HELLS - helicase, lymphoid specific Gene

Homo sapiens

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

Gene ID: 3070 | Gene type: protein coding

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

HELLS Protein Structure

SNF2_N

Helicase_C

0
200
400
600
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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06115	HELLS Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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