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    AMMECR1 AMMECR nuclear protein 1 [ Homo sapiens (human) ]

    Gene ID: 9949, updated on 28-Oct-2024

    Summary

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    Official Symbol
    AMMECR1provided by HGNC
    Official Full Name
    AMMECR nuclear protein 1provided by HGNC
    Primary source
    HGNC:HGNC:467
    See related
    Ensembl:ENSG00000101935 MIM:300195; AllianceGenome:HGNC:467
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MFHIEN; AMMERC1
    Summary
    The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
    Expression
    Ubiquitous expression in bone marrow (RPKM 5.1), esophagus (RPKM 4.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AMMECR1 in Genome Data Viewer
    Location:
    Xq23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (110194186..110440233, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (108642094..108888143, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (109437414..109683461, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 164 Neighboring gene microRNA 3978 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:109403823-109404356 Neighboring gene uncharacterized LOC124905230 Neighboring gene NANOG hESC enhancer GRCh37_chrX:109488243-109488792 Neighboring gene small nucleolar RNA, C/D box 96B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20939 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:109561279-109561613 Neighboring gene uncharacterized LOC105373312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20940 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:109560826-109560981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29854 Neighboring gene G protein subunit gamma 5B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:109661556-109662056 Neighboring gene NANOG hESC enhancer GRCh37_chrX:109670142-109670791 Neighboring gene retrotransposon Gag like 9 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:109763200-109764196 Neighboring gene cripto, EGF-CFC family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:109844205-109844705 Neighboring gene M6PR pseudogene 1

    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. AMMECR1 Inhibits Apoptosis and Promotes Cell-cycle Progression and Proliferation of the A549 Human Lung Cancer Cell Line. Ge H, et al. Anticancer Res, 2019 Sep. PMID 31519561
    2. X-linked elliptocytosis with impaired growth is related to mutated AMMECR1. Basel-Vanagaite L, et al. Gene, 2017 Mar 30. PMID 28089922
    3. FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. Piccini M, et al. Genomics, 1998 Feb 1. PMID 9480748
    4. AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. Andreoletti G, et al. J Med Genet, 2017 Apr. PMID 27811305, Free PMC Article
    5. Inactivation of AMMECR1 is associated with growth, bone, and heart alterations. Moysés-Oliveira M, et al. Hum Mutat, 2018 Feb. PMID 29193635

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AMMECR1 plays a critical role in cell proliferation, cell-cycle progression, and apoptosis of human lung cancer cells, and may serve as a potential therapeutic target for non-small-cell lung cancer.
      Title: AMMECR1 Inhibits Apoptosis and Promotes Cell-cycle Progression and Proliferation of the A549 Human Lung Cancer Cell Line.
    2. results suggest that AMMECR1 is potentially involved in cell cycle control and linked to a new syndrome with growth, bone, heart, and kidney alterations with or without elliptocytosis.
      Title: Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
    3. We conclude that AMMECR1 is a critical gene in the pathogenesis of Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME), causing midface hypoplasia and elliptocytosis and contributing to early speech and language delay, infantile hypotonia and hearing loss
      Title: AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.
    4. Study provides further evidence that mutated AMMECR1 gene is responsible for this clinically recognizable X-linked condition, Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex) with variable expressivity.
      Title: X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.
    5. PH0010 from Pyrococcus horikoshii is highly homologous to human AMMECR 1C-terminal region
      Title: Crystal structure of PH0010 from Pyrococcus horikoshii, which is highly homologous to human AMMECR 1C-terminal region.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
    MedGen: C4310810 OMIM: 300990 GeneReviews: Not available
    		Compare labs

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (AMMECR1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nuclear protein AMMECR1
    Names
    AMME syndrome candidate gene 1 protein

    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.

    Genomic

    1. NG_016469.2 RefSeqGene

      Range
      127149..251048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001025580.2 → NP_001020751.1  nuclear protein AMMECR1 isoform 2

      See identical proteins and their annotated locations for NP_001020751.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AJ007014, BC037983, BC051895, BC060813
      Consensus CDS
      CCDS35368.1
      UniProtKB/TrEMBL
      A0A0S2Z4V0, B2RBC1
      Related
      ENSP00000361129.2, ENST00000372059.6
      Conserved Domains (1) summary
      pfam01871
      Location:159 → 264
      AMMECR1

    2. NM_001171689.2 → NP_001165160.1  nuclear protein AMMECR1 isoform 3

      See identical proteins and their annotated locations for NP_001165160.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG, and a shorter isoform (3) compared to isoform 1.
      Source sequence(s)
      AK091430, BC037983, BC051895, BC060813, DA203031
      Consensus CDS
      CCDS55476.1
      UniProtKB/Swiss-Prot
      Q9Y4X0
      Related
      ENSP00000361127.1, ENST00000372057.1
      Conserved Domains (1) summary
      pfam01871
      Location:9 → 178
      AMMECR1

    3. NM_015365.3 → NP_056180.1  nuclear protein AMMECR1 isoform 1

      See identical proteins and their annotated locations for NP_056180.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AJ007014, BC037983, BC051895, BC060813
      Consensus CDS
      CCDS14551.1
      UniProtKB/Swiss-Prot
      Q5JYV9, Q6P9D8, Q8WX22, Q9UIQ8, Q9Y4X0
      UniProtKB/TrEMBL
      A0A0S2Z4X0, B2RBC1
      Related
      ENSP00000262844.5, ENST00000262844.10
      Conserved Domains (1) summary
      pfam01871
      Location:132 → 301
      AMMECR1

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      110194186..110440233 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      108642094..108888143 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4X0.1 GenPept UniProtKB/Swiss-Prot:Q9Y4X0

    Gene LinkOut

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

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