Gene table of HSPD1 : heat shock protein family D (Hsp60) member 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HSPD1	OMIM link	Number of associated genes	genes
PS312080	LEUKODYSTROPHY, HYPOMYELINATING	ClinVar, OMIM, HUMSAVAR	link to OMIM	13	PYCR2, POLR3B, HIKESHI, AIMP1, GJC2, POLR3A, VPS11, PLP1, HSPD1, POLR1C, FAM126A, RARS, TUBB4A
PS303350	SPASTIC PARAPLEGIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	47	KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ARL6IP1, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, VPS37A, L1CAM, TFG, RTN2, CYP7B1, ERLIN2, KIF1A, AP4M1, AMPD2, SPAST, SPG20, AP4S1, HSPD1, SPG21, PLP1, REEP1, ALDH18A1, TECPR2, BSCL2, PNPLA6, SPG7, CYP2U1, NT5C2, NIPA1, DDHD1, CPT1C, ZFYVE27, AP4B1, FA2H

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Annotation of the gene HSPD1

Associated genes in ENSEMBL

ENSG00000144381

Associated proteins - SwissProt Accession ID

P10809

Associated PDB IDs

4pj1

Cytogenetic Band

2q33.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

RUNX3

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Type I diabetes mellitus	hsa04940	6.79
Tuberculosis	hsa05152	5.17
RNA degradation	hsa03018	6.48
Legionellosis	hsa05134	6.88

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Mitochondrial protein import	R-HSA-1268020	7.28
Metabolism of proteins	R-HSA-392499	3.41

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ubiquitin-like protein ligase binding	GO:0044389	4.15
nucleic acid binding	GO:0003676	1.44
purine ribonucleoside triphosphate binding	GO:0035639	2.22
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
pyrophosphatase activity	GO:0016462	3.04
chaperone binding	GO:0051087	5.34
unfolded protein binding	GO:0051082	5.13
nucleotide binding	GO:0000166	1.96
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
double-stranded DNA binding	GO:0003690	3.09
single-stranded DNA binding	GO:0003697	5.17
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
poly(A) RNA binding	GO:0044822	2.69
nucleoside-triphosphatase activity	GO:0017111	3.09
lipid binding	GO:0008289	3.26
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
lipopolysaccharide binding	GO:0001530	6.69
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
ubiquitin protein ligase binding	GO:0031625	4.17
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
DNA replication origin binding	GO:0003688	7.54
double-stranded RNA binding	GO:0003725	5.58
adenyl ribonucleotide binding	GO:0032559	2.41
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
p53 binding	GO:0002039	5.53
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19