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Hcn1 Gene Detail
Summary
  • Symbol
    Hcn1
  • Name
    hyperpolarization-activated, cyclic nucleotide-gated K+ 1
  • Synonyms
    Bcng1, C630013B14Rik, HAC2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1096392
    NCBI Gene: 15165
  • Gene Overview
    MyGene.info: HCN1
Location & Maps
more
  • Sequence Map
    Chr13:117602320-117987418 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      385099 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    HCN1, hyperpolarization activated cyclic nucleotide gated potassium channel 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    HCN1, hyperpolarization activated cyclic nucleotide gated potassium channel 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BCNG1, BCNG-1, EIEE24, HAC-2
  • Links
    NCBI Gene ID: 348980
    neXtProt AC: NX_O60741

  • Chr Location
    5p12; chr5:45254950-45696118 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human HCN1 associations

Human Disease Mouse Models
       Epileptic Encephalopathy, Early Infantile, 24; EIEE24   OMIM: 615871
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 3 alleles in 5 genetic backgrounds
    6 phenotypes from multigenic genotypes
    30 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
Mice homozygous for disruptions in this allele display learning deficiencies but are otherwise normal. Mice homozygous for another targeted knock-out exhibit deficit in hyperpolarization-activated currents and cold allodynia following partial nerve ligation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035649 VEGA Gene Model | MGI Sequence Detail 385099 C57BL/6J ±  kb
transcript OTTMUST00000091246 VEGA | MGI Sequence Detail 14141 Not Applicable  
polypeptide OTTMUSP00000050239 VEGA | MGI Sequence Detail 910 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    3938 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000000705 potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
  • PDB
  • InterPro Domains
    IPR018488 Cyclic nucleotide-binding, conserved site
    IPR000595 Cyclic nucleotide-binding domain
    IPR018490 Cyclic nucleotide-binding-like
    IPR005821 Ion transport domain
    IPR013621 Ion transport N-terminal
    IPR003938 Potassium channel, voltage-dependent, EAG/ELK/ERG
    IPR030169 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
    IPR014710 RmlC-like jelly roll fold
Molecular
Reagents
less
  • All nucleic 25
    cDNA 24
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2442891
References
more
  • Summaries
    All 78
    Developmental Gene Expression 7
    Gene Ontology 9
    Phenotypes 30
  • Earliest
    J:45084 Santoro B, et al., Interactive cloning with the SH3 domain of N-src identifies a new brain specific ion channel protein, with homology to eag and cyclic nucleotide-gated channels. Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14815-20
  • Latest
    J:229473 Schon C, et al., Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia. Hum Mol Genet. 2016 Mar 15;25(6):1165-75

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory