Format

Send to:

Choose Destination

AKTIP AKT interacting protein [ Homo sapiens (human) ]

Gene ID: 64400, updated on 7-Jun-2020

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
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 
ubiquitin conjugating enzyme activity IBA
Inferred from Biological aspect of Ancestor
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
 
NOT cellular response to DNA damage stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 polyubiquitination IBA
Inferred from Biological aspect of Ancestor
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
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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, ENST00000570004.5
    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, ENST00000300245.8
    Conserved Domains (1) summary
    smart00212
    Location:79222
    UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
  3. NM_022476.4NP_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, ENST00000394657.12
    Conserved Domains (1) summary
    smart00212
    Location:79222
    UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 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
Support Center