Seroatlas · Human Serome Atlas

ATL1

Atlastin-1

Also known as: AD-FSP, ATLA1_HUMAN, FSP1, SPG3, SPG3A

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8WXF7
Gene: ATL1
Ensembl: ENSG00000198513
Chromosome: 14
Canonical length: 558 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Quaternary structure: Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

558 residues, UniProt reviewed canonical sequence.

>Q8WXF7|ATL1
     1  MAKNRRDRNS WGGFSEKTYE WSSEEEEPVK KAGPVQVLIV KDDHSFELDE TALNRILLSE
    61  AVRDKEVVAV SVAGAFRKGK SFLMDFMLRY MYNQESVDWV GDYNEPLTGF SWRGGSERET
   121  TGIQIWSEIF LINKPDGKKV AVLLMDTQGT FDSQSTLRDS ATVFALSTMI SSIQVYNLSQ
   181  NVQEDDLQHL QLFTEYGRLA MEETFLKPFQ SLIFLVRDWS FPYEFSYGAD GGAKFLEKRL
   241  KVSGNQHEEL QNVRKHIHSC FTNISCFLLP HPGLKVATNP NFDGKLKEID DEFIKNLKIL
   301  IPWLLSPESL DIKEINGNKI TCRGLVEYFK AYIKIYQGEE LPHPKSMLQA TAEANNLAAV
   361  ATAKDTYNKK MEEICGGDKP FLAPNDLQTK HLQLKEESVK LFRGVKKMGG EEFSRRYLQQ
   421  LESEIDELYI QYIKHNDSKN IFHAARTPAT LFVVIFITYV IAGVTGFIGL DIIASLCNMI
   481  MGLTLITLCT WAYIRYSGEY RELGAVIDQV AAALWDQGST NEALYKLYSA AATHRHLYHQ
   541  AFPTPKSEST EQSEKKKM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 2
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 56 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 56 nTPM
basal ganglia: 36 nTPM
hypothalamus: 28 nTPM
hippocampal formation: 27 nTPM
amygdala: 23 nTPM
cerebellum: 22 nTPM

Single-cell type

oligodendrocytes: 196 nCPM
other brain neurons: 171 nCPM
brain excitatory neurons: 160 nCPM
breast lactating cells: 152 nCPM
brain inhibitory neurons: 152 nCPM
oligodendrocyte progenitor cells: 133 nCPM

Immune cell

basophil: 13 nTPM
eosinophil: 3 nTPM
naive CD8 T-cell: 2.8 nTPM
gdT-cell: 1.2 nTPM
plasmacytoid DC: 1.1 nTPM
memory B-cell: 1 nTPM

Brain region

cerebral cortex: 56 nTPM
basal ganglia: 48 nTPM
pons: 44 nTPM
hypothalamus: 43 nTPM
hippocampal formation: 40 nTPM
white matter: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATL1.

Disease | AllUniProt

Conditions ATL1 is implicated in, by any mechanism.

Spastic paraplegia 3, autosomal dominant (SPG3) MIM:182600
Neuropathy, hereditary sensory, 1D (HSN1D) MIM:613708

Disease | GeneticClinVar

91 pathogenic / likely-pathogenic of 687 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hereditary spastic paraplegia 3A
Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 1D
Inborn genetic diseases
Spastic paraplegia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.31
gnomAD pLI: 0.98
gnomAD missense Z: 2.63
DepMap mean gene effect: -0.11
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ATL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ATL1 as an antibody target. Whether an autoantibody or antibody against ATL1 could matter depends on whether native ATL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ATL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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