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AKTIP AKT interacting protein [ Homo sapiens (human) ]

Gene ID: 64400, updated on 2-Nov-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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See AKTIP in Genome Data Viewer
Location:
16q12.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (53491040..53504412, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (59288844..59302210, complement)
RS_2024_09 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 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. Higher levels of AKT-interacting protein in the frontal pole from people with schizophrenia are limited to a sub-group who have a marked deficit in cortical muscarinic M1 receptors. Snelleksz M, et al. Psychiatry Res, 2024 Nov. PMID 39236366
  2. 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
  3. 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
  4. Fused Toes Homolog modulates radiation cytotoxicity in uterine cervical cancer cells. Anandharaj A, et al. Mol Biol Rep, 2011 Nov. PMID 21424602
  5. 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

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Higher levels of AKT-interacting protein in the frontal pole from people with schizophrenia are limited to a sub-group who have a marked deficit in cortical muscarinic M1 receptors.
    Title: Higher levels of AKT-interacting protein in the frontal pole from people with schizophrenia are limited to a sub-group who have a marked deficit in cortical muscarinic M1 receptors.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. AKTIP interacts with telomeric DNA and is required for telomere maintenance.
    Title: AKTIP/Ft1, a New Shelterin-Interacting Factor Required for Telomere Maintenance.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (17)

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 cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
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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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_2024_08

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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