full name
heat shock protein family D (Hsp60) member 1

synonyms
CPN60, GROEL, HLD4, HSP-60, HSP60, HSP65, HuCHA60, SPG13, HSPD1, ENSG00000144381

HGNC
HGNC:5261

Entrez Gene
Gene:3329

ENSEMBL
ENSG00000144381

location
chr: 2
start: 198351308
stop: 198364998
strand: -

OMIM
OMIM:118190: HSPD1 (Autosomal recessive inheritance)
OMIM:612233: Leukodystrophy, hypomyelinating, 4
OMIM:605280: Spastic paraplegia 13, autosomal dominant

transcripts
NM_199440.1
NM_002156.4

pathways
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
Legionellosis [NCBI:469200] [KEGG:hsa05134] [PUBMED:19021631] [PUBMED:19157961] [PUBMED:20375353] [PUBMED:19478083] [PUBMED:18284575] [PUBMED:19386084] [PUBMED:19666608] [PUBMED:15972519] [PUBMED:18549456] [PUBMED:1721820] [PUBMED:17124169] [PUBMED:19687203] [PUBMED:18363881] [PUBMED:19343209] [PUBMED:20941588] [PUBMED:16824952] [PUBMED:18281405] [PUBMED:18048909] [PUBMED:16495539] [PUBMED:12427954]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Mitochondrial protein import [NCBI:1268745] [REACTOME:R-HSA-1268020] [PUBMED:19720617] [PUBMED:20214493] [PUBMED:18174896] [PUBMED:17996737] [PUBMED:17998403] [PUBMED:17696772] [PUBMED:19453276] [PUBMED:19767391] [PUBMED:20100523]
RNA degradation [NCBI:117291] [KEGG:hsa03018] [PUBMED:16939780] [PUBMED:17560162] [PUBMED:17471261] [PUBMED:16968219] [PUBMED:16766188] [PUBMED:17447862] [PUBMED:19239894]
TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation [NCBI:1427844] [REACTOME:R-HSA-8869496] [PUBMED:1394192] [PUBMED:17318229] [PUBMED:9840932]
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors [NCBI:1427839] [REACTOME:R-HSA-8864260] [PUBMED:2010091] [PUBMED:11744733] [PUBMED:24469049] [PUBMED:23382213] [PUBMED:19798054] [PUBMED:9162057] [PUBMED:21084835] [PUBMED:22735262] [PUBMED:21375726] [PUBMED:14744778] [PUBMED:10648798] [PUBMED:26832794] [PUBMED:24835590] [PUBMED:9687504] [PUBMED:20805990] [PUBMED:10497269] [PUBMED:16420676] [PUBMED:12072434] [PUBMED:9850080] [PUBMED:9182571] [PUBMED:8988173] [PUBMED:1998122] [PUBMED:22371483] [PUBMED:15870067] [PUBMED:12586840] [PUBMED:8895516] [PUBMED:7891714] [PUBMED:11694877] [PUBMED:19115315] [PUBMED:15475956] [PUBMED:25114211]
Tuberculosis [NCBI:213780] [KEGG:hsa05152] [PUBMED:20199890] [PUBMED:21274449] [PUBMED:17359235] [PUBMED:20415982] [PUBMED:18541216] [PUBMED:19369951] [PUBMED:15083155] [PUBMED:11378475] [PUBMED:15228522] [PUBMED:19634703] [PUBMED:21274433] [PUBMED:19563525] [PUBMED:18407066] [PUBMED:18288961] [PUBMED:16200082] [PUBMED:17785780] [PUBMED:11932234]
Type I diabetes mellitus [NCBI:83095] [KEGG:hsa04940] [PUBMED:11507694] [PUBMED:8072542] [PUBMED:15889095] [PUBMED:15889096] [PUBMED:12796471] [PUBMED:14617043] [PUBMED:8786033] [PUBMED:9719467] [PUBMED:12752668]
Validated targets of C-MYC transcriptional activation [NCBI:169351] [Pathway Interaction Database:myc_activpathway] [PUBMED:18987359] [PUBMED:16537449] [PUBMED:9924025] [PUBMED:17643117] [PUBMED:8356088] [PUBMED:10688915] [PUBMED:1562593] [PUBMED:19020761] [PUBMED:10823814] [PUBMED:12637527] [PUBMED:9178906] [PUBMED:17967894] [PUBMED:15723053] [PUBMED:16508012] [PUBMED:8700224] [PUBMED:12091391] [PUBMED:20173740] [PUBMED:11522645] [PUBMED:15774466] [PUBMED:12776737] [PUBMED:12011429] [PUBMED:12138190] [PUBMED:10022128] [PUBMED:11511539] [PUBMED:12177005] [PUBMED:17599065] [PUBMED:6438521] [PUBMED:19745813] [PUBMED:8196628] [PUBMED:10891489] [PUBMED:8934531] [PUBMED:15723054] [PUBMED:9192621] [PUBMED:18042711] [PUBMED:10779353] [PUBMED:1989881] [PUBMED:8861962] [PUBMED:12529648] [PUBMED:16269333] [PUBMED:16172399] [PUBMED:8494784] [PUBMED:15282543] [PUBMED:8297793] [PUBMED:12776177] [PUBMED:9811896] [PUBMED:11103792] [PUBMED:17170079] [PUBMED:18593934] [PUBMED:11673469] [PUBMED:18408012] [PUBMED:1340466] [PUBMED:17088530] [PUBMED:8327497] [PUBMED:16423995] [PUBMED:12816956] [PUBMED:11598121] [PUBMED:14724288] [PUBMED:17848523] [PUBMED:10508165] [PUBMED:12695333] [PUBMED:17822678] [PUBMED:10606642] [PUBMED:9869632] [PUBMED:9212167] [PUBMED:19211792] [PUBMED:16287840] [PUBMED:18978814] [PUBMED:11511535] [PUBMED:15944709] [PUBMED:11604407] [PUBMED:11909865]