Seroatlas · Human Serome Atlas

HSPD1

60 kDa heat shock protein, mitochondrial

Also known as: CH60_HUMAN, GroEL, HSP60, SPG13

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

Protein identityUniProt · HPA

UniProt accession
P10809
Gene
HSPD1
Ensembl
ENSG00000144381
Chromosome
2
Canonical length
573 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Mitochondria
Quaternary structure
Homoheptamer

OverviewNCBI Gene

This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]

Canonical amino-acid sequenceUniProt

573 residues, UniProt reviewed canonical sequence.

>P10809|HSPD1
     1  MLRLPTVFRQ MRPVSRVLAP HLTRAYAKDV KFGADARALM LQGVDLLADA VAVTMGPKGR
    61  TVIIEQSWGS PKVTKDGVTV AKSIDLKDKY KNIGAKLVQD VANNTNEEAG DGTTTATVLA
   121  RSIAKEGFEK ISKGANPVEI RRGVMLAVDA VIAELKKQSK PVTTPEEIAQ VATISANGDK
   181  EIGNIISDAM KKVGRKGVIT VKDGKTLNDE LEIIEGMKFD RGYISPYFIN TSKGQKCEFQ
   241  DAYVLLSEKK ISSIQSIVPA LEIANAHRKP LVIIAEDVDG EALSTLVLNR LKVGLQVVAV
   301  KAPGFGDNRK NQLKDMAIAT GGAVFGEEGL TLNLEDVQPH DLGKVGEVIV TKDDAMLLKG
   361  KGDKAQIEKR IQEIIEQLDV TTSEYEKEKL NERLAKLSDG VAVLKVGGTS DVEVNEKKDR
   421  VTDALNATRA AVEEGIVLGG GCALLRCIPA LDSLTPANED QKIGIEIIKR TLKIPAMTIA
   481  KNAGVEGSLI VEKIMQSSSE VGYDAMAGDF VNMVEKGIID PTKVVRTALL DAAGVASLLT
   541  TAEVVVTEIP KEEKDPGMGA MGGMGGGMGG GMF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HSPD1 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)
0.28
Highest tissue expression
697 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 697 nTPM
  • liver: 433 nTPM
  • kidney: 350 nTPM
  • choroid plexus: 285 nTPM
  • pancreas: 207 nTPM
  • rectum: 183 nTPM

Single-cell type

  • pancreatic duct cells: 1,374 nCPM
  • syncytiotrophoblasts: 1,067 nCPM
  • cytotrophoblasts: 1,004 nCPM
  • pancreatic acinar cells: 912 nCPM
  • epididymal efferent duct absorptive cells: 834 nCPM
  • erythrocyte progenitors: 767 nCPM

Immune cell

  • myeloid DC: 85 nTPM
  • intermediate monocyte: 82 nTPM
  • naive CD4 T-cell: 81 nTPM
  • non-classical monocyte: 73 nTPM
  • MAIT T-cell: 72 nTPM
  • total PBMC: 71 nTPM

Brain region

  • choroid plexus: 158 nTPM
  • pons: 133 nTPM
  • cerebellum: 130 nTPM
  • cerebral cortex: 129 nTPM
  • thalamus: 119 nTPM
  • medulla oblongata: 119 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HSPD1.

Disease | AllUniProt

Conditions HSPD1 is implicated in, by any mechanism.

  • Spastic paraplegia 13, autosomal dominant (SPG13) MIM:605280
  • Leukodystrophy, hypomyelinating, 4 (HLD4) MIM:612233

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 358 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Hypomyelinating leukodystrophy 4
  • Hereditary spastic paraplegia 13
  • Leukodystrophy
  • HSPD1-related disorder

Disease | ImmuneIEDB

Conditions an epitope on HSPD1 was assayed in.

Disease | AutoantibodyPubMed

Conditions in which antibodies against HSPD1 are reported. Each links to that disease's full target list.

Showing 6 of 12 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for HSPD1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

104 publications

Show 20 more of 104 total

Reference: B cellIEDB

11 publications

Show 6 more

Reference: T cellIEDB

8 publications

Show 3 more

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)
0.27
gnomAD pLI
0.99
gnomAD missense Z
2.26
DepMap mean gene effect
-1.69
DepMap dependency class
pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 HSPD1 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 HSPD1 as an antibody target. Whether an autoantibody or antibody against HSPD1 could matter depends on whether native HSPD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HSPD1 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 HSPD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HSPD1. 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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