ANKRD1
Ankyrin repeat domain-containing protein 1
Also known as: ALRP, ANKR1_HUMAN, C-193, CARP, CVARP, MCARP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15327
- Gene
- ANKRD1
- Ensembl
- ENSG00000148677
- Chromosome
- 10
- Canonical length
- 319 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli fibrillar center
OverviewNCBI Gene
The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
319 residues, UniProt reviewed canonical sequence.
>Q15327|ANKRD1
1 MMVLKVEELV TGKKNGNGEA GEFLPEDFRD GEYEAAVTLE KQEDLKTLLA HPVTLGEQQW
61 KSEKQREAEL KKKKLEQRSK LENLEDLEII IQLKKRKKYR KTKVPVVKEP EPEIITEPVD
121 VPTFLKAALE NKLPVVEKFL SDKNNPDVCD EYKRTALHRA CLEGHLAIVE KLMEAGAQIE
181 FRDMLESTAI HWASRGGNLD VLKLLLNKGA KISARDKLLS TALHVAVRTG HYECAEHLIA
241 CEADLNAKDR EGDTPLHDAV RLNRYKMIRL LIMYGADLNI KNCAGKTPMD LVLHWQNGTK
301 AIFDSLRENS YKTSRIATFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ANKRD1 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)
- 0.38
- Highest tissue expression
- 6,126 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 6,126 nTPM
- skeletal muscle: 615 nTPM
- lung: 49 nTPM
- blood vessel: 31 nTPM
- tongue: 19 nTPM
- salivary gland: 16 nTPM
Single-cell type
- alveolar cells type 1: 1,511 nCPM
- thymic myoid cells: 659 nCPM
- cardiomyocytes: 229 nCPM
- myonuclei: 119 nCPM
- pancreatic duct cells: 33 nCPM
- endometrial ciliated cells: 16 nCPM
Immune cell
- basophil: 0.3 nTPM
- neutrophil: 0.1 nTPM
- NK-cell: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- thalamus: 2.1 nTPM
- choroid plexus: 1.5 nTPM
- cerebral cortex: 0.9 nTPM
- cerebellum: 0.7 nTPM
- hypothalamus: 0.6 nTPM
- midbrain: 0.6 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)
- 1.34
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.19
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cardiac muscle tissue morphogenesis
- cellular response to hypoxia
- cellular response to interleukin-1
- cellular response to lipopolysaccharide
- cellular response to mechanical stimulus
- cellular response to transforming growth factor beta stimulus
- cellular response to tumor necrosis factor
- cellular response to xenobiotic stimulus
- negative regulation of DNA biosynthetic process
- negative regulation of transcription by RNA polymerase II
- phospholipase C/protein kinase C signal transduction
- positive regulation of apoptotic process
- positive regulation of DNA damage response, signal transduction by p53 class mediator
- positive regulation of neuron projection development
- positive regulation of protein secretion
- regulation of transcription by RNA polymerase II
- response to muscle stretch
- sarcomere organization
- skeletal muscle cell differentiation
Molecular functions
- DNA binding
- histone deacetylase binding
- p53 binding
- R-SMAD binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- titin binding
- transcription coactivator activity
- transcription corepressor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ANKRD1 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 ANKRD1 as an antibody target. Whether an autoantibody or antibody against ANKRD1 could matter depends on whether native ANKRD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ANKRD1 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 ANKRD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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