Seroatlas · Human Serome Atlas

ACD

Adrenocortical dysplasia protein homolog

Also known as: ACD_HUMAN, Pip1, Ptop, Tint1, Tpp1

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

Protein identityUniProt · HPA

UniProt accession
Q96AP0
Gene
ACD
Ensembl
ENSG00000102977
Chromosome
16
Canonical length
458 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nuclear bodies

OverviewNCBI Gene

This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

458 residues, UniProt reviewed canonical sequence.

>Q96AP0|ACD
     1  MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
    61  SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
   121  DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
   181  HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
   241  GPCQRTQGPE LPPPDPALQD LSLTLIASPP SSPSSSGTPA LPGHMSSEES GTSISLLPAL
   301  SLAAPDPGQR SSSQPSPAIC SAPATLTPRS PHASRTPSSP LQSCTPSLSP RSHVPSPHQA
   361  LVTRPQKPSL EFKEFVGLPC KNRPPFPRTG ATRGAQEPCS VWEPPKRHRD GSAFQYEYEP
   421  PCTSLCARVQ AVRLPPQLMA WALHFLMDAQ PGSEPTPM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACD 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.55
Highest tissue expression
22 nTPM

Expression across tissuesHPA

Tissue

  • testis: 22 nTPM
  • ovary: 19 nTPM
  • cerebellum: 17 nTPM
  • cervix: 17 nTPM
  • blood vessel: 17 nTPM
  • endometrium: 16 nTPM

Single-cell type

  • late spermatids: 90 nCPM
  • oocytes: 78 nCPM
  • late primary spermatocytes: 56 nCPM
  • early primary spermatocytes: 55 nCPM
  • early spermatids: 48 nCPM
  • migrating cytotrophoblasts: 32 nCPM

Immune cell

  • memory B-cell: 47 nTPM
  • NK-cell: 44 nTPM
  • gdT-cell: 42 nTPM
  • T-reg: 41 nTPM
  • naive B-cell: 39 nTPM
  • memory CD4 T-cell: 38 nTPM

Brain region

  • thalamus: 13 nTPM
  • pons: 13 nTPM
  • medulla oblongata: 13 nTPM
  • white matter: 13 nTPM
  • cerebral cortex: 12 nTPM
  • midbrain: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACD.

Disease | AllUniProt

Conditions ACD is implicated in, by any mechanism.

  • Dyskeratosis congenita, autosomal dominant, 6 (DKCA6) MIM:616553
  • Dyskeratosis congenita, autosomal recessive, 7 (DKCB7) MIM:616553

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 1,405 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Dyskeratosis congenita, autosomal dominant 6
  • Dyskeratosis congenita, autosomal recessive 7

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)
1.19
gnomAD pLI
0
gnomAD missense Z
-0.49
DepMap mean gene effect
-0.37
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

  • Shelterin complex subunit TPP1/Est3
  • Adrenocortical dysplasia protein
  • Shelterin complex subunit, TPP1/ACD

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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