ANKK1
Ankyrin repeat and protein kinase domain-containing protein 1
Also known as: ANKK1_HUMAN, X-kinase
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NFD2
- Gene
- ANKK1
- Ensembl
- ENSG00000170209
- Chromosome
- 11
- Canonical length
- 765 aa
- Protein class
- Enzymes, Predicted intracellular proteins
OverviewNCBI Gene
The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]
Canonical amino-acid sequenceUniProt
765 residues, UniProt reviewed canonical sequence.
>Q8NFD2|ANKK1
1 MAADPTELRL GSLPVFTRDD FEGDWRLVAS GGFSQVFQAR HRRWRTEYAI KCAPCLPPDA
61 ASSDVNYLIE EAAKMKKIKF QHIVSIYGVC KQPLGIVMEF MANGSLEKVL STHSLCWKLR
121 FRIIHETSLA MNFLHSIKPP LLHLDLKPGN ILLDSNMHVK ISDFGLSKWM EQSTRMQYIE
181 RSALRGMLSY IPPEMFLESN KAPGPKYDVY SFAIVIWELL TQKKPYSGFN MMMIIIRVAA
241 GMRPSLQPVS DQWPSEAQQM VDLMKRCWDQ DPKKRPCFLD ITIETDILLS LLQSRVAVPE
301 SKALARKVSC KLSLRQPGEV NEDISQELMD SDSGNYLKRA LQLSDRKNLV PRDEELCIYE
361 NKVTPLHFLV AQGSVEQVRL LLAHEVDVDC QTASGYTPLL IAAQDQQPDL CALLLAHGAD
421 ANRVDEDGWA PLHFAAQNGD DGTARLLLDH GACVDAQERE GWTPLHLAAQ NNFENVARLL
481 VSRQADPNLH EAEGKTPLHV AAYFGHVSLV KLLTSQGAEL DAQQRNLRTP LHLAVERGKV
541 RAIQHLLKSG AVPDALDQSG YGPLHTAAAR GKYLICKMLL RYGASLELPT HQGWTPLHLA
601 AYKGHLEIIH LLAESHANMG ALGAVNWTPL HLAARHGEEA VVSALLQCGA DPNAAEQSGW
661 TPLHLAVQRS TFLSVINLLE HHANVHARNK VGWTPAHLAA LKGNTAILKV LVEAGAQLDV
721 QDGVSCTPLQ LALRSRKQGI MSFLEGKEPS VATLGGSKPG AEMEILocalizationUniProt · AlphaFold · HPA
Whether an antibody against ANKK1 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)
- 0.29
- Highest tissue expression
- 3.3 nTPM
Expression across tissuesHPA
Tissue
- skin: 3.3 nTPM
- pituitary gland: 2.9 nTPM
- fallopian tube: 1.6 nTPM
- choroid plexus: 1.5 nTPM
- prostate: 1.4 nTPM
- basal ganglia: 1.2 nTPM
Single-cell type
- retinal horizontal cells: 34 nCPM
- ependymal cells: 12 nCPM
- respiratory ciliated cells: 11 nCPM
- lactotrophs: 11 nCPM
- somatotrophs: 8.8 nCPM
- thyrotrophs: 8.1 nCPM
Immune cell
- basophil: 0.1 nTPM
- naive B-cell: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- midbrain: 6.9 nTPM
- basal ganglia: 6.1 nTPM
- choroid plexus: 4.2 nTPM
- thalamus: 2.4 nTPM
- medulla oblongata: 2.3 nTPM
- cerebral cortex: 1.9 nTPM
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)
- 1.16
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.01
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- none
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
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Protein kinase domain
- Serine-threonine/tyrosine-protein kinase, catalytic domain
- Ankyrin repeat
- Serine/threonine-protein kinase, active site
- Protein kinase-like domain superfamily
- Ankyrin repeat-containing domain superfamily
- Ankyrin repeat
- Protein tyrosine and serine/threonine kinase
- Ankyrin repeats (3 copies)
- Ankyrin repeats (many copies)
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ANKK1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ANKK1 as an antibody target. Whether an autoantibody or antibody against ANKK1 could matter depends on whether native ANKK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ANKK1 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 ANKK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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