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0  structures 40  species 0  interactions 237  sequences 3  architectures

Family: NHS (PF15273)

Summary: NHS-like

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This is the Wikipedia entry entitled "NHS (gene)". More...

NHS (gene) Edit Wikipedia article

Nance-Horan syndrome (congenital cataracts and dental anomalies)
Identifiers
Symbols NHS; CXN; SCML1
External IDs OMIM300457 MGI2684894 HomoloGene18866 GeneCards: NHS Gene
Orthologs
Species Human Mouse
Entrez 4810 195727
Ensembl ENSG00000188158 ENSMUSG00000059493
UniProt Q6T4R5 B1AV60
RefSeq (mRNA) NM_001136024 NM_001081052
RefSeq (protein) NP_001129496 NP_001074521
Location (UCSC) Chr X:
17.39 – 17.75 Mb
Chr X:
161.83 – 162.16 Mb
PubMed search [1] [2]

Nance-Horan syndrome protein is a protein that in humans is encoded by the NHS gene.[1]

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein may function during the development of the eyes, teeth, and brain. Mutations in this gene have been shown to cause Nance-Horan syndrome. An alternative splice variant has been described, but its full-length nature has not been determined.[1]

[edit] References

[edit] Further reading

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.

NHS-like Provide feedback

This family of proteins includes Nance-Horan syndrome protein (NHS) [1].

Literature references

  1. Brooks SP, Ebenezer ND, Poopalasundaram S, Lehmann OJ, Moore AT, Hardcastle AJ;, J Med Genet. 2004;41:768-771.: Identification of the gene for Nance-Horan syndrome (NHS). PUBMED:15466011 EPMC:15466011


External database links

This tab holds annotation information from the InterPro database.

No InterPro data for this Pfam family.

Domain organisation

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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...

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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
(26)
Full
(237)
Representative proteomes NCBI
(185)
Meta
(0)
RP15
(4)
RP35
(14)
RP55
(43)
RP75
(110)
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1Cannot generate PP/Heatmap alignments for seeds; no PP data available

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

Format an alignment

  Seed
(26)
Full
(237)
Representative proteomes NCBI
(185)
Meta
(0)
RP15
(4)
RP35
(14)
RP55
(43)
RP75
(110)
Alignment:
Format:
Order:
Sequence:
Gaps:
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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
(26)
Full
(237)
Representative proteomes NCBI
(185)
Meta
(0)
RP15
(4)
RP35
(14)
RP55
(43)
RP75
(110)
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.

Pfam alignments:

HMM logo

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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:Q5SYE7
Previous IDs: none
Type: Family
Author: Eberhardt RY, Coggill P, Hetherington K
Number in seed: 26
Number in full: 237
Average length of the domain: 389.90 aa
Average identity of full alignment: 30 %
Average coverage of the sequence by the domain: 41.26 %

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 27.2 27.0
Noise cut-off 26.0 26.9
Model length: 670
Family (HMM) version: 1
Download: download the raw HMM for this family

Species distribution

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