Q6UB99 (ANR11_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ankyrin repeat domain-containing protein 11

Alternative name(s):
Ankyrin repeat-containing cofactor 1

Gene names

Name:	ANKRD11
Synonyms:	ANCO1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	2663 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation.
Subunit structure	Interacts with the PAS region of the p160 coactivators. Ref.2
Subcellular location	Nucleus Ref.1 Ref.2.
Involvement in disease	Defects in ANKRD11 are the cause of KBG syndrome (KBGS) [MIM:148050]. A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability. Ref.9
Sequence similarities	Contains 4 ANK repeats.
Sequence caution	The sequence AAH69013.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

Ontologies

Keywords
Cellular component	Nucleus
Disease	Dwarfism Mental retardation
Domain	ANK repeat Repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2663	2663	Ankyrin repeat domain-containing protein 11		PRO_0000066907
Regions
	Repeat	167 – 196	30	ANK 1
	Repeat	200 – 229	30	ANK 2
	Repeat	233 – 262	30	ANK 3
	Repeat	266 – 292	27	ANK 4
	Compositional bias	478 – 588	111	Ser-rich
	Compositional bias	621 – 1655	1035	Lys-rich
	Compositional bias	1824 – 2365	542	Pro-rich
Amino acid modifications
	Modified residue	276	1	Phosphoserine Ref.6 Ref.7 Ref.8
	Modified residue	408	1	Phosphoserine Ref.5 Ref.6 Ref.8
	Modified residue	410	1	Phosphothreonine Ref.5 Ref.6 Ref.8
	Modified residue	411	1	Phosphoserine Ref.5 Ref.6 Ref.8
	Modified residue	834	1	Phosphoserine Ref.6
	Modified residue	843	1	Phosphoserine Ref.5
	Modified residue	846	1	Phosphoserine Ref.5
	Modified residue	848	1	Phosphoserine Ref.5
	Modified residue	849	1	Phosphoserine Ref.5
	Modified residue	1120	1	Phosphothreonine Ref.6
	Modified residue	1123	1	Phosphoserine Ref.6
	Modified residue	1419	1	Phosphothreonine Ref.6 Ref.8
	Modified residue	1509	1	Phosphoserine Ref.5
	Modified residue	1792	1	Phosphoserine Ref.6
	Modified residue	1847	1	Phosphoserine Ref.6
	Modified residue	1852	1	Phosphoserine Ref.6
	Modified residue	1859	1	Phosphoserine Ref.6
	Modified residue	1983	1	Phosphoserine Ref.5
	Modified residue	1990	1	Phosphoserine Ref.5
Experimental info
	Sequence conflict	76	1	E → EE in AAR25661. Ref.1
	Sequence conflict	971	1	A → V in AAR25661. Ref.1
	Sequence conflict	971	1	A → V in AAS45544. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q6UB99 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 845B04094AF37CFE	FASTA	2,663	297,913
	10 20 30 40 50 60 MPKGGCPKAP QQEELPLSSD MVEKQTGKKD KDKVSLTKTP KLERGDGGKE VRERASKRKL 70 80 90 100 110 120 PFTAGANGEQ KDSDTEKQGP ERKRIKKEPV TRKAGLLFGM GLSGIRAGYP LSERQQVALL 130 140 150 160 170 180 MQMTAEESAN SPVDTTPKHP SQSTVCQKGT PNSASKTKDK VNKRNERGET RLHRAAIRGD 190 200 210 220 230 240 ARRIKELISE GADVNVKDFA GWTALHEACN RGYYDVAKQL LAAGAEVNTK GLDDDTPLHD 250 260 270 280 290 300 AANNGHYKVV KLLLRYGGNP QQSNRKGETP LKVANSPTMV NLLLGKGTYT SSEESSTESS 310 320 330 340 350 360 EEEDAPSFAP SSSVDGNNTD SEFEKGLKHK AKNPEPQKAT APVKDEYEFD EDDEQDRVPP 370 380 390 400 410 420 VDDKHLLKKD YRKETKSNSF ISIPKMEVKS YTKNNTIAPK KASHRILSDT SDEEDASVTV 430 440 450 460 470 480 GTGEKLRLSA HTILPGSKTR EPSNAKQQKE KNKVKKKRKK ETKGREVRFG KRSDKFCSSE 490 500 510 520 530 540 SESESSESGE DDRDSLGSSG CLKGSPLVLK DPSLFSSLSA SSTSSHGSSA AQKQNPSHTD 550 560 570 580 590 600 QHTKHWRTDN WKTISSPAWS EVSSLSDSTR TRLTSESDYS SEGSSVESLK PVRKRQEHRK 610 620 630 640 650 660 RASLSEKKSP FLSSAEGAVP KLDKEGKVVK KHKTKHKHKN KEKGQCSISQ ELKLKSFTYE 670 680 690 700 710 720 YEDSKQKSDK AILLENDLST ENKLKVLKHD RDHFKKEEKL SKMKLEEKEW LFKDEKSLKR 730 740 750 760 770 780 IKDTNKDISR SFREEKDRSN KAEKERSLKE KSPKEEKLRL YKEERKKKSK DRPSKLEKKN 790 800 810 820 830 840 DLKEDKISKE KEKIFKEDKE KLKKEKVYRE DSAFDEYCNK NQFLENEDTK FSLSDDQRDR 850 860 870 880 890 900 WFSDLSDSSF DFKGEDSWDS PVTDYRDMKS DSVAKLILET VKEDSKERRR DSRAREKRDY 910 920 930 940 950 960 REPFFRKKDR DYLDKNSEKR KEQTEKHKSV PGYLSEKDKK RRESAEAGRD RKDALESCKE 970 980 990 1000 1010 1020 RRDGRAKPEE AHREELKECG CESGFKDKSD GDFGKGLEPW ERHHPAREKE KKDGPDKERK 1030 1040 1050 1060 1070 1080 EKTKPERYKE KSSDKDKSEK SILEKCQKDK EFDKCFKEKK DTKEKHKDTH GKDKERKASL 1090 1100 1110 1120 1130 1140 DQGKEKKEKA FPGIISEDFS EKKDDKKGKE KSWYIADIFT DESEDDRDSC MGSGFKMGEA 1150 1160 1170 1180 1190 1200 SDLPRTDGLQ EKEEGREAYA SDRHRKSSDK QHPERQKDKE PRDRRKDRGA ADAGRDKKEK 1210 1220 1230 1240 1250 1260 VFEKHKEKKD KESTEKYKDR KDRASVDSTQ DKKNKQKLPE KAEKKHAAED KAKSKHKEKS 1270 1280 1290 1300 1310 1320 DKEHSKERKS SRSADAEKSL LEKLEEEALH EYREDSNDKI SEVSSDSFTD RGQEPGLTAF 1330 1340 1350 1360 1370 1380 LEVSFTEPPG DDKPRESACL PEKLKEKERH RHSSSSSKKS HDRERAKKEK AEKKEKGEDY 1390 1400 1410 1420 1430 1440 KEGGSRKDSG QYEKDFLEAD AYGVSYNMKA DIEDELDKTI ELFSTEKKDK NDSEREPSKK 1450 1460 1470 1480 1490 1500 IEKELKPYGS SAINILKEKK KREKHREKWR DEKERHRDRH ADGLLRHHRD ELLRHHRDEQ 1510 1520 1530 1540 1550 1560 KPATRDKDSP PRVLKDKSRD EGPRLGDAKL KEKFKDGAEK EKGDPVKMSN GNDKVAPSKD 1570 1580 1590 1600 1610 1620 PGKKDARPRE KLLGDGDLMM TSFERMLSQK DLEIEERHKR HKERMKQMEK LRHRSGDPKL 1630 1640 1650 1660 1670 1680 KEKAKPADDG RKKGLDIPAK KPPGLDPPFK DKKLKESTPI PPAAENKLHP ASGADSKDWL 1690 1700 1710 1720 1730 1740 AGPHMKEVLP ASPRPDQSRP TGVPTPTSVL SCPSYEEVMH TPRTPSCSAD DYADLVFDCA 1750 1760 1770 1780 1790 1800 DSQHSTPVPT APTSACSPSF FDRFSVASSG LSENASQAPA RPLSTNLYRS VSVDIRRTPE 1810 1820 1830 1840 1850 1860 EEFSVGDKLF RQQSVPAASS YDSPMPPSME DRAPLPPVPA EKFACLSPGY YSPDYGLPSP 1870 1880 1890 1900 1910 1920 KVDALHCPPA AVVTVTPSPE GVFSSLQAKP SPSPRAELLV PSLEGALPPD LDTSEDQQAT 1930 1940 1950 1960 1970 1980 AAIIPPEPSY LEPLDEGPFS AVITEEPVEW AHPSEQALAS SLIGGTSENP VSWPVGSDLL 1990 2000 2010 2020 2030 2040 LKSPQRFPES PKRFCPADPL HSAAPGPFSA SEAPYPAPPA SPAPYALPVA EPGLEDVKDG 2050 2060 2070 2080 2090 2100 VDAVPAAIST SEAAPYAPPS GLESFFSNCK SLPEAPLDVA PEPACVAAVA QVEALGPLEN 2110 2120 2130 2140 2150 2160 SFLDGSRGLS HLGQVEPVPW ADAFAGPEDD LDLGPFSLPE LPLQTKDAAD GEAEPVEESL 2170 2180 2190 2200 2210 2220 APPEEMPPGA PGVINGGDVS TVVAEEPPAL PPDQASTRLP AELEPEPSGE PKLDVALEAA 2230 2240 2250 2260 2270 2280 VEAETVPEER ARGDPDSSVE PAPVPPEQRP LGSGDQGAEA EGPPAASLCA PDGPAPNTVA 2290 2300 2310 2320 2330 2340 QAQAADGAGP EDDTEASRAA APAEGPPGGI QPEAAEPKPT AEAPKAPRVE EIPQRMTRNR 2350 2360 2370 2380 2390 2400 AQMLANQSKQ GPPPSEKECA PTPAPVTRAK ARGSEDDDAQ AQHPRKRRFQ RSTQQLQQQL 2410 2420 2430 2440 2450 2460 NTSTQQTREV IQQTLAAIVD AIKLDAIEPY HSDRANPYFE YLQIRKKIEE KRKILCCITP 2470 2480 2490 2500 2510 2520 QAPQCYAEYV TYTGSYLLDG KPLSKLHIPV IAPPPSLAEP LKELFRQQEA VRGKLRLQHS 2530 2540 2550 2560 2570 2580 IEREKLIVSC EQEILRVHCR AARTIANQAV PFSACTMLLD SEVYNMPLES QGDENKSVRD 2590 2600 2610 2620 2630 2640 RFNARQFISW LQDVDDKYDR MKTCLLMRQQ HEAAALNAVQ RMEWQLKVQE LDPAGHKSLC 2650 2660 VNEVPSFYVP MVDVNDDFVL LPA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"ANKRD11 and ANKRD12 are novel 9kb genes encoding nuclear-located proteins with ankyrin domains." Powell J.A., Settasatian C., Lower K., Callen D.F. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION.
[2]	"Identification of a novel family of ankyrin repeats-containing cofactors for p160 nuclear receptor coactivators." Zhang A., Yeung P.L., Li C.-W., Tsai S.-C., Dinh G.K., Wu X., Li H., Chen J.D. J. Biol. Chem. 279:33799-33805(2004) [PubMed: 15184363] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, INTERACTION WITH P160.
[3]	"The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A. Nature 432:988-994(2004) [PubMed: 15616553] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-451. Tissue: Pancreas.
[5]	"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: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-408; THR-410; SER-411; SER-843; SER-846; SER-848; SER-849; SER-1509; SER-1983 AND SER-1990, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"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-276; SER-408; THR-410; SER-411; SER-834; THR-1120; SER-1123; THR-1419; SER-1792; SER-1847; SER-1852 AND SER-1859, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-276, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[8]	"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-276; SER-408; THR-410; SER-411 AND THR-1419, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[9]	"Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia." Sirmaci A., Spiliopoulos M., Brancati F., Powell E., Duman D., Abrams A., Bademci G., Agolini E., Guo S., Konuk B., Kavaz A., Blanton S., Digilio M.C., Dallapiccola B., Young J., Zuchner S., Tekin M. Am. J. Hum. Genet. 89:289-294(2011) [PubMed: 21782149] [Abstract] Cited for: INVOLVEMENT IN KBGS.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY373756 mRNA. Translation: AAR25661.1. AY533563 mRNA. Translation: AAS45544.1. AC137932 Genomic DNA. No translation available. BC069013 mRNA. Translation: AAH69013.1. Sequence problems.
IPI	IPI00914930.
RefSeq	NP_037407.4. NM_013275.4.
UniGene	Hs.335003.
3D structure databases
ProteinModelPortal	Q6UB99.
SMR	Q6UB99. Positions 116-287.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6UB99. 8 interactions.
STRING	Q6UB99.
PTM databases
PhosphoSite	Q6UB99.
Polymorphism databases
DMDM	296439440.
Proteomic databases
PRIDE	Q6UB99.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000301030; ENSP00000301030; ENSG00000167522.
GeneID	29123.
KEGG	hsa:29123.
UCSC	uc002fmx.1. human.
Organism-specific databases
CTD	29123.
GeneCards	GC16M089334.
H-InvDB	HIX0013356.
HGNC	HGNC:21316. ANKRD11.
HPA	CAB019288.
MIM	148050. phenotype. 611192. gene.
neXtProt	NX_Q6UB99.
Orphanet	261250. 16q24.3 microdeletion syndrome.
PharmGKB	PA134861925.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG446846.
HOVERGEN	HBG106759.
InParanoid	Q6UB99.
OMA	VSCPSYE.
OrthoDB	EOG4229HW.
PhylomeDB	Q6UB99.
Gene expression databases
ArrayExpress	Q6UB99.
Bgee	Q6UB99.
CleanEx	HS_ANKRD11.
Genevestigator	Q6UB99.
GermOnline	ENSG00000167522. Homo sapiens.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF00023. Ank. 1 hit. PF12796. Ank_2. 1 hit. [Graphical view]
SMART	SM00248. ANK. 3 hits. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 3 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	52224.
SOURCE	Search...

Entry information

Entry name

ANR11_HUMAN

Accession

Primary (citable) accession number: Q6UB99
Secondary accession number(s): Q6NTG1, Q6QMF8

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2004
Last sequence update:	May 18, 2010
Last modified:	January 25, 2012
This is version 72 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.