ANKRD17

Protein identityUniProt · HPA

UniProt accession

O75179

Gene

ANKRD17

Ensembl

ENSG00000132466

Chromosome

4

Canonical length

2603 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear membrane

OverviewNCBI Gene

The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repeats, and the other with 10 ankyrin repeats. It also contains a nuclear export signal, nuclear localization signal, and a cyclin-binding RXL motif. Localization of this protein to the nucleus has been shown experimentally, and interactions between this protein and cyclin-dependent kinase 2 have been observed. It has been suggested that this protein plays a role in both DNA replication and in both anti-viral and anti-bacterial innate immune pathways. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

2603 residues, UniProt reviewed canonical sequence.

>O75179|ANKRD17
     1  MEKATVPVAA ATAAEGEGSP PAVAAVAGPP AAAEVGGGVG GSSRARSASS PRGMVRVCDL
    61  LLKKKPPQQQ HHKAKRNRTC RPPSSSESSS DSDNSGGGGG GGGGGGGGGG TSSNNSEEEE
   121  DDDDEEEEVS EVESFILDQD DLENPMLETA SKLLLSGTAD GADLRTVDPE TQARLEALLE
   181  AAGIGKLSTA DGKAFADPEV LRRLTSSVSC ALDEAAAALT RMRAESTANA GQSDNRSLAE
   241  ACSEGDVNAV RKLLIEGRSV NEHTEEGESL LCLACSAGYY ELAQVLLAMH ANVEDRGIKG
   301  DITPLMAAAN GGHVKIVKLL LAHKADVNAQ SSTGNTALTY ACAGGYVDVV KVLLESGASI
   361  EDHNENGHTP LMEAGSAGHV EVARLLLENG AGINTHSNEF KESALTLACY KGHLEMVRFL
   421  LEAGADQEHK TDEMHTALME ACMDGHVEVA RLLLDSGAQV NMPADSFESP LTLAACGGHV
   481  ELAALLIERG ASLEEVNDEG YTPLMEAARE GHEEMVALLL GQGANINAQT EETQETALTL
   541  ACCGGFLEVA DFLIKAGADI ELGCSTPLME AAQEGHLELV KYLLAAGANV HATTATGDTA
   601  LTYACENGHT DVADVLLQAG ADLEHESEGG RTPLMKAARA GHVCTVQFLI SKGANVNRTT
   661  ANNDHTVLSL ACAGGHLAVV ELLLAHGADP THRLKDGSTM LIEAAKGGHT SVVCYLLDYP
   721  NNLLSAPPPD VTQLTPPSHD LNRAPRVPVQ ALPMVVPPQE PDKPPANVAT TLPIRNKAAS
   781  KQKSSSHLPA NSQDVQGYIT NQSPESIVEE AQGKLTELEQ RIKEAIEKNA QLQSLELAHA
   841  DQLTKEKIEE LNKTREEQIQ KKQKILEELQ KVERELQLKT QQQLKKQYLE VKAQRIQLQQ
   901  QQQQSCQHLG LLTPVGVGEQ LSEGDYARLQ QVDPVLLKDE PQQTAAQMGF APIQPLAMPQ
   961  ALPLAAGPLP PGSIANLTEL QGVIVGQPVL GQAQLAGLGQ GILTETQQGL MVASPAQTLN
  1021  DTLDDIMAAV SGRASAMSNT PTHSIAASIS QPQTPTPSPI ISPSAMLPIY PAIDIDAQTE
  1081  SNHDTALTLA CAGGHEELVQ TLLERGASIE HRDKKGFTPL ILAATAGHVG VVEILLDNGA
  1141  DIEAQSERTK DTPLSLACSG GRQEVVELLL ARGANKEHRN VSDYTPLSLA ASGGYVNIIK
  1201  ILLNAGAEIN SRTGSKLGIS PLMLAAMNGH TAAVKLLLDM GSDINAQIET NRNTALTLAC
  1261  FQGRTEVVSL LLDRKANVEH RAKTGLTPLM EAASGGYAEV GRVLLDKGAD VNAPPVPSSR
  1321  DTALTIAADK GHYKFCELLI GRGAHIDVRN KKGNTPLWLA ANGGHLDVVQ LLVQAGADVD
  1381  AADNRKITPL MAAFRKGHVK VVRYLVKEVN QFPSDSECMR YIATITDKEM LKKCHLCMES
  1441  IVQAKDRQAA EANKNASILL EELDLEKLRE ESRRLALAAK REKRKEKRRK KKEEQRRKLE
  1501  EIEAKNKENF ELQAAQEKEK LKVEDEPEVL TEPPSATTTT TIGISATWTT LAGSHGKRNN
  1561  TITTTSSKRK NRKNKITPEN VQIIFDDPLP ISYSQPEKVN GESKSSSTSE SGDSDNMRIS
  1621  SCSDESSNSN SSRKSDNHSP AVVTTTVSSK KQPSVLVTFP KEERKSVSGK ASIKLSETIS
  1681  EGTSNSLSTC TKSGPSPLSS PNGKLTVASP KRGQKREEGW KEVVRRSKKV SVPSTVISRV
  1741  IGRGGCNINA IREFTGAHID IDKQKDKTGD RIITIRGGTE STRQATQLIN ALIKDPDKEI
  1801  DELIPKNRLK SSSANSKIGS SAPTTTAANT SLMGIKMTTV ALSSTSQTAT ALTVPAISSA
  1861  STHKTIKNPV NNVRPGFPVS LPLAYPPPQF AHALLAAQTF QQIRPPRLPM THFGGTFPPA
  1921  QSTWGPFPVR PLSPARATNS PKPHMVPRHS NQNSSGSQVN SAGSLTSSPT TTTSSSASTV
  1981  PGTSTNGSPS SPSVRRQLFV TVVKTSNATT TTVTTTASNN NTAPTNATYP MPTAKEHYPV
  2041  SSPSSPSPPA QPGGVSRNSP LDCGSASPNK VASSSEQEAG SPPVVETTNT RPPNSSSSSG
  2101  SSSAHSNQQQ PPGSVSQEPR PPLQQSQVPP PEVRMTVPPL ATSSAPVAVP STAPVTYPMP
  2161  QTPMGCPQPT PKMETPAIRP PPHGTTAPHK NSASVQNSSV AVLSVNHIKR PHSVPSSVQL
  2221  PSTLSTQSAC QNSVHPANKP IAPNFSAPLP FGPFSTLFEN SPTSAHAFWG GSVVSSQSTP
  2281  ESMLSGKSSY LPNSDPLHQS DTSKAPGFRP PLQRPAPSPS GIVNMDSPYG SVTPSSTHLG
  2341  NFASNISGGQ MYGPGAPLGG APAAANFNRQ HFSPLSLLTP CSSASNDSSA QSVSSGVRAP
  2401  SPAPSSVPLG SEKPSNVSQD RKVPVPIGTE RSARIRQTGT SAPSVIGSNL STSVGHSGIW
  2461  SFEGIGGNQD KVDWCNPGMG NPMIHRPMSD PGVFSQHQAM ERDSTGIVTP SGTFHQHVPA
  2521  GYMDFPKVGG MPFSVYGNAM IPPVAPIPDG AGGPIFNGPH AADPSWNSLI KMVSSSTENN
  2581  GPQTVWTGPW APHMNSVHMN QLG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ANKRD17 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)

0.49

Highest tissue expression

33 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ANKRD17.

Disease | AllUniProt

Conditions ANKRD17 is implicated in, by any mechanism.

• Chopra-Amiel-Gordon syndrome (CAGS) MIM:619504

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 580 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Chopra-Amiel-Gordon syndrome
• Inborn genetic diseases
• Intellectual disability
• Neurodevelopmental delay
• See cases

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)

0.06

gnomAD pLI

1

gnomAD missense Z

5.36

DepMap mean gene effect

-0.18

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

• defense response to bacterium
• innate immune response
• positive regulation of canonical NF-kappaB signal transduction
• positive regulation of cell cycle
• positive regulation of G1/S transition of mitotic cell cycle
• positive regulation of MDA-5 signaling pathway
• positive regulation of RIG-I signaling pathway
• regulation of DNA replication

Molecular functions

• chromatin binding
• RNA binding

Cellular components

• chromatin
• cytoplasm
• membrane
• nuclear membrane
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Ankyrin repeat
• K Homology domain
• K Homology domain, type 1
• K Homology domain, type 1 superfamily
• Ankyrin repeat-containing domain superfamily
• Ankyrin repeat and KH/SAM domain-containing protein
• KH domain
• Ankyrin repeat
• Ankyrin repeats (3 copies)
• Ankyrin repeats (many copies)
• Ankyrin repeat domain-containing protein 17, type I K homology domain

KeywordsUniProt

• Acetylation
• ANK repeat
• Coiled coil
• Cytoplasm
• Host-virus interaction
• Immunity
• Innate immunity
• Intellectual disability
• Isopeptide bond
• Methylation
• Nucleus
• Phosphoprotein
• Repeat
• RNA-binding
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of ANKRD17 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CDC6
• CDK2
• IFIH1
• MAVS
• MCM3
• MCM5
• MCM7
• PCNA
• DHX58
• NOD2
• ANKHD1
• HOXB6