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    AKTIP AKT interacting protein [ Homo sapiens (human) ]

    Gene ID: 64400, updated on 2-Oct-2018

    Summary

    Official Symbol
    AKTIPprovided by HGNC
    Official Full Name
    AKT interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:16710
    See related
    Ensembl:ENSG00000166971 MIM:608483; Vega:OTTHUMG00000133199
    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

    Genomic context

    See AKTIP in Genome Data Viewer
    Location:
    16q12.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (53491040..53504411, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (53525192..53538323, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723373 Neighboring gene RNA, U6 small nuclear 1153, pseudogene Neighboring gene RB transcriptional corepressor like 2 Neighboring gene uncharacterized LOC105371268 Neighboring gene uncharacterized LOC105371269

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT ubiquitin-like protein transferase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    early endosome to late endosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    FHF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with HOPS complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    AKT-interacting protein
    Names
    fused toes homolog

    NCBI Reference Sequences (RefSeq)

    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_001012398.2NP_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
      Q9H8T0
      UniProtKB/TrEMBL
      A0A024R6T5
      Related
      ENSP00000455874.1, OTTHUMP00000250229, ENST00000570004.5, OTTHUMT00000422491
      Conserved Domains (1) summary
      smart00212
      Location:79222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
    2. NM_001308325.1NP_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)
      AC007342, AK098222, AK222743, BC095401, BM992149
      Consensus CDS
      CCDS76866.1
      UniProtKB/Swiss-Prot
      Q9H8T0
      UniProtKB/TrEMBL
      A0A024R6S6
      Related
      ENSP00000300245.4, OTTHUMP00000250228, ENST00000300245.8, OTTHUMT00000422489
      Conserved Domains (1) summary
      smart00212
      Location:79222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
    3. NM_022476.3NP_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
      Q9H8T0
      UniProtKB/TrEMBL
      A0A024R6T5
      Related
      ENSP00000378152.6, OTTHUMP00000164256, ENST00000394657.11, OTTHUMT00000256909
      Conserved Domains (1) summary
      smart00212
      Location:79222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

      Range
      53491040..53504411 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256098.5XP_005256155.1  AKT-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_005256155.1

      UniProtKB/Swiss-Prot
      Q9H8T0
      UniProtKB/TrEMBL
      A0A024R6S6
      Conserved Domains (1) summary
      smart00212
      Location:79222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
    2. XM_005256097.5XP_005256154.1  AKT-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_005256154.1

      UniProtKB/Swiss-Prot
      Q9H8T0
      UniProtKB/TrEMBL
      A0A024R6S6
      Conserved Domains (1) summary
      smart00212
      Location:79222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
    3. XM_005256096.5XP_005256153.1  AKT-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_005256153.1

      UniProtKB/Swiss-Prot
      Q9H8T0
      UniProtKB/TrEMBL
      A0A024R6S6
      Conserved Domains (1) summary
      smart00212
      Location:79222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
    4. XM_017023564.2XP_016879053.1  AKT-interacting protein isoform X2

      UniProtKB/Swiss-Prot
      Q9H8T0
      UniProtKB/TrEMBL
      A0A024R6T5
      Conserved Domains (1) summary
      smart00212
      Location:79222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
    5. XM_005256095.5XP_005256152.1  AKT-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_005256152.1

      UniProtKB/Swiss-Prot
      Q9H8T0
      UniProtKB/TrEMBL
      A0A024R6S6
      Conserved Domains (1) summary
      smart00212
      Location:79222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
    6. XM_017023566.1XP_016879055.1  AKT-interacting protein isoform X2

      UniProtKB/Swiss-Prot
      Q9H8T0
      UniProtKB/TrEMBL
      A0A024R6T5
      Conserved Domains (1) summary
      smart00212
      Location:79222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
    7. XM_017023565.1XP_016879054.1  AKT-interacting protein isoform X2

      UniProtKB/Swiss-Prot
      Q9H8T0
      UniProtKB/TrEMBL
      A0A024R6T5
      Conserved Domains (1) summary
      smart00212
      Location:79222
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
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