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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
  • 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 Cell Cycle, Mitotic and Mitotic Prometaphase. 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

Additional gene information for AHCTF1 Gene

No data available for Entrez Gene Summary , CIViC 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
GH01H246564 1.7 FANTOM5 ENCODE dbSUPER 32.7 +362.4 362416 9 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF670-ZNF695 ZNF669 AHCTF1 CNST ZNF496 ZNF124 ENSG00000227671 SMYD3 LINC01341 ENSG00000225300
GH01H246961 1.2 FANTOM5 Ensembl ENCODE 35.7 -30.2 -30168 1 POLR2A NR2F1 MAX JUNB BATF GABPA AHCTF1 NLRP3 ZNF695
GH01H247077 1.1 ENCODE 35.7 -146.8 -146752 3 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 CBX5 ZNF143 ZNF669 AHCTF1 ZNF670-ZNF695 ZNF124 ZNF496 ZNF695 ZNF670 LOC100420880
GH01H246959 1.3 FANTOM5 Ensembl ENCODE 28.8 -28.2 -28217 1 BCOR HDAC1 CTCF ATF1 BACH1 CEBPG RAD21 ZNF316 NFE2 ATF7 AHCTF1 ZNF669 KIF28P LINC01341 ZNF496 NLRP3 ZNF695
GH01H247330 1.3 ENCODE dbSUPER 24.5 -400.0 -399974 3 HDGF PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 YY1 ETS1 ZNF766 ZNF496 ZNF669 AHCTF1 ZNF670-ZNF695 ZNF124 ENSG00000202079
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000023173 378 2401 HDGF ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 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 posLast=4242, posLast=505505, Lys717, Lys969, Lys1002, posLast=10691069, and posLast=11411141
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AHCTF1 Gene

Domains & Families for AHCTF1 Gene

Gene Families for AHCTF1 Gene

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

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).
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

CRISPR Products

miRNA for AHCTF1 Gene

miRTarBase miRNAs that target AHCTF1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AHCTF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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. Nucleus envelope. 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. {ECO:0000269 PubMed:17098863}.

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 AHCTF1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
See all subcellular structures

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:0005635 nuclear envelope IEA --
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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AHCTF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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

Evidence on tissue expression from TISSUES for AHCTF1 Gene

  • Heart(4.3)
  • Liver(4.3)
  • Blood(4.1)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with AHCTF1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 97.94 (n)
cow
(Bos Taurus)
Mammalia AHCTF1 33 34
  • 86.69 (n)
dog
(Canis familiaris)
Mammalia AHCTF1 33 34
  • 80.3 (n)
mouse
(Mus musculus)
Mammalia Ahctf1 33 16 34
  • 78.64 (n)
rat
(Rattus norvegicus)
Mammalia Ahctf1 33
  • 78.49 (n)
oppossum
(Monodelphis domestica)
Mammalia AHCTF1 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AHCTF1 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves AHCTF1 33 34
  • 66.53 (n)
lizard
(Anolis carolinensis)
Reptilia AHCTF1 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ahctf1 33
  • 68.56 (n)
zebrafish
(Danio rerio)
Actinopterygii ahctf1 34
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14215 34
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
OneToMany
-- 34
  • 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
rs1000015874 -- 246,880,063(+) TTGTT(C/G)ACATT intron-variant
rs1000017913 -- 246,897,131(+) CAACA(A/T)GGTGT intron-variant
rs1000079508 -- 246,843,685(+) ATAAT(-/AAAC)AAAAT intron-variant
rs1000107451 -- 246,874,539(+) GGTGG(A/T)CATGA intron-variant
rs1000123882 -- 246,883,803(+) TTTTT(C/G)CAACT intron-variant

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 to cells : devoted to molecular & cellular mechanisms 2002) 2 3 4 60
  2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 60
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  4. ELYS is a dual nucleoporin/kinetochore protein required for nuclear pore assembly and proper cell division. (PMID: 17098863) Rasala BA … Forbes DJ (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 60
  5. 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 60

Products for AHCTF1 Gene

Sources for AHCTF1 Gene

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