HEMK1 Gene
protein-coding GIFtS: 51
GCID: GC03P050606
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|
HemK methyltransferase family member 1
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Aliases
for HEMK1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| HemK Methyltransferase Family Member 11 2 | | M.HsaHemKP3 | | MTQ11 2 | | EC 2.1.1.-3 | | HEMK2 3 | | M.HsaHemKP3 | | HEMK Homolog 7kb2 | | |
Export aliases for HEMK1 gene to outside databasesPrevious GC identifer: GC03P050581 |
Summaries
for HEMK1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: HEMK1_HUMAN, Q9Y5R4Function: N5-glutamine methyltransferase responsible for the methylation of the GGQ triplet of the mitochondrialtranslation release factor MTRF1L
|
Genomic Views
for HEMK1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the HEMK1 gene promoter:
NF-1 AML1a HTF FOXD1 LCR-F1 GATA-1 PPAR-gamma1 COMP1 PPAR-gamma2 Zic3
Other transcription factors
Search SABiosciences Chromatin IP Primers for HEMK1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEMK1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p21.3 Ensembl cytogenetic band: 3p21.2 HGNC cytogenetic band: 3p21HEMK1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P050606: view genomic region
(about GC identifiers)
Start:
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50,606,583 bp from pter |
End:
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50,622,422 bp from pter |
Size:
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15,840 bases |
Orientation:
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plus strand |
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Proteins
for HEMK1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: HEMK1_HUMAN, Q9Y5R4 (See
protein sequence)Recommended Name: HemK methyltransferase family member 1 Size: 338 amino acids; 38231 Da
Subcellular location: MitochondrionExplore the universe of human proteins at neXtProt for HEMK1: NX_Q9Y5R4
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y5R4
HEMK1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_057257.1
ENSEMBL proteins: ENSP00000404843 ENSP00000232854 ENSP00000397966 ENSP00000404334 ENSP00000394027 ENSP00000404168
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005739 | mitochondrion |
IEA | -- |
HEMK1 for ontologies About GeneDecksing
HEMK1 Antibody Products:
Assay Products for HEMK1: |
Protein
Domains /
Families
for HEMK1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HEMK1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9Y5R4ProtoNet protein and cluster: Q9Y5R4 2 Blocks protein families: IPB002052 N-6 Adenine-specific DNA methylase IPB002296 N12 class N6 adenine-specific DNA methyltransferase signature
UniProtKB/Swiss-Prot: HEMK1_HUMAN, Q9Y5R4Similarity: Belongs to the protein N5-glutamine methyltransferase family |
Function
for HEMK1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: HEMK1_HUMAN, Q9Y5R4Function: N5-glutamine methyltransferase responsible for the methylation of the GGQ triplet of the mitochondrialtranslation release factor MTRF1LEnzyme Number (IUBMB): EC 2.1.1.-1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEMK1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEMK1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HEMK1 (NM_016173) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HEMK1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEMK1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEMK1 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003677 | DNA binding |
IEA | -- | | GO:0008170 | N-methyltransferase activity |
IEA | -- | | GO:0008276 | protein methyltransferase activity |
IEA | -- |
HEMK1 for ontologies About GeneDecksing
4 GenomeRNAi human phenotypes for HEMK1:
|
Pathways & Interactions
for HEMK1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Tyrosine metabolism | | | 2 | Histidine metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 
Kegg Pathways (Kegg details for HEMK1):
HEMK1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HEMK1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 9)
5/9 Interacting proteins for HEMK1 (Q9Y5R43 ENSP000002328544) via UniProtKB, MINT, STRING, and/or I2D (see all 9)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006306 | DNA methylation |
IEA | -- |
HEMK1 for ontologies About GeneDecksing
|
Drugs & Compounds
for HEMK1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for HEMK1
Search CenterWatch for drugs/clinical trials and news about HEMK1
|
Transcripts
for HEMK1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for HEMK1 gene: NM_016173.3 Unigene Clusters for HEMK1: HemK methyltransferase family member 1 Hs.517987 [show with all ESTs], Hs.599362 [show with all ESTs]Unigene Representative Sequences: NM_016173, AL1374667 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000434410 ENST00000232854(uc003dau.3 uc003dav.3) ENST00000448997
ENST00000455834 ENST00000482974 ENST00000424388 ENST00000443894
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEMK1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEMK1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: HEMK1 (NM_016173) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HEMK1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEMK1 |
Additional cDNA sequence: AF074992.1 AL137466.1 14 DOTS entries: DT.313880 DT.91743474 DT.309809 DT.40112791 DT.100840006 DT.99997729 DT.120896470 DT.436825 DT.100778542 DT.102831881 DT.120896473 DT.95069566 DT.99997730 DT.91859463 24/168 AceView cDNA sequences (see all 168): BQ183021 AA292772 AK025973 BU620766 AI079554 BU529084 AI143776 AI636442 AU099261 AA279011 CA308706 AA293435 BQ005588 AA731007 CR600760 AI915274 AI281191 AW629265 BG105120 AI452522 BC000781 AW003285 AK124369 AI338729
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for HEMK1 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b |
|---|
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| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | - | | - | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for HEMK1
|
Expression
for HEMK1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HEMK1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCTGCATTT
About this image
See HEMK1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HEMK1
SOURCE GeneReport for Unigene clusters: Hs.517987 Hs.599362
SABiosciences Custom PCR Arrays for HEMK1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HEMK1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HEMK1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEMK1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEMK1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEMK1 |
Orthologs
for HEMK1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for HEMK1 gene from 7/24 species (see all 24) About this table
ENSEMBL Gene Tree for HEMK1 (if available)
TreeFam Gene Tree for HEMK1 (if available) |
Paralogs
for HEMK1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for HEMK1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HEMK1 (50606583 - 50622422 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HEMK1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HEMK1 |
|
Disorders
/ Diseases
for HEMK1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HEMK1 for disorders About GeneDecksing
3  diseases for HEMK1: About MalaCardspneumonia tuberculosis mycobacterium tuberculosis
Human Genome Epidemiology (HuGE) Navigator: HEMK1 (1 document)
Export disorders for HEMK1 gene to outside databases
|
Publications
for HEMK1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for HEMK1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with HEMK1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Is the HemK family of putative S-adenosylmethionine-dependent methyltransferases a 'missing' zeta subfamily of adenine methyltransferases? A hypothesis. (PubMed id 10690633)1, 3, 9 Bujnicki J.M. and Radlinska M. (1999)
- The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC. (PubMed id 18541145)1, 2 Ishizawa T....Takeuchi N. (2008)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
|
External Searches for HEMK1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing HEMK1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HEMK1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HEMK1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for HEMK1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for HEMK1 gene:
Search GeneIP for patents involving HEMK1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for HEMK1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for HEMK1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HEMK1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HEMK1 | | | OriGene Protein Over-expression Lysate for HEMK1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for HEMK1 | | OriGene 3'-UTR Clone for HEMK1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEMK1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEMK1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for HEMK1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for HEMK1 | | OriGene Custom Protein Services for HEMK1 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HEMK1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HEMK1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEMK1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEMK1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEMK1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEMK1 |
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 |  |  |  | |
| | | | Search Tocris compounds for HEMK1 |
| |  |  |  |  | | | | |
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 | | | HEMK1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEMK1 |
|  |  |  | | | | ThermoFisher Antibody for HEMK1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEMK1 |
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