Seroatlas · Human Serome Atlas

ATN1

Atrophin-1

Also known as: ATN1_HUMAN, B37, D12S755E, DRPLA

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

Protein identityUniProt · HPA

UniProt accession: P54259
Gene: ATN1
Ensembl: ENSG00000111676
Chromosome: 12
Canonical length: 1190 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

1190 residues, UniProt reviewed canonical sequence.

>P54259|ATN1
     1  MKTRQNKDSM SMRSGRKKEA PGPREELRSR GRASPGGVST SSSDGKAEKS RQTAKKARVE
    61  EASTPKVNKQ GRSEEISESE SEETNAPKKT KTEQELPRPQ SPSDLDSLDG RSLNDDGSSD
   121  PRDIDQDNRS TSPSIYSPGS VENDSDSSSG LSQGPARPYH PPPLFPPSPQ PPDSTPRQPE
   181  ASFEPHPSVT PTGYHAPMEP PTSRMFQAPP GAPPPHPQLY PGGTGGVLSG PPMGPKGGGA
   241  ASSVGGPNGG KQHPPPTTPI SVSSSGASGA PPTKPPTTPV GGGNLPSAPP PANFPHVTPN
   301  LPPPPALRPL NNASASPPGL GAQPLPGHLP SPHAMGQGMG GLPPGPEKGP TLAPSPHSLP
   361  PASSSAPAPP MRFPYSSSSS SSAAASSSSS SSSSSASPFP ASQALPSYPH SFPPPTSLSV
   421  SNQPPKYTQP SLPSQAVWSQ GPPPPPPYGR LLANSNAHPG PFPPSTGAQS TAHPPVSTHH
   481  HHHQQQQQQQ QQQQQQQQQQ QQHHGNSGPP PPGAFPHPLE GGSSHHAHPY AMSPSLGSLR
   541  PYPPGPAHLP PPHSQVSYSQ AGPNGPPVSS SSNSSSSTSQ GSYPCSHPSP SQGPQGAPYP
   601  FPPVPTVTTS SATLSTVIAT VASSPAGYKT ASPPGPPPYG KRAPSPGAYK TATPPGYKPG
   661  SPPSFRTGTP PGYRGTSPPA GPGTFKPGSP TVGPGPLPPA GPSGLPSLPP PPAAPASGPP
   721  LSATQIKQEP AEEYETPESP VPPARSPSPP PKVVDVPSHA SQSARFNKHL DRGFNSCARS
   781  DLYFVPLEGS KLAKKRADLV EKVRREAEQR AREEKERERE REREKERERE KERELERSVK
   841  LAQEGRAPVE CPSLGPVPHR PPFEPGSAVA TVPPYLGPDT PALRTLSEYA RPHVMSPGNR
   901  NHPFYVPLGA VDPGLLGYNV PALYSSDPAA REREREARER DLRDRLKPGF EVKPSELEPL
   961  HGVPGPGLDP FPRHGGLALQ PGPPGLHPFP FHPSLGPLER ERLALAAGPA LRPDMSYAER
  1021  LAAERQHAER VAALGNDPLA RLQMLNVTPH HHQHSHIHSH LHLHQQDAIH AASASVHPLI
  1081  DPLASGSHLT RIPYPAGTLP NPLLPHPLHE NEVLRHQLFA APYRDLPASL SAPMSAAHQL
  1141  QAMHAQSAEL QRLALEQQQW LHAHHPLHSV PLPAQEDYYS HLKKESDKPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATN1 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.68
Highest tissue expression: 229 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 229 nTPM
ovary: 220 nTPM
pituitary gland: 177 nTPM
thyroid gland: 176 nTPM
colon: 143 nTPM
fallopian tube: 142 nTPM

Single-cell type

bergmann glia: 132 nCPM
astrocytes: 108 nCPM
pituicytes/fscs: 93 nCPM
fallopian secretory cells: 89 nCPM
leydig cells: 86 nCPM
ependymal cells: 80 nCPM

Immune cell

eosinophil: 0.7 nTPM
memory B-cell: 0.7 nTPM
gdT-cell: 0.6 nTPM
basophil: 0.5 nTPM
MAIT T-cell: 0.5 nTPM
naive B-cell: 0.5 nTPM

Brain region

cerebral cortex: 310 nTPM
cerebellum: 265 nTPM
medulla oblongata: 246 nTPM
hypothalamus: 228 nTPM
thalamus: 224 nTPM
amygdala: 223 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATN1.

Disease | AllUniProt

Conditions ATN1 is implicated in, by any mechanism.

Dentatorubral-pallidoluysian atrophy (DRPLA) MIM:125370
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) MIM:618494

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 381 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
Congenital ATN1 related disorder
ATN1-related disorder
Inborn genetic diseases
Dentatorubral-pallidoluysian atrophy

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): 0.19
gnomAD pLI: 1
gnomAD missense Z: 1.76
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 ATN1 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 ATN1 as an antibody target. Whether an autoantibody or antibody against ATN1 could matter depends on whether native ATN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATN1 is annotated at the cell surface, where native ATN1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ATN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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