Free for academic non-profit institutions. Other users need a Commercial license

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
  • TMBS62 3 4
  • ELYS 3 4
  • ELYS Transcription Factor Like Protein TMBS62 2
  • ELYS Transcription Factor-Like Protein TMBS62 3
  • AT Hook Containing Transcription Factor 1 2
  • Protein MEL-28 4
  • Protein ELYS 3
  • 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 Mitotic Metaphase and Anaphase and Cell Cycle, Mitotic. 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

Enhancers for AHCTF1 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
GH01F246961 1.6 FANTOM5 Ensembl ENCODE 35.7 -30.2 -30168 1.5 PKNOX1 HLF MAX JUNB AHCTF1 NLRP3 ZNF695
GH01F246959 1.3 FANTOM5 Ensembl ENCODE 28.7 -28.3 -28323 1.8 CTCF BCOR HDAC1 ATF1 CREB3L1 ZMYM3 BACH1 RAD21 ZNF316 NFE2 AHCTF1 ZNF669 KIF28P LINC01341 ZNF496 NLRP3 ZNF695
GH01F246858 0.6 ENCODE 17.1 +72.5 72473 2.7 ZNF316 CEBPB ZBTB33 EMSY MAFK AHCTF1 LINC01341 KIF28P
GH01F246947 0.8 Ensembl ENCODE 13.8 -16.0 -16035 1.7 ATF1 PKNOX1 ARNT MLX CREB3L1 SIN3A ARID4B DMAP1 ZNF48 YY1 AHCTF1 ZNF669 ZNF695
GH01F246871 0.9 FANTOM5 13.8 +60.0 59962 0.4 AHCTF1 KIF28P LINC01341 CNST ZNF669
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AHCTF1 on UCSC Golden Path with GeneCards custom track

Promoters for AHCTF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000556583 578 3200 HDGF CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 CBX5 ZNF207

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

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

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.

Gene Ontology (GO) - Molecular Function for AHCTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with AHCTF1: view
genes like me logo Genes that share phenotypes with AHCTF1: view

Animal Models for AHCTF1 Gene

MGI Knock Outs for AHCTF1:

Animal Model Products

miRNA for AHCTF1 Gene

miRTarBase miRNAs that target AHCTF1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0000776 kinetochore IEA --
GO:0000777 colocalizes_with condensed chromosome kinetochore IEA,IDA 17098863
GO:0000785 colocalizes_with chromatin IDA 17098863
GO:0005634 nucleus IEA,IDA 17098863
GO:0005643 colocalizes_with nuclear pore IEA,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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006810 transport IEA --
GO:0007049 cell cycle IEA --
GO:0007062 sister chromatid cohesion TAS --
genes like me logo Genes that share ontologies with AHCTF1: view

No data available for SIGNOR curated interactions for AHCTF1 Gene

Transcripts for AHCTF1 Gene

Unigene Clusters for AHCTF1 Gene

AT hook containing transcription factor 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for AHCTF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AHCTF1 Gene:

AHCTF1

SOURCE GeneReport for Unigene cluster for AHCTF1 Gene:

Hs.300887
genes like me logo Genes that share expression patterns with AHCTF1: view

Primer 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 34
  • 97.94 (n)
cow
(Bos Taurus)
Mammalia AHCTF1 34 35
  • 86.69 (n)
dog
(Canis familiaris)
Mammalia AHCTF1 34 35
  • 80.3 (n)
mouse
(Mus musculus)
Mammalia Ahctf1 34 16 35
  • 78.64 (n)
rat
(Rattus norvegicus)
Mammalia Ahctf1 34
  • 78.49 (n)
oppossum
(Monodelphis domestica)
Mammalia AHCTF1 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AHCTF1 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves AHCTF1 34 35
  • 66.53 (n)
lizard
(Anolis carolinensis)
Reptilia AHCTF1 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ahctf1 34
  • 68.56 (n)
zebrafish
(Danio rerio)
Actinopterygii ahctf1 35
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14215 35
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
OneToMany
-- 35
  • 24 (a)
OneToMany
Species where no ortholog for AHCTF1 was found in the sources mined by GeneCards:
  • 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
rs10157601 -- 246,898,853(+) gaggc(C/T)gaggc intron-variant
rs1039009 -- 246,917,156(+) GTAGC(A/C)GCACT intron-variant
rs1039010 -- 246,918,081(+) ATAAC(A/G)TGTTT intron-variant
rs10436931 -- 246,893,105(+) AAAGA(A/G)TAACA intron-variant
rs1047080 -- 246,840,729(-) TTTGG(A/G)AGAAA nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv22e215 CNV deletion 23714750
dgv318n106 CNV deletion 24896259
esv1940734 CNV deletion 18987734
esv2446831 CNV deletion 19546169
esv2665105 CNV deletion 23128226
esv2667587 CNV deletion 23128226
esv2727607 CNV deletion 23290073
esv2727618 CNV deletion 23290073
esv2762192 CNV gain 21179565
esv2857 CNV loss 18987735
esv33129 CNV gain+loss 17666407
esv3578536 CNV loss 25503493
esv3589493 CNV gain 21293372
esv3589495 CNV loss 21293372
esv3589496 CNV loss 21293372
esv3589497 CNV loss 21293372
esv3589498 CNV loss 21293372
nsv1068998 CNV deletion 25765185
nsv509768 CNV insertion 20534489
nsv511751 CNV loss 21212237
nsv5276 CNV deletion 18451855
nsv945432 CNV duplication 23825009
nsv945433 CNV duplication 23825009
nsv945435 CNV duplication 23825009

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  4. ELYS is a dual nucleoporin/kinetochore protein required for nuclear pore assembly and proper cell division. (PMID: 17098863) Rasala B.A. … Forbes D.J. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for AHCTF1 Gene

Sources for AHCTF1 Gene

Content
Loading form....