Please note: this site relies heavily on the use of javascript. Without a javascript-enabled browser, this site will not function correctly. Please enable javascript and reload the page, or switch to a different browser.
0  structures 58  species 0  interactions 97  sequences 3  architectures

Family: STIL_N (PF15253)

Summary: SCL-interrupting locus protein N-terminus

Pfam includes annotations and additional family information from a range of different sources. These sources can be accessed via the tabs below.

This is the Wikipedia entry entitled "STIL". More...

STIL Edit Wikipedia article

SCL/TAL1 interrupting locus
Identifiers
Symbols STIL ; MCPH7; SIL
External IDs OMIM181590 MGI107477 HomoloGene2283 GeneCards: STIL Gene
RNA expression pattern
PBB GE STIL 205339 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6491 20460
Ensembl ENSG00000123473 ENSMUSG00000028718
UniProt Q15468 Q60988
RefSeq (mRNA) NM_001048166 NM_009185
RefSeq (protein) NP_001041631 NP_033211
Location (UCSC) Chr 1:
47.72 – 47.78 Mb
Chr 4:
115 – 115.04 Mb
PubMed search [1] [2]

SCL-interrupting locus protein is a protein that in humans is encoded by the STIL gene.[1][2]

This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene.[2]

Homozygous mutations in the STIL gene cause primary microcephaly (small brain) in humans.

References

  1. ^ Brown L, Cheng JT, Chen Q, Siciliano MJ, Crist W, Buchanan G, Baer R (Nov 1990). "Site-specific recombination of the tal-1 gene is a common occurrence in human T cell leukemia". EMBO J 9 (10): 3343–51. PMC 552072. PMID 2209547. 
  2. ^ a b "Entrez Gene: STIL SCL/TAL1 interrupting locus". 

Further reading

     Kumar A, Girimaji SC, Duvvari MR, Blanton SH (2009): Mutations in STIL,    
     encoding a pericentriolar and centrosomal protein, cause primary   
     microcephaly. American Journal of Human Genetics 84:286-290.



This page is based on a Wikipedia article. The text is available under the Creative Commons Attribution/Share-Alike License.

This tab holds the annotation information that is stored in the Pfam database. As we move to using Wikipedia as our main source of annotation, the contents of this tab will be gradually replaced by the Wikipedia tab.

SCL-interrupting locus protein N-terminus Provide feedback

No Pfam abstract.

External database links

This tab holds annotation information from the InterPro database.

No InterPro data for this Pfam family.

Domain organisation

Below is a listing of the unique domain organisations or architectures in which this domain is found. More...

Loading domain graphics...

Alignments

We store a range of different sequence alignments for families. As well as the seed alignment from which the family is built, we provide the full alignment, generated by searching the sequence database using the family HMM. We also generate alignments using four representative proteomes (RP) sets, the NCBI sequence database, and our metagenomics sequence database. More...

View options

We make a range of alignments for each Pfam-A family. You can see a description of each above. You can view these alignments in various ways but please note that some types of alignment are never generated while others may not be available for all families, most commonly because the alignments are too large to handle.

  Seed
(17)
Full
(97)
Representative proteomes NCBI
(91)
Meta
(0)
RP15
(17)
RP35
(20)
RP55
(34)
RP75
(54)
Jalview View  View  View  View  View  View  View   
HTML View  View  View  View  View  View     
PP/heatmap 1 View  View  View  View  View     
Pfam viewer View  View             

1Cannot generate PP/Heatmap alignments for seeds; no PP data available

Key: ✓ available, x not generated, not available.

Format an alignment

  Seed
(17)
Full
(97)
Representative proteomes NCBI
(91)
Meta
(0)
RP15
(17)
RP35
(20)
RP55
(34)
RP75
(54)
Alignment:
Format:
Order:
Sequence:
Gaps:
Download/view:

Download options

We make all of our alignments available in Stockholm format. You can download them here as raw, plain text files or as gzip-compressed files.

  Seed
(17)
Full
(97)
Representative proteomes NCBI
(91)
Meta
(0)
RP15
(17)
RP35
(20)
RP55
(34)
RP75
(54)
Raw Stockholm Download   Download   Download   Download   Download   Download   Download    
Gzipped Download   Download   Download   Download   Download   Download   Download    

You can also download a FASTA format file containing the full-length sequences for all sequences in the full alignment.

External links

MyHits provides a collection of tools to handle multiple sequence alignments. For example, one can refine a seed alignment (sequence addition or removal, re-alignment or manual edition) and then search databases for remote homologs using HMMER3.

HMM logo

HMM logos is one way of visualising profile HMMs. Logos provide a quick overview of the properties of an HMM in a graphical form. You can see a more detailed description of HMM logos and find out how you can interpret them here. More...

Trees

This page displays the phylogenetic tree for this family's seed alignment. We use FastTree to calculate neighbour join trees with a local bootstrap based on 100 resamples (shown next to the tree nodes). FastTree calculates approximately-maximum-likelihood phylogenetic trees from our seed alignment.

Note: You can also download the data file for the tree.

Curation and family details

This section shows the detailed information about the Pfam family. You can see the definitions of many of the terms in this section in the glossary and a fuller explanation of the scoring system that we use in the scores section of the help pages.

Curation View help on the curation process

This family is new in this Pfam release.

Seed source: Jackhmmer:Q15468
Previous IDs: none
Type: Family
Author: Eberhardt RY, Coggill P, Hetherington K
Number in seed: 17
Number in full: 97
Average length of the domain: 313.50 aa
Average identity of full alignment: 46 %
Average coverage of the sequence by the domain: 33.79 %

HMM information View help on HMM parameters

HMM build commands:
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 27.0 27.0
Trusted cut-off 28.1 27.4
Noise cut-off 21.9 21.1
Model length: 410
Family (HMM) version: 1
Download: download the raw HMM for this family

Species distribution

Sunburst controls

Show

This visualisation provides a simple graphical representation of the distribution of this family across species. You can find the original interactive tree in the adjacent tab. More...

Loading sunburst data...

Tree controls

Hide

The tree shows the occurrence of this domain across different species. More...

Loading...

Please note: for large trees this can take some time. While the tree is loading, you can safely switch away from this tab but if you browse away from the family page entirely, the tree will not be loaded.