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

Gene ID: 9949, updated on 3-Nov-2019

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
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

Genomic context

See AMMECR1 in Genome Data Viewer
Location:
Xq23
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (110194186..110440233, complement)
105 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 uncharacterized LOC101928589 Neighboring gene small nucleolar RNA, C/D box 96B Neighboring gene uncharacterized LOC105373312 Neighboring gene G protein subunit gamma 5 pseudogene 2 Neighboring gene retrotransposon Gag like 9 Neighboring gene teratocarcinoma-derived growth factor 1 pseudogene 3 Neighboring gene mannose-6-phosphate receptor, cation dependent pseudogene

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

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
AMME syndrome candidate gene 1 protein
Names
Alport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

NCBI Reference Sequences (RefSeq)

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  AMME syndrome candidate gene 1 protein 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/Swiss-Prot
    Q9Y4X0
    UniProtKB/TrEMBL
    A0A0S2Z4V0
    Related
    ENSP00000361129.2, ENST00000372059.6
    Conserved Domains (1) summary
    pfam01871
    Location:159264
    AMMECR1; AMMECR1
  2. NM_001171689.2NP_001165160.1  AMME syndrome candidate gene 1 protein 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:8178
    AMMECR1; AMMECR1
  3. NM_015365.3NP_056180.1  AMME syndrome candidate gene 1 protein 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
    Q9Y4X0
    UniProtKB/TrEMBL
    A0A0S2Z4X0
    Related
    ENSP00000262844.5, ENST00000262844.10
    Conserved Domains (1) summary
    pfam01871
    Location:131301
    AMMECR1; AMMECR1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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