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. S... See more...

Aliases for HSPD1 Gene

Aliases for HSPD1 Gene

  • Heat Shock Protein Family D (Hsp60) Member 1 2 3 5
  • 60 KDa Heat Shock Protein, Mitochondrial 3 4
  • Heat Shock 60kDa Protein 1 (Chaperonin) 2 3
  • Mitochondrial Matrix Protein P1 3 4
  • P60 Lymphocyte Protein 3 4
  • 60 KDa Chaperonin 3 4
  • Chaperonin 60 3 4
  • HuCHA60 3 4
  • HSP-60 3 4
  • CPN60 3 4
  • HSP60 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Spastic Paraplegia 13 (Autosomal Dominant) 2
  • Heat Shock 60kD Protein 1 (Chaperonin) 2
  • Short Heat Shock Protein 60 Hsp60s1 3
  • Heat Shock Protein 65 3
  • Heat Shock Protein 60 4
  • EC 5.6.1.7 4
  • GROEL 3
  • HSP65 3
  • SPG13 3
  • Hsp60 4
  • HLD4 3

External Ids for HSPD1 Gene

Previous HGNC Symbols for HSPD1 Gene

  • SPG13

Previous GeneCards Identifiers for HSPD1 Gene

  • GC12M056909
  • GC02M197063
  • GC02M198315
  • GC02M198553
  • GC02M198176
  • GC02M198059
  • GC02M190203

Summaries for HSPD1 Gene

Entrez Gene Summary for HSPD1 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]

GeneCards Summary for HSPD1 Gene

HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1) is a Protein Coding gene. Diseases associated with HSPD1 include Leukodystrophy, Hypomyelinating, 4 and Spastic Paraplegia 13, Autosomal Dominant. Among its related pathways are Microglia Activation During Neuroinflammation: Overview and Apoptosis-related network due to altered Notch3 in ovarian cancer. Gene Ontology (GO) annotations related to this gene include ATPase activity. An important paralog of this gene is CCT6A.

UniProtKB/Swiss-Prot Summary for HSPD1 Gene

  • Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (PubMed:1346131, PubMed:11422376). The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein (Probable).

Gene Wiki entry for HSPD1 Gene

Additional gene information for HSPD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSPD1 Gene

Genomics for HSPD1 Gene

GeneHancer (GH) Regulatory Elements for HSPD1 Gene

Promoters and enhancers for HSPD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J197513 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.8 839 3.8 EP300 RXRA HNRNPK FOXK2 ZBTB40 ZNF217 TCF12 SIN3A MYC NRF1 MOB4 HSPD1 SF3B1 GTF3C3 NPM1P46 PLCL1 HSPE1-MOB4
GH02J197495 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 +17.1 17137 8 RXRA FOXK2 ZBTB40 ZNF217 EP300 SIN3A TCF12 MYC NRF1 POLR2G HSPE1 HSPE1-MOB4 NONHSAG030178.2 MOB4 HSPD1 SF3B1 GTF3C3 NPM1P46 RNU6-1029P ANKRD44
GH02J197451 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 +63.4 63359 4.2 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 POLR2G SP1 NCOR1 JUND COQ10B lnc-SF3B1-5 HSPE1 HSPD1 ENSG00000202434 BOLL ANKRD44 PLCL1
GH02J197460 Enhancer 0.7 Ensembl ENCODE 11.7 +55.8 55825 1.4 ZNF217 KLF4 FOXA2 FOS FOXA1 TAL1 ZBTB40 GATA3 TEAD4 SMARCE1 SF3B1 HSPE1 HSPD1 ENSG00000202434 MOB4 piR-52079-118 COQ10B
GH02J197477 Enhancer 0.7 Ensembl 12.2 +38.0 38036 2.2 REST ZNF316 NFIC MAFK SPI1 TAL1 POLR2A TCF12 DPF2 MAX HSPE1 HSPD1 RNU6-1029P SF3B1 ENSG00000202434 PLCL1 piR-30876-065 piR-52079-118
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSPD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSPD1

Top Transcription factor binding sites by QIAGEN in the HSPD1 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • STAT3

Genomic Locations for HSPD1 Gene

Genomic Locations for HSPD1 Gene
chr2:197,486,584-197,516,737
(GRCh38/hg38)
Size:
30,154 bases
Orientation:
Minus strand
chr2:198,351,305-198,381,461
(GRCh37/hg19)
Size:
30,157 bases
Orientation:
Minus strand

Genomic View for HSPD1 Gene

Genes around HSPD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPD1 Gene

Proteins for HSPD1 Gene

  • Protein details for HSPD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10809-CH60_HUMAN
    Recommended name:
    60 kDa heat shock protein, mitochondrial
    Protein Accession:
    P10809
    Secondary Accessions:
    • B2R5M6
    • B7Z712
    • Q38L19
    • Q9UCR6

    Protein attributes for HSPD1 Gene

    Size:
    573 amino acids
    Molecular mass:
    61055 Da
    Quaternary structure:
    • Homoheptamer arranged in a ring structure (PubMed:1346131, PubMed:11422376, PubMed:25918392). The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. Interacts with 2 heptameric Hsp10 rings to form the symmetrical football complex (PubMed:25918392). Interacts with HRAS (By similarity). Interacts with ATAD3A (PubMed:22664726). Interacts with ETFBKMT and METTL21B (PubMed:23349634). Interacts with MFHAS1 (PubMed:24286120).
    • (Microbial infection) Interacts with hepatits B virus/HBV protein X.
    • (Microbial infection) Interacts with HTLV-1 protein p40tax.

    Three dimensional structures from OCA and Proteopedia for HSPD1 Gene

    Alternative splice isoforms for HSPD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSPD1 Gene

Post-translational modifications for HSPD1 Gene

  • Ubiquitination at Lys31, Lys58, Lys72, Lys75, Lys82, Lys96, Lys125, Lys130, Lys133, Lys160, Lys191, Lys218, Lys233, Lys250, Lys292, Lys352, Lys469, and Lys481
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for HSPD1

No data available for DME Specific Peptides for HSPD1 Gene

Domains & Families for HSPD1 Gene

Gene Families for HSPD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for HSPD1 Gene

Suggested Antigen Peptide Sequences for HSPD1 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial heat shock 60kD protein 1 variant 1 (B3GQS7_HUMAN)
  • cDNA FLJ52281, highly similar to 60 kDa heat shock protein, mitochondrial (B7Z712_HUMAN)
  • 60 kDa chaperonin (B9VP19_HUMAN)
  • 60 kDa chaperonin (B9VP24_HUMAN)
  • 60 kDa chaperonin (B9VPB4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10809

UniProtKB/Swiss-Prot:

CH60_HUMAN :
  • Belongs to the chaperonin (HSP60) family.
Family:
  • Belongs to the chaperonin (HSP60) family.
genes like me logo Genes that share domains with HSPD1: view

Function for HSPD1 Gene

Molecular function for HSPD1 Gene

UniProtKB/Swiss-Prot Function:
Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (PubMed:1346131, PubMed:11422376). The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein (Probable).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(2)O + a folded polypeptide = ADP + phosphate + an unfolded polypeptide.; EC=5.6.1.7; Evidence=. ;.

Enzyme Numbers (IUBMB) for HSPD1 Gene

Phenotypes From GWAS Catalog for HSPD1 Gene

Gene Ontology (GO) - Molecular Function for HSPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001530 lipopolysaccharide binding IDA 17164250
GO:0002039 p53 binding IPI 18086682
GO:0003688 DNA replication origin binding ISS --
GO:0003697 single-stranded DNA binding ISS --
GO:0003723 RNA binding HDA 22658674
genes like me logo Genes that share ontologies with HSPD1: view
genes like me logo Genes that share phenotypes with HSPD1: view

Human Phenotype Ontology for HSPD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSPD1

Clone Products

  • Addgene plasmids for HSPD1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HSPD1 Gene

Localization for HSPD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPD1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSPD1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 5
plasma membrane 4
endosome 4
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HSPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 18229457
GO:0005737 cytoplasm IDA 21328542
GO:0005739 mitochondrion IEA,IDA 17823127
GO:0005743 mitochondrial inner membrane ISS --
GO:0005759 mitochondrial matrix IDA,TAS 17823127
genes like me logo Genes that share ontologies with HSPD1: view

Pathways & Interactions for HSPD1 Gene

genes like me logo Genes that share pathways with HSPD1: view

SIGNOR curated interactions for HSPD1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for HSPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002368 B cell cytokine production IDA 16148103
GO:0002755 MyD88-dependent toll-like receptor signaling pathway IDA 16148103
GO:0002842 positive regulation of T cell mediated immune response to tumor cell IDA 10663613
GO:0006357 regulation of transcription by RNA polymerase II TAS --
GO:0006457 protein folding IEA --
genes like me logo Genes that share ontologies with HSPD1: view

Drugs & Compounds for HSPD1 Gene

(49) Drugs for HSPD1 Gene - From: DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 236
Geldanamycin Experimental, Investigational Pharma Hsp90 inhibitor,potent and specific, Selective Hsp90 inhibitor 10
BIIB021 Investigational Pharma Hsp90 inhibitor,selective and competitive 0
AT13387 Pharma Hsp90 inhibitor 0
HSP990 (NVP-HSP990) Pharma 0

(54) Additional Compounds for HSPD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) ApexBio Compounds for HSPD1 Gene

Compound Action Cas Number
AT13387 Hsp90 inhibitor 912999-49-6
BIIB021 Hsp90 inhibitor,selective and competitive 848695-25-0
Geldanamycin Hsp90 inhibitor,potent and specific 30562-34-6
HSP990 (NVP-HSP990) 934343-74-5
VER-50589 747413-08-7
genes like me logo Genes that share compounds with HSPD1: view

Transcripts for HSPD1 Gene

mRNA/cDNA for HSPD1 Gene

2 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSPD1

Clone Products

  • Addgene plasmids for HSPD1

Alternative Splicing Database (ASD) splice patterns (SP) for HSPD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
SP1: - - -
SP2: - - -
SP3:
SP4:
SP5: - - - -
SP6: - - -
SP7: - -
SP8: -
SP9: -
SP10:
SP11: -
SP12:

Relevant External Links for HSPD1 Gene

GeneLoc Exon Structure for
HSPD1

Expression for HSPD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSPD1 Gene

mRNA differential expression in normal tissues according to GTEx for HSPD1 Gene

This gene is overexpressed in Adrenal Gland (x5.3).

Protein differential expression in normal tissues from HIPED for HSPD1 Gene

This gene is overexpressed in Adrenal (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSPD1 Gene



Protein tissue co-expression partners for HSPD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSPD1

SOURCE GeneReport for Unigene cluster for HSPD1 Gene:

Hs.595053

Evidence on tissue expression from TISSUES for HSPD1 Gene

  • Liver(5)
  • Nervous system(5)
  • Blood(4.9)
  • Lung(4.9)
  • Skin(4.9)
  • Heart(4.8)
  • Intestine(4.7)
  • Kidney(4.7)
  • Spleen(4.7)
  • Adrenal gland(4.6)
  • Stomach(4)
  • Muscle(3.9)
  • Eye(3.8)
  • Pancreas(3.4)
  • Lymph node(2.9)
  • Gall bladder(2.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
Thorax:
  • lung
Pelvis:
  • prostate
  • urethra
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with HSPD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for HSPD1 Gene

Orthologs for HSPD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSPD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSPD1 30
  • 99.94 (n)
oppossum
(Monodelphis domestica)
Mammalia HSPD1 31
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSPD1 31 30
  • 93.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HSPD1 31 30
  • 93.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hspd1 30
  • 91.19 (n)
mouse
(Mus musculus)
Mammalia Hspd1 17 31 30
  • 90.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HSPD1 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSPD1 31 30
  • 82.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSPD1 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hspd1 30
  • 77.84 (n)
Str.2924 30
zebrafish
(Danio rerio)
Actinopterygii hspd1 31 30
  • 74.47 (n)
OneToOne
-- 30
fruit fly
(Drosophila melanogaster)
Insecta CG7235 32
  • 72 (a)
Hsp60C 31
  • 71 (a)
OneToMany
Hsp60 31 32 30
  • 63.16 (n)
OneToMany
Hsp60B 31 32
  • 50 (a)
OneToMany
CG16954 32
  • 42 (a)
Hsp60D 31
  • 40 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004002 30
  • 62.6 (n)
worm
(Caenorhabditis elegans)
Secernentea hsp-60 31 30
  • 63.72 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HSP60 33 31 30
  • 60.54 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09449g 30
  • 59.31 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR155W 30
  • 57.81 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons HSP60 30
  • 62.64 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6802 30
soybean
(Glycine max)
eudicotyledons Gma.5022 30
rice
(Oryza sativa)
Liliopsida Os10g0462900 30
  • 61.68 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.2992 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8912 31
  • 67 (a)
OneToOne
Cin.4026 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mcp60 30
  • 58.03 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01589 30
  • 54.09 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4026 30
Species where no ortholog for HSPD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSPD1 Gene

ENSEMBL:
Gene Tree for HSPD1 (if available)
TreeFam:
Gene Tree for HSPD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSPD1: view image

Paralogs for HSPD1 Gene

Variants for HSPD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSPD1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
660104 Uncertain Significance: Spastic paraplegia 197,494,689(-) T/C MISSENSE_VARIANT
662118 Uncertain Significance: Spastic paraplegia 197,494,695(-) T/C MISSENSE_VARIANT
671556 Benign: not provided 197,494,303(-) G/C INTRON_VARIANT
676586 Likely Benign: not provided 197,498,741(-) G/A SYNONYMOUS_VARIANT
rs1050347 Benign: not specified; Spastic paraplegia, autosomal dominant 197,498,780(-) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for HSPD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HSPD1 Gene

Variant ID Type Subtype PubMed ID
nsv1014881 CNV gain 25217958
nsv1114161 CNV deletion 24896259
nsv963757 CNV duplication 23825009
nsv979161 CNV duplication 23825009

Variation tolerance for HSPD1 Gene

Residual Variation Intolerance Score: 30.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSPD1 Gene

Human Gene Mutation Database (HGMD)
HSPD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPD1 Gene

Disorders for HSPD1 Gene

MalaCards: The human disease database

(98) MalaCards diseases for HSPD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 4
  • hld4
spastic paraplegia 13, autosomal dominant
  • spg13
spastic paraplegia 13
  • spastic paraplegia 13, autosomal dominant
reactive arthritis
  • fiessinger leroy reiter syndrome
chlamydia
  • chlamydia trachomatis infectious disease
- elite association - COSMIC cancer census association via MalaCards
Search HSPD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CH60_HUMAN
  • Spastic paraplegia 13, autosomal dominant (SPG13) [MIM:605280]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:11898127}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leukodystrophy, hypomyelinating, 4 (HLD4) [MIM:612233]: A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation. Death usually occurs within the first two decades of life. {ECO:0000269 PubMed:18571143}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HSPD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HSPD1: view

No data available for Genatlas for HSPD1 Gene

Publications for HSPD1 Gene

  1. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. (PMID: 11898127) Hansen JJ … Bross P (American journal of human genetics 2002) 2 3 4 54
  2. Nucleotide sequences and novel structural features of human and Chinese hamster hsp60 (chaperonin) gene families. (PMID: 1980192) Venner TJ … Gupta RS (DNA and cell biology 1990) 2 3 4 54
  3. Crystal structure of the human mitochondrial chaperonin symmetrical football complex. (PMID: 25918392) Nisemblat S … Azem A (Proceedings of the National Academy of Sciences of the United States of America 2015) 3 4 54
  4. GTP binding controls complex formation by the human ROCO protein MASL1. (PMID: 24286120) Dihanich S … Lewis PA (The FEBS journal 2014) 3 4 54
  5. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PMID: 23349634) Cloutier P … Coulombe B (PLoS genetics 2013) 3 4 54

Products for HSPD1 Gene