SMARCAD1 - SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 Gene

Homo sapiens

Also known as HRZ; ETL1; HEL1; ADERM; BASNS

Gene ID: 56916 | Gene type: protein coding

About SMARCAD1

Cytogenetic location: 4q22.3 Genomic coordinates (GRCh38): 4:94,207,608-94,291,292 (from NCBI)

This gene has 8 transcripts (splice variants), 229 orthologues, 30 paralogues and is associated with 6 phenotypes. Ubiquitous expression in thyroid (RPKM 8.6), testis (RPKM 7.8) and 25 other tissues.

Summary

This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

SMARCAD1 Products(9)

mRNA	Protein	Name
NM_001128429.3	NP_001121901.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform a
NM_001128430.2	NP_001121902.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform a
NM_001254949.2	NP_001241878.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform c
NM_001375855.1	NP_001362784.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform b
NM_001375856.1	NP_001362785.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform b
NM_001375857.1	NP_001362786.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform d
NM_001375858.1	NP_001362787.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform e
NM_001375859.1	NP_001362788.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform f
NM_020159.5	NP_064544.2	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP-dependent chromatin remodeler activity	IMP IMP: Inferred from mutant phenotype	22960744	GOA
enables DNA binding	IDA IDA: Inferred from direct assay	18675275	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18675275	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA double-strand break processing	IMP IMP: Inferred from mutant phenotype	22960744	GOA
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	22960744	GOA
involved in chromosome separation	IMP IMP: Inferred from mutant phenotype	21549307	GOA
involved in regulation of DNA recombination	IEP IEP: Inferred from expression pattern	11031099	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nuclear replication fork	IDA IDA: Inferred from direct assay	21549307	GOA
located in site of double-strand break	IDA IDA: Inferred from direct assay	22960744	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

SMARCAD1 Protein Structure

SNF2_N

Helicase_C

0
200
400
600
800
1026 a.a.

Protein Preferred Names

Protein Names

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1

ATP-dependent helicase 1

Related Diseases

Diseases

Alias

Adermatoglyphia

ADERM	Immigration Delay Disease
Absence Of Fingerprints	Adg
Congenital Absence Of Fingerprints	Isolated Congenital Adermatoglyphia
Fingerprints, Absence Of	Skin Abnormalities

Basan Syndrome

Adermatoglyphia With Congenital Facial Milia And Acral Blisters, Digital Contractures, And Nail Abnormalities	Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes In Nails, And Simian Crease
Baird Syndrome	Absence Of Fingerprints-Congenital Milia Syndrome
Absence Of Fingerprints Congenital Milia	Absence Of Dermatoglyphics Congenital Milia
Absence Of Dermatoglyphics-Congenital Milia Syndrome	Basan-Baird Syndrome
BSNS	Adermatoglyphia, Congenital Facial Milia, Acral Blisters, Digital Contractures, Nail Abnormalities

Huriez Syndrome

Sclerotylosis	Keratoderma With Scleroatrophy Of The Extremities
HRZ	Scleroatrophic And Keratotic Dermatosis Of Limbs
Palmoplantar Keratoderma-Sclerodactyly Syndrome	Atrophic Fibrosis Of The Skin Of The Limbs, Hypoplasia Of Nails, And Keratodermia Of The Palms And Soles
Palmoplantar Hyperkeratosis-Sclerodactyly Syndrome	Scleroatrophic 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-RS13407	SMARCAD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SMARCAD1	VGNC	VGNC:65466
Mus musculus	SMARCAD1	MGD	MGI:95453
Rattus norvegicus	SMARCAD1	RGD	RGD:1309640
Canis familiaris	SMARCAD1	VGNC	VGNC:46532
Bos taurus	SMARCAD1	VGNC	VGNC:34989
Macaca mulatta	SMARCAD1	VGNC	VGNC:77734

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