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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
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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)

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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