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SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [ Homo sapiens (human) ]

Gene ID: 6594, updated on 3-Jun-2018
Official Symbol
SMARCA1provided by HGNC
Official Full Name
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1provided by HGNC
Primary source
HGNC:HGNC:11097
See related
Ensembl:ENSG00000102038 MIM:300012; Vega:OTTHUMG00000022370
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SWI; ISWI; SWI2; SNF2L; SNF2L1; SNF2LB; SNF2LT; hSNF2L; NURF140
Summary
This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Expression
Broad expression in adrenal (RPKM 46.7), testis (RPKM 43.0) and 22 other tissues See more
Orthologs
See SMARCA1 in Genome Data Viewer
Location:
Xq25-q26.1
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (129446501..129523564, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (128580478..128657490, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S26 pseudogene 56 Neighboring gene RNA, 5S ribosomal pseudogene 513 Neighboring gene OCRL, inositol polyphosphate-5-phosphatase Neighboring gene apelin

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ41547, DKFZp686D1623

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to DNA-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
annealing helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
helicase activity IEA
Inferred from Electronic Annotation
more info
 
nucleosome binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to nucleosome-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ATP-dependent chromatin remodeling IDA
Inferred from Direct Assay
more info
PubMed 
DNA strand renaturation IEA
Inferred from Electronic Annotation
more info
 
brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin remodeling IDA
Inferred from Direct Assay
more info
PubMed 
neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
CERF complex IDA
Inferred from Direct Assay
more info
PubMed 
NURF complex IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
probable global transcription activator SNF2L1
Names
ATP-dependent helicase SMARCA1
SNF2-like 1
global transcription activator homologous sequence
nucleosome-remodeling factor subunit SNF2L
sucrose nonfermenting 2-like protein 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012526.1 RefSeqGene

    Range
    4979..81983
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282874.1NP_001269803.1  probable global transcription activator SNF2L1 isoform d

    See identical proteins and their annotated locations for NP_001269803.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (d).
    Source sequence(s)
    BC143954, BQ006393, DR002115, HY043725
    Consensus CDS
    CCDS76019.1
    UniProtKB/TrEMBL
    B7ZLQ5
    Related
    ENSP00000360162.4, OTTHUMP00000275642, ENST00000371121.4, OTTHUMT00000476385
    Conserved Domains (1) summary
    cl26465
    Location:871069
    SNF2_N; SNF2 family N-terminal domain
  2. NM_001282875.1NP_001269804.1  probable global transcription activator SNF2L1 isoform c

    See identical proteins and their annotated locations for NP_001269804.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 4. It encodes isoform c, which lacks an internal segment and is shorter, compared to isoform d.
    Source sequence(s)
    BC117447, BC143955, BQ006393, DR002115, HY043725
    Consensus CDS
    CCDS76018.1
    UniProtKB/Swiss-Prot
    P28370
    UniProtKB/TrEMBL
    A0A0A0MRP6
    Related
    ENSP00000360164.2, OTTHUMP00000275641, ENST00000371123.5, OTTHUMT00000476384
    Conserved Domains (1) summary
    cl26465
    Location:871057
    SNF2_N; SNF2 family N-terminal domain
  3. NM_003069.4NP_003060.2  probable global transcription activator SNF2L1 isoform a

    See identical proteins and their annotated locations for NP_003060.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 3' UTR and uses two alternate splice sites in the 3' coding region, resulting in an early stop codon, compared to variant 4. It encodes isoform a, which has a shorter and distinct C-terminus, compared to isoform d.
    Source sequence(s)
    BC117447, BQ006393, DR002115, HY043725
    Consensus CDS
    CCDS14612.1
    UniProtKB/Swiss-Prot
    P28370
    Related
    ENSP00000360163.4, OTTHUMP00000023984, ENST00000371122.8, OTTHUMT00000058206
    Conserved Domains (1) summary
    cl26465
    Location:871046
    SNF2_N; SNF2 family N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    129446501..129523564 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262461.2XP_005262518.1  probable global transcription activator SNF2L1 isoform X1

    See identical proteins and their annotated locations for XP_005262518.1

    UniProtKB/Swiss-Prot
    P28370
    Conserved Domains (1) summary
    cl26465
    Location:871046
    SNF2_N; SNF2 family N-terminal domain
  2. XM_017029751.1XP_016885240.1  probable global transcription activator SNF2L1 isoform X4

    Conserved Domains (1) summary
    cl26465
    Location:871034
    SNF2_N; SNF2 family N-terminal domain
  3. XM_017029750.1XP_016885239.1  probable global transcription activator SNF2L1 isoform X3

    UniProtKB/Swiss-Prot
    P28370
    Conserved Domains (1) summary
    cl26465
    Location:871034
    SNF2_N; SNF2 family N-terminal domain
  4. XM_006724782.2XP_006724845.1  probable global transcription activator SNF2L1 isoform X3

    See identical proteins and their annotated locations for XP_006724845.1

    UniProtKB/Swiss-Prot
    P28370
    Conserved Domains (1) summary
    cl26465
    Location:871034
    SNF2_N; SNF2 family N-terminal domain
  5. XM_005262462.2XP_005262519.1  probable global transcription activator SNF2L1 isoform X2

    See identical proteins and their annotated locations for XP_005262519.1

    Conserved Domains (1) summary
    cl26465
    Location:871046
    SNF2_N; SNF2 family N-terminal domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_139035.2: Suppressed sequence

    Description
    NM_139035.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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