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UniProtKB - P51531 (SMCA2_HUMAN)

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Protein

Probable global transcription activator SNF2L2

Gene

SMARCA2

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

Functioni

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically (PubMed:22952240, PubMed:26601204). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).2 PublicationsBy similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi749 – 756ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • chromatin binding Source: Ensembl
  • DNA-dependent ATPase activity Source: BHF-UCL
  • helicase activity Source: ProtInc
  • histone binding Source: InterPro
  • RNA polymerase II transcription coactivator activity Source: UniProtKB
  • transcription coactivator activity Source: ProtInc
  • transcription regulatory region DNA binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • chromatin remodeling Source: BHF-UCL
  • negative regulation of cell growth Source: BHF-UCL
  • negative regulation of cell proliferation Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: BHF-UCL
  • negative regulation of transcription by RNA polymerase II Source: BHF-UCL
  • nervous system development Source: UniProtKB-KW
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of transcription by RNA polymerase II Source: BHF-UCL
  • regulation of transcription, DNA-templated Source: ProtInc
  • regulation of transcription by RNA polymerase II Source: ProtInc
  • spermatid development Source: Ensembl
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActivator, DNA-binding, Helicase, Hydrolase
Biological processNeurogenesis, Transcription, Transcription regulation
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-3214858 RMTs methylate histone arginines
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
SIGNORiP51531

Names & Taxonomyi

Protein namesi
Recommended name:
Probable global transcription activator SNF2L2 (EC:3.6.4.-)
Alternative name(s):
ATP-dependent helicase SMARCA2
BRG1-associated factor 190B
Short name:
BAF190B
Protein brahma homolog
Short name:
hBRM
SNF2-alpha
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2Imported
Gene namesi
Name:SMARCA2Imported
Synonyms:BAF190B, BRM, SNF2A, SNF2L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000080503.20
HGNCiHGNC:11098 SMARCA2
MIMi600014 gene
neXtProtiNX_P51531

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

Involvement in diseasei

Nicolaides-Baraitser syndrome (NCBRS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time.
See also OMIM:601358
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068180752G → A in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875198EnsemblClinVar.1
Natural variantiVAR_068181755K → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875203EnsemblClinVar.1
Natural variantiVAR_068182756T → I in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875191EnsemblClinVar.1
Natural variantiVAR_068183851D → H in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875206EnsemblClinVar.1
Natural variantiVAR_068184852E → D in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875193EnsemblClinVar.1
Natural variantiVAR_068185852E → K in NCBRS. 2 PublicationsCorresponds to variant dbSNP:rs281875199EnsemblClinVar.1
Natural variantiVAR_068186854H → N in NCBRS. 1 Publication1
Natural variantiVAR_068187854H → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875202EnsemblClinVar.1
Natural variantiVAR_068188855R → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875207EnsemblClinVar.1
Natural variantiVAR_076936855R → Q in NCBRS. 1 Publication1
Natural variantiVAR_076937880T → I in NCBRS. 1 Publication1
Natural variantiVAR_068189881G → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875194EnsemblClinVar.1
Natural variantiVAR_068190881G → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875185EnsemblClinVar.1
Natural variantiVAR_068191883P → L in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875188EnsemblClinVar.1
Natural variantiVAR_068192939H → Y in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875190EnsemblClinVar.1
Natural variantiVAR_068193946L → F in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875205EnsemblClinVar.1
Natural variantiVAR_068194946L → S in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875200EnsemblClinVar.1
Natural variantiVAR_0681951105R → C in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875192EnsemblClinVar.1
Natural variantiVAR_0681961105R → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875197EnsemblClinVar.1
Natural variantiVAR_0681971135L → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875195EnsemblClinVar.1
Natural variantiVAR_0681981146S → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875204EnsemblClinVar.1
Natural variantiVAR_0681991158D → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875240EnsemblClinVar.1
Natural variantiVAR_0682001159R → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875184EnsemblClinVar.1
Natural variantiVAR_0682011159R → L in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875187EnsemblClinVar.1
Natural variantiVAR_0682021159R → Q in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875187EnsemblClinVar.1
Natural variantiVAR_0682031162R → H in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875186EnsemblClinVar.1
Natural variantiVAR_0682041188A → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875196EnsemblClinVar.1
Natural variantiVAR_0682051201A → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875189EnsemblClinVar.1
Natural variantiVAR_0682061202G → C in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875239EnsemblClinVar.1
Natural variantiVAR_0682071205D → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875201EnsemblClinVar.1
Natural variantiVAR_0682081213R → W in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875238EnsemblClinVar.1
Natural variantiVAR_0788151241Q → E in NCBRS. 1 Publication1
Schizophrenia (SCZD)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.
See also OMIM:181500

Keywords - Diseasei

Disease mutation, Hypotrichosis, Mental retardation, Schizophrenia

Organism-specific databases

DisGeNETi6595
MalaCardsiSMARCA2
MIMi181500 phenotype
601358 phenotype
OpenTargetsiENSG00000080503
Orphaneti3051 intellectual disability - sparse hair - brachydactyly
PharmGKBiPA35948

Chemistry databases

ChEMBLiCHEMBL2362979

Polymorphism and mutation databases

BioMutaiSMARCA2
DMDMi212276472

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000743521 – 1590Probable global transcription activator SNF2L2Add BLAST1590

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei172PhosphoserineCombined sources1
Modified residuei175PhosphoserineCombined sources1
Modified residuei190N6-acetyllysineBy similarity1
Modified residuei316PhosphoserineBy similarity1
Modified residuei329PhosphoserineCombined sources1
Modified residuei588PhosphoserineBy similarity1
Modified residuei591PhosphoserineCombined sources1
Modified residuei604N6-acetyllysineBy similarity1
Modified residuei666PhosphoserineCombined sources1
Modified residuei670PhosphoserineBy similarity1
Modified residuei997N6-acetyllysineCombined sources1
Modified residuei999N6-acetyllysineCombined sources1
Cross-linki1302Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Modified residuei1377PhosphoserineCombined sources1
Modified residuei1512PhosphoserineCombined sources1
Modified residuei1516PhosphoserineCombined sources1
Modified residuei1528PhosphoserineCombined sources1
Modified residuei1568PhosphoserineCombined sources1
Modified residuei1572PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP51531
MaxQBiP51531
PaxDbiP51531
PeptideAtlasiP51531
PRIDEiP51531
ProteomicsDBi56325
56326 [P51531-2]

PTM databases

iPTMnetiP51531
PhosphoSitePlusiP51531

Miscellaneous databases

PMAP-CutDBiP51531

Expressioni

Gene expression databases

BgeeiENSG00000080503
CleanExiHS_SMARCA2
ExpressionAtlasiP51531 baseline and differential
GenevisibleiP51531 HS

Organism-specific databases

HPAiCAB037276
HPA029981

Interactioni

Subunit structurei

Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (Probable). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C (PubMed:18765789). In muscle cells, the BAF complex also contains DPF3. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin. Interacts with PHF10/BAF45A (By similarity). Interacts with CEBPB (when not methylated)(PubMed:20111005). Interacts with TOPBP1 (PubMed:15075294). Interacts with CEBPA (when phosphorylated) (PubMed:15107404).2 PublicationsBy similarity4 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112479, 116 interactors
CORUMiP51531
DIPiDIP-29005N
IntActiP51531, 39 interactors
MINTiP51531
STRINGi9606.ENSP00000265773

Chemistry databases

BindingDBiP51531

Structurei

Secondary structure

11590
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi1382 – 1396Combined sources15
Beta strandi1418 – 1420Combined sources3
Helixi1425 – 1427Combined sources3
Turni1433 – 1435Combined sources3
Helixi1437 – 1442Combined sources6
Helixi1449 – 1457Combined sources9
Helixi1464 – 1481Combined sources18
Helixi1487 – 1507Combined sources21

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DATNMR-A1377-1504[»]
4QY4X-ray1.97A/B/C1373-1511[»]
5DKCX-ray1.60A1373-1511[»]
5DKHX-ray1.70A/B/C1373-1511[»]
ProteinModelPortaliP51531
SMRiP51531
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP51531

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini173 – 208QLQPROSITE-ProRule annotationAdd BLAST36
Domaini436 – 508HSAPROSITE-ProRule annotationAdd BLAST73
Domaini736 – 901Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST166
Domaini1054 – 1216Helicase C-terminalPROSITE-ProRule annotationAdd BLAST163
Domaini1419 – 1489BromoPROSITE-ProRule annotationAdd BLAST71

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi851 – 854DEGH box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi216 – 238Poly-GlnAdd BLAST23
Compositional biasi245 – 253Poly-Gln9
Compositional biasi559 – 562Poly-Arg4
Compositional biasi643 – 650Poly-Glu8
Compositional biasi1297 – 1301Poly-Glu5
Compositional biasi1518 – 1529Poly-GluAdd BLAST12

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated

Keywords - Domaini

Bromodomain

Phylogenomic databases

eggNOGiKOG0386 Eukaryota
COG0553 LUCA
COG5076 LUCA
GeneTreeiENSGT00550000074659
HOGENOMiHOG000172363
HOVERGENiHBG056636
InParanoidiP51531
KOiK11647
OMAiSMRPPHP
OrthoDBiEOG091G01R9
PhylomeDBiP51531
TreeFamiTF300785

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di1.20.920.10, 1 hit
2.20.28.130, 1 hit
3.40.50.10810, 2 hits
InterProiView protein in InterPro
IPR006576 BRK_domain
IPR037259 BRK_sf
IPR001487 Bromodomain
IPR036427 Bromodomain-like_sf
IPR018359 Bromodomain_CS
IPR014978 Gln-Leu-Gln_QLQ
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR014012 HSA_dom
IPR027417 P-loop_NTPase
IPR030088 SMARCA2
IPR029295 SnAC
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PANTHERiPTHR10799:SF541 PTHR10799:SF541, 1 hit
PfamiView protein in Pfam
PF07533 BRK, 1 hit
PF00439 Bromodomain, 1 hit
PF00271 Helicase_C, 1 hit
PF07529 HSA, 1 hit
PF08880 QLQ, 1 hit
PF14619 SnAC, 1 hit
PF00176 SNF2_N, 1 hit
PRINTSiPR00503 BROMODOMAIN
SMARTiView protein in SMART
SM00592 BRK, 1 hit
SM00297 BROMO, 1 hit
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SM00573 HSA, 1 hit
SM00951 QLQ, 1 hit
SM01314 SnAC, 1 hit
SUPFAMiSSF160481 SSF160481, 1 hit
SSF47370 SSF47370, 1 hit
SSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS00633 BROMODOMAIN_1, 1 hit
PS50014 BROMODOMAIN_2, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS51204 HSA, 1 hit
PS51666 QLQ, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform Long (identifier: P51531-1) [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
MSTPTDPGAM PHPGPSPGPG PSPGPILGPS PGPGPSPGSV HSMMGPSPGP 
        60         70         80         90        100
PSVSHPMPTM GSTDFPQEGM HQMHKPIDGI HDKGIVEDIH CGSMKGTGMR 
       110        120        130        140        150
PPHPGMGPPQ SPMDQHSQGY MSPHPSPLGA PEHVSSPMSG GGPTPPQMPP 
       160        170        180        190        200
SQPGALIPGD PQAMSQPNRG PSPFSPVQLH QLRAQILAYK MLARGQPLPE 
       210        220        230        240        250
TLQLAVQGKR TLPGLQQQQQ QQQQQQQQQQ QQQQQQQQPQ QQPPQPQTQQ 
       260        270        280        290        300
QQQPALVNYN RPSGPGPELS GPSTPQKLPV PAPGGRPSPA PPAAAQPPAA 
       310        320        330        340        350
AVPGPSVPQP APGQPSPVLQ LQQKQSRISP IQKPQGLDPV EILQEREYRL 
       360        370        380        390        400
QARIAHRIQE LENLPGSLPP DLRTKATVEL KALRLLNFQR QLRQEVVACM 
       410        420        430        440        450
RRDTTLETAL NSKAYKRSKR QTLREARMTE KLEKQQKIEQ ERKRRQKHQE 
       460        470        480        490        500
YLNSILQHAK DFKEYHRSVA GKIQKLSKAV ATWHANTERE QKKETERIEK 
       510        520        530        540        550
ERMRRLMAED EEGYRKLIDQ KKDRRLAYLL QQTDEYVANL TNLVWEHKQA 
       560        570        580        590        600
QAAKEKKKRR RRKKKAEENA EGGESALGPD GEPIDESSQM SDLPVKVTHT 
       610        620        630        640        650
ETGKVLFGPE APKASQLDAW LEMNPGYEVA PRSDSEESDS DYEEEDEEEE 
       660        670        680        690        700
SSRQETEEKI LLDPNSEEVS EKDAKQIIET AKQDVDDEYS MQYSARGSQS 
       710        720        730        740        750
YYTVAHAISE RVEKQSALLI NGTLKHYQLQ GLEWMVSLYN NNLNGILADE 
       760        770        780        790        800
MGLGKTIQTI ALITYLMEHK RLNGPYLIIV PLSTLSNWTY EFDKWAPSVV 
       810        820        830        840        850
KISYKGTPAM RRSLVPQLRS GKFNVLLTTY EYIIKDKHIL AKIRWKYMIV 
       860        870        880        890        900
DEGHRMKNHH CKLTQVLNTH YVAPRRILLT GTPLQNKLPE LWALLNFLLP 
       910        920        930        940        950
TIFKSCSTFE QWFNAPFAMT GERVDLNEEE TILIIRRLHK VLRPFLLRRL 
       960        970        980        990       1000
KKEVESQLPE KVEYVIKCDM SALQKILYRH MQAKGILLTD GSEKDKKGKG 
      1010       1020       1030       1040       1050
GAKTLMNTIM QLRKICNHPY MFQHIEESFA EHLGYSNGVI NGAELYRASG 
      1060       1070       1080       1090       1100
KFELLDRILP KLRATNHRVL LFCQMTSLMT IMEDYFAFRN FLYLRLDGTT 
      1110       1120       1130       1140       1150
KSEDRAALLK KFNEPGSQYF IFLLSTRAGG LGLNLQAADT VVIFDSDWNP 
      1160       1170       1180       1190       1200
HQDLQAQDRA HRIGQQNEVR VLRLCTVNSV EEKILAAAKY KLNVDQKVIQ 
      1210       1220       1230       1240       1250
AGMFDQKSSS HERRAFLQAI LEHEEENEEE DEVPDDETLN QMIARREEEF 
      1260       1270       1280       1290       1300
DLFMRMDMDR RREDARNPKR KPRLMEEDEL PSWIIKDDAE VERLTCEEEE 
      1310       1320       1330       1340       1350
EKIFGRGSRQ RRDVDYSDAL TEKQWLRAIE DGNLEEMEEE VRLKKRKRRR 
      1360       1370       1380       1390       1400
NVDKDPAKED VEKAKKRRGR PPAEKLSPNP PKLTKQMNAI IDTVINYKDR 
      1410       1420       1430       1440       1450
CNVEKVPSNS QLEIEGNSSG RQLSEVFIQL PSRKELPEYY ELIRKPVDFK 
      1460       1470       1480       1490       1500
KIKERIRNHK YRSLGDLEKD VMLLCHNAQT FNLEGSQIYE DSIVLQSVFK 
      1510       1520       1530       1540       1550
SARQKIAKEE ESEDESNEEE EEEDEEESES EAKSVKVKIK LNKKDDKGRD 
      1560       1570       1580       1590
KGKGKKRPNR GKAKPVVSDF DSDEEQDERE QSEGSGTDDE
Length:1,590
Mass (Da):181,279
Last modified:November 4, 2008 - v2
Checksum:iCE69BBB287D35AB5
GO
Isoform Short (identifier: P51531-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1400-1417: Missing.

Show »
Length:1,572
Mass (Da):179,281
Checksum:iBBD4488C2861C270
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti237 – 240Missing in CAA51407 (PubMed:8223438).Curated4
Sequence conflicti394Q → E in BAA05142 (PubMed:8208605).Curated1
Sequence conflicti513G → S in BAA05142 (PubMed:8208605).Curated1
Sequence conflicti711R → W in CAA51407 (PubMed:8223438).Curated1
Sequence conflicti1139D → H in BAA05142 (PubMed:8208605).Curated1
Sequence conflicti1394V → C in CAA51407 (PubMed:8223438).Curated1
Sequence conflicti1400R → S in CAA51407 (PubMed:8223438).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068180752G → A in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875198EnsemblClinVar.1
Natural variantiVAR_068181755K → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875203EnsemblClinVar.1
Natural variantiVAR_068182756T → I in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875191EnsemblClinVar.1
Natural variantiVAR_068183851D → H in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875206EnsemblClinVar.1
Natural variantiVAR_068184852E → D in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875193EnsemblClinVar.1
Natural variantiVAR_068185852E → K in NCBRS. 2 PublicationsCorresponds to variant dbSNP:rs281875199EnsemblClinVar.1
Natural variantiVAR_068186854H → N in NCBRS. 1 Publication1
Natural variantiVAR_068187854H → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875202EnsemblClinVar.1
Natural variantiVAR_068188855R → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875207EnsemblClinVar.1
Natural variantiVAR_076936855R → Q in NCBRS. 1 Publication1
Natural variantiVAR_076937880T → I in NCBRS. 1 Publication1
Natural variantiVAR_068189881G → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875194EnsemblClinVar.1
Natural variantiVAR_068190881G → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875185EnsemblClinVar.1
Natural variantiVAR_068191883P → L in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875188EnsemblClinVar.1
Natural variantiVAR_068192939H → Y in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875190EnsemblClinVar.1
Natural variantiVAR_068193946L → F in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875205EnsemblClinVar.1
Natural variantiVAR_068194946L → S in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875200EnsemblClinVar.1
Natural variantiVAR_0681951105R → C in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875192EnsemblClinVar.1
Natural variantiVAR_0681961105R → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875197EnsemblClinVar.1
Natural variantiVAR_0681971135L → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875195EnsemblClinVar.1
Natural variantiVAR_0681981146S → R in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875204EnsemblClinVar.1
Natural variantiVAR_0681991158D → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875240EnsemblClinVar.1
Natural variantiVAR_0682001159R → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875184EnsemblClinVar.1
Natural variantiVAR_0682011159R → L in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875187EnsemblClinVar.1
Natural variantiVAR_0682021159R → Q in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875187EnsemblClinVar.1
Natural variantiVAR_0682031162R → H in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875186EnsemblClinVar.1
Natural variantiVAR_0682041188A → P in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875196EnsemblClinVar.1
Natural variantiVAR_0682051201A → V in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875189EnsemblClinVar.1
Natural variantiVAR_0682061202G → C in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875239EnsemblClinVar.1
Natural variantiVAR_0682071205D → G in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875201EnsemblClinVar.1
Natural variantiVAR_0682081213R → W in NCBRS. 1 PublicationCorresponds to variant dbSNP:rs281875238EnsemblClinVar.1
Natural variantiVAR_0788151241Q → E in NCBRS. 1 Publication1
Natural variantiVAR_0495011416G → A. Corresponds to variant dbSNP:rs3793510Ensembl.1
Natural variantiVAR_0495021546D → E Polymorphism; associated with schizophrenia in some populations; results in reduced localization to the nucleus; decreased interaction with chromatin. 1 PublicationCorresponds to variant dbSNP:rs2296212EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0005771400 – 1417Missing in isoform Short. 1 PublicationAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X72889 mRNA Translation: CAA51407.1
D26155 mRNA Translation: BAA05142.1
AL359076 Genomic DNA No translation available.
AL138755 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58811.1
CH471071 Genomic DNA Translation: EAW58813.1
CH471071 Genomic DNA Translation: EAW58814.1
CH471071 Genomic DNA Translation: EAW58815.1
CCDSiCCDS34977.1 [P51531-1]
CCDS34978.1 [P51531-2]
PIRiS39580
S45251
RefSeqiNP_001276325.1, NM_001289396.1 [P51531-1]
NP_001276326.1, NM_001289397.1
NP_003061.3, NM_003070.4 [P51531-1]
NP_620614.2, NM_139045.3 [P51531-2]
UniGeneiHs.298990
Hs.644901

Genome annotation databases

EnsembliENST00000349721; ENSP00000265773; ENSG00000080503 [P51531-1]
ENST00000357248; ENSP00000349788; ENSG00000080503 [P51531-2]
ENST00000382194; ENSP00000371629; ENSG00000080503 [P51531-2]
ENST00000382203; ENSP00000371638; ENSG00000080503 [P51531-1]
GeneIDi6595
KEGGihsa:6595
UCSCiuc003zhc.5 human [P51531-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSMCA2_HUMAN
AccessioniPrimary (citable) accession number: P51531
Secondary accession number(s): B1ALG3
, B1ALG4, D3DRH4, D3DRH5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 4, 2008
Last modified: June 20, 2018
This is version 197 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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