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Aliases for AHCTF1 Gene

Aliases for AHCTF1 Gene

  • AT-Hook Containing Transcription Factor 1 2 3 5
  • Putative AT-Hook-Containing Transcription Factor 1 3 4
  • Embryonic Large Molecule Derived From Yolk Sac 3 4
  • ELYS Transcription Factor Like Protein TMBS62 2 3
  • AT Hook Containing Transcription Factor 1 2 3
  • TMBS62 3 4
  • ELYS 3 4
  • ELYS Transcription Factor-Like Protein TMBS62 3
  • Protein MEL-28 4
  • MSTP108 3
  • MST108 3

External Ids for AHCTF1 Gene

Previous GeneCards Identifiers for AHCTF1 Gene

  • GC01M243329
  • GC01M245069
  • GC01M247002
  • GC01M217396

Summaries for AHCTF1 Gene

GeneCards Summary for AHCTF1 Gene

AHCTF1 (AT-Hook Containing Transcription Factor 1) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding.

UniProtKB/Swiss-Prot for AHCTF1 Gene

  • Required for the assembly of a functional nuclear pore complex (NPC) on the surface of chromosomes as nuclei form at the end of mitosis. May initiate NPC assembly by binding to chromatin and recruiting the Nup107-160 subcomplex of the NPC. Also required for the localization of the Nup107-160 subcomplex of the NPC to the kinetochore during mitosis and for the completion of cytokinesis.

Gene Wiki entry for AHCTF1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AHCTF1 Gene

Genomics for AHCTF1 Gene

Regulatory Elements for AHCTF1 Gene

Promoters for AHCTF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AHCTF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AHCTF1 Gene

Chromosome:
1
Start:
246,839,098 bp from pter
End:
246,931,978 bp from pter
Size:
92,881 bases
Orientation:
Minus strand

Genomic View for AHCTF1 Gene

Genes around AHCTF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AHCTF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AHCTF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AHCTF1 Gene

Proteins for AHCTF1 Gene

  • Protein details for AHCTF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WYP5-ELYS_HUMAN
    Recommended name:
    Protein ELYS
    Protein Accession:
    Q8WYP5
    Secondary Accessions:
    • A6NGM0
    • A8MSG9
    • A8MZ86
    • Q7Z4E3
    • Q8IZA4
    • Q96EH9
    • Q9Y4Q6

    Protein attributes for AHCTF1 Gene

    Size:
    2266 amino acids
    Molecular mass:
    252498 Da
    Quaternary structure:
    • Associates with the Nup107-160 subcomplex of the NPC.
    SequenceCaution:
    • Sequence=AAN65622.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAQ13621.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB78516.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for AHCTF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AHCTF1 Gene

Proteomics data for AHCTF1 Gene at MOPED

Post-translational modifications for AHCTF1 Gene

  • Ubiquitination at Lys 42, Lys 505, Lys 717, Lys 969, Lys 1002, Lys 1069, and Lys 1141
  • Modification sites at PhosphoSitePlus

Other Protein References for AHCTF1 Gene

No data available for DME Specific Peptides for AHCTF1 Gene

Domains & Families for AHCTF1 Gene

Gene Families for AHCTF1 Gene

Protein Domains for AHCTF1 Gene

Suggested Antigen Peptide Sequences for AHCTF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WYP5

UniProtKB/Swiss-Prot:

ELYS_HUMAN :
  • The N-terminus forms a highly conserved seven-bladed beta propeller decorated with long loops and mediates anchorage to the Nup107-160 subcomplex of the nuclear pore, synergistically with the central alpha domain. The disordered C-terminus is responsible for the interactions with chromatin (By similarity).
  • Belongs to the ELYS family.
Domain:
  • The N-terminus forms a highly conserved seven-bladed beta propeller decorated with long loops and mediates anchorage to the Nup107-160 subcomplex of the nuclear pore, synergistically with the central alpha domain. The disordered C-terminus is responsible for the interactions with chromatin (By similarity).
  • Contains 1 A.T hook DNA-binding domain.
Family:
  • Belongs to the ELYS family.
genes like me logo Genes that share domains with AHCTF1: view

Function for AHCTF1 Gene

Molecular function for AHCTF1 Gene

UniProtKB/Swiss-Prot Function:
Required for the assembly of a functional nuclear pore complex (NPC) on the surface of chromosomes as nuclei form at the end of mitosis. May initiate NPC assembly by binding to chromatin and recruiting the Nup107-160 subcomplex of the NPC. Also required for the localization of the Nup107-160 subcomplex of the NPC to the kinetochore during mitosis and for the completion of cytokinesis.
genes like me logo Genes that share phenotypes with AHCTF1: view

Animal Models for AHCTF1 Gene

MGI Knock Outs for AHCTF1:

Animal Model Products

CRISPR Products

miRNA for AHCTF1 Gene

miRTarBase miRNAs that target AHCTF1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AHCTF1 Gene

Localization for AHCTF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHCTF1 Gene

Cytoplasm. Nucleus matrix. Chromosome, centromere, kinetochore. Nucleus, nucleoplasm. Nucleus, nuclear pore complex. Note=Localizes to the nuclear pore complex (NPC) throughout interphase. Localizes to the kinetochore from prophase, and this appears to require the Nup107-160 subcomplex of the NPC. Localizes to the periphery of chromatin from late anaphase.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AHCTF1 Gene COMPARTMENTS Subcellular localization image for AHCTF1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AHCTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 colocalizes_with chromatin IDA 17098863
GO:0005634 nucleus IDA 17098863
GO:0005654 nucleoplasm IEA --
GO:0005829 cytosol TAS --
GO:0031080 colocalizes_with nuclear pore outer ring IDA 17098863
genes like me logo Genes that share ontologies with AHCTF1: view

Pathways & Interactions for AHCTF1 Gene

genes like me logo Genes that share pathways with AHCTF1: view

Pathways by source for AHCTF1 Gene

1 BioSystems pathway for AHCTF1 Gene

Gene Ontology (GO) - Biological Process for AHCTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000910 cytokinesis IMP 17098863
GO:0051292 nuclear pore complex assembly IMP 17098863
genes like me logo Genes that share ontologies with AHCTF1: view

No data available for SIGNOR curated interactions for AHCTF1 Gene

Drugs & Compounds for AHCTF1 Gene

No Compound Related Data Available

Transcripts for AHCTF1 Gene

Unigene Clusters for AHCTF1 Gene

AT hook containing transcription factor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AHCTF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b
SP1: - -
SP2: -
SP3:
SP4:
SP5:
SP6: -

Relevant External Links for AHCTF1 Gene

GeneLoc Exon Structure for
AHCTF1
ECgene alternative splicing isoforms for
AHCTF1

Expression for AHCTF1 Gene

mRNA expression in normal human tissues for AHCTF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AHCTF1 Gene

This gene is overexpressed in Platelet (21.2), Peripheral blood mononuclear cells (13.8), Testis (7.4), and CD8 Tcells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AHCTF1 Gene



SOURCE GeneReport for Unigene cluster for AHCTF1 Gene Hs.300887

genes like me logo Genes that share expression patterns with AHCTF1: view

Protein tissue co-expression partners for AHCTF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AHCTF1 Gene

Orthologs for AHCTF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AHCTF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AHCTF1 35
  • 97.94 (n)
  • 97.17 (a)
cow
(Bos Taurus)
Mammalia AHCTF1 36
  • 81 (a)
OneToOne
AHCTF1 35
  • 86.69 (n)
  • 81.34 (a)
dog
(Canis familiaris)
Mammalia AHCTF1 35
  • 80.3 (n)
  • 72.2 (a)
AHCTF1 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ahctf1 16
Ahctf1 35
  • 78.64 (n)
  • 72.07 (a)
Ahctf1 36
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AHCTF1 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AHCTF1 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ahctf1 35
  • 78.49 (n)
  • 71.49 (a)
chicken
(Gallus gallus)
Aves AHCTF1 35
  • 66.53 (n)
  • 60.23 (a)
AHCTF1 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AHCTF1 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ahctf1 35
  • 68.56 (n)
  • 67.07 (a)
zebrafish
(Danio rerio)
Actinopterygii ahctf1 36
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14215 36
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
OneToMany
-- 36
  • 24 (a)
OneToMany
Species with no ortholog for AHCTF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for AHCTF1 Gene

ENSEMBL:
Gene Tree for AHCTF1 (if available)
TreeFam:
Gene Tree for AHCTF1 (if available)

Paralogs for AHCTF1 Gene

Pseudogenes.org Pseudogenes for AHCTF1 Gene

genes like me logo Genes that share paralogs with AHCTF1: view

No data available for Paralogs for AHCTF1 Gene

Variants for AHCTF1 Gene

Sequence variations from dbSNP and Humsavar for AHCTF1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2642990 - 246,885,532(+) CATCG(C/T)TACCA nc-transcript-variant, reference, missense
rs12410563 - 246,842,749(+) TCCCA(A/C/G)AGTTT intron-variant, nc-transcript-variant, reference, missense
rs768197 -- 246,923,930(-) CCTCT(G/T)CTCAG intron-variant
rs967953 -- 246,894,866(-) CCTCC(A/C/G/T)TGAAG intron-variant
rs1039009 -- 246,917,156(+) GTAGC(A/C)GCACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AHCTF1 Gene

Variant ID Type Subtype PubMed ID
esv2667587 CNV Deletion 23128226
nsv873421 CNV Gain 21882294
nsv873422 CNV Gain 21882294
nsv509768 CNV Insertion 20534489
nsv873424 CNV Gain 21882294
nsv511751 CNV Loss 21212237
esv2446831 CNV Deletion 19546169
esv1940734 CNV Deletion 18987734
esv2857 CNV Deletion 18987735
esv2727607 CNV Deletion 23290073
esv2665105 CNV Deletion 23128226
nsv5276 CNV Loss 18451855
esv2727618 CNV Deletion 23290073
dgv561n71 CNV Gain 21882294
esv33129 CNV Gain+Loss 17666407

Variation tolerance for AHCTF1 Gene

Residual Variation Intolerance Score: 69.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.92; 59.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AHCTF1 Gene

HapMap Linkage Disequilibrium report
AHCTF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AHCTF1 Gene

Disorders for AHCTF1 Gene

Relevant External Links for AHCTF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AHCTF1

No disorders were found for AHCTF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AHCTF1 Gene

Publications for AHCTF1 Gene

  1. Identification of a novel transcription factor, ELYS, expressed predominantly in mouse foetal haematopoietic tissues. (PMID: 11952839) Kimura N. … Taga T. (Genes Cells 2002) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3
  5. Probing nuclear pore complex architecture with proximity-dependent biotinylation. (PMID: 24927568) Kim D.I. … Roux K.J. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3

Products for AHCTF1 Gene

Sources for AHCTF1 Gene

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