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

Gene ID: 9949, updated on 5-Mar-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
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Genomic context

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Location:
Xq23
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (110194186..110440233, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (108642094..108888143, complement)
105.20220307 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
  • 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. 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
  4. 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
  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 (28) 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
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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_2023_10

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

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