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    CUTA cutA divalent cation tolerance homolog [ Homo sapiens (human) ]

    Gene ID: 51596, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CUTAprovided by HGNC
    Official Full Name
    cutA divalent cation tolerance homologprovided by HGNC
    Primary source
    HGNC:HGNC:21101
    See related
    Ensembl:ENSG00000112514 MIM:616953; AllianceGenome:HGNC:21101
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACHAP; C6orf82
    Summary
    Enables enzyme binding activity. Involved in protein localization. Located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 52.9), adrenal (RPKM 52.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CUTA in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (33416442..33418107, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (33237804..33239469, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33384219..33385884, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene kinesin family member C1 Neighboring gene ribosomal protein L12 pseudogene 1 Neighboring gene PHD finger protein 1 Neighboring gene synaptic Ras GTPase activating protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33393157-33393699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33396849-33397470 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:33405630-33405807 Neighboring gene SYNGAP1 antisense RNA 1 Neighboring gene microRNA 5004 Neighboring gene zinc finger and BTB domain containing 9

    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 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. Characterization of the human CUTA isoform2 present in the stably transfected HeLa cells. Yang J, et al. Mol Biol Rep, 2009 Jan. PMID 17924204
    2. Thermodynamic analysis of unusually thermostable CutA1 protein from human brain and its protease susceptibility. Bagautdinov B, et al. J Biochem, 2015 Mar. PMID 25344844
    3. Role of copper and the copper-related protein CUTA in mediating APP processing and Aβ generation. Hou P, et al. Neurobiol Aging, 2015 Mar. PMID 25557959
    4. Hydrophobic protein that copurifies with human brain acetylcholinesterase: amino acid sequence, genomic organization, and chromosomal localization. Navaratnam DS, et al. J Neurochem, 2000 May. PMID 10800960
    5. Two distinct proteins are associated with tetrameric acetylcholinesterase on the cell surface. Perrier AL, et al. J Biol Chem, 2000 Nov 3. PMID 10954708

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epigenome-wide Association Study Shows Differential DNA Methylation of MDC1, KLF9, and CUTA in Autoimmune Thyroid Disease.
      Title: Epigenome-wide Association Study Shows Differential DNA Methylation of MDC1, KLF9, and CUTA in Autoimmune Thyroid Disease.
    2. Human CutA1 exhibits remarkably high thermodynamic stability at body temperature should be important for its protein catabolism in the human cells.
      Title: Thermodynamic analysis of unusually thermostable CutA1 protein from human brain and its protease susceptibility.
    3. It mediates APP processing and Abeta generation.
      Title: Role of copper and the copper-related protein CUTA in mediating APP processing and Aβ generation.
    4. H component of CUTA as a novel BACE1-interacting protein that mediates the intracellular trafficking of BACE1 and the processing of APP to Abeta
      Title: CutA divalent cation tolerance homolog (Escherichia coli) (CUTA) regulates β-cleavage of β-amyloid precursor protein (APP) through interacting with β-site APP cleaving protein 1 (BACE1).
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
    6. expression profile of CUTA gene in tissues was examined & revealed CUTA gene was constitutively expressed in the 18 tissues tested; CUTA isoform2 was mainly located in mitochondria as a new potential mitochondrial protein
      Title: Characterization of the human CUTA isoform2 present in the stably transfected HeLa cells.
    7. Fluorescence in situ hybridization localizes the gene to chromosome 6p21.32-p21.2.
      Title: Hydrophobic protein that copurifies with human brain acetylcholinesterase: amino acid sequence, genomic organization, and chromosomal localization.
    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC111154

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables copper ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to metal ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    protein CutA
    Names
    acetylcholinesterase-associated protein
    brain acetylcholinesterase putative membrane anchor
    divalent cation tolerant protein CUTA

    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.

    mRNA and Protein(s)

    1. NM_001014433.3 → NP_001014433.2  protein CutA isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). This isoform has also been named isoform a.
      Source sequence(s)
      AL662799, BX334868
      Consensus CDS
      CCDS4779.1
      Related
      ENSP00000363624.6, ENST00000374500.10
      Conserved Domains (1) summary
      pfam03091
      Location:48 → 143
      CutA1; CutA1 divalent ion tolerance protein

    2. NM_001014837.2 → NP_001014837.1  protein CutA isoform 1

      See identical proteins and their annotated locations for NP_001014837.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2). Isoform 2 has also been called isoform c. Variants 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AF106943, AL533788, AL662799, BG472577, CN363642
      Consensus CDS
      CCDS4779.1
      UniProtKB/Swiss-Prot
      O60888
      Related
      ENSP00000363620.3, ENST00000374496.3
      Conserved Domains (1) summary
      pfam03091
      Location:48 → 143
      CutA1; CutA1 divalent ion tolerance protein

    3. NM_001014838.2 → NP_001014838.1  protein CutA isoform 1

      See identical proteins and their annotated locations for NP_001014838.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2). Isoform 2 has also been called isoform c. Variants 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AF106943, AL533788, AL662799, BU540844
      Consensus CDS
      CCDS4779.1
      UniProtKB/Swiss-Prot
      O60888
      Related
      ENSP00000475963.1, ENST00000607266.5
      Conserved Domains (1) summary
      pfam03091
      Location:48 → 143
      CutA1; CutA1 divalent ion tolerance protein

    4. NM_001014840.2 → NP_001014840.1  protein CutA isoform 3 precursor

      See identical proteins and their annotated locations for NP_001014840.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 3). Isoform 3 has also been called isoform b.
      Source sequence(s)
      AF106943, AL662799, CB106834, CN363642
      Consensus CDS
      CCDS34433.1
      UniProtKB/Swiss-Prot
      A2AB26, A2BEL4, O60888, Q3B784, Q5JXM9, Q5SU05, Q9NYQ9
      Related
      ENSP00000417544.1, ENST00000488034.6
      Conserved Domains (1) summary
      pfam03091
      Location:71 → 166
      CutA1; CutA1 divalent ion tolerance protein

    5. NM_015921.3 → NP_057005.1  protein CutA isoform 1

      See identical proteins and their annotated locations for NP_057005.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2). Isoform 2 has also been called isoform c. Variants 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AF106943, AL533788, AL662799
      Consensus CDS
      CCDS4779.1
      UniProtKB/Swiss-Prot
      O60888
      Related
      ENSP00000403268.2, ENST00000440279.7
      Conserved Domains (1) summary
      pfam03091
      Location:48 → 143
      CutA1; CutA1 divalent ion tolerance protein

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      33416442..33418107 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      4865167..4866832 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      33237804..33239469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60888.2 GenPept UniProtKB/Swiss-Prot:O60888

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