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Aliases for AKTIP Gene

Aliases for AKTIP Gene

  • AKT Interacting Protein 2 3 5
  • FT1 3 4
  • FTS 3 4
  • Fused Toes (Mouse) Homolog 2
  • Fused Toes Homolog (Mouse) 2
  • Fused Toes Protein Homolog 4
  • Fused Toes Homolog 3

External Ids for AKTIP Gene

Previous HGNC Symbols for AKTIP Gene

  • FTS

Previous GeneCards Identifiers for AKTIP Gene

  • GC16M052082
  • GC16M053524
  • GC16M039412

Summaries for AKTIP Gene

Entrez Gene Summary for AKTIP Gene

  • 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]

GeneCards Summary for AKTIP Gene

AKTIP (AKT Interacting Protein) is a Protein Coding gene. Diseases associated with AKTIP include thymic hyperplasia and balanitis xerotica obliterans. GO annotations related to this gene include ubiquitin protein ligase binding and acid-amino acid ligase activity.

UniProtKB/Swiss-Prot for AKTIP Gene

  • Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Regulates apoptosis by enhancing phosphorylation and activation of AKT1. Increases release of TNFSF6 via the AKT1/GSK3B/NFATC1 signaling cascade.

Gene Wiki entry for AKTIP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKTIP Gene

Genomics for AKTIP Gene

Regulatory Elements for AKTIP Gene

Enhancers for AKTIP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AKTIP on UCSC Golden Path with GeneCards custom track

Promoters for AKTIP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AKTIP on UCSC Golden Path with GeneCards custom track

Genomic Location for AKTIP Gene

Chromosome:
16
Start:
53,491,040 bp from pter
End:
53,504,411 bp from pter
Size:
13,372 bases
Orientation:
Minus strand

Genomic View for AKTIP Gene

Genes around AKTIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKTIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKTIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKTIP Gene

Proteins for AKTIP Gene

  • Protein details for AKTIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H8T0-AKTIP_HUMAN
    Recommended name:
    AKT-interacting protein
    Protein Accession:
    Q9H8T0
    Secondary Accessions:
    • Q503B1
    • Q53H38

    Protein attributes for AKTIP Gene

    Size:
    292 amino acids
    Molecular mass:
    33128 Da
    Quaternary structure:
    • Component of the FTS/Hook/FHIP complex (FHF complex), composed of AKTIP/FTS, FAM160A2, and one or more members of the Hook family of proteins HOOK1, HOOK2, and HOOK3. May interact directly with HOOK1, HOOK2 and HOOK3. The FHF complex associates with the homotypic vesicular sorting complex (the HOPS complex). Also interacts with AKT1.

    Alternative splice isoforms for AKTIP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKTIP Gene

Proteomics data for AKTIP Gene at MOPED

Post-translational modifications for AKTIP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AKTIP Gene

Domains & Families for AKTIP Gene

Gene Families for AKTIP Gene

Protein Domains for AKTIP Gene

Suggested Antigen Peptide Sequences for AKTIP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H8T0

UniProtKB/Swiss-Prot:

AKTIP_HUMAN :
  • Belongs to the ubiquitin-conjugating enzyme family. FTS subfamily.
Family:
  • Belongs to the ubiquitin-conjugating enzyme family. FTS subfamily.
genes like me logo Genes that share domains with AKTIP: view

Function for AKTIP Gene

Molecular function for AKTIP Gene

UniProtKB/Swiss-Prot Function:
Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Regulates apoptosis by enhancing phosphorylation and activation of AKT1. Increases release of TNFSF6 via the AKT1/GSK3B/NFATC1 signaling cascade.
genes like me logo Genes that share phenotypes with AKTIP: view

Animal Models for AKTIP Gene

MGI Knock Outs for AKTIP:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AKTIP Gene

Localization for AKTIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKTIP Gene

Cytoplasm. Cell membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AKTIP Gene COMPARTMENTS Subcellular localization image for AKTIP gene
Compartment Confidence
golgi apparatus 5
nucleus 5
plasma membrane 5
cytosol 3
mitochondrion 2
cytoskeleton 1
endosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for AKTIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 14749367
GO:0070695 FHF complex IDA 18799622
genes like me logo Genes that share ontologies with AKTIP: view

Pathways & Interactions for AKTIP Gene

SuperPathways for AKTIP Gene

No Data Available

Gene Ontology (GO) - Biological Process for AKTIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0032092 positive regulation of protein binding IDA 14749367
GO:0045022 early endosome to late endosome transport IMP 18799622
genes like me logo Genes that share ontologies with AKTIP: view

No data available for Pathways by source and SIGNOR curated interactions for AKTIP Gene

Drugs & Compounds for AKTIP Gene

No Compound Related Data Available

Transcripts for AKTIP Gene

Unigene Clusters for AKTIP Gene

AKT interacting protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AKTIP Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ·
SP1: - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - -
SP5: - - - - -
SP6: - -
SP7: - - - - - - -
SP8: - - -
SP9: - - - - - - -
SP10: - - - - -
SP11: - - - -
SP12: - -
SP13:
SP14:

ExUns: 15c · 15d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for AKTIP Gene

GeneLoc Exon Structure for
AKTIP
ECgene alternative splicing isoforms for
AKTIP

Expression for AKTIP Gene

mRNA expression in normal human tissues for AKTIP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AKTIP Gene

This gene is overexpressed in Retina (10.1), Bone (8.7), Salivary gland (8.6), and Testis (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AKTIP Gene



SOURCE GeneReport for Unigene cluster for AKTIP Gene Hs.380897

genes like me logo Genes that share expression patterns with AKTIP: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for AKTIP Gene

Orthologs for AKTIP Gene

This gene was present in the common ancestor of animals.

Orthologs for AKTIP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AKTIP 35
  • 94.29 (n)
  • 98.63 (a)
AKTIP 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AKTIP 35
  • 94.29 (n)
  • 97.26 (a)
AKTIP 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aktip 35
  • 89.61 (n)
  • 96.23 (a)
Aktip 16
Aktip 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AKTIP 35
  • 99.66 (n)
  • 100 (a)
AKTIP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aktip 35
  • 90.41 (n)
  • 95.89 (a)
oppossum
(Monodelphis domestica)
Mammalia AKTIP 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKTIP 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKTIP 35
  • 80.71 (n)
  • 87.67 (a)
AKTIP 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AKTIP 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aktip 35
  • 75.26 (n)
  • 83.85 (a)
Str.2976 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.33930 35
zebrafish
(Danio rerio)
Actinopterygii aktip 35
  • 74.06 (n)
  • 81.32 (a)
fts 35
aktip 36
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AKTIP_ANOGA 35
  • 47.99 (n)
  • 38.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta cbx 35
  • 50.08 (n)
  • 39.34 (a)
cbx 36
  • 36 (a)
OneToMany
CG16894 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ubc-19 36
  • 28 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6708 35
Species with no ortholog for AKTIP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AKTIP Gene

ENSEMBL:
Gene Tree for AKTIP (if available)
TreeFam:
Gene Tree for AKTIP (if available)

Paralogs for AKTIP Gene

(1) SIMAP similar genes for AKTIP Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for AKTIP Gene

genes like me logo Genes that share paralogs with AKTIP: view

No data available for Paralogs for AKTIP Gene

Variants for AKTIP Gene

Sequence variations from dbSNP and Humsavar for AKTIP Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs3864246 -- 53,492,181(+) AATAA(C/T)TTGGA utr-variant-3-prime
rs3956281 -- 53,492,330(-) TGCCT(G/T)AAGAG utr-variant-3-prime
rs4002162 -- 53,492,224(-) ACTTC(G/T)GTCAG utr-variant-3-prime
rs4002163 -- 53,492,151(-) AAGTA(-/AGTA)TTTTT utr-variant-3-prime
rs9302648 -- 53,493,869(+) ACATG(G/T)GAATG intron-variant

Variation tolerance for AKTIP Gene

Residual Variation Intolerance Score: 36.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AKTIP Gene

HapMap Linkage Disequilibrium report
AKTIP
Human Gene Mutation Database (HGMD)
AKTIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for AKTIP Gene

Disorders for AKTIP Gene

MalaCards: The human disease database

(9) MalaCards diseases for AKTIP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
thymic hyperplasia
  • hyperplasia of thymus gland
balanitis xerotica obliterans
  • penile lichen sclerosus
tenosynovitis
  • inflammation of tendon sheath
thymic dysplasia
geographic tongue
  • benign migratory glossitis
- elite association - COSMIC cancer census association via MalaCards
Search AKTIP in MalaCards View complete list of genes associated with diseases

Relevant External Links for AKTIP

Genetic Association Database (GAD)
AKTIP
Human Genome Epidemiology (HuGE) Navigator
AKTIP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AKTIP
genes like me logo Genes that share disorders with AKTIP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AKTIP Gene

Publications for AKTIP Gene

  1. Association between AKT1 but not AKTIP genetic variants and increased risk for suicidal behavior in bipolar patients. (PMID: 20132317) Magno L.A. … Romano-Silva M.A. (Genes Brain Behav. 2010) 3 48 67
  2. Ft1, a novel gene related to ubiquitin-conjugating enzymes, is deleted in the Fused toes mouse mutation. (PMID: 9383278) Lesche R. … RA1ther U. (Mamm. Genome 1997) 3 23
  3. A cDNA encoding the calcitonin gene-related peptide type 1 receptor. (PMID: 8626685) Aiyar N. … Li Y. (J. Biol. Chem. 1996) 2 3
  4. FTS is responsible for radiation-induced nuclear phosphorylation of EGFR and repair of DNA damage in cervical cancer cells. (PMID: 25151576) Muthusami S. … Park W.Y. (J. Cancer Res. Clin. Oncol. 2015) 3
  5. AKTIP/Ft1, a New Shelterin-Interacting Factor Required for Telomere Maintenance. (PMID: 26110528) Burla R. … Saggio I. (PLoS Genet. 2015) 3

Products for AKTIP Gene

Sources for AKTIP Gene

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