → T in SPG3. 1 Publication
VAR_067659
Natural varianti495 – 4951R → W in SPG3; affects endoplasmic reticulum and Golgi morphology. 3 Publications
VAR_067660
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti66 – 661E → Q in HSN1D; shows no significant changes in GTPase activity and no changes in endoplasmic reticulum morphology. 1 Publication
Corresponds to variant rs200314808 [ dbSNP | Ensembl ].
VAR_065508
Natural varianti355 – 3551N → K in HSN1D; the mutant protein has decreased GTPase activity compared to wild-type and causes disruption of endoplasmic reticulum network morphology. 1 Publication
VAR_065510

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi77 – 771R → A: Abolishes GTPase activity and impairs homodimerization. 2 Publications
Mutagenesisi77 – 771R → E: Abolishes homodimerization. 2 Publications
Mutagenesisi80 – 801K → A: Alters endoplasmic reticulum morphogenesis. 1 Publication
Mutagenesisi151 – 1511F → S: Affects endoplasmic reticulum and Golgi morphology. 1 Publication
Mutagenesisi162 – 1621T → P: Affects endoplasmic reticulum and Golgi morphology. 1 Publication
Mutagenesisi191 – 1911Q → R: Abolishes homodimerization. 1 Publication
Mutagenesisi247 – 2471H → R: Impairs homodimerization and GTPase activity. 1 Publication
Mutagenesisi398 – 3981S → Y: Affects endoplasmic reticulum and Golgi morphology. 1 Publication

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration, Neuropathy

Organism-specific databases

MalaCardsiATL1.
MIMi182600. phenotype.
613708. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 558558Atlastin-1PRO_0000190971Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei10 – 101PhosphoserineBy similarity
Modified residuei22 – 221PhosphoserineBy similarity
Modified residuei23 – 231PhosphoserineBy similarity
Modified residuei395 – 3951N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8WXF7.
MaxQBiQ8WXF7.
PaxDbiQ8WXF7.
PeptideAtlasiQ8WXF7.
PRIDEiQ8WXF7.

PTM databases

iPTMnetiQ8WXF7.
PhosphoSiteiQ8WXF7.
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).By similarity10 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 interactions.
DIPiDIP-53502N.
IntActiQ8WXF7. 8 interactions.
STRINGi9606.ENSP00000351155.

Structurei

Secondary structure

1
558
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi34 – 407Combined sources
Turni42 – 443Combined sources
Beta strandi46 – 483Combined sources
Helixi50 – 578Combined sources
Turni60 – 645Combined sources
Beta strandi65 – 7511Combined sources
Beta strandi76 – 794Combined sources
Helixi80 – 9213Combined sources
Turni93 – 953Combined sources
Turni97 – 1004Combined sources
Beta strandi115 – 1173Combined sources
Beta strandi122 – 1287Combined sources
Beta strandi130 – 1334Combined sources
Beta strandi135 – 1373Combined sources
Beta strandi139 – 1479Combined sources
Beta strandi152 – 1565Combined sources
Helixi157 – 17014Combined sources
Beta strandi172 – 18110Combined sources
Helixi184 – 20017Combined sources
Beta strandi208 – 21710Combined sources
Turni222 – 2243Combined sources
Helixi229 – 24012Combined sources
Helixi248 – 26013Combined sources
Beta strandi261 – 2688Combined sources
Helixi274 – 2785Combined sources
Helixi286 – 2883Combined sources
Helixi291 – 30515Combined sources
Turni307 – 3093Combined sources
Helixi322 – 33716Combined sources
Beta strandi338 – 3414Combined sources
Helixi347 – 37529Combined sources
Beta strandi377 – 3804Combined sources
Helixi384 – 40421Combined sources
Helixi410 – 43829Combined sources
Helixi443 – 4464Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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. Positions 31-442.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8WXF7.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini64 – 309246GB1/RHD3-type GAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni448 – 558111Sufficient for membrane associationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili412 – 43928Sequence analysisAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431D → E.1 Publication
Corresponds to variant rs17850684 [ dbSNP | Ensembl ].
VAR_058963
Natural varianti66 – 661E → Q in HSN1D; shows no significant changes in GTPase activity and no changes in endoplasmic reticulum morphology. 1 Publication
Corresponds to variant rs200314808 [ dbSNP | Ensembl ].
VAR_065508
Natural varianti118 – 1181R → Q in SPG3. 1 Publication
Corresponds to variant rs606231265 [ dbSNP | Ensembl ].
VAR_071874
Natural varianti154 – 1541Q → E in SPG3. 1 Publication
VAR_067655
Natural varianti157 – 1571L → W in SPG3. 1 Publication
Corresponds to variant rs119476051 [ dbSNP | Ensembl ].
VAR_065509
Natural varianti161 – 1611A → P in SPG3; affects endoplasmic reticulum and Golgi morphology. 2 Publications
VAR_019446
Natural varianti193 – 1931F → C.1 Publication
Corresponds to variant rs17850683 [ dbSNP | Ensembl ].
VAR_058964
Natural varianti196 – 1961Y → C in a patient with hereditary spastic paraplegia; unknown pathological significance; no effect on homodimerization and GTPase activity. 2 Publications
VAR_067656
Natural varianti217 – 2171R → Q in SPG3; abolishes homodimerization and GTPase activity and alters endoplasmic reticulum morphology. 3 Publications
Corresponds to variant rs119476049 [ dbSNP | Ensembl ].
VAR_017146
Natural varianti239 – 2391R → C in SPG3; affects endoplasmic reticulum and Golgi morphology. 4 Publications
Corresponds to variant rs119476046 [ dbSNP | Ensembl ].
VAR_017147
Natural varianti247 – 2471H → P in SPG3. 1 Publication
VAR_019447
Natural varianti253 – 2531V → I in SPG3. 2 Publications
VAR_067657
Natural varianti258 – 2581H → R in SPG3. 1 Publication
Corresponds to variant rs119476048 [ dbSNP | Ensembl ].
VAR_017148
Natural varianti259 – 2591S → Y in SPG3. 1 Publication
Corresponds to variant rs119476047 [ dbSNP | Ensembl ].
VAR_017149
Natural varianti355 – 3551N → K in HSN1D; the mutant protein has decreased GTPase activity compared to wild-type and causes disruption of endoplasmic reticulum network morphology. 1 Publication
VAR_065510
Natural varianti408 – 4081M → V in SPG3. 1 Publication
Corresponds to variant rs28939094 [ dbSNP | Ensembl ].
VAR_065511
Natural varianti413 – 4131F → V in SPG3. 1 Publication
VAR_067658
Natural varianti415 – 4151R → Q in SPG3. 1 Publication
Corresponds to variant rs397514712 [ dbSNP | Ensembl ].
VAR_071708
Natural varianti415 – 4151R → W in SPG3. 3 Publications
Corresponds to variant rs119476050 [ dbSNP | Ensembl ].
VAR_065512
Natural varianti416 – 4161R → C in SPG3. 1 Publication
Corresponds to variant rs387906941 [ dbSNP | Ensembl ].
VAR_071709
Natural varianti436 – 4361Missing 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 Publication
VAR_065513
Natural varianti440 – 4401N → T in SPG3. 1 Publication
VAR_067659
Natural varianti495 – 4951R → W in SPG3; affects endoplasmic reticulum and Golgi morphology. 3 Publications
VAR_067660

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei518 – 5225Missing in isoform 2. 1 PublicationVSP_044864

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
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. Positions 31-442.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiQ8WXF7.
PhosphoSiteiQ8WXF7.
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.
GeneCardsiATL1.
GeneReviewsiATL1.
HGNCiHGNC:11231. ATL1.
HPAiHPA027550.
MalaCardsiATL1.
MIMi182600. phenotype.
606439. gene.
613708. phenotype.
neXtProtiNX_Q8WXF7.
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: September 7, 2016
This is version 136 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.