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AMER1 APC membrane recruitment protein 1 [ Homo sapiens (human) ]

Gene ID: 139285, updated on 19-Jul-2014
Official Symbol
AMER1provided by HGNC
Official Full Name
APC membrane recruitment protein 1provided by HGNC
Primary source
HGNC:26837
Locus tag
RP11-403E24.2
See related
Ensembl:ENSG00000184675; HPRD:06565; MIM:300647; Vega:OTTHUMG00000021703
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
WTX; OSCS; FAM123B
Summary
The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
See AMER1 in Epigenomics, MapViewer
Location:
Xq11.2
Exon count :
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (64185117..64205744, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (63404997..63425624, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene 1 Neighboring gene zinc finger protein 670 pseudogene Neighboring gene ankyrin repeat and SOCS box containing 12 Neighboring gene myotubularin related protein 8 Neighboring gene karyopherin alpha 4 (importin alpha 3) pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-catenin binding IDA
Inferred from Direct Assay
more info
 
phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
 
phosphatidylinositol-4,5-bisphosphate binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
adipose tissue development IEA
Inferred from Electronic Annotation
more info
 
bone development IEA
Inferred from Electronic Annotation
more info
 
mesenchymal cell differentiation involved in kidney development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
APC membrane recruitment protein 1
Names
APC membrane recruitment protein 1
RP11-403E24.2
protein FAM123B
Wilms tumor on the X
family with sequence similarity 123B
Wilms tumor gene on the X chromosome protein
adenomatous polyposis coli membrane recruitment 1

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_021345.1 

    Range
    5001..25628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152424.3NP_689637.3  APC membrane recruitment protein 1

    See proteins identical to NP_689637.3

    Status: REVIEWED

    Source sequence(s)
    AL355852, DA939151, EF186024
    Consensus CDS
    CCDS14377.2
    UniProtKB/Swiss-Prot
    Q5JTC6
    Related
    ENSP00000329117, OTTHUMP00000196469, ENST00000330258, OTTHUMT00000316584
    Conserved Domains (2) summary
    pfam09422
    Location:95539
    Blast Score: 1328
    WTX; WTX protein
    pfam15346
    Location:576660
    Blast Score: 93
    ARGLU; Arginine and glutamate-rich 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    64185117..64205744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262241.1XP_005262298.1  

    Conserved Domains (2) summary
    pfam09422
    Location:50262
    Blast Score: 644
    WTX; WTX protein
    pfam15346
    Location:299383
    Blast Score: 92
    ARGLU; Arginine and glutamate-rich 1

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    57229959..57249860
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    63297445..63318066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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