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

    Gene ID: 9949, updated on 9-Dec-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001025580.2NP_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:159264
      AMMECR1
    2. NM_001171689.2NP_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:9178
      AMMECR1
    3. NM_015365.3NP_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:132301
      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)