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    AMIGO1 adhesion molecule with Ig like domain 1 [ Homo sapiens (human) ]

    Gene ID: 57463, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AMIGO1provided by HGNC
    Official Full Name
    adhesion molecule with Ig like domain 1provided by HGNC
    Primary source
    HGNC:HGNC:20824
    See related
    Ensembl:ENSG00000181754 MIM:615689; AllianceGenome:HGNC:20824
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALI2; AMIGO; AMIGO-1
    Summary
    Predicted to enable potassium channel regulator activity. Predicted to be involved in several processes, including heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; homophilic cell adhesion via plasma membrane adhesion molecules; and nervous system development. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in dendrite; neuronal cell body membrane; and voltage-gated potassium channel complex. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 9.3), adrenal (RPKM 6.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AMIGO1 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109504178..109509727, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109536945..109542494, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110046800..110052349, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110025999-110026616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110026617-110027236 Neighboring gene ataxin 7 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110036856-110037356 Neighboring gene cytochrome b561 family member D1 Neighboring gene Sharpr-MPRA regulatory region 8825 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110042111-110042610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1155 Neighboring gene uncharacterized LOC105378893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1443 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:110073289-110073457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110082007-110082508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110082509-110083008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110086313-110086851 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:110089013-110089249 Neighboring gene G protein-coupled receptor 61

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Kv2 channel-AMIGO β-subunit assembly modulates both channel function and cell adhesion molecule surface trafficking. Maverick EE, et al. J Cell Sci, 2021 Jun 15. PMID 34137443, Free PMC Article
    2. AMIGO-Kv2.1 Potassium Channel Complex Is Associated With Schizophrenia-Related Phenotypes. Peltola MA, et al. Schizophr Bull, 2016 Jan. PMID 26240432, Free PMC Article
    3. AMIGO, a transmembrane protein implicated in axon tract development, defines a novel protein family with leucine-rich repeats. Kuja-Panula J, et al. J Cell Biol, 2003 Mar 17. PMID 12629050, Free PMC Article
    4. New loci associated with kidney function and chronic kidney disease. Köttgen A, et al. Nat Genet, 2010 May. PMID 20383146, Free PMC Article
    5. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. Hirosawa M, et al. DNA Res, 1999 Oct 29. PMID 10574461

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AMIGO1 is identified as a candidate gene for human schizophrenia and related psychiatric disorders.
      Title: AMIGO-Kv2.1 Potassium Channel Complex Is Associated With Schizophrenia-Related Phenotypes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables potassium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axonal fasciculation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in axonogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to L-glutamate IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in myelination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of potassium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of synapse assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuronal cell body membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in pericellular basket IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of voltage-gated potassium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    amphoterin-induced protein 1
    Names
    alivin-2
    amphoterin-induced gene and ORF

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_020703.4 → NP_065754.2  amphoterin-induced protein 1 precursor

      See identical proteins and their annotated locations for NP_065754.2

      Status: VALIDATED

      Source sequence(s)
      AK295678, AL355145, HY122839
      Consensus CDS
      CCDS30795.1
      UniProtKB/Swiss-Prot
      B4DIM3, Q86WK6, Q8IW71, Q9ULQ7
      Related
      ENSP00000358880.4, ENST00000369864.5
      Conserved Domains (3) summary
      smart00409
      Location:279 → 358
      IG; Immunoglobulin
      COG4886
      Location:66 → 242
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:66 → 87
      LRR_RI; leucine-rich repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      109504178..109509727 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541812.3 → XP_011540114.1  amphoterin-induced protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011540114.1

      UniProtKB/Swiss-Prot
      B4DIM3, Q86WK6, Q8IW71, Q9ULQ7
      Related
      ENSP00000358878.1, ENST00000369862.1
      Conserved Domains (3) summary
      smart00409
      Location:279 → 358
      IG; Immunoglobulin
      COG4886
      Location:66 → 242
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:66 → 87
      LRR_RI; leucine-rich repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      109536945..109542494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337816.1 → XP_054193791.1  amphoterin-induced protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B4DIM3, Q86WK6, Q8IW71, Q9ULQ7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86WK6.1 GenPept UniProtKB/Swiss-Prot:Q86WK6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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