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 ubiquit... See more...

Aliases for AKTIP Gene

Aliases for AKTIP Gene

  • AKT Interacting Protein 2 3 5
  • AKT-Interacting Protein 3 4
  • FTS 3 4
  • Fused Toes Protein Homolog 4
  • Fused Toes (Mouse) Homolog 2
  • Fused Toes Homolog (Mouse) 2
  • Fused Toes Homolog 3
  • FT1 3
  • Ft1 4

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 Plantar Fascial Fibromatosis and Nodular Tenosynovitis. Among its related pathways are B Cell Receptor Signaling Pathway (sino) and AKT Signaling Pathway. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and acid-amino acid ligase activity. An important paralog of this gene is UBE2O.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for AKTIP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKTIP Gene

Genomics for AKTIP Gene

GeneHancer (GH) Regulatory Elements for AKTIP Gene

Promoters and enhancers for AKTIP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J053500 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 509.3 +1.1 1139 4.9 EP300 FOXK2 ZBTB40 SIN3A NRF1 POLR2G SP1 NCOR1 PHF8 FOS AKTIP lnc-RPGRIP1L-3 RBL2 CHD9 ENSG00000261056 piR-58834
GH16J053453 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 20 +48.1 48053 5.9 SP1 EP300 RELA RAD21 TRIM22 EZH2 BCL11A TCF12 FOXA2 CBFB piR-46748 RBL2 AKTIP NONHSAG019480.2-001 LOC102723373
GH16J053428 Enhancer 0.9 Ensembl ENCODE 24.6 +75.0 74987 2 ZNF217 CTBP1 RELA FOXA2 NFIC GATA3 MYNN CEBPG CEBPB ZNF592 RBL2 AKTIP RF00017-2077 LOC102723373
GH16J053481 Enhancer 0.5 Ensembl 26.3 +23.1 23110 4.6 SPI1 FOS RXRA POLR2A HNF4A HLF MAX HNRNPK SP1 CEBPB ENSG00000279344 NONHSAG019480.2-003 RBL2 AKTIP lnc-AKTIP-4 NONHSAG019480.2-002 NONHSAG019480.2-001
GH16J053529 Enhancer 1.1 VISTA UCNEbase Ensembl CraniofacialAtlas 11.4 -25.4 -25432 1.4 EP300 SMARCA4 RBM39 PKNOX1 POLR2A AKTIP RBL2 RF00017-2079 LOC105371268
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKTIP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKTIP

Top Transcription factor binding sites by QIAGEN in the AKTIP gene promoter:
  • AP-4
  • ATF-2
  • Lhx3a
  • LHX3b
  • MyoD
  • Oct-B1
  • oct-B2
  • oct-B3
  • p53

Genomic Locations for AKTIP Gene

Genomic Locations for AKTIP Gene
chr16:53,491,040-53,504,411
(GRCh38/hg38)
Size:
13,372 bases
Orientation:
Minus strand
chr16:53,524,952-53,538,323
(GRCh37/hg19)
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

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for AKTIP Gene

Blocks:
  • Ubiquitin-conjugating enzymes
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AKTIP Gene

GenScript: Design optimal peptide antigens:
  • Fused toes protein homolog (AKTIP_HUMAN)

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.

Phenotypes From GWAS Catalog for AKTIP Gene

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:0061631 ubiquitin conjugating enzyme activity IBA 21873635
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:
  • Aktip Aktip<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for AKTIP

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AKTIP gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytosol 4
mitochondrion 3
extracellular 2
cytoskeleton 2
golgi apparatus 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for AKTIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA 14749367
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AKTIP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AKTIP Gene

Pathways & Interactions for AKTIP Gene

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

Pathways by source for AKTIP Gene

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:0006974 cellular response to DNA damage stimulus IBA 21873635
GO:0007032 endosome organization IMP 18799622
GO:0007040 lysosome organization IMP 18799622
genes like me logo Genes that share ontologies with AKTIP: view

No data available for SIGNOR curated interactions for AKTIP Gene

Drugs & Compounds for AKTIP Gene

No Compound Related Data Available

Transcripts for AKTIP Gene

mRNA/cDNA for AKTIP Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for AKTIP

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

Expression for AKTIP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for AKTIP Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKTIP

SOURCE GeneReport for Unigene cluster for AKTIP Gene:

Hs.380897

Evidence on tissue expression from TISSUES for AKTIP Gene

  • Skin(4.3)
  • Nervous system(4.2)
  • Blood(2.6)
  • Heart(2.3)
  • Muscle(2.3)
  • Spleen(2.2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with AKTIP: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia AKTIP 31 30
  • 99.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AKTIP 31 30
  • 94.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AKTIP 31 30
  • 94.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aktip 30
  • 90.41 (n)
mouse
(Mus musculus)
Mammalia Aktip 17 31 30
  • 89.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AKTIP 31
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AKTIP 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves AKTIP 31 30
  • 80.71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AKTIP 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aktip 30
  • 75.26 (n)
Str.2976 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33930 30
zebrafish
(Danio rerio)
Actinopterygii aktip 31 30
  • 74.06 (n)
OneToOne
fts 30
fruit fly
(Drosophila melanogaster)
Insecta cbx 31 30
  • 50.08 (n)
OneToMany
CG16894 31
  • 27 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AKTIP_ANOGA 30
  • 47.99 (n)
worm
(Caenorhabditis elegans)
Secernentea ubc-19 31
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea Cin.6708 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6708 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for AKTIP: view image

Paralogs for AKTIP Gene

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

  • AKTIP_HUMAN
  • H3BM79_HUMAN
  • H3BNB8_HUMAN
  • H3BRT7_HUMAN
  • H3BRV2_HUMAN
  • H3BSX7_HUMAN
  • H3BVH0_HUMAN

Pseudogenes.org Pseudogenes for AKTIP Gene

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

Variants for AKTIP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKTIP Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
725925 Likely Benign: not provided 53,494,145(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for AKTIP Gene

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)

Additional Variant Information for AKTIP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AKTIP Gene

MalaCards: The human disease database

(7) MalaCards diseases for AKTIP Gene - From: DISEASES

Disorder Aliases PubMed IDs
plantar fascial fibromatosis
  • dupuytren's contracture of foot
nodular tenosynovitis
  • benign synovioma
tenosynovitis
  • inflammation of tendon sheath
synovium neoplasm
  • synovial neoplasm
salpingitis
- elite association - COSMIC cancer census association via MalaCards
Search AKTIP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AKTIP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 LA … Romano-Silva MA (Genes, brain, and behavior 2010) 3 41 54
  2. Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival. (PMID: 19270026) Quaye L … Gayther SA (Human molecular genetics 2009) 3 41 54
  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 JW (Molecular biology of the cell 2008) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for AKTIP Gene

Sources for AKTIP Gene