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    HSPA12A heat shock protein family A (Hsp70) member 12A [ Homo sapiens (human) ]

    Gene ID: 259217, updated on 14-Nov-2024

    Summary

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    Official Symbol
    HSPA12Aprovided by HGNC
    Official Full Name
    heat shock protein family A (Hsp70) member 12Aprovided by HGNC
    Primary source
    HGNC:HGNC:19022
    See related
    Ensembl:ENSG00000165868 MIM:610701; AllianceGenome:HGNC:19022
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable ATP binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 23.0), fat (RPKM 11.2) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HSPA12A in Genome Data Viewer
    Location:
    10q25.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (116671192..116850747, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (117565518..117745047, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (118430703..118609233, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:118393650-118394849 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:118405699-118406228 Neighboring gene pancreatic lipase related protein 2 (gene/pseudogene) Neighboring gene Sharpr-MPRA regulatory region 10762 Neighboring gene HSPA12A antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118441833-118442334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118442335-118442834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118450610-118451348 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:118453631-118454602 Neighboring gene sperm microtubule inner protein 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:118501942-118502646 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:118502647-118503350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118526330-118526895 Neighboring gene uncharacterized LOC105378498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118534387-118534886 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:118538206-118539405 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:118544309-118544475 Neighboring gene ribosomal protein L5 pseudogene 27 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:118595447-118596082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4095 Neighboring gene microRNA 9851 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:118665638-118666837 Neighboring gene enolase 4 Neighboring gene shootin 1 Neighboring gene Sharpr-MPRA regulatory region 1976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2857 Neighboring gene VISTA enhancer hs841 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:118885664-118886164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118890627-118891154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118891155-118891681 Neighboring gene ventral anterior homeobox 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Heat-shock protein A12A attenuates oxygen-glucose deprivation/reoxygenation-induced human brain microvascular endothelial cell dysfunction via PGC-1alpha/SIRT3 pathway.
      Title: Heat-shock protein A12A attenuates oxygen-glucose deprivation/reoxygenation-induced human brain microvascular endothelial cell dysfunction via PGC-1α/SIRT3 pathway.
    2. HSPA12A was identified as a key driver in colorectal cancer GWAS loci 10q26.12 and modulated by an enhancer-promoter interaction.
      Title: HSPA12A was identified as a key driver in colorectal cancer GWAS loci 10q26.12 and modulated by an enhancer-promoter interaction.
    3. Alternative splicing of HSPA12A pre-RNA by SRSF11 contributes to metastasis potential of colorectal cancer.
      Title: Alternative splicing of HSPA12A pre-RNA by SRSF11 contributes to metastasis potential of colorectal cancer.
    4. Heat shock protein A12A activates migration of hepatocellular carcinoma cells in a monocarboxylate transporter 4-dependent manner.
      Title: Heat shock protein A12A activates migration of hepatocellular carcinoma cells in a monocarboxylate transporter 4-dependent manner.
    5. Heat-Shock protein A12A is a novel PCNA-binding protein and promotes hepatocellular carcinoma growth.
      Title: Heat-Shock protein A12A is a novel PCNA-binding protein and promotes hepatocellular carcinoma growth.
    6. HSPA12A unstabilizes CD147 to inhibit lactate export and migration in human renal cell carcinoma.
      Title: HSPA12A unstabilizes CD147 to inhibit lactate export and migration in human renal cell carcinoma.
    7. The genotype "A/G" of rs1665650 in HSPA12A gene was associated with a decreased risk of gastric cancer.
      Title: Polymorphisms of PRLHR and HSPA12A and risk of gastric and colorectal cancer in the Chinese Han population.
    8. High BCLC staging scores, advanced cirrhosis and the overexpression of HSPA12A and HSP90B1 might be associated with poor survival from HCC, whereas high levels of HSPA4, HSPA5 and HSPA6 might be associated with earlier recurrence of HCC
      Title: Upregulation of heat shock proteins (HSPA12A, HSP90B1, HSPA4, HSPA5 and HSPA6) in tumour tissues is associated with poor outcomes from HBV-related early-stage hepatocellular carcinoma.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.
    10. We found that HSPA12A is expressed in the human brain and shows a neuron- and region-specific transcript distribution, with strongest expression in the frontal and occipital cortical regions. HSPA12A Mrna was significantly reduced in schizophrenia.
      Title: Heat shock protein 12A shows reduced expression in the prefrontal cortex of subjects with schizophrenia.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.
    EBI GWAS Catalog
    Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
    EBI GWAS Catalog
    Genome-wide association study of smoking behaviours in patients with COPD.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13874, KIAA0417

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    heat shock 70 kDa protein 12A
    Names
    heat shock 70kD protein 12A
    heat shock 70kDa protein 12A
    heat shock protein family A member 12A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001330164.2 → NP_001317093.1  heat shock 70 kDa protein 12A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC016825, AC023283, AK294884, AL120441, BC041412, BM471679, DA416906, DC335324
      Consensus CDS
      CCDS81511.1
      UniProtKB/TrEMBL
      A0A1B0GTF3, A0A6I8PIW1
      Related
      ENSP00000489674.1, ENST00000635765.1
      Conserved Domains (1) summary
      cd11735
      Location:74 → 540
      HSPA12A_like_NBD; Nucleotide-binding domain of HSPA12A and similar proteins

    2. NM_025015.3 → NP_079291.2  heat shock 70 kDa protein 12A isoform 2

      See identical proteins and their annotated locations for NP_079291.2

      Status: VALIDATED

      Source sequence(s)
      AB007877, BU738372
      Consensus CDS
      CCDS41569.1
      UniProtKB/Swiss-Prot
      O43301
      UniProtKB/TrEMBL
      A0A6I8PIW1
      Related
      ENSP00000358211.3, ENST00000369209.8
      Conserved Domains (1) summary
      cd11735
      Location:57 → 523
      HSPA12A_like_NBD; Nucleotide-binding domain of HSPA12A and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      116671192..116850747 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269673.6 → XP_005269730.1  heat shock 70 kDa protein 12A isoform X1

      See identical proteins and their annotated locations for XP_005269730.1

      UniProtKB/TrEMBL
      A0A6I8PIW1, A0A6I8PLB1
      Related
      ENSP00000501472.1, ENST00000674197.1
      Conserved Domains (1) summary
      cd11735
      Location:73 → 539
      HSPA12A_like_NBD; Nucleotide-binding domain of HSPA12A and similar proteins

    2. XM_011539579.3 → XP_011537881.1  heat shock 70 kDa protein 12A isoform X1

      See identical proteins and their annotated locations for XP_011537881.1

      UniProtKB/TrEMBL
      A0A6I8PIW1, A0A6I8PLB1
      Conserved Domains (1) summary
      cd11735
      Location:73 → 539
      HSPA12A_like_NBD; Nucleotide-binding domain of HSPA12A and similar proteins

    3. XM_047424971.1 → XP_047280927.1  heat shock 70 kDa protein 12A isoform X2

      UniProtKB/TrEMBL
      A0A6I8PIT5
      Related
      ENSP00000501414.1, ENST00000674401.1

    4. XM_047424972.1 → XP_047280928.1  heat shock 70 kDa protein 12A isoform X3

      Related
      ENSP00000501346.1, ENST00000674344.1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791790.1 Reference GRCh38.p14 PATCHES

      Range
      82188..153562 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      117565518..117745047 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365431.1 → XP_054221406.1  heat shock 70 kDa protein 12A isoform X1

      UniProtKB/TrEMBL
      A0A6I8PLB1

    2. XM_054365432.1 → XP_054221407.1  heat shock 70 kDa protein 12A isoform X1

      UniProtKB/TrEMBL
      A0A6I8PLB1

    3. XM_054365433.1 → XP_054221408.1  heat shock 70 kDa protein 12A isoform X2

      UniProtKB/TrEMBL
      A0A6I8PIT5

    4. XM_054365434.1 → XP_054221409.1  heat shock 70 kDa protein 12A isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43301.2 GenPept UniProtKB/Swiss-Prot:O43301

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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