Entity Details

Primary name SMAL1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NZC9
EntryNameSMAL1_HUMAN
FullNameSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
TaxID9606
Evidenceevidence at protein level
Length954
SequenceStatuscomplete
DateCreated2005-03-01
DateModified2021-06-02

Ontological Relatives

GenesSMARCAL1

GO terms

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GOName
GO:0004386 helicase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006281 DNA repair
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006974 cellular response to DNA damage stimulus
GO:0031297 replication fork processing
GO:0035861 site of double-strand break
GO:0036310 ATP-dependent DNA/DNA annealing activity
GO:0043596 nuclear replication fork
GO:0048478 replication fork protection
GO:0070615 nucleosome-dependent ATPase activity
GO:0090656 t-circle formation

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000330 SNF2, N-terminalDomainDomain
IPR001650 Helicase, C-terminalDomainDomain
IPR010003 HARP domainDomainDomain
IPR014001 Helicase superfamily 1/2, ATP-binding domainDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR030101 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1FamilyFamily
IPR038718 SNF2-like, N-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
242900 OMIMSchimke immuno-osseous dysplasia (SIOD)An autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case. The disease is caused by variants affecting the gene represented in this entry.