ENSG00000148677


Homo sapiens

Features
Gene ID: ENSG00000148677
  
Biological name :ANKRD1
  
Synonyms : ANKRD1 / ankyrin repeat domain 1 / Q15327
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q23.31
Gene start: 90912096
Gene end: 90921276
  
Corresponding Affymetrix probe sets: 206029_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000360762
NCBI entrez gene - 27063     See in Manteia.
OMIM - 609599
RefSeq - NM_014391
RefSeq Peptide - NP_055206
swissprot - Q15327
Ensembl - ENSG00000148677
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ankrd1aENSDARG00000075263Danio rerio
 ankrd1bENSDARG00000076192Danio rerio
 ANKRD1ENSGALG00000006491Gallus gallus
 Ankrd1ENSMUSG00000024803Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ANKRD2 / Q9GZV1 / ankyrin repeat domain 2ENSG0000016588742
Q86SG2 / ANKRD23 / ankyrin repeat domain 23ENSG0000016312641
ANKEF1 / Q9NU02 / ankyrin repeat and EF-hand domain containing 1ENSG0000013262321
Q6NXT1 / ANKRD54 / ankyrin repeat domain 54ENSG0000010012421
O75832 / PSMD10 / proteasome 26S subunit, non-ATPase 10ENSG0000010184320
ASB8 / Q9H765 / ankyrin repeat and SOCS box containing 8ENSG0000017798116


Protein motifs (from Interpro)
Interpro ID Name
 IPR002110  Ankyrin repeat
 IPR020683  Ankyrin repeat-containing domain
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0010976 positive regulation of neuron projection development IEA
 biological_processGO:0019216 regulation of lipid metabolic process TAS
 biological_processGO:0035690 cellular response to drug IEA
 biological_processGO:0035914 skeletal muscle cell differentiation IEA
 biological_processGO:0035994 response to muscle stretch IMP
 biological_processGO:0043065 positive regulation of apoptotic process IMP
 biological_processGO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator IDA
 biological_processGO:0045214 sarcomere organization NAS
 biological_processGO:0045445 myoblast differentiation IBA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0050714 positive regulation of protein secretion IMP
 biological_processGO:0055008 cardiac muscle tissue morphogenesis IMP
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:0071260 cellular response to mechanical stimulus IDA
 biological_processGO:0071347 cellular response to interleukin-1 IDA
 biological_processGO:0071356 cellular response to tumor necrosis factor IDA
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0071560 cellular response to transforming growth factor beta stimulus IDA
 biological_processGO:2000279 negative regulation of DNA biosynthetic process IMP
 cellular_componentGO:0001650 fibrillar center IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0030016 myofibril IEA
 cellular_componentGO:0031674 I band IEA
 molecular_functionGO:0001085 RNA polymerase II transcription factor binding IPI
 molecular_functionGO:0002039 p53 binding IPI
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0003714 transcription corepressor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0031432 titin binding IEA
 molecular_functionGO:0042826 histone deacetylase binding IPI
 molecular_functionGO:0061629 RNA polymerase II sequence-specific DNA-binding transcription factor binding IBA
 molecular_functionGO:0070412 R-SMAD binding IPI


Pathways (from Reactome)
Pathway description
PPARA activates gene expression


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000982 Palmoplantar keratoderma 
Show

 HP:0001644 Dilated cardiomyopathy 
Show

 HP:0001874 Abnormality of neutrophil 
Show

 HP:0003198 Myopathy 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
Show

 HP:0100578 Lipoatrophy "Localized loss of fat tissue." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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