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0  structures 107  species 0  interactions 122  sequences 2  architectures

Family: HYLS1_C (PF15311)

Summary: Hydrolethalus syndrome protein 1 C-terminus

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This is the Wikipedia entry entitled "HYLS1". More...

HYLS1 Edit Wikipedia article

Hydrolethalus syndrome 1
Symbols HYLS1 ; HLS
External IDs OMIM610693 HomoloGene82283 GeneCards: HYLS1 Gene
Species Human Mouse
Entrez 219844 76832
Ensembl ENSG00000198331 ENSMUSG00000050555
UniProt Q96M11 Q9CXX0
RefSeq (mRNA) NM_001134793 NM_029762
RefSeq (protein) NP_001128265 NP_084038
Location (UCSC) Chr 11:
125.75 – 125.77 Mb
Chr 9:
35.56 – 35.57 Mb
PubMed search [1] [2]

Hydrolethalus syndrome protein 1 is a protein that in humans is encoded by the HYLS1 gene.[1][2]


Hyls1 is incorporated into centrioles as they are formed but is not required for centriole assembly. However Hyls1 is required for the formation of cilia.[3]

Clinical significance

Mutations in this gene are associated with hydrolethalus syndrome.[2]


  1. ^ "Entrez Gene: hydrolethalus syndrome 1". 
  2. ^ a b Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L (June 2005). "Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1". Hum. Mol. Genet. 14 (11): 1475–88. doi:10.1093/hmg/ddi157. PMID 15843405. 
  3. ^ Dammermann A, Pemble H, Mitchell BJ, McLeod I, Yates JR, Kintner C, Desai AB, Oegema K (September 2009). "The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation". Genes Dev. 23 (17): 2046–59. doi:10.1101/gad.1810409. PMC 2751977. PMID 19656802. 

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.

Hydrolethalus syndrome protein 1 C-terminus Provide feedback

No Pfam abstract.

Literature references

  1. Mee L, Honkala H, Kopra O, Vesa J, Finnila S, Visapaa I, Sang TK, Jackson GR, Salonen R, Kestila M, Peltonen L;, Hum Mol Genet. 2005;14:1475-1488.: Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. PUBMED:15843405 EPMC:15843405

Internal database links

External database links

This tab holds annotation information from the InterPro database.

InterPro entry IPR027918

This entry represents the C-terminal domain of hydrolethalus syndrome protein 1 (HYLS1). The HYLS1 gene shows alternative splicing and the transcript is found in multiple tissues during foetal development [PUBMED:15843405].

Domain organisation

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Seed source: Jackhmmer:Q96M11
Previous IDs: none
Type: Family
Author: Eberhardt RY, Coggill P, Hetherington K
Number in seed: 20
Number in full: 122
Average length of the domain: 78.40 aa
Average identity of full alignment: 41 %
Average coverage of the sequence by the domain: 27.31 %

HMM information View help on HMM parameters

HMM build commands:
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 80369284 -E 1000 --cpu 4 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 27.0 27.0
Trusted cut-off 27.1 27.1
Noise cut-off 26.1 25.4
Model length: 90
Family (HMM) version: 2
Download: download the raw HMM for this family

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