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Reviewed, UniProtKB/Swiss-Prot Q9NSI6 (BRWD1_HUMAN)

Last modified December 15, 2009. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Bromodomain and WD repeat-containing protein 1
Alternative name(s):
    WD repeat-containing protein 9
Gene names
Name: BRWD1
Synonyms: C21orf107, WDR9
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2320 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

May be a transcriptional activator. May be involved in chromatin remodeling By similarity.

Subunit structure

Interacts with SMARCA4 By similarity.

Subcellular location

Cytoplasm. Nucleus By similarity.

Tissue specificity

Ubiquitously expressed. Ref.1

Post-translational modification

Phosphorylated upon DNA damage, probably by ATM or ATR By similarity.

Sequence similarities

Contains 2 bromo domains.

Contains 8 WD repeats.

Sequence caution

The sequence CAA10896.1 differs from that shown. Reason: Frameshift at positions 1762 and 1770.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainBromodomain
Repeat
WD repeat
   Molecular functionActivator
   PTMPhosphoprotein
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processtranscription

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from direct assay. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform A (identifier: Q9NSI6-1)

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.
Isoform B (identifier: Q9NSI6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     2191-2320: EFVPRDREPN...GFRSWKENAQ → GKTFTANISK...NVLDFNGCTL
Isoform C (identifier: Q9NSI6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     2191-2285: EFVPRDREPN...AKKKLLNVYK → DKTFSPVYL
     2286-2320: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 23202320Bromodomain and WD repeat-containing protein 1
PRO_0000050888

Regions

Repeat184 – 22340WD 1
Repeat226 – 26540WD 2
Repeat268 – 31144WD 3
Repeat322 – 36544WD 4
Repeat366 – 40540WD 5
Repeat424 – 46340WD 6
Repeat466 – 50641WD 7
Repeat514 – 55340WD 8
Domain1177 – 124771Bromo 1
Domain1330 – 140071Bromo 2
Compositional bias661 – 6688Poly-Gln
Compositional bias821 – 8244Poly-Ser
Compositional bias1539 – 154810Poly-Ser
Compositional bias1687 – 16926Poly-Glu

Amino acid modifications

Modified residue4181Phosphoserine Ref.7
Modified residue6961Phosphoserine Ref.8
Modified residue7011Phosphoserine Ref.8
Modified residue7911Phosphoserine Ref.7
Modified residue12751Phosphothreonine Ref.8
Modified residue12891Phosphoserine Ref.8
Modified residue14751Phosphoserine
Modified residue16051Phosphoserine Ref.8
Modified residue16071Phosphoserine Ref.8
Modified residue17551Phosphoserine By similarity
Modified residue17561Phosphoserine By similarity
Modified residue17861Phosphoserine Ref.8
Modified residue17881Phosphoserine Ref.8
Modified residue17931Phosphoserine Ref.8
Modified residue19041Phosphoserine Ref.8
Modified residue19051Phosphoserine Ref.8
Modified residue19071Phosphoserine Ref.8
Modified residue19101Phosphoserine Ref.8
Modified residue20181Phosphoserine Ref.8
Modified residue20201Phosphoserine Ref.8
Modified residue20521Phosphoserine By similarity

Natural variations

Alternative sequence2191 – 2320130EFVPR…KENAQ → GKTFTANISKTVRRQRQSKR PRLSVDDNDWEDLDYAKSKR VLRRSKIKTRNQGRRTVRYH DGDDDRSLENVLDFNGCTL in isoform B.
VSP_018526
Alternative sequence2191 – 228595EFVPR…LNVYK → DKTFSPVYL in isoform C.
VSP_018527
Alternative sequence2286 – 232035Missing in isoform C.
VSP_018528
Natural variant831Q → E: dbSNP rs2056844. Ref.3
VAR_026435
Natural variant15111S → P: dbSNP rs2183573. Ref.2
VAR_026436
Natural variant16991P → L: dbSNP rs1041439. Ref.4 Ref.6
VAR_026437
Natural variant21561K → R: dbSNP rs2234548.
VAR_057584

Experimental info

Sequence conflict1560 – 15623SSS → GTR in CAA10896. Ref.5
Sequence conflict18401M → V in AK002177. Ref.6
Sequence conflict21341E → G in AK002177. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform A [UniParc].

Last modified May 16, 2006. Version 3.
Checksum: 8DD714D1A3878254

FASTA2,320262,920
        10         20         30         40         50         60 
MAEPSSARRP VPLIESELYF LIARYLSAGP CRRAAQVLVQ ELEQYQLLPK RLDWEGNEHN 

        70         80         90        100        110        120 
RSYEELVLSN KHVAPDHLLQ ICQRIGPMLD KEIPPSISRV TSLLGAGRQS LLRTAKDCRH 

       130        140        150        160        170        180 
TVWKGSAFAA LHRGRPPEMP VNYGSPPNLV EIHRGKQLTG CSTFSTAFPG TMYQHIKMHR 

       190        200        210        220        230        240 
RILGHLSAVY CVAFDRTGHR IFTGSDDCLV KIWSTHNGRL LSTLRGHSAE ISDMAVNYEN 

       250        260        270        280        290        300 
TMIAAGSCDK IIRVWCLRTC APVAVLQGHT GSITSLQFSP MAKGSQRYMV STGADGTVCF 

       310        320        330        340        350        360 
WQWDLESLKF SPRPLKFTEK PRPGVQMLCS SFSVGGMFLA TGSTDHVIRM YFLGFEAPEK 

       370        380        390        400        410        420 
IAELESHTDK VDSIQFCNNG DRFLSGSRDG TARIWRFEQL EWRSILLDMA TRISGDLSSE 

       430        440        450        460        470        480 
EERFMKPKVT MIAWNQNDSI VVTAVNDHVL KVWNSYTGQL LHNLMGHADE VFVLETHPFD 

       490        500        510        520        530        540 
SRIMLSAGHD GSIFIWDITK GTKMKHYFNM IEGQGHGAVF DCKFSQDGQH FACTDSHGHL 

       550        560        570        580        590        600 
LIFGFGCSKP YEKIPDQMFF HTDYRPLIRD SNNYVLDEQT QQAPHLMPPP FLVDVDGNPH 

       610        620        630        640        650        660 
PTKYQRLVPG RENSADEHLI PQLGYVATSD GEVIEQIISL QTNDNDERSP ESSILDGMIR 

       670        680        690        700        710        720 
QLQQQQDQRM GADQDTIPRG LSNGEETPRR GFRRLSLDIQ SPPNIGLRRS GQVEGVRQMH 

       730        740        750        760        770        780 
QNAPRSQIAT ERDLQAWKRR VVVPEVPLGI FRKLEDFRLE KGEEERNLYI IGRKRKTLQL 

       790        800        810        820        830        840 
SHKSDSVVLV SQSRQRTCRR KYPNYGRRNR SWRELSSGNE SSSSVRHETS CDQSEGSGSS 

       850        860        870        880        890        900 
EEDEWRSDRK SESYSESSSD SSSRYSDWTA DAGINLQPPL RTSCRRRITR FCSSSEDEIS 

       910        920        930        940        950        960 
TENLSPPKRR RKRKKENKPK KENLRRMTPA ELANMEHLYE FHPPVWITDT TLRKSPFVPQ 

       970        980        990       1000       1010       1020 
MGDEVIYFRQ GHEAYIEAVR RNNIYELNPN KEPWRKMDLR DQELVKIVGI RYEVGPPTLC 

      1030       1040       1050       1060       1070       1080 
CLKLAFIDPA TGKLMDKSFS IRYHDMPDVI DFLVLRQFYD EARQRNWQSC DRFRSIIDDA 

      1090       1100       1110       1120       1130       1140 
WWFGTVLSQE PYQPQYPDSH FQCYIVRWDN TEIEKLSPWD MEPIPDNVDP PEELGASISV 

      1150       1160       1170       1180       1190       1200 
TTDELEKLLY KPQAGEWGQK SRDEECDRII SGIDQLLNLD IAAAFAGPVD LCTYPKYCTV 

      1210       1220       1230       1240       1250       1260 
VAYPTDLYTI RMRLVNRFYR RLSALVWEVR YIEHNARTFN EPESVIARSA KKITDQLLKF 

      1270       1280       1290       1300       1310       1320 
IKNQHCTNIS ELSNTSENDE QNAEDLDDSD LPKTSSGRRR VHDGKKSIRA TNYVESNWKK 

      1330       1340       1350       1360       1370       1380 
QCKELVNLIF QCEDSEPFRQ PVDLVEYPDY RDIIDTPMDF GTVRETLDAG NYDSPLEFCK 

      1390       1400       1410       1420       1430       1440 
DIRLIFSNAK AYTPNKRSKI YSMTLRLSAL FEEKMKKISS DFKIGQKFNE KLRRSQRFKQ 

      1450       1460       1470       1480       1490       1500 
RQNCKGDSQP NKSIRNLKPK RLKSQTKIIP ELVGSPTQST SSRTAYLGTH KTSAGISSGV 

      1510       1520       1530       1540       1550       1560 
TSGDSSDSAE SSERRKRNRP ITNGSTLSES EVEDSLATSL SSSASSSSEE SKESSRARES 

      1570       1580       1590       1600       1610       1620 
SSRSGLSRSS NLRVTRTRAA QRKTGPVSLA NGCGRKATRK RVYLSDSDNN SLETGEILKA 

      1630       1640       1650       1660       1670       1680 
RAGNNRKVLR KCAAVAANKI KLMSDVEENS SSESVCSGRK LPHRNASAVA RKKLLHNSED 

      1690       1700       1710       1720       1730       1740 
EQSLKSEIEE EELKDENQPL PVSSSHTAQS NVDESENRDS ESESDLRVAR KNWHANGYKS 

      1750       1760       1770       1780       1790       1800 
HTPAPSKTKF LKIESSEEDS KSHDSDHACN RTAGPSTSVQ KLKAESISEE ADSEPGRSGG 

      1810       1820       1830       1840       1850       1860 
RKYNTFHKNA SFFKKTKILS DSEDSESEEQ DREDGKCHKM EMNPISGNLN CDPIAMSQCS 

      1870       1880       1890       1900       1910       1920 
SDHGCETDLD SDDDKIEKPN NFMKDSASQD NGLSRKISRK RVCSSDSDSS LQVVKKSSKA 

      1930       1940       1950       1960       1970       1980 
RTGLLRITRR CAATAANKIK LMSDVEDVSL ENVHTRSKNG RKKPLHLACT TAKKKLSDCE 

      1990       2000       2010       2020       2030       2040 
GSVHCEVPSE QYACEGKPPD PDSEGSTKVL SQALNGDSDS EDMLNSEHKH RHTNIHKIDA 

      2050       2060       2070       2080       2090       2100 
PSKRKSSSVT SSGEDSKSHI PGSETDRTFS SESTLAQKAT AENNFEVELN YGLRRWNGRR 

      2110       2120       2130       2140       2150       2160 
LRTYGKAPFS KTKVIHDSQE TAEKEVKRKR SHPELENVKI SETTGNSKFR PDTSSKSSDL 

      2170       2180       2190       2200       2210       2220 
GSVTESDIDC TDNTKTKRRK TKGKAKVVRK EFVPRDREPN TKVRTCMHNQ KDAVQMPSET 

      2230       2240       2250       2260       2270       2280 
LKAKMVPEKV PRRCATVAAN KIKIMSNLKE TISGPENVWI RKSSRKLPHR NASAAAKKKL 

      2290       2300       2310       2320 
LNVYKEDDTT INSESEKELE DINRKMLFLR GFRSWKENAQ 

« Hide

Isoform B.

Checksum: 276D6ABE68C231F2
Show »

FASTA2,269257,222
Isoform C.

Checksum: A0B8757ED6977B67
Show »

FASTA2,199248,937

References

« Hide 'large scale' references
[1]"Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21."
Ramos V.C., Vidal-Taboada J.M., Bergonon S., Egeo A., Fisher E.M.C., Scartezzini P., Oliva R.
Biochim. Biophys. Acta 1577:377-383(2002) [PubMed: 12359327] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B), TISSUE SPECIFICITY.
[2]"Isolation and characterization of a new chromosome 21 gene, WDR9, with different alternatively spliced transcripts and different protein forms."
Scott H.S., Barras C., Mittaz L., Michaud J., Guidi S., Scamuffa N., Antonarakis S.
Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B), VARIANT PRO-1511.
[3]"Isolation of WDR9 cDNA on human chromosome 21q22.3."
Obayashi I., Shibuya K., Minoshima S., Kudoh J., Shimizu N.
Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS B AND C), VARIANT GLU-83.
Tissue: Pancreas.
[4]"The DNA sequence of human chromosome 21."
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. expand/collapse author list , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
Nature 405:311-319(2000) [PubMed: 10830953] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LEU-1699.
[5]"High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2."
Vidal-Taboada J.M., Bergonon S., Sanchez M., Lopez-Acedo C., Groet J., Nizetic D., Egeo A., Scartezzini P., Katsanis N., Fisher E.M.C., Delabar J.-M., Oliva R.
Biochem. Biophys. Res. Commun. 243:572-578(1998) [PubMed: 9480850] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1560-1779.
Tissue: Fetal heart.
[6]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1645-2320 (ISOFORM B), VARIANT LEU-1699.
Tissue: Placenta.
[7]"Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis."
Wang B., Malik R., Nigg E.A., Korner R.
Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-418 AND SER-791, MASS SPECTROMETRY.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-696; SER-701; THR-1275; SER-1289; SER-1605; SER-1607; SER-1786; SER-1788; SER-1793; SER-1904; SER-1905; SER-1907; SER-1910; SER-2018 AND SER-2020, MASS SPECTROMETRY.
[9]"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: 19690332] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1475; SER-1605; SER-1607; SER-2018 AND SER-2020, MASS SPECTROMETRY.
Tissue: T-cell.

Cross-references

Sequence databases

AJ238214 mRNA. Translation: CAC37033.2.
AJ292465 mRNA. Translation: CAC44371.1.
AJ292466 mRNA. Translation: CAC44372.1.
AB080586 mRNA. Translation: BAD74071.1.
AB080587 mRNA. Translation: BAD74072.1.
AL163279 Genomic DNA. Translation: CAB90452.1.
AJ222636 mRNA. Translation: CAA10896.1. Frameshift.
AK002177 mRNA. No translation available.
IPIIPI00250716.
IPI00289944.
IPI00746752.
RefSeqNP_061836.2.
NP_387505.1.
UniGeneHs.654740

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGQ9NSI6.

Proteomic databases

PRIDEQ9NSI6.

Genome annotation databases

EnsemblENST00000333229; ENSP00000330753; ENSG00000185658; Homo sapiens. [Genome view]
GeneID54014.
UCSCuc002yxk.1. human.
uc002yxl.1. human.

Organism-specific databases

CTD54014.
GeneCardsGC21M039480.
H-InvDBHIX0016115.
HGNCHGNC:12760. BRWD1.
PharmGKBPA134906879.
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ9NSI6.
InParanoidQ9NSI6.

Enzyme and pathway databases

BioCycCATTLE:ENSBTAG00000013602-MON.

Gene expression databases

ArrayExpressQ9NSI6.
BgeeQ9NSI6.
CleanExHS_BRWD1.
GenevestigatorQ9NSI6.
GermOnlineENSG00000185658. Homo sapiens.

Family and domain databases

InterProIPR001487. Bromodomain.
IPR018359. Bromodomain_CS.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR011046. WD40_repeat-like_dom.
IPR019782. WD40_repeat_2.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
IPR019781. WD40_repeat_sg.
[Graphical view]
Gene3DG3DSA:1.20.920.10. Bromodomain. 2 hits.
G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 2 hits.
PfamPF00439. Bromodomain. 2 hits.
PF00400. WD40. 6 hits.
[Graphical view]
PRINTSPR00503. BROMODOMAIN.
SMARTSM00297. BROMO. 2 hits.
SM00320. WD40. 8 hits.
[Graphical view]
PROSITEPS00633. BROMODOMAIN_1. 1 hit.
PS50014. BROMODOMAIN_2. 2 hits.
PS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 6 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio56274.

Entry information

Entry nameBRWD1_HUMAN
AccessionPrimary (citable) accession number: Q9NSI6
Secondary accession number(s): O43721 expand/collapse secondary AC list , Q5R2V0, Q5R2V1, Q8TCV3, Q96QG9, Q96QH0, Q9NUK1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: May 16, 2006
Last modified: December 15, 2009
This is version 96 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

Relevant documents

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents