Aliases for AHCTF1 Gene

Aliases for AHCTF1 Gene

  • AT-Hook Containing Transcription Factor 1 2 3 5
  • ELYS 2 3 4
  • Putative AT-Hook-Containing Transcription Factor 1 3 4
  • Embryonic Large Molecule Derived From Yolk Sac 3 4
  • Protein ELYS 3 4
  • TMBS62 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
  • MSTP108 3
  • MST108 3
  • AHCTF1 5

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. Diseases associated with AHCTF1 include Autoimmune Lymphoproliferative Syndrome and Strabismus. Among its related pathways are Gastric Cancer Network 2 and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for AHCTF1 Gene

Genomics for AHCTF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AHCTF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AHCTF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AHCTF1

Top Transcription factor binding sites by QIAGEN in the AHCTF1 gene promoter:
  • AML1a
  • AP-4
  • Egr-2
  • HNF-1A
  • HSF2
  • NF-kappaB
  • NF-kappaB1
  • POU3F2
  • RelA
  • XBP-1

Genomic Locations for AHCTF1 Gene

Genomic Locations for AHCTF1 Gene
chr1:246,839,098-246,931,948
(GRCh38/hg38)
Size:
92,851 bases
Orientation:
Minus strand
chr1:247,002,400-247,095,280
(GRCh37/hg19)
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; Evidence={ECO:0000305}; Sequence=AAQ13621.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB78516.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 Lys42, Lys505, Lys717, Lys969, Lys1002, Lys1069, Lys1141, and Lys1158
  • 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

Protein Domains for AHCTF1 Gene

Suggested Antigen Peptide Sequences for AHCTF1 Gene

GenScript: Design optimal peptide antigens:
  • Putative AT-hook-containing transcription factor 1 (ELYS_HUMAN)

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.

Phenotypes From GWAS Catalog for AHCTF1 Gene

Gene Ontology (GO) - Molecular Function for AHCTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AHCTF1

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. 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
nucleus 5
cytosol 5
extracellular 4
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

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:0000775 chromosome, centromeric region IEA --
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
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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007049 cell cycle IEA --
GO:0015031 protein transport IEA --
GO:0032465 regulation of cytokinesis 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

mRNA/cDNA for AHCTF1 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AHCTF1

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AHCTF1

SOURCE GeneReport for Unigene cluster for AHCTF1 Gene:

Hs.300887

Evidence on tissue expression from TISSUES for AHCTF1 Gene

  • Heart(4.4)
  • Liver(4.4)
  • Blood(4.3)
  • Nervous system(2.8)
  • Skin(2.3)
  • Muscle(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with AHCTF1: view

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 30
  • 97.94 (n)
Cow
(Bos Taurus)
Mammalia AHCTF1 30 31
  • 86.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AHCTF1 30 31
  • 80.3 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ahctf1 30 17 31
  • 78.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ahctf1 30
  • 78.49 (n)
Oppossum
(Monodelphis domestica)
Mammalia AHCTF1 31
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AHCTF1 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AHCTF1 30 31
  • 66.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AHCTF1 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ahctf1 30
  • 68.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii ahctf1 31
  • 37 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG14215 31
  • 18 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 26 (a)
OneToMany
-- 31
  • 24 (a)
OneToMany
Species where no ortholog for AHCTF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AHCTF1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AHCTF1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1558223606 Uncertain Significance: Strabismus; Delayed speech and language development; Intellectual disability 246,862,021(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
rs12410563 - p.Leu2185Val
rs2642990 - p.Asn874Ser

Additional dbSNP identifiers (rs#s) for AHCTF1 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(2) MalaCards diseases for AHCTF1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autoimmune lymphoproliferative syndrome
  • css
strabismus
  • strabismus, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with AHCTF1: view

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

Publications for AHCTF1 Gene

  1. 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) 2 3 4
  2. 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
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  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

Products for AHCTF1 Gene

  • Biorbyt antibodies for AHCTF1

Sources for AHCTF1 Gene