Human Gene AHCTF1 (ENST00000326225.3) from GENCODE V38
  Description: Homo sapiens AT-hook containing transcription factor 1 (AHCTF1), transcript variant 1, mRNA. (from RefSeq NM_015446)
Gencode Transcript: ENST00000326225.3
Gencode Gene: ENSG00000153207.16
Transcript (Including UTRs)
   Position: hg38 chr1:246,839,098-246,931,424 Size: 92,327 Total Exon Count: 36 Strand: -
Coding Region
   Position: hg38 chr1:246,840,806-246,931,327 Size: 90,522 Coding Exon Count: 36 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:246,839,098-246,931,424)mRNA (may differ from genome)Protein (2275 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Protein ELYS; AltName: Full=Embryonic large molecule derived from yolk sac; AltName: Full=Protein MEL-28; AltName: Full=Putative AT-hook-containing transcription factor 1;
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.
SUBUNIT: Associates with the Nup107-160 subcomplex of the NPC.
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus matrix (By similarity). 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.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the ELYS family.
SIMILARITY: Contains 1 A.T hook DNA-binding domain.
SEQUENCE CAUTION: Sequence=AAN65622.1; Type=Frameshift; Positions=Several; Sequence=AAQ13621.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB78516.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.70 RPKM in Testis
Total median expression: 316.16 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.6097-0.377 Picture PostScript Text
3' UTR -375.301708-0.220 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017956 - AT_hook_DNA-bd_motif
IPR025151 - ELYS_dom

Pfam Domains:
PF13934 - Nuclear pore complex assembly

ModBase Predicted Comparative 3D Structure on Q8WYP5
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding

Biological Process:
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007049 cell cycle
GO:0015031 protein transport
GO:0032465 regulation of cytokinesis
GO:0051028 mRNA transport
GO:0051292 nuclear pore complex assembly
GO:0051301 cell division

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005643 nuclear pore
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016363 nuclear matrix
GO:0031965 nuclear membrane
GO:0034399 nuclear periphery
GO:0070062 extracellular exosome
GO:0000785 chromatin
GO:0031080 nuclear pore outer ring

-  Descriptions from all associated GenBank mRNAs
  BC012307 - Homo sapiens AT hook containing transcription factor 1, mRNA (cDNA clone IMAGE:3867738), partial cds.
AL832213 - Homo sapiens mRNA; cDNA DKFZp686P072 (from clone DKFZp686P072).
BC047361 - Homo sapiens AT hook containing transcription factor 1, mRNA (cDNA clone IMAGE:5278498).
AF173978 - Homo sapiens MSTP108 (MST108) mRNA, complete cds.
AY157619 - Homo sapiens ELYS transcription factor-like protein TMBS62 (TMBS62) mRNA, complete cds.
JD051506 - Sequence 32530 from Patent EP1572962.
AL080144 - Homo sapiens mRNA; cDNA DKFZp434N093 (from clone DKFZp434N093); partial cds.
AL833491 - Homo sapiens mRNA; cDNA DKFZp686I2429 (from clone DKFZp686I2429).
AB059277 - Homo sapiens mRNA for transcription factor ELYS, complete cds.
BC156054 - Synthetic construct Homo sapiens clone IMAGE:100062330, MGC:190464 AT hook containing transcription factor 1 (AHCTF1) mRNA, encodes complete protein.
AK091364 - Homo sapiens cDNA FLJ34045 fis, clone FCBBF2007095, highly similar to AT-hook-containing transcription factor 1.
AX746937 - Sequence 462 from Patent EP1308459.
BC030564 - Homo sapiens AT hook containing transcription factor 1, mRNA (cDNA clone IMAGE:4446957).
AK095398 - Homo sapiens cDNA FLJ38079 fis, clone CTONG2016056, highly similar to AT-hook-containing transcription factor 1.
AK091510 - Homo sapiens cDNA FLJ34191 fis, clone FCBBF3017918.
AX747030 - Sequence 555 from Patent EP1308459.
AK122844 - Homo sapiens cDNA FLJ16456 fis, clone BRAWH3009013, highly similar to AT-hook-containing transcription factor 1.
LF205488 - JP 2014500723-A/12991: Polycomb-Associated Non-Coding RNAs.
MA441065 - JP 2018138019-A/12991: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WYP5 (Reactome details) participates in the following event(s):

R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A6NGM0, A8MSG9, A8MZ86, ELYS, ELYS_HUMAN, ENST00000326225.1, ENST00000326225.2, MSTP108, NM_015446, Q7Z4E3, Q8IZA4, Q8WYP5, Q96EH9, Q9Y4Q6, TMBS62, uc001ibv.1, uc001ibv.2, uc001ibv.3
UCSC ID: ENST00000326225.3
RefSeq Accession: NM_015446
Protein: Q8WYP5 (aka ELYS_HUMAN)
CCDS: CCDS1629.2

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.