Seroatlas · Human Serome Atlas

ASPSCR1

Tether containing UBX domain for GLUT4

Also known as: ASPC1_HUMAN, ASPL, ASPS, TUG, UBXD9, UBXN9

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

Protein identityUniProt · HPA

UniProt accession
Q9BZE9
Gene
ASPSCR1
Ensembl
ENSG00000169696
Chromosome
17
Canonical length
553 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Vesicles,Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]

Canonical amino-acid sequenceUniProt

553 residues, UniProt reviewed canonical sequence.

>Q9BZE9|ASPSCR1
     1  MAAPAGGGGS AVSVLAPNGR RHTVKVTPST VLLQVLEDTC RRQDFNPCEY DLKFQRSVLD
    61  LSLQWRFANL PNNAKLEMVP ASRSREGPEN MVRIALQLDD GSRLQDSFCS GQTLWELLSH
   121  FPQIRECLQH PGGATPVCVY TRDEVTGEAA LRGTTLQSLG LTGGSATIRF VMKCYDPVGK
   181  TPGSLGSSAS AGQAAASAPL PLESGELSRG DLSRPEDADT SGPCCEHTQE KQSTRAPAAA
   241  PFVPFSGGGQ RLGGPPGPTR PLTSSSAKLP KSLSSPGGPS KPKKSKSGQD PQQEQEQERE
   301  RDPQQEQERE RPVDREPVDR EPVVCHPDLE ERLQAWPAEL PDEFFELTVD DVRRRLAQLK
   361  SERKRLEEAP LVTKAFREAQ IKEKLERYPK VALRVLFPDR YVLQGFFRPS ETVGDLRDFV
   421  RSHLGNPELS FYLFITPPKT VLDDHTQTLF QANLFPAALV HLGAEEPAGV YLEPGLLEHA
   481  ISPSAADVLV ARYMSRAAGS PSPLPAPDPA PKSEPAAEEG ALVPPEPIPG TAQPVKRSLG
   541  KVPKWLKLPA SKR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASPSCR1 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
0
Mean surface accessibility (rSASA)
0.47
Highest tissue expression
59 nTPM

Expression across tissuesHPA

Tissue

  • liver: 59 nTPM
  • skeletal muscle: 44 nTPM
  • pituitary gland: 32 nTPM
  • testis: 30 nTPM
  • kidney: 28 nTPM
  • thyroid gland: 26 nTPM

Single-cell type

  • extravillous trophoblasts: 389 nCPM
  • late spermatids: 145 nCPM
  • cytotrophoblasts: 97 nCPM
  • myonuclei: 89 nCPM
  • hepatocytes: 72 nCPM
  • undifferentiated spermatogonia: 72 nCPM

Immune cell

  • basophil: 24 nTPM
  • myeloid DC: 15 nTPM
  • classical monocyte: 12 nTPM
  • non-classical monocyte: 11 nTPM
  • memory CD4 T-cell: 10 nTPM
  • plasmacytoid DC: 9.4 nTPM

Brain region

  • white matter: 37 nTPM
  • medulla oblongata: 36 nTPM
  • cerebral cortex: 33 nTPM
  • choroid plexus: 32 nTPM
  • pons: 32 nTPM
  • thalamus: 30 nTPM

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)
0.97
gnomAD pLI
0
gnomAD missense Z
0
DepMap mean gene effect
-0.14
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ASPSCR1 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 ASPSCR1 as an antibody target. Whether an autoantibody or antibody against ASPSCR1 could matter depends on whether native ASPSCR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASPSCR1 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 ASPSCR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ASPSCR1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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