HELLS - helicase, lymphoid specific Gene

Also Known as LSH; ICF4; PASG; SMARCA6; Nbla10143

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3070

About HELLS

Cytogenetic location: 10q23.33 Genomic coordinates (GRCh38): 10:94,545,788-94,613,905 (from NCBI)

This gene has 21 transcripts (splice variants), 207 orthologues, 30 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 2.1), bone marrow (RPKM 1.7) and 22 other tissues.

Summary

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 encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]

HELLS Products (10)

mRNA	Protein	Name
NM_001289067.2	NP_001275996.1	lymphoid-specific helicase isoform 2
NM_001289068.2	NP_001275997.1	lymphoid-specific helicase isoform 3
NM_001289069.2	NP_001275998.1	lymphoid-specific helicase isoform 4
NM_001289070.2	NP_001275999.1	lymphoid-specific helicase isoform 5
NM_001289071.2	NP_001276000.1	lymphoid-specific helicase isoform 6
NM_001289072.2	NP_001276001.1	lymphoid-specific helicase isoform 7
NM_001289073.2	NP_001276002.1	lymphoid-specific helicase isoform 8
NM_001289074.2	NP_001276003.1	lymphoid-specific helicase isoform 9
NM_001289075.2	NP_001276004.1	lymphoid-specific helicase isoform 10
NM_018063.5	NP_060533.2	lymphoid-specific helicase isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22157815	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HELLS Protein Structure

SNF2_N

Helicase_C

0
200
400
600
800
838 a.a.

Protein Preferred Names	Protein Names
lymphoid-specific helicase	SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6

HELLS Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HELLS	Q9NRZ9	E2F3	Homo sapiens	O00716	Pull Down	22157815

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	ICF4 Icf Syndrome 4 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 4
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	Icf Syndrome Immunodeficiency Syndrome, Variable Ciid Centromeric Instability, Immunodeficiency Syndrome Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16 Icf
Bloom Syndrome	BLM Bs Bls Bloom-Torre-Machacek Syndrome Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1 Mgrisce1 Congenital Telangiectatic Erythema Congenital Telangiectatic Erythema Syndrome Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability Bloom'S Syndrome Bsyn
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Atr-X Syndrome ATRX Alpha-Thalassemia/Mental Retardation Syndrome Atr-X Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type Atr, Nondeletion Type Alpha-Thalassemia Mental Retardation Syndrome X-Linked Alpha Thalassemia Mental Retardation Syndrome Alpha-Thalassemia/Intellectual Disability Syndrome, X-Linked Atr Nondeletion Type Thalassemia, Alpha/Mental Retardation Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked Alpha Thalassemia-Mental Retardation Syndrome
Cockayne Syndrome	Cockayne'S Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Neill-Dingwall Syndrome Progeria-Like Syndrome Progeroid Nanism Cs
Werner Syndrome	Werner'S Syndrome WRN Adult Progeria Ws Adult Premature Ageing Syndrome Adult Premature Aging Syndrome Werners Syndrome
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Rothmund-Thomson Syndrome, Type 2	Rothmund-Thomson Syndrome Rts RTS2 Poikiloderma Of Rothmund-Thomson Rothmund-Thomson Syndrome Type 2 Congenital Poikiloderma Poikiloderma Congenitale Poikiloderma Atrophicans And Cataract Poikiloderma Congenitale Of Rothmund-Thomson Poikiloderma Of Rothmund-Thomson Type 2 Rothmund-Thomson Syndrome 2 Erythrokeratodermia Variabilis
Japanese Encephalitis	Japanese B Encephalitis Je Encephalitis Japanese Encephalitis, Japanese Russian Autumnal Encephalitis Je - [Japanese Encephalitis] Japanese Encephalitis Virus Disease Jbe - [Japanese B Encephalitis} B Type Encephalitis
Rapadilino Syndrome	Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate Radial And Patellar Aplasia Radial And Patellar Hypoplasia RAPADILINOS
Chronic Progressive External Ophthalmoplegia	Progressive External Ophthalmoplegia Cpeo Peo Ophthalmoplegia, Chronic Progressive External Ophthalmoplegia, External, Progressive, Chronic Graefe Disease Peo - [Progressive External Ophthalmoplegia] Ophthalmoplegia Plus Syndrome
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Hepatic Venoocclusive Disease With Immunodeficiency	VODI Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome Hepatic Veno-Occlusive Disease With Immunodeficiency Familial Veno-Occlusive Disease With Immunodeficiency Veno-Occlusive Disease And Immunodeficiency Syndrome Vodi Syndrome Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06115	HELLS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20035	Hells Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26538	Hells Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HELLS	VGNC	VGNC:29805
Rattus norvegicus	HELLS	RGD	RGD:1309820
Mus musculus	HELLS	MGD	MGI:106209
Felis catus	HELLS	VGNC	VGNC:67552
Macaca mulatta	HELLS	VGNC	VGNC:73362
Canis familiaris	HELLS	VGNC	VGNC:41649