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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
  • AKT-Interacting Protein 3
  • 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

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

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

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.

Gene Ontology (GO) - Molecular Function for AKTIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18799622
GO:0019787 NOT ubiquitin-like protein transferase activity NAS 18799622
GO:0031625 ubiquitin protein ligase binding IBA --
GO:0061630 ubiquitin protein ligase activity IBA --
genes like me logo Genes that share ontologies with AKTIP: view
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AKTIP

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA 14749367
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:0001934 positive regulation of protein phosphorylation IDA 14749367
GO:0006915 apoptotic process IEA --
GO:0007032 endosome organization IMP 18799622
GO:0007040 lysosome organization IMP 18799622
GO:0008333 endosome to lysosome 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AKTIP

Flow Cytometry Products

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, MaxQB, and MOPED for AKTIP Gene



NURSA nuclear receptor signaling pathways regulating expression of AKTIP Gene:

AKTIP

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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34
  • 94.29 (n)
  • 98.63 (a)
AKTIP 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AKTIP 34
  • 94.29 (n)
  • 97.26 (a)
AKTIP 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aktip 34
  • 89.61 (n)
  • 96.23 (a)
Aktip 16
Aktip 35
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AKTIP 34
  • 99.66 (n)
  • 100 (a)
AKTIP 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aktip 34
  • 90.41 (n)
  • 95.89 (a)
oppossum
(Monodelphis domestica)
Mammalia AKTIP 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKTIP 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKTIP 34
  • 80.71 (n)
  • 87.67 (a)
AKTIP 35
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AKTIP 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aktip 34
  • 75.26 (n)
  • 83.85 (a)
Str.2976 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.33930 34
zebrafish
(Danio rerio)
Actinopterygii aktip 34
  • 74.06 (n)
  • 81.32 (a)
fts 34
aktip 35
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AKTIP_ANOGA 34
  • 47.99 (n)
  • 38.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta cbx 34
  • 50.08 (n)
  • 39.34 (a)
cbx 35
  • 36 (a)
OneToMany
CG16894 35
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ubc-19 35
  • 28 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6708 34
Species where no ortholog for AKTIP was found in the sources mined by GeneCards:
  • 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
rs3095636 -- 53,494,736(-) AGCCC(C/T)CTTGA intron-variant
rs3743772 -- 53,503,511(+) AGTAT(A/C)GGCCC intron-variant, upstream-variant-2KB
rs3809634 -- 53,504,245(-) CGAGA(C/T)TGGAC intron-variant, upstream-variant-2KB
rs3864246 -- 53,492,181(+) AATAA(C/T)TTGGA utr-variant-3-prime
rs3956281 -- 53,492,330(-) TGCCT(G/T)AAGAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for AKTIP Gene

Variant ID Type Subtype PubMed ID
nsv978151 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
AKTIP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKTIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKTIP Gene

Disorders for AKTIP Gene

MalaCards: The human disease database

(8) 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 46 65
  2. Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival. (PMID: 19270026) Quaye L. … Gayther S.A. (Hum. Mol. Genet. 2009) 3 46 65
  3. An FTS/Hook/p107(FHIP) complex interacts with and promotes endosomal clustering by the homotypic vacuolar protein sorting complex. (PMID: 18799622) Xu L. … Harper J.W. (Mol. Biol. Cell 2008) 3 4 65
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  5. Regulation of apoptosis by the Ft1 protein, a new modulator of protein kinase B/Akt. (PMID: 14749367) Remy I. … Michnick S.W. (Mol. Cell. Biol. 2004) 3 4 65

Products for AKTIP Gene

Sources for AKTIP Gene

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