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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]
ANKRD17 (Ankyrin Repeat Domain 17) is a Protein Coding gene. Diseases associated with ANKRD17 include Hand, Foot And Mouth Disease. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is ANKHD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003682 | chromatin binding | IDA | 19150984 |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IEA,IPI | 19150984 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | IDA | 19150984 |
GO:0005634 | nucleus | IBA,IDA | 19150984 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IBA,IDA | 22328336 |
GO:0016020 | membrane | HDA | 19946888 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001955 | blood vessel maturation | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0006275 | regulation of DNA replication | IMP | 19150984 |
GO:0016032 | viral process | IEA | -- |
GO:0042742 | defense response to bacterium | IDA | 23711367 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - |
ExUns: | 24 | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35a | · | 35b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ANKRD17 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ANKRD17 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ANKRD17 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ankrd17 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ankrd17 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ANKRD17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ANKRD17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ANKRD17 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ANKRD17 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ankrd17 30 |
|
||
Str.15599 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | mask 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.13317 30 |
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
690371 | Uncertain Significance: not provided | 73,139,993(-) | C/A | NONSENSE,INTRON_VARIANT | |
691342 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 73,258,574(-) | G/A | MISSENSE_VARIANT | |
816890 | Likely Pathogenic: Intellectual disability | 73,091,871(-) | T/TG | FRAMESHIFT_VARIANT | |
rs2306058 | Association: Lip and oral cavity carcinoma | 73,076,961(-) | C/T | SYNONYMOUS_VARIANT | |
rs2306059 | - | p.His2560Tyr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3600984 | CNV | gain | 21293372 |
esv3600985 | CNV | gain | 21293372 |
esv3600989 | CNV | loss | 21293372 |
esv3600990 | CNV | loss | 21293372 |
esv3600991 | CNV | loss | 21293372 |
nsv1000509 | CNV | gain | 25217958 |
nsv523169 | CNV | gain | 19592680 |
nsv966284 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hand, foot and mouth disease |
|
|