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P51531

- SMCA2_HUMAN

UniProt

P51531 - SMCA2_HUMAN

Protein

Probable global transcription activator SNF2L2

Gene

SMARCA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 156 (01 Oct 2014)
      Sequence version 2 (04 Nov 2008)
      Previous versions | rss
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    Functioni

    Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. 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 post-mitotic 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 post-mitotic 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.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi749 – 7568ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. DNA-dependent ATPase activity Source: BHF-UCL
    3. helicase activity Source: ProtInc
    4. protein binding Source: UniProtKB
    5. RNA polymerase II transcription coactivator activity Source: UniProtKB
    6. transcription coactivator activity Source: ProtInc
    7. transcription regulatory region DNA binding Source: UniProtKB

    GO - Biological processi

    1. aortic smooth muscle cell differentiation Source: Ensembl
    2. ATP catabolic process Source: GOC
    3. chromatin remodeling Source: BHF-UCL
    4. negative regulation of cell growth Source: BHF-UCL
    5. negative regulation of cell proliferation Source: Ensembl
    6. negative regulation of transcription, DNA-templated Source: BHF-UCL
    7. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    8. nervous system development Source: UniProtKB-KW
    9. positive regulation of transcription, DNA-templated Source: UniProtKB
    10. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    11. regulation of transcription, DNA-templated Source: ProtInc
    12. regulation of transcription from RNA polymerase II promoter Source: ProtInc

    Keywords - Molecular functioni

    Activator, Helicase, Hydrolase

    Keywords - Biological processi

    Neurogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    ATP-binding, DNA-binding, Nucleotide-binding

    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 2
    Gene namesi
    Name:SMARCA2
    Synonyms:BAF190B, BRM, SNF2A, SNF2L2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:11098. SMARCA2.

    Subcellular locationi

    GO - Cellular componenti

    1. intermediate filament cytoskeleton Source: HPA
    2. intracellular membrane-bounded organelle Source: HPA
    3. nBAF complex Source: UniProtKB
    4. npBAF complex Source: UniProtKB
    5. nuclear chromatin Source: BHF-UCL
    6. nucleoplasm Source: ProtInc
    7. nucleus Source: UniProtKB
    8. SWI/SNF complex Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti752 – 7521G → A in NCBRS. 1 Publication
    Corresponds to variant rs281875198 [ dbSNP | Ensembl ].
    VAR_068180
    Natural varianti755 – 7551K → R in NCBRS. 1 Publication
    Corresponds to variant rs281875203 [ dbSNP | Ensembl ].
    VAR_068181
    Natural varianti756 – 7561T → I in NCBRS. 1 Publication
    Corresponds to variant rs281875191 [ dbSNP | Ensembl ].
    VAR_068182
    Natural varianti851 – 8511D → H in NCBRS. 1 Publication
    Corresponds to variant rs281875206 [ dbSNP | Ensembl ].
    VAR_068183
    Natural varianti852 – 8521E → D in NCBRS. 1 Publication
    Corresponds to variant rs281875193 [ dbSNP | Ensembl ].
    VAR_068184
    Natural varianti852 – 8521E → K in NCBRS. 1 Publication
    Corresponds to variant rs281875199 [ dbSNP | Ensembl ].
    VAR_068185
    Natural varianti854 – 8541H → N in NCBRS. 1 Publication
    VAR_068186
    Natural varianti854 – 8541H → R in NCBRS. 1 Publication
    Corresponds to variant rs281875202 [ dbSNP | Ensembl ].
    VAR_068187
    Natural varianti855 – 8551R → G in NCBRS. 1 Publication
    Corresponds to variant rs281875207 [ dbSNP | Ensembl ].
    VAR_068188
    Natural varianti881 – 8811G → R in NCBRS. 1 Publication
    Corresponds to variant rs281875194 [ dbSNP | Ensembl ].
    VAR_068189
    Natural varianti881 – 8811G → V in NCBRS. 1 Publication
    Corresponds to variant rs281875185 [ dbSNP | Ensembl ].
    VAR_068190
    Natural varianti883 – 8831P → L in NCBRS. 1 Publication
    Corresponds to variant rs281875188 [ dbSNP | Ensembl ].
    VAR_068191
    Natural varianti939 – 9391H → Y in NCBRS. 1 Publication
    Corresponds to variant rs281875190 [ dbSNP | Ensembl ].
    VAR_068192
    Natural varianti946 – 9461L → F in NCBRS. 1 Publication
    Corresponds to variant rs281875205 [ dbSNP | Ensembl ].
    VAR_068193
    Natural varianti946 – 9461L → S in NCBRS. 1 Publication
    Corresponds to variant rs281875200 [ dbSNP | Ensembl ].
    VAR_068194
    Natural varianti1105 – 11051R → C in NCBRS. 1 Publication
    Corresponds to variant rs281875192 [ dbSNP | Ensembl ].
    VAR_068195
    Natural varianti1105 – 11051R → P in NCBRS. 1 Publication
    Corresponds to variant rs281875197 [ dbSNP | Ensembl ].
    VAR_068196
    Natural varianti1135 – 11351L → P in NCBRS. 1 Publication
    Corresponds to variant rs281875195 [ dbSNP | Ensembl ].
    VAR_068197
    Natural varianti1146 – 11461S → R in NCBRS. 1 Publication
    Corresponds to variant rs281875204 [ dbSNP | Ensembl ].
    VAR_068198
    Natural varianti1158 – 11581D → V in NCBRS. 1 Publication
    Corresponds to variant rs281875240 [ dbSNP | Ensembl ].
    VAR_068199
    Natural varianti1159 – 11591R → G in NCBRS. 1 Publication
    Corresponds to variant rs281875184 [ dbSNP | Ensembl ].
    VAR_068200
    Natural varianti1159 – 11591R → L in NCBRS. 1 Publication
    Corresponds to variant rs281875187 [ dbSNP | Ensembl ].
    VAR_068201
    Natural varianti1159 – 11591R → Q in NCBRS. 1 Publication
    Corresponds to variant rs281875187 [ dbSNP | Ensembl ].
    VAR_068202
    Natural varianti1162 – 11621R → H in NCBRS. 1 Publication
    Corresponds to variant rs281875186 [ dbSNP | Ensembl ].
    VAR_068203
    Natural varianti1188 – 11881A → P in NCBRS. 1 Publication
    Corresponds to variant rs281875196 [ dbSNP | Ensembl ].
    VAR_068204
    Natural varianti1201 – 12011A → V in NCBRS. 1 Publication
    Corresponds to variant rs281875189 [ dbSNP | Ensembl ].
    VAR_068205
    Natural varianti1202 – 12021G → C in NCBRS. 1 Publication
    Corresponds to variant rs281875239 [ dbSNP | Ensembl ].
    VAR_068206
    Natural varianti1205 – 12051D → G in NCBRS. 1 Publication
    Corresponds to variant rs281875201 [ dbSNP | Ensembl ].
    VAR_068207
    Natural varianti1213 – 12131R → W in NCBRS. 1 Publication
    Corresponds to variant rs281875238 [ dbSNP | Ensembl ].
    VAR_068208

    Keywords - Diseasei

    Disease mutation, Hypotrichosis, Mental retardation

    Organism-specific databases

    MIMi601358. phenotype.
    Orphaneti3051. intellectual disability - sparse hair - brachydactyly.
    PharmGKBiPA35948.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 15901590Probable global transcription activator SNF2L2PRO_0000074352Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei175 – 1751Phosphoserine2 Publications
    Modified residuei329 – 3291Phosphoserine2 Publications
    Modified residuei604 – 6041N6-acetyllysineBy similarity
    Modified residuei997 – 9971N6-acetyllysine1 Publication
    Modified residuei999 – 9991N6-acetyllysine1 Publication
    Modified residuei1512 – 15121Phosphoserine2 Publications
    Modified residuei1516 – 15161Phosphoserine2 Publications
    Modified residuei1528 – 15281Phosphoserine1 Publication
    Modified residuei1568 – 15681Phosphoserine3 Publications
    Modified residuei1572 – 15721Phosphoserine3 Publications

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiP51531.
    PaxDbiP51531.
    PRIDEiP51531.

    PTM databases

    PhosphoSiteiP51531.

    Miscellaneous databases

    PMAP-CutDBP51531.

    Expressioni

    Gene expression databases

    ArrayExpressiP51531.
    BgeeiP51531.
    CleanExiHS_SMARCA2.
    GenevestigatoriP51531.

    Organism-specific databases

    HPAiCAB037276.
    HPA029981.

    Interactioni

    Subunit structurei

    Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Binds TOPBP1. 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.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    P043268EBI-679562,EBI-7333987From a different organism.
    ARID1AO144973EBI-679562,EBI-637887
    ARID1BQ8NFD53EBI-679562,EBI-679921
    KHDRBS1Q076662EBI-679562,EBI-1364
    MECP2P516084EBI-679562,EBI-1189067

    Protein-protein interaction databases

    BioGridi112479. 97 interactions.
    DIPiDIP-29005N.
    IntActiP51531. 24 interactions.
    MINTiMINT-1898892.
    STRINGi9606.ENSP00000265773.

    Structurei

    Secondary structure

    1
    1590
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi1381 – 139616
    Beta strandi1418 – 14203
    Helixi1424 – 14274
    Turni1433 – 14353
    Helixi1438 – 14425
    Helixi1449 – 14568
    Turni1457 – 14593
    Helixi1464 – 148118
    Helixi1487 – 150418

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2DATNMR-A1377-1504[»]
    ProteinModelPortaliP51531.
    SMRiP51531. Positions 665-1202, 1378-1504.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP51531.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini173 – 20836QLQPROSITE-ProRule annotationAdd
    BLAST
    Domaini436 – 50873HSAPROSITE-ProRule annotationAdd
    BLAST
    Domaini736 – 901166Helicase ATP-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1054 – 1216163Helicase C-terminalPROSITE-ProRule annotationAdd
    BLAST
    Domaini1419 – 148971BromoPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi851 – 8544DEGH box

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi216 – 23823Poly-GlnAdd
    BLAST
    Compositional biasi245 – 2539Poly-Gln
    Compositional biasi559 – 5624Poly-Arg
    Compositional biasi643 – 6508Poly-Glu
    Compositional biasi1297 – 13015Poly-Glu
    Compositional biasi1518 – 152912Poly-GluAdd
    BLAST

    Sequence similaritiesi

    Belongs to the SNF2/RAD54 helicase family.Curated
    Contains 1 bromo domain.PROSITE-ProRule annotation
    Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
    Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation
    Contains 1 HSA domain.PROSITE-ProRule annotation
    Contains 1 QLQ domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Bromodomain

    Phylogenomic databases

    eggNOGiCOG0553.
    HOGENOMiHOG000172363.
    HOVERGENiHBG056636.
    InParanoidiP51531.
    KOiK11647.
    OMAiNYKDRCN.
    PhylomeDBiP51531.
    TreeFamiTF300785.

    Family and domain databases

    Gene3Di1.20.920.10. 1 hit.
    3.40.50.300. 2 hits.
    InterProiIPR006576. BRK_domain.
    IPR001487. Bromodomain.
    IPR018359. Bromodomain_CS.
    IPR014978. Gln-Leu-Gln_QLQ.
    IPR013999. HAS_subgr.
    IPR014012. Helicase/SANT-assoc_DNA-bd.
    IPR014001. Helicase_ATP-bd.
    IPR001650. Helicase_C.
    IPR027417. P-loop_NTPase.
    IPR029295. SnAC.
    IPR000330. SNF2_N.
    [Graphical view]
    PfamiPF07533. 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.
    [Graphical view]
    PRINTSiPR00503. BROMODOMAIN.
    SMARTiSM00592. BRK. 1 hit.
    SM00297. BROMO. 1 hit.
    SM00487. DEXDc. 1 hit.
    SM00490. HELICc. 1 hit.
    SM00573. HSA. 1 hit.
    SM00951. QLQ. 1 hit.
    [Graphical view]
    SUPFAMiSSF47370. SSF47370. 1 hit.
    SSF52540. SSF52540. 2 hits.
    PROSITEiPS00633. 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.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MSTPTDPGAM PHPGPSPGPG PSPGPILGPS PGPGPSPGSV HSMMGPSPGP     50
    PSVSHPMPTM GSTDFPQEGM HQMHKPIDGI HDKGIVEDIH CGSMKGTGMR 100
    PPHPGMGPPQ SPMDQHSQGY MSPHPSPLGA PEHVSSPMSG GGPTPPQMPP 150
    SQPGALIPGD PQAMSQPNRG PSPFSPVQLH QLRAQILAYK MLARGQPLPE 200
    TLQLAVQGKR TLPGLQQQQQ QQQQQQQQQQ QQQQQQQQPQ QQPPQPQTQQ 250
    QQQPALVNYN RPSGPGPELS GPSTPQKLPV PAPGGRPSPA PPAAAQPPAA 300
    AVPGPSVPQP APGQPSPVLQ LQQKQSRISP IQKPQGLDPV EILQEREYRL 350
    QARIAHRIQE LENLPGSLPP DLRTKATVEL KALRLLNFQR QLRQEVVACM 400
    RRDTTLETAL NSKAYKRSKR QTLREARMTE KLEKQQKIEQ ERKRRQKHQE 450
    YLNSILQHAK DFKEYHRSVA GKIQKLSKAV ATWHANTERE QKKETERIEK 500
    ERMRRLMAED EEGYRKLIDQ KKDRRLAYLL QQTDEYVANL TNLVWEHKQA 550
    QAAKEKKKRR RRKKKAEENA EGGESALGPD GEPIDESSQM SDLPVKVTHT 600
    ETGKVLFGPE APKASQLDAW LEMNPGYEVA PRSDSEESDS DYEEEDEEEE 650
    SSRQETEEKI LLDPNSEEVS EKDAKQIIET AKQDVDDEYS MQYSARGSQS 700
    YYTVAHAISE RVEKQSALLI NGTLKHYQLQ GLEWMVSLYN NNLNGILADE 750
    MGLGKTIQTI ALITYLMEHK RLNGPYLIIV PLSTLSNWTY EFDKWAPSVV 800
    KISYKGTPAM RRSLVPQLRS GKFNVLLTTY EYIIKDKHIL AKIRWKYMIV 850
    DEGHRMKNHH CKLTQVLNTH YVAPRRILLT GTPLQNKLPE LWALLNFLLP 900
    TIFKSCSTFE QWFNAPFAMT GERVDLNEEE TILIIRRLHK VLRPFLLRRL 950
    KKEVESQLPE KVEYVIKCDM SALQKILYRH MQAKGILLTD GSEKDKKGKG 1000
    GAKTLMNTIM QLRKICNHPY MFQHIEESFA EHLGYSNGVI NGAELYRASG 1050
    KFELLDRILP KLRATNHRVL LFCQMTSLMT IMEDYFAFRN FLYLRLDGTT 1100
    KSEDRAALLK KFNEPGSQYF IFLLSTRAGG LGLNLQAADT VVIFDSDWNP 1150
    HQDLQAQDRA HRIGQQNEVR VLRLCTVNSV EEKILAAAKY KLNVDQKVIQ 1200
    AGMFDQKSSS HERRAFLQAI LEHEEENEEE DEVPDDETLN QMIARREEEF 1250
    DLFMRMDMDR RREDARNPKR KPRLMEEDEL PSWIIKDDAE VERLTCEEEE 1300
    EKIFGRGSRQ RRDVDYSDAL TEKQWLRAIE DGNLEEMEEE VRLKKRKRRR 1350
    NVDKDPAKED VEKAKKRRGR PPAEKLSPNP PKLTKQMNAI IDTVINYKDR 1400
    CNVEKVPSNS QLEIEGNSSG RQLSEVFIQL PSRKELPEYY ELIRKPVDFK 1450
    KIKERIRNHK YRSLGDLEKD VMLLCHNAQT FNLEGSQIYE DSIVLQSVFK 1500
    SARQKIAKEE ESEDESNEEE EEEDEEESES EAKSVKVKIK LNKKDDKGRD 1550
    KGKGKKRPNR GKAKPVVSDF DSDEEQDERE QSEGSGTDDE 1590
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti237 – 2404Missing in CAA51407. (PubMed:8223438)Curated
    Sequence conflicti394 – 3941Q → E in BAA05142. (PubMed:8208605)Curated
    Sequence conflicti513 – 5131G → S in BAA05142. (PubMed:8208605)Curated
    Sequence conflicti711 – 7111R → W in CAA51407. (PubMed:8223438)Curated
    Sequence conflicti1139 – 11391D → H in BAA05142. (PubMed:8208605)Curated
    Sequence conflicti1394 – 13941V → C in CAA51407. (PubMed:8223438)Curated
    Sequence conflicti1400 – 14001R → S in CAA51407. (PubMed:8223438)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti752 – 7521G → A in NCBRS. 1 Publication
    Corresponds to variant rs281875198 [ dbSNP | Ensembl ].
    VAR_068180
    Natural varianti755 – 7551K → R in NCBRS. 1 Publication
    Corresponds to variant rs281875203 [ dbSNP | Ensembl ].
    VAR_068181
    Natural varianti756 – 7561T → I in NCBRS. 1 Publication
    Corresponds to variant rs281875191 [ dbSNP | Ensembl ].
    VAR_068182
    Natural varianti851 – 8511D → H in NCBRS. 1 Publication
    Corresponds to variant rs281875206 [ dbSNP | Ensembl ].
    VAR_068183
    Natural varianti852 – 8521E → D in NCBRS. 1 Publication
    Corresponds to variant rs281875193 [ dbSNP | Ensembl ].
    VAR_068184
    Natural varianti852 – 8521E → K in NCBRS. 1 Publication
    Corresponds to variant rs281875199 [ dbSNP | Ensembl ].
    VAR_068185
    Natural varianti854 – 8541H → N in NCBRS. 1 Publication
    VAR_068186
    Natural varianti854 – 8541H → R in NCBRS. 1 Publication
    Corresponds to variant rs281875202 [ dbSNP | Ensembl ].
    VAR_068187
    Natural varianti855 – 8551R → G in NCBRS. 1 Publication
    Corresponds to variant rs281875207 [ dbSNP | Ensembl ].
    VAR_068188
    Natural varianti881 – 8811G → R in NCBRS. 1 Publication
    Corresponds to variant rs281875194 [ dbSNP | Ensembl ].
    VAR_068189
    Natural varianti881 – 8811G → V in NCBRS. 1 Publication
    Corresponds to variant rs281875185 [ dbSNP | Ensembl ].
    VAR_068190
    Natural varianti883 – 8831P → L in NCBRS. 1 Publication
    Corresponds to variant rs281875188 [ dbSNP | Ensembl ].
    VAR_068191
    Natural varianti939 – 9391H → Y in NCBRS. 1 Publication
    Corresponds to variant rs281875190 [ dbSNP | Ensembl ].
    VAR_068192
    Natural varianti946 – 9461L → F in NCBRS. 1 Publication
    Corresponds to variant rs281875205 [ dbSNP | Ensembl ].
    VAR_068193
    Natural varianti946 – 9461L → S in NCBRS. 1 Publication
    Corresponds to variant rs281875200 [ dbSNP | Ensembl ].
    VAR_068194
    Natural varianti1105 – 11051R → C in NCBRS. 1 Publication
    Corresponds to variant rs281875192 [ dbSNP | Ensembl ].
    VAR_068195
    Natural varianti1105 – 11051R → P in NCBRS. 1 Publication
    Corresponds to variant rs281875197 [ dbSNP | Ensembl ].
    VAR_068196
    Natural varianti1135 – 11351L → P in NCBRS. 1 Publication
    Corresponds to variant rs281875195 [ dbSNP | Ensembl ].
    VAR_068197
    Natural varianti1146 – 11461S → R in NCBRS. 1 Publication
    Corresponds to variant rs281875204 [ dbSNP | Ensembl ].
    VAR_068198
    Natural varianti1158 – 11581D → V in NCBRS. 1 Publication
    Corresponds to variant rs281875240 [ dbSNP | Ensembl ].
    VAR_068199
    Natural varianti1159 – 11591R → G in NCBRS. 1 Publication
    Corresponds to variant rs281875184 [ dbSNP | Ensembl ].
    VAR_068200
    Natural varianti1159 – 11591R → L in NCBRS. 1 Publication
    Corresponds to variant rs281875187 [ dbSNP | Ensembl ].
    VAR_068201
    Natural varianti1159 – 11591R → Q in NCBRS. 1 Publication
    Corresponds to variant rs281875187 [ dbSNP | Ensembl ].
    VAR_068202
    Natural varianti1162 – 11621R → H in NCBRS. 1 Publication
    Corresponds to variant rs281875186 [ dbSNP | Ensembl ].
    VAR_068203
    Natural varianti1188 – 11881A → P in NCBRS. 1 Publication
    Corresponds to variant rs281875196 [ dbSNP | Ensembl ].
    VAR_068204
    Natural varianti1201 – 12011A → V in NCBRS. 1 Publication
    Corresponds to variant rs281875189 [ dbSNP | Ensembl ].
    VAR_068205
    Natural varianti1202 – 12021G → C in NCBRS. 1 Publication
    Corresponds to variant rs281875239 [ dbSNP | Ensembl ].
    VAR_068206
    Natural varianti1205 – 12051D → G in NCBRS. 1 Publication
    Corresponds to variant rs281875201 [ dbSNP | Ensembl ].
    VAR_068207
    Natural varianti1213 – 12131R → W in NCBRS. 1 Publication
    Corresponds to variant rs281875238 [ dbSNP | Ensembl ].
    VAR_068208
    Natural varianti1416 – 14161G → A.
    Corresponds to variant rs3793510 [ dbSNP | Ensembl ].
    VAR_049501
    Natural varianti1546 – 15461D → E.
    Corresponds to variant rs2296212 [ dbSNP | Ensembl ].
    VAR_049502

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1400 – 141718Missing in isoform Short. 1 PublicationVSP_000577Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X72889 mRNA. Translation: CAA51407.1.
    D26155 mRNA. Translation: BAA05142.1.
    AL359076, AL138755 Genomic DNA. Translation: CAI12967.1.
    AL359076, AL138755 Genomic DNA. Translation: CAI12968.1.
    AL138755, AL359076 Genomic DNA. Translation: CAI14599.1.
    AL138755, AL359076 Genomic DNA. Translation: CAI14600.1.
    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.3. human. [P51531-1]
    uc003zhd.3. human. [P51531-2]

    Polymorphism databases

    DMDMi212276472.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X72889 mRNA. Translation: CAA51407.1 .
    D26155 mRNA. Translation: BAA05142.1 .
    AL359076 , AL138755 Genomic DNA. Translation: CAI12967.1 .
    AL359076 , AL138755 Genomic DNA. Translation: CAI12968.1 .
    AL138755 , AL359076 Genomic DNA. Translation: CAI14599.1 .
    AL138755 , AL359076 Genomic DNA. Translation: CAI14600.1 .
    CH471071 Genomic DNA. Translation: EAW58811.1 .
    CH471071 Genomic DNA. Translation: EAW58813.1 .
    CH471071 Genomic DNA. Translation: EAW58814.1 .
    CH471071 Genomic DNA. Translation: EAW58815.1 .
    CCDSi CCDS34977.1. [P51531-1 ]
    CCDS34978.1. [P51531-2 ]
    PIRi S39580.
    S45251.
    RefSeqi NP_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 ]
    UniGenei Hs.298990.
    Hs.644901.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2DAT NMR - A 1377-1504 [» ]
    ProteinModelPortali P51531.
    SMRi P51531. Positions 665-1202, 1378-1504.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112479. 97 interactions.
    DIPi DIP-29005N.
    IntActi P51531. 24 interactions.
    MINTi MINT-1898892.
    STRINGi 9606.ENSP00000265773.

    Chemistry

    ChEMBLi CHEMBL2362979.

    PTM databases

    PhosphoSitei P51531.

    Polymorphism databases

    DMDMi 212276472.

    Proteomic databases

    MaxQBi P51531.
    PaxDbi P51531.
    PRIDEi P51531.

    Protocols and materials databases

    DNASUi 6595.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000349721 ; ENSP00000265773 ; ENSG00000080503 . [P51531-1 ]
    ENST00000357248 ; ENSP00000349788 ; ENSG00000080503 . [P51531-2 ]
    ENST00000382194 ; ENSP00000371629 ; ENSG00000080503 . [P51531-2 ]
    ENST00000382203 ; ENSP00000371638 ; ENSG00000080503 . [P51531-1 ]
    GeneIDi 6595.
    KEGGi hsa:6595.
    UCSCi uc003zhc.3. human. [P51531-1 ]
    uc003zhd.3. human. [P51531-2 ]

    Organism-specific databases

    CTDi 6595.
    GeneCardsi GC09P002005.
    HGNCi HGNC:11098. SMARCA2.
    HPAi CAB037276.
    HPA029981.
    MIMi 600014. gene.
    601358. phenotype.
    neXtProti NX_P51531.
    Orphaneti 3051. intellectual disability - sparse hair - brachydactyly.
    PharmGKBi PA35948.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0553.
    HOGENOMi HOG000172363.
    HOVERGENi HBG056636.
    InParanoidi P51531.
    KOi K11647.
    OMAi NYKDRCN.
    PhylomeDBi P51531.
    TreeFami TF300785.

    Miscellaneous databases

    ChiTaRSi SMARCA2. human.
    EvolutionaryTracei P51531.
    GeneWikii SMARCA2.
    GenomeRNAii 6595.
    NextBioi 25649.
    PMAP-CutDB P51531.
    PROi P51531.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P51531.
    Bgeei P51531.
    CleanExi HS_SMARCA2.
    Genevestigatori P51531.

    Family and domain databases

    Gene3Di 1.20.920.10. 1 hit.
    3.40.50.300. 2 hits.
    InterProi IPR006576. BRK_domain.
    IPR001487. Bromodomain.
    IPR018359. Bromodomain_CS.
    IPR014978. Gln-Leu-Gln_QLQ.
    IPR013999. HAS_subgr.
    IPR014012. Helicase/SANT-assoc_DNA-bd.
    IPR014001. Helicase_ATP-bd.
    IPR001650. Helicase_C.
    IPR027417. P-loop_NTPase.
    IPR029295. SnAC.
    IPR000330. SNF2_N.
    [Graphical view ]
    Pfami 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.
    [Graphical view ]
    PRINTSi PR00503. BROMODOMAIN.
    SMARTi SM00592. BRK. 1 hit.
    SM00297. BROMO. 1 hit.
    SM00487. DEXDc. 1 hit.
    SM00490. HELICc. 1 hit.
    SM00573. HSA. 1 hit.
    SM00951. QLQ. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47370. SSF47370. 1 hit.
    SSF52540. SSF52540. 2 hits.
    PROSITEi 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.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A human homologue of Saccharomyces cerevisiae SNF2/SWI2 and Drosophila brm genes potentiates transcriptional activation by the glucocorticoid receptor."
      Muchardt C., Yaniv M.
      EMBO J. 12:4279-4290(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
      Tissue: Liver.
    2. "Two human homologues of Saccharomyces cerevisiae SWI2/SNF2 and Drosophila brahma are transcriptional coactivators cooperating with the estrogen receptor and the retinoic acid receptor."
      Chiba H., Muramatsu M., Nomoto A., Kato H.
      Nucleic Acids Res. 22:1815-1820(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
      Tissue: Brain.
    3. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome."
      Kitagawa H., Fujiki R., Yoshimura K., Mezaki Y., Uematsu Y., Matsui D., Ogawa S., Unno K., Okubo M., Tokita A., Nakagawa T., Ito T., Ishimi Y., Nagasawa H., Matsumoto T., Yanagisawa J., Kato S.
      Cell 113:905-917(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE WINAC COMPLEX, FUNCTION.
    6. "TopBP1 recruits Brg1/Brm to repress E2F1-induced apoptosis, a novel pRb-independent and E2F1-specific control for cell survival."
      Liu K., Luo Y., Lin F.-T., Lin W.-C.
      Genes Dev. 18:673-686(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TOPBP1.
    7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-329; SER-1568 AND SER-1572, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    9. "Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex."
      Lange M., Kaynak B., Forster U.B., Toenjes M., Fischer J.J., Grimm C., Schlesinger J., Just S., Dunkel I., Krueger T., Mebus S., Lehrach H., Lurz R., Gobom J., Rottbauer W., Abdelilah-Seyfried S., Sperling S.
      Genes Dev. 22:2370-2384(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE BAF COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
    10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-175; SER-1512; SER-1516 AND SER-1528, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography."
      Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.
      Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1568 AND SER-1572, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Liver.
    12. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1512 AND SER-1516, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    13. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-997 AND LYS-999, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-175; SER-329; SER-1568 AND SER-1572, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    15. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    16. Cited for: INVOLVEMENT IN NCBRS.
    17. "Solution structure of the bromodomain of human SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily A member 2."
      RIKEN structural genomics initiative (RSGI)
      Submitted (JAN-2007) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 1377-1486.
    18. "Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome."
      Van Houdt J.K., Nowakowska B.A., Sousa S.B., van Schaik B.D., Seuntjens E., Avonce N., Sifrim A., Abdul-Rahman O.A., van den Boogaard M.J., Bottani A., Castori M., Cormier-Daire V., Deardorff M.A., Filges I., Fryer A., Fryns J.P., Gana S., Garavelli L.
      , Gillessen-Kaesbach G., Hall B.D., Horn D., Huylebroeck D., Klapecki J., Krajewska-Walasek M., Kuechler A., Lines M.A., Maas S., Macdermot K.D., McKee S., Magee A., de Man S.A., Moreau Y., Morice-Picard F., Obersztyn E., Pilch J., Rosser E., Shannon N., Stolte-Dijkstra I., Van Dijck P., Vilain C., Vogels A., Wakeling E., Wieczorek D., Wilson L., Zuffardi O., van Kampen A.H., Devriendt K., Hennekam R., Vermeesch J.R.
      Nat. Genet. 44:445-449(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS NCBRS ALA-752; ARG-755; ILE-756; HIS-851; ASP-852; LYS-852; ARG-854; ASN-854; GLY-855; ARG-881; VAL-881; LEU-883; TYR-939; SER-946; PHE-946; CYS-1105; PRO-1105; PRO-1135; ARG-1146; VAL-1158; GLY-1159; LEU-1159; GLN-1159; HIS-1162; PRO-1188; VAL-1201; CYS-1202; GLY-1205 AND TRP-1213.

    Entry informationi

    Entry nameiSMCA2_HUMAN
    AccessioniPrimary (citable) accession number: P51531
    Secondary accession number(s): B1ALG3
    , B1ALG4, D3DRH4, D3DRH5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: November 4, 2008
    Last modified: October 1, 2014
    This is version 156 of the entry and version 2 of the sequence. [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

    External Data

    Dasty 3