Seroatlas · Human Serome Atlas

ANKRD11

Ankyrin repeat domain-containing protein 11

Also known as: ANCO-1, ANCO1, ANR11_HUMAN, LZ16, T13

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q6UB99
Gene: ANKRD11
Ensembl: ENSG00000167522
Chromosome: 16
Canonical length: 2663 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]

Canonical amino-acid sequenceUniProt

2663 residues, UniProt reviewed canonical sequence.

>Q6UB99|ANKRD11
     1  MPKGGCPKAP QQEELPLSSD MVEKQTGKKD KDKVSLTKTP KLERGDGGKE VRERASKRKL
    61  PFTAGANGEQ KDSDTEKQGP ERKRIKKEPV TRKAGLLFGM GLSGIRAGYP LSERQQVALL
   121  MQMTAEESAN SPVDTTPKHP SQSTVCQKGT PNSASKTKDK VNKRNERGET RLHRAAIRGD
   181  ARRIKELISE GADVNVKDFA GWTALHEACN RGYYDVAKQL LAAGAEVNTK GLDDDTPLHD
   241  AANNGHYKVV KLLLRYGGNP QQSNRKGETP LKVANSPTMV NLLLGKGTYT SSEESSTESS
   301  EEEDAPSFAP SSSVDGNNTD SEFEKGLKHK AKNPEPQKAT APVKDEYEFD EDDEQDRVPP
   361  VDDKHLLKKD YRKETKSNSF ISIPKMEVKS YTKNNTIAPK KASHRILSDT SDEEDASVTV
   421  GTGEKLRLSA HTILPGSKTR EPSNAKQQKE KNKVKKKRKK ETKGREVRFG KRSDKFCSSE
   481  SESESSESGE DDRDSLGSSG CLKGSPLVLK DPSLFSSLSA SSTSSHGSSA AQKQNPSHTD
   541  QHTKHWRTDN WKTISSPAWS EVSSLSDSTR TRLTSESDYS SEGSSVESLK PVRKRQEHRK
   601  RASLSEKKSP FLSSAEGAVP KLDKEGKVVK KHKTKHKHKN KEKGQCSISQ ELKLKSFTYE
   661  YEDSKQKSDK AILLENDLST ENKLKVLKHD RDHFKKEEKL SKMKLEEKEW LFKDEKSLKR
   721  IKDTNKDISR SFREEKDRSN KAEKERSLKE KSPKEEKLRL YKEERKKKSK DRPSKLEKKN
   781  DLKEDKISKE KEKIFKEDKE KLKKEKVYRE DSAFDEYCNK NQFLENEDTK FSLSDDQRDR
   841  WFSDLSDSSF DFKGEDSWDS PVTDYRDMKS DSVAKLILET VKEDSKERRR DSRAREKRDY
   901  REPFFRKKDR DYLDKNSEKR KEQTEKHKSV PGYLSEKDKK RRESAEAGRD RKDALESCKE
   961  RRDGRAKPEE AHREELKECG CESGFKDKSD GDFGKGLEPW ERHHPAREKE KKDGPDKERK
  1021  EKTKPERYKE KSSDKDKSEK SILEKCQKDK EFDKCFKEKK DTKEKHKDTH GKDKERKASL
  1081  DQGKEKKEKA FPGIISEDFS EKKDDKKGKE KSWYIADIFT DESEDDRDSC MGSGFKMGEA
  1141  SDLPRTDGLQ EKEEGREAYA SDRHRKSSDK QHPERQKDKE PRDRRKDRGA ADAGRDKKEK
  1201  VFEKHKEKKD KESTEKYKDR KDRASVDSTQ DKKNKQKLPE KAEKKHAAED KAKSKHKEKS
  1261  DKEHSKERKS SRSADAEKSL LEKLEEEALH EYREDSNDKI SEVSSDSFTD RGQEPGLTAF
  1321  LEVSFTEPPG DDKPRESACL PEKLKEKERH RHSSSSSKKS HDRERAKKEK AEKKEKGEDY
  1381  KEGGSRKDSG QYEKDFLEAD AYGVSYNMKA DIEDELDKTI ELFSTEKKDK NDSEREPSKK
  1441  IEKELKPYGS SAINILKEKK KREKHREKWR DEKERHRDRH ADGLLRHHRD ELLRHHRDEQ
  1501  KPATRDKDSP PRVLKDKSRD EGPRLGDAKL KEKFKDGAEK EKGDPVKMSN GNDKVAPSKD
  1561  PGKKDARPRE KLLGDGDLMM TSFERMLSQK DLEIEERHKR HKERMKQMEK LRHRSGDPKL
  1621  KEKAKPADDG RKKGLDIPAK KPPGLDPPFK DKKLKESTPI PPAAENKLHP ASGADSKDWL
  1681  AGPHMKEVLP ASPRPDQSRP TGVPTPTSVL SCPSYEEVMH TPRTPSCSAD DYADLVFDCA
  1741  DSQHSTPVPT APTSACSPSF FDRFSVASSG LSENASQAPA RPLSTNLYRS VSVDIRRTPE
  1801  EEFSVGDKLF RQQSVPAASS YDSPMPPSME DRAPLPPVPA EKFACLSPGY YSPDYGLPSP
  1861  KVDALHCPPA AVVTVTPSPE GVFSSLQAKP SPSPRAELLV PSLEGALPPD LDTSEDQQAT
  1921  AAIIPPEPSY LEPLDEGPFS AVITEEPVEW AHPSEQALAS SLIGGTSENP VSWPVGSDLL
  1981  LKSPQRFPES PKRFCPADPL HSAAPGPFSA SEAPYPAPPA SPAPYALPVA EPGLEDVKDG
  2041  VDAVPAAIST SEAAPYAPPS GLESFFSNCK SLPEAPLDVA PEPACVAAVA QVEALGPLEN
  2101  SFLDGSRGLS HLGQVEPVPW ADAFAGPEDD LDLGPFSLPE LPLQTKDAAD GEAEPVEESL
  2161  APPEEMPPGA PGVINGGDVS TVVAEEPPAL PPDQASTRLP AELEPEPSGE PKLDVALEAA
  2221  VEAETVPEER ARGDPDSSVE PAPVPPEQRP LGSGDQGAEA EGPPAASLCA PDGPAPNTVA
  2281  QAQAADGAGP EDDTEASRAA APAEGPPGGI QPEAAEPKPT AEAPKAPRVE EIPQRMTRNR
  2341  AQMLANQSKQ GPPPSEKECA PTPAPVTRAK ARGSEDDDAQ AQHPRKRRFQ RSTQQLQQQL
  2401  NTSTQQTREV IQQTLAAIVD AIKLDAIEPY HSDRANPYFE YLQIRKKIEE KRKILCCITP
  2461  QAPQCYAEYV TYTGSYLLDG KPLSKLHIPV IAPPPSLAEP LKELFRQQEA VRGKLRLQHS
  2521  IEREKLIVSC EQEILRVHCR AARTIANQAV PFSACTMLLD SEVYNMPLES QGDENKSVRD
  2581  RFNARQFISW LQDVDDKYDR MKTCLLMRQQ HEAAALNAVQ RMEWQLKVQE LDPAGHKSLC
  2641  VNEVPSFYVP MVDVNDDFVL LPA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ANKRD11 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.63
Highest tissue expression: 63 nTPM

Expression across tissuesHPA

Tissue

pituitary gland: 63 nTPM
ovary: 55 nTPM
cerebral cortex: 53 nTPM
bone marrow: 51 nTPM
spleen: 50 nTPM
esophagus: 50 nTPM

Single-cell type

neutrophils: 1,162 nCPM
pdcs: 690 nCPM
endometrial glandular cells: 626 nCPM
endometrial luminal cells: 488 nCPM
neutrophil progenitors: 464 nCPM
thymocytes: 461 nCPM

Immune cell

neutrophil: 8.5 nTPM
basophil: 7.6 nTPM
NK-cell: 7.4 nTPM
plasmacytoid DC: 5.4 nTPM
non-classical monocyte: 5.1 nTPM
memory CD8 T-cell: 3.3 nTPM

Brain region

hippocampal formation: 107 nTPM
amygdala: 100 nTPM
cerebral cortex: 98 nTPM
medulla oblongata: 94 nTPM
white matter: 89 nTPM
thalamus: 86 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ANKRD11.

Disease | AllUniProt

Conditions ANKRD11 is implicated in, by any mechanism.

KBG syndrome (KBGS) MIM:148050

Disease | GeneticClinVar

683 pathogenic / likely-pathogenic of 3,396 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.11
gnomAD pLI: 1
gnomAD missense Z: -0.55
DepMap mean gene effect: -0.22
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Ankyrin repeat
Ankyrin repeat-containing domain superfamily
Ankyrin repeats (3 copies)
Ankyrin repeat domain-containing protein 11

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ANKRD11 as an antibody target. Whether an autoantibody or antibody against ANKRD11 could matter depends on whether native ANKRD11 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ANKRD11 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ANKRD11 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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