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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HELLS Gene

protein-coding GIFtS: 60
GCID: GC10P096305

helicase, lymphoid-specific

Explore 58 diseases affiliated with
HELLS via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Helicase, Lymphoid-Specific¹ ²		Nbla10143¹
PASG¹ ² ³		Lymphoid-Specific Helicase²
SMARCA6¹ ² ³		SWI/SNF2-Related, Matrix-Associated, Actin-Dependent Regulator Of Chromatin, Subfamily A, Member 6²
LSH¹ ² ⁵		EC 3.6.4.-³
Proliferation-Associated SNF2-Like Protein² ³		EC 3.6.1⁸
SWI/SNF2-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily A Member 6² ³

External Ids:	HGNC: 4861¹	Entrez Gene: 3070²	Ensembl: ENSG00000119969⁷	OMIM: 603946⁵	UniProtKB: Q9NRZ9³

Export aliases for HELLS gene to outside databases

Previous GC identifers: GC10P095198 GC10P095539 GC10P096436 GC10P095970 GC10P096295 GC10P096261 GC10P089932

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HELLS:

This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation,

including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular

proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants have been described,

but their biological validity has not been determined. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: HELLS_HUMAN, Q9NRZ9

Function: Plays an essential role in normal development and survival. Involved in regulation of the expansion or

survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the

imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin,

implying a functional role in the regulation of transcription and mitosis (By similarity)

Gene Wiki entry for HELLS

(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_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HELLS gene promoter:
HOXA9B HOXA9 FOXF2 NF-YA NF-YB CBF-A CBF-B CP1A NF-Y CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HELLS promoter sequence

Search SABiosciences Chromatin IP Primers for HELLS

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HELLS

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24.2 Ensembl cytogenetic band: 10q23.33 HGNC cytogenetic band: 10q24.2

HELLS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HELLS gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P096305: view genomic region (about GC identifiers)

Start:	96,305,547 bp from pter	End:	96,373,662 bp from pter
Size:	68,116 bases	Orientation:	plus strand

(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: HELLS_HUMAN, Q9NRZ9 (See protein sequence)

Recommended Name: Lymphoid-specific helicase

Size: 838 amino acids; 97074 Da

Subcellular location: Nucleus (By similarity). Note=Closely associated with pericentric heterochromatin (By similarity)

Sequence caution: Sequence=AAG01987.1; Type=Erroneous initiation; Sequence=AAH29381.1; Type=Erroneous initiation;

Sequence=AAH30963.1; Type=Erroneous initiation; Sequence=AAH31004.1; Type=Erroneous initiation;

Secondary accessions: B2RB41 Q3LID1 Q6I7N7 Q76H76 Q76H77 Q76H78 Q76H79 Q76H80 Q76H81 Q7Z397 Q7Z5X2

Q8N6P4 Q9H4P5

Alternative splicing: 9 isoforms: Q9NRZ9-1 Q9NRZ9-2 Q9NRZ9-3 Q9NRZ9-4 Q9NRZ9-5 Q9NRZ9-6 Q9NRZ9-7 Q9NRZ9-8

Q9NRZ9-9 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HELLS: NX_Q9NRZ9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NRZ9

4/9 DME Specific Peptides for HELLS (Q9NRZ9) (see all 9)

TGTPLQN

DSDWNPQ

GLGKTVQ

RCHRIGQ

HELLS Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_060533.2

ENSEMBL proteins:

ENSP00000409945 ENSP00000239027 ENSP00000360378 ENSP00000377609 ENSP00000360383

ENSP00000377608 ENSP00000377601 ENSP00000239026

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: HELLS OriGene Protein Over-expression Lysate: HELLS OriGene Custom Protein Services for HELLS
	GenScript Custom Purified and Recombinant Proteins Services for HELLS
	Novus Biologicals HELLS Protein Novus Biologicals HELLS Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for HELLS

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000775	chromosome, centromeric region	ISS	--
GO:0005634	nucleus	IEA	--
GO:0005721	centromeric heterochromatin	ISS	--

HELLS for ontologies About GeneDecksing

HELLS Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of HELLS
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for HELLS
	Browse OriGene Antibodies OriGene Custom Antibody Services for HELLS
	GenScript Custom Superior Antibodies Services for HELLS
	Novus Biologicals HELLS Antibodies
	Search for Antibodies for HELLS at Abcam
	Uscn Antibodies for HELLS
	ThermoFisher Antibody for HELLS

Assay Products for HELLS:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for HELLS
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for HELLS

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HELLS for domains About GeneDecksing

3 InterPro domains/families:

IPR000330 SNF2_N

IPR014001 Helicase_ATP-bd

IPR001650 Helicase_C

Graphical View of Domain Structure for InterPro Entry Q9NRZ9

ProtoNet protein and cluster: Q9NRZ9

1 Blocks protein family: IPB000330 SNF2 related domain

UniProtKB/Swiss-Prot: HELLS_HUMAN, Q9NRZ9

Similarity: Belongs to the SNF2/RAD54 helicase family

Similarity: Contains 1 helicase ATP-binding domain

Similarity: Contains 1 helicase C-terminal domain

(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: HELLS_HUMAN, Q9NRZ9

Function: Plays an essential role in normal development and survival. Involved in regulation of the expansion or

survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the

imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin,

implying a functional role in the regulation of transcription and mitosis (By similarity)

Induction: By concanavalin-A in peripheral blood leukocytes

Genatlas biochemistry entry for HELLS:

helicase lymphoid specific,expressed in early thymocytes and testis,SNF2/RAD54 family potentially involved in DNA

repair,homologous to S cerivisiae YFK8

Enzyme Numbers (IUBMB): EC 3.6.1² EC 3.6.4.-¹

miRNA Products:		miRTarBase miRNAs that target HELLS: hsa-mir-7 (MIRT004361)

		OriGene 3'-UTR Clone: HELLS Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HELLS
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate HELLS:
		hsa-miR-7 hsa-miR-3692
		SwitchGear 3'UTR luciferase reporter plasmid: HELLS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HELLS (see all 7) OriGene shRNA RFP: HELLS OriGene siRNA: HELLS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HELLS

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for HELLS

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 HELLS (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HELLS OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: HELLS (NM_018063)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HELLS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HELLS

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HELLS
		Search LifeMap BioReagents cell lines for HELLS

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HELLS

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003676	nucleic acid binding	--	--
GO:0003677	DNA binding	IEA	--
GO:0003682	chromatin binding	IEA	--
GO:0004386	helicase activity	IEA	--
GO:0005524	ATP binding	IEA	--

HELLS for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for HELLS: Hells^tm1Kmu Hells^tm1Rarc
     15 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Hells):

adipose tissue	behavior/neurological	cellular	embryogenesis	growth/size
hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail
mortality/aging	pigmentation	renal/urinary system	respiratory system	skeleton

HELLS for phenotypes About GeneDecksing

(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 - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

BRCA1 Pathway

BRCA1 Pathway

1.00

AMPK Enzyme Complex Pathway

AMPK Enzyme Complex Pathway

1.00

Chromatin Regulation / Acetylation

Chromatin Regulation / Acetylation

1.00

Apoptosis Modulation and Signaling

Apoptosis

0.38

Development_Ligand-dependent activation of the ESR1/AP-1 pathway

Chromatin Remodeling

0.30

Pathway sources
See GeneCards unified pathways
Show all pathways

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HELLS

	AMPK Enzyme Complex Pathway
	BRCA1 Pathway
	Glucocorticoid Receptor Signaling
	Chromatin Remodeling

1 Cell Signaling Technology (CST) Pathway for HELLS

Chromatin Regulation / Acetylation

1 BioSystems Pathway for HELLS

Apoptosis

HELLS for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for HELLS

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/760 Interacting proteins for HELLS (Q9NRZ9^{2, 3} ENSP00000239027⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 760)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HDAC1	Q13547²^,³, ENSP00000362649⁴	MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000362649
HDAC2	Q92769²^,³, ENSP00000381331⁴	MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000381331
MRE11A	P49959²^,³, ENSP00000325863⁴	MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000325863
SMARCAD1	Q9H4L7², ENSP00000351947⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000351947
CDC5L	Q99459², ENSP00000360532⁴	MINT-7945693 MINT-7947479 STRING: ENSP00000360532

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001655	urogenital system development	IEA	--
GO:0006306	DNA methylation	--	--
GO:0006342	chromatin silencing	--	--
GO:0006346	methylation-dependent chromatin silencing	ISS	--
GO:0006351	transcription, DNA-dependent	IEA	--

HELLS for ontologies About GeneDecksing

(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

HELLS for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HELLS
10/56 Novoseek chemical compound relationships for HELLS gene (see all 56) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
atp	72.9	114	8413273 (3), 19839642 (3), 11551790 (2), 19203580 (2) (see all 88)
8-hydroxyadenine	49.5	1	12060667 (1)
benzo(c)phenanthrene	40.3	4	12881525 (2), 16380375 (1)
amp-pnp	39.7	1	18022636 (1)
methylmethanesulfonate	38.9	5	12638184 (1), 11861900 (1), 15590327 (1), 19620285 (1)
ribavirin	37.8	2	15230850 (1)
hydroxyurea	36.5	3	15702347 (1), 10743562 (1)
oligonucleotide	33.6	12	10213622 (2), 12718544 (2), 16474403 (1), 15635154 (1) (see all 8)
adp	29.5	4	1702201 (1), 18022636 (1), 15585580 (1), 20028084 (1)
8-hydroxyguanine	29.4	1	12531019 (1)

Search CenterWatch for drugs/clinical trials and news about HELLS

(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 HELLS gene:

NM_018063.3

Unigene Cluster for HELLS:

Helicase, lymphoid-specific

Hs.655830 [show with all ESTs]

Unigene Representative Sequence: NM_018063

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000419900 ENST00000348459(uc001kjs.3 uc001kjt.3 uc009xul.3 uc009xum.3 uc009xun.3 uc009xuo.3 uc001kju.3 uc009xup.3 uc009xuq.3 uc009xur.3)

ENST00000462057 ENST00000466552 ENST00000371327 ENST00000464030 ENST00000475263

ENST00000394045 ENST00000371332 ENST00000394044 ENST00000394036 ENST00000239026

miRNA Products:		OriGene 3'-UTR Clone: HELLS Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HELLS
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate HELLS:
		hsa-miR-7 hsa-miR-3692
		SwitchGear 3'UTR luciferase reporter plasmid: HELLS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HELLS (see all 7) OriGene shRNA RFP: HELLS OriGene siRNA: HELLS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HELLS

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HELLS (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HELLS OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: HELLS (NM_018063)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HELLS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HELLS

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HELLS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat HELLS
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HELLS
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HELLS

Additional cDNA sequence:

AB074174.1 AB102716.1 AB102717.1 AB102718.1 AB102719.1 AB102720.1 AB102721.1 AB102722.1

AB102723.1 AB113248.1 AB113249.1 AF155827.1 AK001201.1 AK022928.1 AK308331.1 AK314485.1

AY007108.1 BC015477.1 BC029381.1 BC030963.1 BC031004.1 BC068440.1 BC105606.1 BC111789.1

BX538033.1

19 DOTS entries:

DT.209729 DT.97773184 DT.212909 DT.102842721 DT.97816950 DT.102842717 DT.121223801 DT.121223898

DT.102842722 DT.102842718 DT.102842719 DT.97835331 DT.121223777 DT.121223806 DT.95342751 DT.100017734

DT.102842720 DT.40122514 DT.95147875

24/194 AceView cDNA sequences (see all 194):

AB102721 AI033416 W81279 BU195354 N93682 AF155827 AB113249 AW960458

BQ214184 BC015477 AB102719 AI377912 AB102720 NM_018063 AA815186 AW613654

BQ422987 AI240837 BC029381 AB102716 AI240803 BU193985 AB102718 AA280047

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for HELLS (see all 9) About this scheme

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

ExUns:	14b	^	15	^	16	^	17	^	18	^	19
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for HELLS

(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

HELLS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGAGAGATT

About this image

HELLS expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

S-shaped Body

Kidney Endothelial Cells

Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See HELLS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HELLS

SOURCE GeneReport for Unigene cluster: Hs.655830

UniProtKB/Swiss-Prot: HELLS_HUMAN, Q9NRZ9

Tissue specificity: Highly expressed in proliferative tissues such as adult thymus and testis, and expressed at lower

levels in uterus, small intestine, colon, and peripheral blood mononuclear cells. Also expressed in neoplastic cell

lines including those derived from myeloid and lymphoid leukemias

SABiosciences Custom PCR Arrays for HELLS

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HELLS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat HELLS
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HELLS
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HELLS

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HELLS

(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 common ancestor of eukaryotes.

Orthologs for HELLS gene from 5/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	HELLS¹	helicase, lymphoid-specific	76.22(n) 82.53(a)		423750 XM_421626.3 XP_421626.2
African clawed frog (Xenopus laevis)	Amphibia	CA790941.1²	--	77.15(n)		CA790941.1
zebrafish (Danio rerio)	Actinopterygii	sbcb65²	sbcb65	73.98(n)		321071 AL728479.1
thale cress (Arabidopsis thaliana)	eudicotyledons	CHR1¹	chromatin remodeling 1	52.69(n) 46.15(a)		836808 NM_126073.2 NP_201476.1
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	SNF2 family N-terminal domain containing protein, ... SNF2 family N-terminal domain containing protein, ... (see all 3)	32(a) 32(a) (see all 3)	1 ↔ many 1 ↔ many (see all 3)	9(16460603-16466626) 3(29298460-29304766)

ENSEMBL Gene Tree for HELLS (if available)
TreeFam Gene Tree for HELLS (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(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

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs184634761^1,2		--	96303731(+)	`TACTTG/TTCAGG`	1	--	us2k¹		0	--	--	--	--
rs76879898^1,2	C,	--	96303787(+)	`CCTTTA/TTTCCC`	1	--	us2k¹		0	--	--	--	--
rs76614839^1,2	C,	--	96303796(+)	`CCATGG/TTTTTT`	1	--	us2k¹		0	--	--	--	--
rs117000366^1,2		--	96303844(+)	`GTAGCT/CTTATC`	1	--	us2k¹		1		EA	120
rs189473677^1,2		--	96304021(+)	`GCCTGC/TACTCT`	1	--	us2k¹		0	--	--	--	--
rs180879839^1,2		--	96304130(+)	`AAACAC/GACAAA`	1	--	us2k¹		0	--	--	--	--
rs185767002^1,2		--	96304142(+)	`ACCCCA/CAACCA`	1	--	us2k¹		0	--	--	--	--
rs191061274^1,2		--	96304259(+)	`CTGAGC/TCCAGG`	1	--	us2k¹		0	--	--	--	--
rs181147244^1,2		--	96304281(+)	`GCAGTC/GAGCAG`	1	--	us2k¹		0	--	--	--	--
rs185790037^1,2		--	96304432(+)	`ATCTCC/TGCTCA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for HELLS (96305547 - 96373662 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HELLS: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HELLS

DNA2.0 Custom Variant and Variant Library Synthesis for HELLS

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HELLS for disorders           About GeneDecksing

OMIM gene information: 603946    OMIM disorders: --

20/58 diseases for HELLS (see all 58):    About MalaCards

rothmund-thomson syndrome alpha-thalassemia/mental retardation syndrome autosomal dominant progressive external ophthalmoplegia ruptured abdominal aortic aneurysm

alpha thalassemia abdominal aortic aneurysm inclusion body myositis xeroderma pigmentosum

west nile virus aortic aneurysm mental retardation syndrome cockayne syndrome

fragile x syndrome hepatitis e ophthalmoplegia japanese encephalitis

ataxia telangiectasia yellow fever bloom syndrome herpes simplex

10/43 Novoseek disease relationships for HELLS gene (see all 43) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
werner syndrome	94.7	46	8976161 (2), 15084309 (2), 16503984 (2), 9012406 (1) (see all 40)
bloom syndrome	92.4	21	8976161 (1), 10924124 (1), 12351580 (1), 11283371 (1) (see all 21)
rothmund-thomson syndrome	90	9	18430459 (1), 18598796 (1), 18719387 (1), 11795503 (1) (see all 8)
cockayne syndrome	81.5	12	1339317 (1), 8976161 (1), 16167068 (1), 10660593 (1) (see all 11)
trichothiodystrophy	80.4	4	8976161 (1), 11062469 (1), 10660593 (1), 16973432 (1)
atr-x syndrome	79.1	3	9192813 (1), 9043863 (1), 16125058 (1)
xeroderma pigmentosum	77.2	17	8687116 (1), 8976161 (1), 16167068 (1), 18029358 (1) (see all 17)
group b cockayne syndrome	74	4	12531019 (2), 11867210 (1), 19580815 (1)
fanconis anemia	59.8	2	16973432 (2)
progressive external ophthalmoplegia	58.8	1	18971204 (1)

Human Genome Epidemiology (HuGE) Navigator: HELLS (1 document)

Export disorders for HELLS gene to outside databases

(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 HELLS gene, integrated from 9 sources (see all 597):
(articles sorted by number of sources associating them with HELLS)

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world of online information

Proliferation-associated SNF2-like gene (PASG): a SNF2 family member altered in leukemia. (PubMed id 10910076)^{1, 2, 3, 9} Lee D.W.... Arceci R.J. (2000)
Characterization of gene expression, genomic structure, and chromosomal localization of Hells (Lsh). (PubMed id 9878251)^{1, 3, 9} Geiman T.M....Muegge K. (1998)
Tumor-specific exon creation of the HELLS/SMARCA6 gene in non-small cell lung cancer. (PubMed id 15305370)^{1, 2} Yano M....Shimizu K. (2004)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma. (PubMed id 12880961)^{1, 2} Ohira M.... Nakagawara A. (2003)
Senescence delay and repression of p16INK4a by Lsh vi a recruitment of histone deacetylases in human diploid fibroblasts. (PubMed id 19561196)^{1, 9} Zhou R....Tong T. (2009)
Stable knockdown of PASG enhances DNA demethylation but does not accelerate cellular senescence in TIG-7 human fibroblasts. (PubMed id 18948754)^{1, 9} Suzuki T....Arceci R.J. (2008)
The SNF2-like helicase HELLS mediates E2F3-dependent t ranscription and cellular transformation. (PubMed id 22157815)¹ von Eyss B....Ziebold U. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3070	HGNC: 4861	AceView: HELLS	Ensembl:ENSG00000119969	euGenes: HUgn3070
ECgene: HELLS	H-InvDB: HELLS

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for HELLS	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for HELLS	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for HELLS gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for HELLS gene:
Search GeneIP for patents involving HELLS

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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),
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Antibodies & Assays for HELLS

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HELLS

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ThermoFisher Antibody for HELLS

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HELLS

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HELLS Gene

helicase, lymphoid-specific

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