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    AKTIP AKT interacting protein [ Homo sapiens (human) ]

    Gene ID: 64400, updated on 11-Apr-2024

    Summary

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    Official Symbol
    AKTIPprovided by HGNC
    Official Full Name
    AKT interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:16710
    See related
    Ensembl:ENSG00000166971 MIM:608483; AllianceGenome:HGNC:16710
    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
    FT1; FTS
    Summary
    The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 23.1), brain (RPKM 22.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16q12.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (53491040..53504412, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (59288844..59302210, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (53524952..53537121, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723373 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:53411888-53413087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10842 Neighboring gene RNA, U6 small nuclear 1153, pseudogene Neighboring gene RB transcriptional corepressor like 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:53536317-53536818 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:53536819-53537318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7500 Neighboring gene uncharacterized LOC124903690 Neighboring gene uncharacterized LOC105371268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10846 Neighboring gene uncharacterized LOC105371269 Neighboring gene NANOG hESC enhancer GRCh37_chr16:53580827-53581328

    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. AKTIP loss is enriched in ERα-positive breast cancer for tumorigenesis and confers endocrine resistance. Ng ASN, et al. Cell Rep, 2022 Dec 13. PMID 36516775, Free PMC Article
    2. EGF-induced expression of Fused Toes Homolog (FTS) facilitates epithelial-mesenchymal transition and promotes cell migration in ME180 cervical cancer cells. Muthusami S, et al. Cancer Lett, 2014 Sep 1. PMID 24971934
    3. Fused Toes Homolog modulates radiation cytotoxicity in uterine cervical cancer cells. Anandharaj A, et al. Mol Biol Rep, 2011 Nov. PMID 21424602
    4. FTS (fused toes homolog) a novel oncoprotein involved in uterine cervical carcinogenesis and a potential diagnostic marker for cervical cancer. Cinghu S, et al. J Cell Physiol, 2011 Jun. PMID 20945372
    5. FTS is responsible for radiation-induced nuclear phosphorylation of EGFR and repair of DNA damage in cervical cancer cells. Muthusami S, et al. J Cancer Res Clin Oncol, 2015 Feb. PMID 25151576

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AKTIP loss is enriched in ERalpha-positive breast cancer for tumorigenesis and confers endocrine resistance.
      Title: AKTIP loss is enriched in ERα-positive breast cancer for tumorigenesis and confers endocrine resistance.
    2. Combined alteration of lamin and nuclear morphology influences the localization of the tumor-associated factor AKTIP.
      Title: Combined alteration of lamin and nuclear morphology influences the localization of the tumor-associated factor AKTIP.
    3. AKTIP interacts with ESCRT I and is needed for the recruitment of ESCRT III subunits to the midbody.
      Title: AKTIP interacts with ESCRT I and is needed for the recruitment of ESCRT III subunits to the midbody.
    4. Results show that AKTIP co-purifies with A- and B-type lamins and partially co-localizes with lamins in interphase nuclei. In addition, AKTIP depletion lowers lamin A expression and induces senescence hallmarks including telomere homeostasis in human primary fibroblasts.
      Title: The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence.
    5. results suggest that AKT1, FTO, and AKTIP polymorphisms were not associated with obesity/overweight in Brazilians children.
      Title: Lack of association between genetic polymorphism of FTO, AKT1 and AKTIP in childhood overweight and obesity.
    6. FTS is involved in EGFR-mediated repair of DNA damage induced by cisplatin in ME180 cells
      Title: Silencing of fused toes homolog enhances cisplatin sensitivity in cervical cancer cells by inhibiting epidermal growth factor receptor-mediated repair of DNA damage.
    7. AKTIP interacts with telomeric DNA and is required for telomere maintenance.
      Title: AKTIP/Ft1, a New Shelterin-Interacting Factor Required for Telomere Maintenance.
    8. High fused toes homolog expression is associated with radioresistance in cervical cancer.
      Title: FTS is responsible for radiation-induced nuclear phosphorylation of EGFR and repair of DNA damage in cervical cancer cells.
    9. FTS silencing reduced EMT and cell migration by EGF treatment. These results demonstrate a novel function for FTS in EGF-mediated EMT process.
      Title: EGF-induced expression of Fused Toes Homolog (FTS) facilitates epithelial-mesenchymal transition and promotes cell migration in ME180 cervical cancer cells.
    10. *AKTIP single nucleotide polymorphisms are not associated with late-onset depression patients compared to healthy elderly controls.
      Title: Genetic variant of AKT1 and AKTIP associated with late-onset depression in a Brazilian population.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NEDD8 transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables ubiquitin-like protein transferase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in early endosome to late endosome transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to perinuclear region of cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein neddylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of FHF complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of HOPS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    AKT-interacting protein
    Names
    fused toes homolog

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001012398.3 → NP_001012398.1  AKT-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_001012398.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC007342, BC001134, BM992149
      Consensus CDS
      CCDS10749.1
      UniProtKB/Swiss-Prot
      Q503B1, Q53H38, Q9H8T0
      Related
      ENSP00000455874.1, ENST00000570004.5
      Conserved Domains (1) summary
      smart00212
      Location:79 → 222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

    2. NM_001308325.2 → NP_001295254.1  AKT-interacting protein isoform 2

      See identical proteins and their annotated locations for NP_001295254.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the central coding region compared to variant 1. The encoded isoform (2) is longer than isoform 1.
      Source sequence(s)
      AK098222, AK222743, BC095401, BM992149
      Consensus CDS
      CCDS76866.1
      Related
      ENSP00000300245.4, ENST00000300245.8
      Conserved Domains (1) summary
      smart00212
      Location:79 → 222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

    3. NM_022476.4 → NP_071921.1  AKT-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_071921.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC007342, AK023320, BM992149
      Consensus CDS
      CCDS10749.1
      UniProtKB/Swiss-Prot
      Q503B1, Q53H38, Q9H8T0
      Related
      ENSP00000378152.6, ENST00000394657.12
      Conserved Domains (1) summary
      smart00212
      Location:79 → 222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      53491040..53504412 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023566.2 → XP_016879055.1  AKT-interacting protein isoform X2

      UniProtKB/Swiss-Prot
      Q503B1, Q53H38, Q9H8T0
      Conserved Domains (1) summary
      smart00212
      Location:79 → 222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

    2. XM_005256098.6 → XP_005256155.1  AKT-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_005256155.1

      Conserved Domains (1) summary
      smart00212
      Location:79 → 222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

    3. XM_047434486.1 → XP_047290442.1  AKT-interacting protein isoform X2

      UniProtKB/Swiss-Prot
      Q503B1, Q53H38, Q9H8T0

    4. XM_047434485.1 → XP_047290441.1  AKT-interacting protein isoform X1

    5. XM_017023565.2 → XP_016879054.1  AKT-interacting protein isoform X2

      UniProtKB/Swiss-Prot
      Q503B1, Q53H38, Q9H8T0
      Conserved Domains (1) summary
      smart00212
      Location:79 → 222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

    6. XM_005256096.6 → XP_005256153.1  AKT-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_005256153.1

      Conserved Domains (1) summary
      smart00212
      Location:79 → 222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

    7. XM_005256097.6 → XP_005256154.1  AKT-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_005256154.1

      Conserved Domains (1) summary
      smart00212
      Location:79 → 222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

    8. XM_017023564.3 → XP_016879053.1  AKT-interacting protein isoform X2

      UniProtKB/Swiss-Prot
      Q503B1, Q53H38, Q9H8T0
      Conserved Domains (1) summary
      smart00212
      Location:79 → 222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

    9. XM_005256095.6 → XP_005256152.1  AKT-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_005256152.1

      Conserved Domains (1) summary
      smart00212
      Location:79 → 222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      59288844..59302210 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313686.1 → XP_054169661.1  AKT-interacting protein isoform X2

      UniProtKB/Swiss-Prot
      Q503B1, Q53H38, Q9H8T0

    2. XM_054313681.1 → XP_054169656.1  AKT-interacting protein isoform X1

    3. XM_054313687.1 → XP_054169662.1  AKT-interacting protein isoform X2

      UniProtKB/Swiss-Prot
      Q503B1, Q53H38, Q9H8T0

    4. XM_054313682.1 → XP_054169657.1  AKT-interacting protein isoform X1

    5. XM_054313688.1 → XP_054169663.1  AKT-interacting protein isoform X2

      UniProtKB/Swiss-Prot
      Q503B1, Q53H38, Q9H8T0

    6. XM_054313684.1 → XP_054169659.1  AKT-interacting protein isoform X1

    7. XM_054313683.1 → XP_054169658.1  AKT-interacting protein isoform X1

    8. XM_054313680.1 → XP_054169655.1  AKT-interacting protein isoform X1

    9. XM_054313685.1 → XP_054169660.1  AKT-interacting protein isoform X2

      UniProtKB/Swiss-Prot
      Q503B1, Q53H38, Q9H8T0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H8T0.1 GenPept UniProtKB/Swiss-Prot:Q9H8T0

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