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    AMN1 antagonist of mitotic exit network 1 homolog [ Homo sapiens (human) ]

    Gene ID: 196394, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AMN1provided by HGNC
    Official Full Name
    antagonist of mitotic exit network 1 homologprovided by HGNC
    Primary source
    HGNC:HGNC:27281
    See related
    Ensembl:ENSG00000151743 MIM:620564; AllianceGenome:HGNC:27281
    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
    Summary
    Predicted to be involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process. Predicted to be part of SCF ubiquitin ligase complex. Predicted to be active in microvillus membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 7.2), brain (RPKM 4.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AMN1 in Genome Data Viewer
    Location:
    12p11.21
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (31671137..31729174, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (31547967..31606023, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (31824071..31882108, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DENND5B antisense RNA 1 Neighboring gene uncharacterized LOC124902913 Neighboring gene adenylate kinase 4 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:31811991-31812492 Neighboring gene electron transfer flavoprotein subunit beta lysine methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:31871502-31872009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:31872010-31872516 Neighboring gene uncharacterized LOC105369722 Neighboring gene stathmin 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6174 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:31882236-31882868 Neighboring gene CRISPRi-validated cis-regulatory element chr12.953 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:31886154-31887353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4330 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:31901554-31902753 Neighboring gene uncharacterized LOC105369724 Neighboring gene Sharpr-MPRA regulatory region 3097 Neighboring gene IFITM3 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:31919651-31919864 Neighboring gene uncharacterized LOC107984470

    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. Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study. Yazar S, et al. Mol Vis, 2013. PMID 23761726, Free PMC Article
    2. Amn1 governs post-mitotic cell separation in Saccharomyces cerevisiae. Fang O, et al. PLoS Genet, 2018 Oct. PMID 30273335, Free PMC Article
    3. ARIH2 Is a Vif-Dependent Regulator of CUL5-Mediated APOBEC3G Degradation in HIV Infection. Hüttenhain R, et al. Cell Host Microbe, 2019 Jul 10. PMID 31253590, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.
    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

    Process Evidence Code Pubs
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microvillus membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein AMN1 homolog

    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_001113402.2 → NP_001106873.1  protein AMN1 homolog isoform 1

      See identical proteins and their annotated locations for NP_001106873.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC045831, BC067906
      Consensus CDS
      CCDS44858.1
      UniProtKB/Swiss-Prot
      B7Z7J3, Q6NVU4, Q86X98, Q8IY45
      UniProtKB/TrEMBL
      F5H1R2
      Related
      ENSP00000281471.6, ENST00000281471.11
      Conserved Domains (2) summary
      cd09293
      Location:37 → 257
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:63 → 86
      LRR_AMN1; leucine-rich repeat [structural motif]

    2. NM_001278411.2 → NP_001265340.1  protein AMN1 homolog isoform 2

      See identical proteins and their annotated locations for NP_001265340.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site, which results in a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform 2.
      Source sequence(s)
      BC037897, BC067906, DC325581, DC394802
      Consensus CDS
      CCDS61089.1
      UniProtKB/TrEMBL
      F5H1R2
      Related
      ENSP00000438990.1, ENST00000535408.5
      Conserved Domains (2) summary
      cd09293
      Location:19 → 239
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:45 → 68
      LRR_AMN1; leucine-rich repeat [structural motif]

    3. NM_001278412.2 → NP_001265341.1  protein AMN1 homolog isoform 2

      See identical proteins and their annotated locations for NP_001265341.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has two additional exons in the 5' region, which results in a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform 2.
      Source sequence(s)
      AK123033, AK302112, BC037897, BC067906
      Consensus CDS
      CCDS61089.1
      UniProtKB/TrEMBL
      F5H1R2
      Related
      ENSP00000440967.1, ENST00000536761.5
      Conserved Domains (2) summary
      cd09293
      Location:19 → 239
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:45 → 68
      LRR_AMN1; leucine-rich repeat [structural motif]

    RNA

    1. NR_103522.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has alternate exons in the 5' region and an additional exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK123033, AK311249, BC037897, BC067906

    2. NR_103523.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK123033, AK311214, BC037897, BC067906, DC394802

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      31671137..31729174 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018965.3 → XP_016874454.1  protein AMN1 homolog isoform X1

      UniProtKB/TrEMBL
      F5H1R2
      Conserved Domains (2) summary
      cd09293
      Location:19 → 239
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:45 → 68
      LRR_AMN1; leucine-rich repeat [structural motif]

    2. XM_006719054.4 → XP_006719117.1  protein AMN1 homolog isoform X2

      UniProtKB/TrEMBL
      F5H1R2
      Conserved Domains (2) summary
      cd09293
      Location:9 → 208
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:14 → 37
      LRR_AMN1; leucine-rich repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      31547967..31606023 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371376.1 → XP_054227351.1  protein AMN1 homolog isoform X1

    2. XM_054371377.1 → XP_054227352.1  protein AMN1 homolog isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IY45.4 GenPept UniProtKB/Swiss-Prot:Q8IY45

    Gene LinkOut

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