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32  structures 1576  species 0  interactions 3850  sequences 62  architectures

Family: LicD (PF04991)

Summary: LicD family

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

Fukutin Edit Wikipedia article

External IDsOMIM: 607440 MGI: 2179507 HomoloGene: 31402 GeneCards: FKTN
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for FKTN
Genomic location for FKTN
Band9q31.2Start105,558,130 bp[1]
End105,641,118 bp[1]
RefSeq (mRNA)


RefSeq (protein)


Location (UCSC)Chr 9: 105.56 – 105.64 MbChr 4: 53.71 – 53.78 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

Fukutin is a eukaryotic protein necessary for the maintenance of muscle integrity, cortical histogenesis, and normal ocular development. Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy (FCMD) characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan.[5] In humans this protein is encoded by the FCMD gene (also named FKTN), located on chromosome 9q31.[6][7][8] Human fukutin exhibits a length of 461 amino acids and a predicted molecular mass of 53.7 kDa.


Although its function is mostly unknown, fukutin is a putative transmembrane protein that is ubiquitously expressed, although at higher levels in skeletal muscle, heart and brain.[9] It is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of α-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development.[7]

Clinical significance

Defects in this gene are a cause of Fukuyama congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X).[7][10]

See also


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106692 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028414 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Kobayashi K, Shimizu T, Arai K, Nakamura Y, Fukui T, Toda T, Matsumura K, Imamura M, Takeda S, Kondo M, Sasaki J, Kurahashi H, Kano H, Misaki K, Tachikawa M, Murakami T, Sunada Y, Fujikado T, Terashima T (2003). "Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development". Hum. Mol. Genet. 12 (12): 1449–1459. doi:10.1093/hmg/ddg153. PMID 12783852.
  6. ^ Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki M (November 1993). "Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33". Nat. Genet. 5 (3): 283–6. doi:10.1038/ng1193-283. PMID 8275093.
  7. ^ a b c "Entrez Gene: fukutin".
  8. ^ Online Mendelian Inheritance in Man (OMIM) 607440
  9. ^ Hayashi YK, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, Arahata K (July 2001). "Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy". Neurology. 57 (1): 115–21. doi:10.1212/wnl.57.1.115. PMID 11445638.
  10. ^ Murakami T, Hayashi YK, Noguchi S, et al. (November 2006). "Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness". Ann. Neurol. 60 (5): 597–602. CiteSeerX doi:10.1002/ana.20973. PMID 17036286.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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.

LicD family Provide feedback

The LICD family of proteins show high sequence similarity and are involved in phosphorylcholine metabolism. There is evidence to show that LicD2 mutants have a reduced ability to take up choline, have decreased ability to adhere to host cells and are less virulent [1]. These proteins are part of the nucleotidyltransferase superfamily [2].

Literature references

  1. Zhang JR, Idanpaan-Heikkila I, Fischer W, Tuomanen EI; , Mol Microbiol 1999;31:1477-1488.: Pneumococcal licD2 gene is involved in phosphorylcholine metabolism. PUBMED:10200966 EPMC:10200966

  2. Kuchta K, Knizewski L, Wyrwicz LS, Rychlewski L, Ginalski K;, Nucleic Acids Res. 2009; [Epub ahead of print]: Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in human. PUBMED:19833706 EPMC:19833706

This tab holds annotation information from the InterPro database.

InterPro entry IPR007074

The LicD family of proteins show high sequence similarity and are involved in phosphorylcholine metabolism. There is evidence to show that LicD2 mutants have a reduced ability to take up choline, have decreased ability to adhere to host cells and are less virulent [ PUBMED:10200966 ]. These proteins are part of the nucleotidyltransferase superfamily [ PUBMED:19833706 ].

Fukutin, which is a member of the LicD family, is a human protein which may be involved in the modification of glycan moieties of alpha-dystroglycan; defects in Fukutin are associated with congential muscular dystrophy [ PUBMED:11445638 ].

Domain organisation

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

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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 (reference proteomes) using the family HMM. We also generate alignments using four representative proteomes (RP) sets and the UniProtKB 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.

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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.

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

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...


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

Seed source: Pfam-B_5278 (release 7.6)
Previous IDs: none
Type: Domain
Sequence Ontology: SO:0000417
Author: Moxon SJ , Bateman A
Number in seed: 34
Number in full: 3850
Average length of the domain: 128.90 aa
Average identity of full alignment: 19 %
Average coverage of the sequence by the domain: 37.33 %

HMM information View help on HMM parameters

HMM build commands:
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 57096847 -E 1000 --cpu 4 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 22.6 22.6
Trusted cut-off 22.6 22.6
Noise cut-off 22.5 22.5
Model length: 228
Family (HMM) version: 15
Download: download the raw HMM for this family

Species distribution

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Colour assignments

Archea Archea Eukaryota Eukaryota
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Viruses Viruses Unclassified Unclassified
Viroids Viroids Unclassified sequence Unclassified sequence


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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...

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For those sequences which have a structure in the Protein DataBank, we use the mapping between UniProt, PDB and Pfam coordinate systems from the PDBe group, to allow us to map Pfam domains onto UniProt sequences and three-dimensional protein structures. The table below shows the structures on which the LicD domain has been found. There are 32 instances of this domain found in the PDB. Note that there may be multiple copies of the domain in a single PDB structure, since many structures contain multiple copies of the same protein sequence.

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trRosetta Structure

The structural model below was generated by the Baker group with the trRosetta software using the Pfam UniProt multiple sequence alignment.

The InterPro website shows the contact map for the Pfam SEED alignment. Hovering or clicking on a contact position will highlight its connection to other residues in the alignment, as well as on the 3D structure.

Improved protein structure prediction using predicted inter-residue orientations. Jianyi Yang, Ivan Anishchenko, Hahnbeom Park, Zhenling Peng, Sergey Ovchinnikov, David Baker Proceedings of the National Academy of Sciences Jan 2020, 117 (3) 1496-1503; DOI: 10.1073/pnas.1914677117;