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
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ELYS_HUMAN
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
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-  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     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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.