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Protein

Probable global transcription activator SNF2L1

Gene

SMARCA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF (CECR2-containing-remodeling factor) complexes. Both complexes facilitate the perturbation of chromatin structure in an ATP-dependent manner. Potentiates neurite outgrowth. May be involved in brain development by regulating En-1 and En-2 expression. May be involved in the development of luteal cells.4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi208 – 215ATP8

GO - Molecular functioni

  • annealing helicase activity Source: UniProtKB
  • ATPase activity Source: InterPro
  • ATP binding Source: UniProtKB-KW
  • DNA binding Source: InterPro
  • helicase activity Source: ProtInc
  • nucleosome binding Source: InterPro
  • transcription factor binding Source: ParkinsonsUK-UCL

GO - Biological processi

  • ATP-dependent chromatin remodeling Source: MGI
  • brain development Source: HGNC
  • chromatin remodeling Source: HGNC
  • covalent chromatin modification Source: UniProtKB-KW
  • neuron differentiation Source: HGNC
  • positive regulation of transcription, DNA-templated Source: HGNC
  • transcription, DNA-templated Source: HGNC

Keywordsi

Molecular functionActivator, Chromatin regulator, Helicase, Hydrolase
Biological processTranscription, Transcription regulation
LigandATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Probable global transcription activator SNF2L1 (EC:3.6.4.-)
Alternative name(s):
ATP-dependent helicase SMARCA1
Nucleosome-remodeling factor subunit SNF2L
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 1
Gene namesi
Name:SMARCA1
Synonyms:SNF2L, SNF2L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000102038.15.
HGNCiHGNC:11097. SMARCA1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi214K → R: No effect on neurite outgrowth. 1 Publication1

Organism-specific databases

DisGeNETi6594.
OpenTargetsiENSG00000102038.
PharmGKBiPA35947.

Polymorphism and mutation databases

DMDMi115311627.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000743511 – 1054Probable global transcription activator SNF2L1Add BLAST1054

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei116PhosphoserineCombined sources1
Modified residuei119PhosphoserineCombined sources1
Cross-linki662Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki728Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki750Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei954Phosphotyrosine1 Publication1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP28370.
MaxQBiP28370.
PaxDbiP28370.
PeptideAtlasiP28370.
PRIDEiP28370.

PTM databases

iPTMnetiP28370.
PhosphoSitePlusiP28370.

Expressioni

Gene expression databases

BgeeiENSG00000102038.
CleanExiHS_SMARCA1.
ExpressionAtlasiP28370. baseline and differential.
GenevisibleiP28370. HS.

Organism-specific databases

HPAiHPA003335.
HPA064712.

Interactioni

Subunit structurei

Part of the nucleosome-remodeling factor (NURF) complex which consists of SMARCA1; BPTF; RBBP4 and RBBP7. Part of the CECR2-containing-remodeling factor (CERF) complex which contains CECR2 and SMARCA1. Interacts with PRLR.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BPTFQ128306EBI-2822460,EBI-1560273

GO - Molecular functioni

  • transcription factor binding Source: ParkinsonsUK-UCL

Protein-protein interaction databases

BioGridi112478. 41 interactors.
CORUMiP28370.
DIPiDIP-57685N.
IntActiP28370. 22 interactors.
MINTiMINT-2802155.
STRINGi9606.ENSP00000360163.

Structurei

3D structure databases

ProteinModelPortaliP28370.
SMRiP28370.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini195 – 360Helicase ATP-bindingAdd BLAST166
Domaini490 – 653Helicase C-terminalAdd BLAST164
Domaini855 – 907SANT 1Add BLAST53
Domaini958 – 1022SANT 2Add BLAST65

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi311 – 314DEAH box4

Sequence similaritiesi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0385. Eukaryota.
COG0553. LUCA.
GeneTreeiENSGT00900000141253.
HOVERGENiHBG056329.
InParanoidiP28370.
KOiK11727.
PhylomeDBiP28370.
TreeFamiTF300674.

Family and domain databases

CDDicd00079. HELICc. 1 hit.
cd00167. SANT. 1 hit.
InterProiView protein in InterPro
IPR020838. DBINO.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR009057. Homeobox-like_sf.
IPR029915. ISWI.
IPR015194. ISWI_HAND-dom.
IPR036306. ISWI_HAND-dom_sf.
IPR027417. P-loop_NTPase.
IPR001005. SANT/Myb.
IPR017884. SANT_dom.
IPR015195. SLIDE.
IPR000330. SNF2_N.
PANTHERiPTHR10799:SF819. PTHR10799:SF819. 1 hit.
PfamiView protein in Pfam
PF13892. DBINO. 1 hit.
PF09110. HAND. 1 hit.
PF00271. Helicase_C. 1 hit.
PF09111. SLIDE. 1 hit.
PF00176. SNF2_N. 1 hit.
SMARTiView protein in SMART
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00717. SANT. 2 hits.
SUPFAMiSSF101224. SSF101224. 1 hit.
SSF46689. SSF46689. 2 hits.
SSF52540. SSF52540. 2 hits.
PROSITEiView protein in PROSITE
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51293. SANT. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P28370-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEQDTAAVAA TVAAADATAT IVVIEDEQPG PSTSQEEGAA AAATEATAAT
60 70 80 90 100
EKGEKKKEKN VSSFQLKLAA KAPKSEKEMD PEYEEKMKAD RAKRFEFLLK
110 120 130 140 150
QTELFAHFIQ PSAQKSPTSP LNMKLGRPRI KKDEKQSLIS AGDYRHRRTE
160 170 180 190 200
QEEDEELLSE SRKTSNVCIR FEVSPSYVKG GPLRDYQIRG LNWLISLYEN
210 220 230 240 250
GVNGILADEM GLGKTLQTIA LLGYLKHYRN IPGPHMVLVP KSTLHNWMNE
260 270 280 290 300
FKRWVPSLRV ICFVGDKDAR AAFIRDEMMP GEWDVCVTSY EMVIKEKSVF
310 320 330 340 350
KKFHWRYLVI DEAHRIKNEK SKLSEIVREF KSTNRLLLTG TPLQNNLHEL
360 370 380 390 400
WALLNFLLPD VFNSADDFDS WFDTKNCLGD QKLVERLHAV LKPFLLRRIK
410 420 430 440 450
TDVEKSLPPK KEIKIYLGLS KMQREWYTKI LMKDIDVLNS SGKMDKMRLL
460 470 480 490 500
NILMQLRKCC NHPYLFDGAE PGPPYTTDEH IVSNSGKMVV LDKLLAKLKE
510 520 530 540 550
QGSRVLIFSQ MTRLLDILED YCMWRGYEYC RLDGQTPHEE REDKFLEVEF
560 570 580 590 600
LGQREAIEAF NAPNSSKFIF MLSTRAGGLG INLASADVVI LYDSDWNPQV
610 620 630 640 650
DLQAMDRAHR IGQKKPVRVF RLITDNTVEE RIVERAEIKL RLDSIVIQQG
660 670 680 690 700
RLIDQQSNKL AKEEMLQMIR HGATHVFASK ESELTDEDIT TILERGEKKT
710 720 730 740 750
AEMNERLQKM GESSLRNFRM DIEQSLYKFE GEDYREKQKL GMVEWIEPPK
760 770 780 790 800
RERKANYAVD AYFREALRVS EPKIPKAPRP PKQPNVQDFQ FFPPRLFELL
810 820 830 840 850
EKEILYYRKT IGYKVPRNPD IPNPALAQRE EQKKIDGAEP LTPEETEEKE
860 870 880 890 900
KLLTQGFTNW TKRDFNQFIK ANEKYGRDDI DNIAREVEGK SPEEVMEYSA
910 920 930 940 950
VFWERCNELQ DIEKIMAQIE RGEARIQRRI SIKKALDAKI ARYKAPFHQL
960 970 980 990 1000
RIQYGTSKGK NYTEEEDRFL ICMLHKMGFD RENVYEELRQ CVRNAPQFRF
1010 1020 1030 1040 1050
DWFIKSRTAM EFQRRCNTLI SLIEKENMEI EERERAEKKK RATKTPMVKF

SAFS
Note: Inactive as an ATPase and a chromatin remodeler due to the presence of exon 13, but retains its ability to incorporate into the NURF complex. Predominant in non neuronal tissues.
Length:1,054
Mass (Da):122,605
Last modified:September 19, 2006 - v2
Checksum:iD3FBFCA177F7D3C0
GO
Isoform 2 (identifier: P28370-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     543-554: Missing.

Show »
Length:1,042
Mass (Da):121,142
Checksum:iC6F6F9EF9C9F1C60
GO

Sequence cautioni

The sequence AAA80560 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001242656Q → R1 PublicationCorresponds to variant dbSNP:rs1134838Ensembl.1
Natural variantiVAR_079028978G → V Found in a patient with Rett syndrome-like phenotype; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_020406543 – 554Missing in isoform 2. 1 PublicationAdd BLAST12

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M88163 mRNA. Translation: AAA80559.1.
M89907 mRNA. Translation: AAA80560.1. Different initiation.
AL138745, AL022577 Genomic DNA. Translation: CAI42612.1.
AL138745, AL022577 Genomic DNA. Translation: CAI42613.1.
AL022577, AL138745 Genomic DNA. Translation: CAI42682.1.
AL022577, AL138745 Genomic DNA. Translation: CAI42683.1.
BC117447 mRNA. Translation: AAI17448.1.
CCDSiCCDS14612.1. [P28370-1]
PIRiS35457.
S35458.
RefSeqiNP_001269804.1. NM_001282875.1.
NP_003060.2. NM_003069.4. [P28370-1]
XP_005262518.1. XM_005262461.2. [P28370-1]
XP_006724845.1. XM_006724782.2. [P28370-2]
XP_016885239.1. XM_017029750.1. [P28370-2]
UniGeneiHs.152292.

Genome annotation databases

EnsembliENST00000371122; ENSP00000360163; ENSG00000102038. [P28370-1]
GeneIDi6594.
KEGGihsa:6594.
UCSCiuc004eun.6. human. [P28370-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSMCA1_HUMAN
AccessioniPrimary (citable) accession number: P28370
Secondary accession number(s): Q5JV41, Q5JV42
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: September 19, 2006
Last modified: November 22, 2017
This is version 186 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families