ENSG00000164588
Homo sapiens | |
Features
| Gene ID: | ENSG00000164588 | | | | | Biological name : | HCN1 | | | | | Synonyms : | HCN1 / hyperpolarization activated cyclic nucleotide gated potassium channel 1 / O60741 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 5 | | Strand: | -1 | | Band: | p12 | | Gene start: | 45254950 | | Gene end: | 45696498 | | | | | Corresponding Affymetrix probe sets: | 1556351_at (Human Genome U133 Plus 2.0 Array) 1562563_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000307342
Ensembl peptide - ENSP00000489134
NCBI entrez gene - 348980
See in Manteia.
OMIM - 602780
RefSeq - NM_021072
RefSeq Peptide - NP_066550
swissprot - A0A0U1RQR7
swissprot - O60741
Ensembl - ENSG00000164588
| | | | | Related genetic diseases (OMIM): | 615871 - Epileptic encephalopathy, early infantile, 24, 615871 |
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)
Paralog prediction (from Ensembl)
| HCN4 / Q9Y3Q4 / hyperpolarization activated cyclic nucleotide gated potassium channel 4 | ENSG00000138622 | 64 | | HCN2 / Q9UL51 / hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 | ENSG00000099822 | 58 | | HCN3 / Q9P1Z3 / hyperpolarization activated cyclic nucleotide gated potassium channel 3 | ENSG00000143630 | 52 | | CNGA3 / Q16281 / cyclic nucleotide gated channel alpha 3 | ENSG00000144191 | 17 | | CNGA1 / P29973 / cyclic nucleotide gated channel alpha 1 | ENSG00000198515 | 16 | | CNGA2 / Q16280 / cyclic nucleotide gated channel alpha 2 | ENSG00000183862 | 16 | | CNGB3 / Q9NQW8 / cyclic nucleotide gated channel beta 3 | ENSG00000170289 | 15 | | CNGB1 / Q14028 / cyclic nucleotide gated channel beta 1 | ENSG00000070729 | 15 | | CNGA4 / Q8IV77 / cyclic nucleotide gated channel alpha 4 | ENSG00000132259 | 14 |
Protein motifs (from Interpro)
| IPR000595 | Cyclic nucleotide-binding domain | | IPR003938 | Potassium channel, voltage-dependent, EAG/ELK/ERG | | IPR005821 | Ion transport domain | | IPR013621 | Ion transport N-terminal | | IPR014710 | RmlC-like jelly roll fold | | IPR018488 | Cyclic nucleotide-binding, conserved site | | IPR018490 | Cyclic nucleotide-binding-like | | IPR030169 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000708 | Behavioural/Psychiatric Abnormality | |
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| | HP:0001249 | Mental retardation | |
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| | HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| | HP:0002373 | Febrile seizures | "Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two." [HPO:curators] |
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| | HP:0200134 | Epileptic encephalopathy | |
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Interacting proteins (from Reactome)
| ENSG00000164588 | HCN1 / O60741 / hyperpolarization activated cyclic nucleotide gated potassium channel 1 | / complex |
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