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

Gene ID: 139285, updated on 3-Sep-2017
Official Symbol
AMER1provided by HGNC
Official Full Name
APC membrane recruitment protein 1provided by HGNC
Primary source
HGNC:HGNC:26837
See related
Ensembl:ENSG00000184675 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]
Orthologs
Location:
Xq11.2
Exon count:
2
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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 pseudogene 1 Neighboring gene zinc finger protein 670 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 799, pseudogene Neighboring gene ankyrin repeat and SOCS box containing 12

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ39827

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-catenin binding IDA
Inferred from Direct Assay
more info
PubMed 
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
beta-catenin destruction complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
APC membrane recruitment protein 1
Names
RP11-403E24.2
Wilms tumor gene on the X chromosome protein
Wilms tumor on the X
adenomatous polyposis coli membrane recruitment 1
family with sequence similarity 123B
protein FAM123B

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 RefSeqGene

    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 identical proteins and their annotated locations for NP_689637.3

    Status: REVIEWED

    Source sequence(s)
    AL355852, DA939151, EF186024
    Consensus CDS
    CCDS14377.2
    UniProtKB/Swiss-Prot
    Q5JTC6
    Related
    ENSP00000329117.3, OTTHUMP00000196469, ENST00000330258.3, OTTHUMT00000316584
    Conserved Domains (1) summary
    pfam09422
    Location:95534
    WTX; WTX protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

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