SMARCAL1 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 Gene

Homo sapiens

Also known as HARP; HHARP

Gene ID: 50485 | Gene type: protein coding

About SMARCAL1

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:216,412,484-216,483,053 (from NCBI)

This gene has 27 transcripts (splice variants), 194 orthologues, 30 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 7.5), testis (RPKM 7.2) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]

SMARCAL1 Products(2)

mRNA	Protein	Name
NM_001127207.2	NP_001120679.1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
NM_014140.4	NP_054859.2	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP-dependent DNA/DNA annealing activity	IDA IDA: Inferred from direct assay	22705370	GOA
enables ATP-dependent DNA/DNA annealing activity	IMP IMP: Inferred from mutant phenotype	18974355	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19793862	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IMP IMP: Inferred from mutant phenotype	19793862	GOA
involved in double-strand break repair via nonhomologous end joining	IMP IMP: Inferred from mutant phenotype	26089390	GOA
involved in regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	18974355	GOA
involved in replication fork processing	IMP IMP: Inferred from mutant phenotype	19793862	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of DNA replication factor A complex	IDA IDA: Inferred from direct assay	19793862	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18974355	GOA
located in site of double-strand break	IDA IDA: Inferred from direct assay	19793862	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

SMARCAL1 Protein Structure

HARP

SNF2_N

Helicase_C

0
200
400
600
800
954 a.a.

Protein Preferred Names

Protein Names

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1

ATP-driven annealing helicase

SMARCAL1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SMARCAL1	Q9NZC9	RPA2	Homo sapiens	P15927	NMR	24910198
Intra	SMARCAL1	Q9NZC9	RPA2	Homo sapiens	P15927	ITC	24910198
Intra	SMARCAL1	Q9NZC9	RPA2	Homo sapiens	P15927	TAP	24981860

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Schimke Immunoosseous Dysplasia

Schimke Immuno-Osseous Dysplasia	SIOD
Immunoosseous Dysplasia, Schimke Type	Schimke Syndrome
Immunoosseous Dysplasia Schimke Type	Spondyloepiphyseal Dysplasia - Nephrotic Syndrome
Spondyloepiphyseal Dysplasia Nephrotic Syndrome	Spondyloepiphyseal Dysplasia-Nephrotic Syndrome

Atrioventricular Septal Defect

AVSD	Atrioventricular Canal Defect
Avcd	Endocardial Cushion Defect
Ecd	Avc Defect
Atrioventricular Septal Defect, Susceptibility To, 1	Atrioventricular Septal Defect 1
Endocardial Cushion Defects	Septal Defect, Atrioventricular
Atrioventricular Defect With Atrial Shunting Only	Incomplete Atrioventricular Septal Defect With Isolated Atrial Component
Incomplete Atrioventricular Canal Defect With Isolated Atrial Component	Primum Atrial Septal Defect
Partial Atrioventricular Canal Defect With Isolated Atrial Component	Partial Atrioventricular Septal Defect, Ostium Primum Type
Ostium Primum Atrial Septal Defect	Partial Atrioventricular Canal Defect
Partial Atrioventricular Septal Defect	Atrial Septum Primum Defect
Atrioventricular Canal Defect With Isolated Ventricular Component	Atrioventricular Canal Defect With Isolated Ventricular Communication
Atrioventricular Septal Defect With Isolated Ventricular Component	Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting
Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve	Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves
Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect	Intermediate Atrioventricular Canal Defect
Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices	Intermediate Atrioventricular Septal Defect
Transitional Atrioventricular Canal Defect	Transitional Atrioventricular Septal Defect
Complete Atrioventricular Canal With Atrial And Ventricular Components	Complete Atrioventricular Canal Defect
Complete Atrioventricular Septal Defect

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal Glomerulosclerosis
Fsgs	Segmental Glomerulosclerosis
Glomerulosclerosis, Focal Segmental	Fgs
Focal Glomerular Sclerosis	Familial Idiopathic Nephrotic Syndrome
Focal Sclerosis With Hyalinosis	Glomerulosclerosis, Focal
Glomerulosclerosis Focal	Glomerulosclerosis, Segmental, Focal
Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Immuno-Osseous Dysplasia

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

D-Minus Hemolytic Uremic Syndrome

Atypical Hus	Atypical Hemolytic Uremic Syndrome
Hus, Atypical	Ahus

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia	Chst3-Related Skeletal Dysplasia
Humerospinal Dysostosis	Spondyloepiphyseal Dysplasia, Omani Type
Chondrodysplasia With Multiple Dislocations	SEDCJD
Hsd	Cdmd
Humero-Spinal Dysostosis	Kozlowski Celermajer Tink Syndrome
Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type	Larsen Syndrome, Recessive Type
Humero-Spinal Dysostosis With Congenital Heart Disease	Omani Type
Sed	Chst3 Deficiency
Chst3-Related Dysplasia	Recessive Larsen Syndrome
Autosomal Recessive Larsen Syndrome	Sed With Luxations, Chst3 Type
Sed, Omani Type	Sdcd, Chst3 Type
Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type	Sed Omani Type
Spondyloepiphyseal Dysplasia Omani Type	Larsen Syndrome, Autosomal Recessive
Mucopolysaccharidosis Iv	Spondyloepiphyseal Dysplasia, Congenita

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To
Ahus	AHUS1
Hemolytic-Uremic Syndrome	Ahus 1
Ahus, Susceptibility To, 1	Hemolytic Uremic Syndrome, Atypical
Non-Shiga-Like Toxin-Associated Hus	Non-Stx-Hus
Nonenteropathic Hus	Atypical Hus
Shiga Toxin-Associated Hemolytic Uremic Syndrome	D+ Hus
Ehec-Hus	Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli
Hemolytic Uremic Syndrome With Diarrhea	Stec-Hus
Shiga-Like Toxin-Associated Hus	Stx-Hus
Typical Hus	Typical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies	Atypical Hus With Anti-Factor H Antibodies
Ahus With Anti-Factor H Antibodies	Ahus With Neutralizing Autoantibodies Against Factor H
Hemolytic Uremic Syndrome Atypical 1	Atypical Hemolytic Uremic Syndrome With H Factor Anomaly
D Hus	Hemolytic-Uremic Syndrome Without Diarrhea
Hemolytic-Uremic Syndrome, Atypical, Type 1	Hemolytic Uremic Syndrome, Typical

T Cell Deficiency

T Cell Immunodeficiency	T Lymphocyte Deficiency
T Lymphocyte Immunodeficiency	T-Lymphocyte Deficiency

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Frasier Syndrome

Bone Development Disease

Galloway-Mowat Syndrome

Galloway Mowat Syndrome	Galloway Syndrome
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type	Microcephaly Nephrosis Syndrome
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Nephrosis Neuronal Dysmigration Syndrome
Microcephaly-Hiatus Hernia-Nephrotic Syndrome	Nephrosis-Neuronal Dysmigration Syndrome

Denys-Drash Syndrome

Drash Syndrome	DDS
Nephropathy, Wilms Tumor, And Genital Anomalies	Wilms Tumor And Pseudohermaphroditism
Wilms Tumor And Pseudo- Or True Hermaphroditism	Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor
Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor	Wilms Tumor-Dsd Syndrome
Wilms Tumor-Disorder Of Sex Development Syndrome

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Immune Deficiency Disease

Immunodeficiency	Primary Immunodeficiency
Primary Immunodeficiency Disease	Immunologic Deficiency Syndromes
Hypoimmunity	Immune Deficiency Disorder
Immunodeficiency Syndrome	Immune Disorder
Primary Immune Deficiency Disorder	Immune System Diseases
Human Immunodeficiency Virus Infection	Hiv - [Human Immunodeficiency Virus Infection]
Hiv Positive Nos	Hiv Disease
Acquired Immune Deficiency Syndrome-Related Complex	Aids-Like Syndrome
Aids-Related Complex Nos	Arc - [Aids-Related Complex]
Immunodeficiency Due To Human Immunodeficiency Virus Infection	Unspecified Human Immunodeficiency Virus Disease
Hiv Disease Nos	Human Immunodeficiency Virus Positive Nos
Hiv Nos	Deficiency Of Complement Initial Pathway
Deficiency Of Complement Terminal Pathway	Cfdd - [Complement Factor D Deficiency]
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency	Nonfamilial Hypogammaglobulinaemia
Common Variable Immune Deficiency	Nonfamilial Agammaglobulinaemia
Common Variable Agammaglobulinaemia	Agammaglobulinaemia Nos
Agammaglobulinaemia Antibody Deficiency Syndrome	Hypogammaglobulinaemia Antibody Deficiency Syndrome
Acquired Agammaglobulinaemia Nos	Hypogammaglobulinaemia Nos
Hyper Igm

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

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

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-RS13408	SMARCAL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SMARCAL1	VGNC	VGNC:34990
Macaca mulatta	SMARCAL1	VGNC	VGNC:77650
Mus musculus	SMARCAL1	MGD	MGI:1859183
Felis catus	SMARCAL1	VGNC	VGNC:65467
Rattus norvegicus	SMARCAL1	RGD	RGD:1306134
Canis familiaris	SMARCAL1	VGNC	VGNC:46533

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