Seroatlas · Human Serome Atlas

ATL3

Atlastin-3

Also known as: ATLA3_HUMAN, DKFZP564J0863

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

Protein identityUniProt · HPA

UniProt accession: Q6DD88
Gene: ATL3
Ensembl: ENSG00000184743
Chromosome: 11
Canonical length: 541 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Endoplasmic reticulum
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]

Canonical amino-acid sequenceUniProt

541 residues, UniProt reviewed canonical sequence.

>Q6DD88|ATL3
     1  MLSPQRVAAA ASRGADDAME SSKPGPVQVV LVQKDQHSFE LDEKALASIL LQDHIRDLDV
    61  VVVSVAGAFR KGKSFILDFM LRYLYSQKES GHSNWLGDPE EPLTGFSWRG GSDPETTGIQ
   121  IWSEVFTVEK PGGKKVAVVL MDTQGAFDSQ STVKDCATIF ALSTMTSSVQ IYNLSQNIQE
   181  DDLQQLQLFT EYGRLAMDEI FQKPFQTLMF LVRDWSFPYE YSYGLQGGMA FLDKRLQVKE
   241  HQHEEIQNVR NHIHSCFSDV TCFLLPHPGL QVATSPDFDG KLKDIAGEFK EQLQALIPYV
   301  LNPSKLMEKE INGSKVTCRG LLEYFKAYIK IYQGEDLPHP KSMLQATAEA NNLAAAASAK
   361  DIYYNNMEEV CGGEKPYLSP DILEEKHCEF KQLALDHFKK TKKMGGKDFS FRYQQELEEE
   421  IKELYENFCK HNGSKNVFST FRTPAVLFTG IVALYIASGL TGFIGLEVVA QLFNCMVGLL
   481  LIALLTWGYI RYSGQYRELG GAIDFGAAYV LEQASSHIGN STQATVRDAV VGRPSMDKKA
   541  Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATL3 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): 0.3
Highest tissue expression: 64 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 64 nTPM
testis: 35 nTPM
adipose tissue: 31 nTPM
smooth muscle: 31 nTPM
colon: 26 nTPM
urinary bladder: 25 nTPM

Single-cell type

late spermatids: 1,114 nCPM
early spermatids: 319 nCPM
esophageal apical cells: 172 nCPM
alveolar cells type 1: 149 nCPM
monocyte progenitors: 145 nCPM
vascular smooth muscle cells: 114 nCPM

Immune cell

non-classical monocyte: 14 nTPM
intermediate monocyte: 11 nTPM
MAIT T-cell: 9.8 nTPM
T-reg: 9.3 nTPM
gdT-cell: 8.9 nTPM
myeloid DC: 8.6 nTPM

Brain region

choroid plexus: 48 nTPM
medulla oblongata: 44 nTPM
white matter: 43 nTPM
spinal cord: 37 nTPM
midbrain: 36 nTPM
basal ganglia: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATL3.

Disease | AllUniProt

Conditions ATL3 is implicated in, by any mechanism.

Neuropathy, hereditary sensory, 1F (HSN1F) MIM:615632

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 549 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neuropathy, hereditary sensory, type 1F

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): 0.9
gnomAD pLI: 0
gnomAD missense Z: 1.15
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 ATL3 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 ATL3 as an antibody target. Whether an autoantibody or antibody against ATL3 could matter depends on whether native ATL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATL3 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 ATL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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