Seroatlas · Human Serome Atlas

APPL1

DCC-interacting protein 13-alpha

Also known as: APPL, DP13A_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9UKG1
Gene
APPL1
Ensembl
ENSG00000157500
Chromosome
3
Canonical length
709 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Vesicles,Plasma membrane,Actin filaments,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

709 residues, UniProt reviewed canonical sequence.

>Q9UKG1|APPL1
     1  MPGIDKLPIE ETLEDSPQTR SLLGVFEEDA TAISNYMNQL YQAMHRIYDA QNELSAATHL
    61  TSKLLKEYEK QRFPLGGDDE VMSSTLQQFS KVIDELSSCH AVLSTQLADA MMFPITQFKE
   121  RDLKEILTLK EVFQIASNDH DAAINRYSRL SKKRENDKVK YEVTEDVYTS RKKQHQTMMH
   181  YFCALNTLQY KKKIALLEPL LGYMQAQISF FKMGSENLNE QLEEFLANIG TSVQNVRREM
   241  DSDIETMQQT IEDLEVASDP LYVPDPDPTK FPVNRNLTRK AGYLNARNKT GLVSSTWDRQ
   301  FYFTQGGNLM SQARGDVAGG LAMDIDNCSV MAVDCEDRRY CFQITSFDGK KSSILQAESK
   361  KDHEEWICTI NNISKQIYLS ENPEETAARV NQSALEAVTP SPSFQQRHES LRPAAGQSRP
   421  PTARTSSSGS LGSESTNLAA LSLDSLVAPD TPIQFDIISP VCEDQPGQAK AFGQGGRRTN
   481  PFGESGGSTK SETEDSILHQ LFIVRFLGSM EVKSDDHPDV VYETMRQILA ARAIHNIFRM
   541  TESHLLVTCD CLKLIDPQTQ VTRLTFPLPC VVLYATHQEN KRLFGFVLRT SSGRSESNLS
   601  SVCYIFESNN EGEKICDSVG LAKQIALHAE LDRRASEKQK EIERVKEKQQ KELNKQKQIE
   661  KDLEEQSRLI AASSRPNQAS SEGQFVVLSS SQSEESDLGE GGKKRESEA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against APPL1 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)
0.38
Highest tissue expression
41 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 41 nTPM
  • pancreas: 28 nTPM
  • tongue: 25 nTPM
  • parathyroid gland: 24 nTPM
  • heart muscle: 23 nTPM
  • ovary: 19 nTPM

Single-cell type

  • sertoli cells: 247 nCPM
  • pancreatic acinar cells: 221 nCPM
  • myonuclei: 214 nCPM
  • monocyte progenitors: 163 nCPM
  • neutrophil progenitors: 155 nCPM
  • esophageal suprabasal cells: 142 nCPM

Immune cell

  • naive B-cell: 28 nTPM
  • memory B-cell: 18 nTPM
  • plasmacytoid DC: 18 nTPM
  • myeloid DC: 11 nTPM
  • NK-cell: 7.4 nTPM
  • classical monocyte: 5.3 nTPM

Brain region

  • cerebellum: 26 nTPM
  • hypothalamus: 23 nTPM
  • spinal cord: 21 nTPM
  • white matter: 21 nTPM
  • thalamus: 20 nTPM
  • midbrain: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about APPL1.

Disease | AllUniProt

Conditions APPL1 is implicated in, by any mechanism.

  • Maturity-onset diabetes of the young 14 (MODY14) MIM:616511

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 273 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Maturity-onset diabetes of the young type 14

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)
0.35
gnomAD pLI
0.8
gnomAD missense Z
0.72
DepMap mean gene effect
-0.06
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 APPL1 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 APPL1 as an antibody target. Whether an autoantibody or antibody against APPL1 could matter depends on whether native APPL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

APPL1 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 APPL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/APPL1. 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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