Skip Header

 
Contribute Send feedback
Read comments (0) or add your own

Reviewed, UniProtKB/Swiss-Prot Q9C0F0 (ASXL3_HUMAN)

Last modified November 24, 2009. Version 39. 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:
    Putative Polycomb group protein ASXL3
Alternative name(s):
    Additional sex combs-like protein 3
Gene names
Name: ASXL3
Synonyms: KIAA1713
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2248 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at transcript level.

General annotation (Comments)

Function

Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility By similarity.

Subcellular location

Nucleus Probable.

Tissue specificity

Expressed in pancreatic islet, testis, neuroblastoma, head and neck tumor. Ref.6

Sequence similarities

Belongs to the Asx family.

Contains 3 LRR (leucine-rich) repeats.

Contains 1 PHD-type zinc finger.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainLeucine-rich repeat
Repeat
Zinc-finger
   LigandMetal-binding
Zinc
   Molecular functionRepressor
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processregulation of transcription

Inferred from electronic annotation. Source: UniProtKB-KW

transcription

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionzinc ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9C0F0-1)

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 2 (identifier: Q9C0F0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-293: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9C0F0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1239-1254: SVCSTAISGAIKEHPF → KKKKKKKRAAALVLSL
     1255-2248: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 22482248Putative Polycomb group protein ASXL3
PRO_0000320670

Regions

Repeat260 – 28122LRR 1
Repeat496 – 52126LRR 2
Repeat1556 – 158126LRR 3
Zinc finger2210 – 224738PHD-type; atypical
Compositional bias609 – 787179Ser-rich
Compositional bias1051 – 108030Ala-rich
Compositional bias1199 – 1357159Ser-rich
Compositional bias2017 – 205842Pro-rich

Natural variations

Alternative sequence1 – 293293Missing in isoform 2.
VSP_031717
Alternative sequence1239 – 125416SVCST…KEHPF → KKKKKKKRAAALVLSL in isoform 3.
VSP_031718
Alternative sequence1255 – 2248994Missing in isoform 3.
VSP_031719
Natural variant9541N → S: dbSNP rs2282632. Ref.3 Ref.5
VAR_039267
Natural variant14151M → R: dbSNP rs16964887.
VAR_039268
Natural variant16521V → M: dbSNP rs17746949.
VAR_039269
Natural variant17081M → V: dbSNP rs7232237. Ref.3 Ref.2
VAR_039270

Experimental info

Sequence conflict7271E → K in BAD18599. Ref.2
Sequence conflict10791A → V in CAB61377. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 26, 2008. Version 3.
Checksum: E8BAC62B817F904D

FASTA2,248241,919
        10         20         30         40         50         60 
MKDKRKKKDR TWAEAARLAL EKHPNSPMTA KQILEVIQKE GLKETSGTSP LACLNAMLHT 

        70         80         90        100        110        120 
NTRIGDGTFF KIPGKSGLYA LKKEESSCPA DGTLDLVCES ELDGTDMAEA NAHGEENGVC 

       130        140        150        160        170        180 
SKQVTDEASS TRDSSLTNTA VQSKLVSSFQ QHTKKALKQA LRQQQKRRNG VSMMVNKTVP 

       190        200        210        220        230        240 
RVVLTPLKVS DEQSDSPSGS ESKNGEADSS DKEMKHGQKS PTGKQTSQHL KRLKKSGLGH 

       250        260        270        280        290        300 
LKWTKAEDID IETPGSILVN TNLRALINKH TFASLPQHFQ QYLLLLLPEV DRQMGSDGIL 

       310        320        330        340        350        360 
RLSTSALNNE FFAYAAQGWK QRLAEGEFTP EMQLRIRQEI EKEKKTEPWK EKFFERFYGE 

       370        380        390        400        410        420 
KLGMSREESV KLTTGPNNAG AQSSSSCGTS GLPVSAQTAL AEQQPKSMKS PASPEPGFCA 

       430        440        450        460        470        480 
TLCPMVEIPP KDIMAELESE DILIPEESVI QEEIAEEVET SICECQDENH KTIPEFSEEA 

       490        500        510        520        530        540 
ESLTNSHEEP QIAPPEDNLE SCVMMNDVLE TLPHIEVKIE GKSESPQEEM TVVIDQLEVC 

       550        560        570        580        590        600 
DSLIPSTSSM THVSDTEHKE SETAVETSTP KIKTGSSSLE GQFPNEGIAI DMELQSDPEE 

       610        620        630        640        650        660 
QLSENACISE TSFSSESPEG ACTSLPSPGG ETQSTSEESC TPASLETTFC SEVSSTENTD 

       670        680        690        700        710        720 
KYNQRNSTDE NFHASLMSEI SPISTSPEIS EASLMSNLPL TSEASPVSNL PLTSETSPMS 

       730        740        750        760        770        780 
DLPLTSETSS VSSMLLTSET TFVSSLPLPS ETSPISNSSI NERMAHQQRK SPSVSEEPLS 

       790        800        810        820        830        840 
PQKDESSATA KPLGENLTSQ QKNLSNTPEP IIMSSSSIAP EAFPSEDLHN KTLSQQTCKS 

       850        860        870        880        890        900 
HVDTEKPYPA SIPELASTEM IKVKNHSVLQ RTEKKVLPSP LELSVFSEGT DNKGNELPSA 

       910        920        930        940        950        960 
KLQDKQYISS VDKAPFSEGS RNKTHKQGST QSRLETSHTS KSSEPSKSPD GIRNESRDSE 

       970        980        990       1000       1010       1020 
ISKRKTAEQH SFGICKEKRA RIEDDQSTRN ISSSSPPEKE QPPREEPRVP PLKIQLSKIG 

      1030       1040       1050       1060       1070       1080 
PPFIIKSQPV SKPESRASTS TSVSGGRNTG ARTLADIKAR AQQARAQREA AAAAAVAAAA 

      1090       1100       1110       1120       1130       1140 
SIVSGAMGSP GEGGKTRTLA HIKEQTKAKL FAKHQARAHL FQTSKETRLP PPLSSKEGPP 

      1150       1160       1170       1180       1190       1200 
NLEVSSTPET KMEGSTGVII VNPNCRSPSN KSAHLRETTT VLQQSLNPSK LPETATDLSV 

      1210       1220       1230       1240       1250       1260 
HSSDENIPVS HLSEKIVSST SSENSSVPML FNKNSVPVSV CSTAISGAIK EHPFVSSVDK 

      1270       1280       1290       1300       1310       1320 
SSVLMSVDSA NTTISACNIS MLKTIQGTDT PCIAIIPKCI ESTPISATTE GSSISSSMDD 

      1330       1340       1350       1360       1370       1380 
KQLLISSSSA SNLVSTQYTS VPTPSIGNNL PNLSTSSVLI PPMGINNRFP SEKIAIPGSE 

      1390       1400       1410       1420       1430       1440 
EQATVSMGTT VRAALSCSDS VAVTDSLVAH PTVAMFTGNM LTINSYDSPP KLSAESLDKN 

      1450       1460       1470       1480       1490       1500 
SGPRNRADNS GKPQQPPGGF APAAINRSIP CKVIVDHSTT LTSSLSLTVS VESSEASLDL 

      1510       1520       1530       1540       1550       1560 
QGRPVRTEAS VQPVACPQVS VISRPEPVAN EGIDHSSTFI AASAAKQDSK TLPATCTSLR 

      1570       1580       1590       1600       1610       1620 
ELPLVPDKLN EPTAPSHNFA EQARGPAPFK SEADTTCSNQ YNPSNRICWN DDGMRSTGQP 

      1630       1640       1650       1660       1670       1680 
LVTHSGSSKQ KEYLEQSCPK AIKTEHANYL NVSELHPRNL VTNVALPVKS ELHEADKGFR 

      1690       1700       1710       1720       1730       1740 
MDTEDFPGPE LPPPAAEGAS SVQQTQNMKA STSSPMEEAI SLATDALKRV PGAGSSGCRL 

      1750       1760       1770       1780       1790       1800 
SSVEANNPLV TQLLQGNLPL EKVLPQPRLG AKLEINRLPL PLQTTSVGKT APERNVEIPP 

      1810       1820       1830       1840       1850       1860 
SSPNPDGKGY LAGTLAPLQM RKRENHPKKR VARTVGEHTQ VKCEPGKLLV EPDVKGVPCV 

      1870       1880       1890       1900       1910       1920 
ISSGISQLGH SQPFKQEWLN KHSMQNRIVH SPEVKQQKRL LPSCSFQQNL FHVDKNGGFH 

      1930       1940       1950       1960       1970       1980 
TDAGTSHRQQ FYQMPVAARG PIPTAALLQA SSKTPVGCNA FAFNRHLEQK GLGEVSLSSA 

      1990       2000       2010       2020       2030       2040 
PHQLRLANML SPNMPMKEGD EVGGTAHTMP NKALVHPPPP PPPPPPPPLA LPPPPPPPPP 

      2050       2060       2070       2080       2090       2100 
LPPPLPNAEV PSDQKQPPVT METTKRLSWP QSTGICSNIK SEPLSFEEGL SSSCELGMKQ 

      2110       2120       2130       2140       2150       2160 
VSYDQNEMKE QLKAFALKSA DFSSYLLSEP QKPFTQLAAQ KMQVQQQQQL CGNYPTIHFG 

      2170       2180       2190       2200       2210       2220 
STSFKRAASA IEKSIGILGS GSNPATGLSG QNAQMPVQNF ADSSNADELE LKCSCRLKAM 

      2230       2240 
IVCKGCGAFC HDDCIGPSKL CVACLVVR 

« Hide

Isoform 2.

Checksum: BFD23FA2D4E83C5E
Show »

FASTA1,955209,679
Isoform 3.

Checksum: 9B69C5516D50595D
Show »

FASTA1,254136,233

References

« Hide 'large scale' references
[1]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed: 16177791] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"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 1-1238 (ISOFORM 2), VARIANT VAL-1708.
Tissue: Testis.
[3]"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
DNA Res. 7:347-355(2000) [PubMed: 11214970] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 597-2248, VARIANTS SER-954 AND VAL-1708.
Tissue: Brain.
[4]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract]
Cited for: SEQUENCE REVISION.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 818-2248 (ISOFORM 3), VARIANT SER-954.
Tissue: Testis.
[6]"Identification and characterization of ASXL3 gene in silico."
Katoh M., Katoh M.
Int. J. Oncol. 24:1617-1622(2004) [PubMed: 15138607] [Abstract]
Cited for: IDENTIFICATION, TISSUE SPECIFICITY.

Cross-references

Sequence databases

AC023192 Genomic DNA. No translation available.
AC090989 Genomic DNA. No translation available.
AC010798 Genomic DNA. No translation available.
AK056450 mRNA. Translation: BAB71186.1. Different initiation.
AK131454 mRNA. Translation: BAD18599.1.
AB051500 mRNA. Translation: BAB21804.2.
AL133050 mRNA. Translation: CAB61377.1.
IPIIPI00853376.
IPI00885069.
IPI00885096.
PIRT42653.
RefSeqNP_085135.1.
UniGeneHs.464876

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGQ9C0F0.

PTM databases

PhosphoSiteQ9C0F0.

Proteomic databases

PRIDEQ9C0F0.

Genome annotation databases

EnsemblENST00000269197; ENSP00000269197; ENSG00000141431; Homo sapiens. [Genome view]
GeneID80816.
KEGGhsa:80816.
UCSCuc002kxq.2. human.
uc010dmg.1. human.

Organism-specific databases

CTD80816.
GeneCardsGC18P029413.
HGNCHGNC:29357. ASXL3.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ9C0F0.
OMAPSDQKQP
OrthoDBEOG9HB155

Gene expression databases

ArrayExpressQ9C0F0.
BgeeQ9C0F0.
CleanExHS_ASXL3.
GenevestigatorQ9C0F0.

Family and domain databases

PROSITEPS01359. ZF_PHD_1. False negative.
PS50016. ZF_PHD_2. False negative.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio71202.

Entry information

Entry nameASXL3_HUMAN
AccessionPrimary (citable) accession number: Q9C0F0
Secondary accession number(s): Q6ZMX6, Q96MU3, Q9UFC5
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: November 24, 2009
This is version 39 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 18

Human chromosome 18: 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