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0  structures 964  species 0  interactions 2046  sequences 30  architectures

Family: LicD (PF04991)

Summary: LicD family

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 "Fukutin". More...

Fukutin Edit Wikipedia article

Aliases FKTN, CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4, fukutin
External IDs OMIM: 607440 MGI: 2179507 HomoloGene: 31402 GeneCards: FKTN
Species Human Mouse
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC) Chr 9: 105.56 – 105.64 Mb Chr 4: 53.71 – 53.77 Mb
PubMed search [1] [2]
View/Edit Human View/Edit Mouse
Symbol Fukutin-related
Pfam PF04991
InterPro IPR009644

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.[3] In humans this protein is encoded by the FCMD gene (also named FKTN), located on chromosome 9q31.[4][5][6] 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.[7] 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.[5]

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).[5][8]

See also


  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b c "Entrez Gene: fukutin". 
  6. ^ Online Mendelian Inheritance in Man (OMIM) 607440
  7. ^ 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. 
  8. ^ 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. 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

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Pfam Clan

This family is a member of clan NTP_transf (CL0260), which has the following description:

This clan contains a diverse set of nucleotidyltransferase enzymes.

The clan contains the following 26 members:

AbiEii Adenyl_cycl_N Adenyl_transf Aminoglyc_resit DNA_pol3_alpha DNA_pol_B_palm DUF2204 DUF294 DZF GlnE GrpB LicD MdcG Mmp37 Nrap Nrap_D4 NTP_transf_2 NTP_transf_5 NTP_transf_6 NTP_transf_7 NTP_transf_8 Nuc-transf PolyA_pol Pox_polyA_pol RelA_SpoT RsfS


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Curation and family details

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Curation View help on the curation process

Seed source: Pfam-B_5278 (release 7.6)
Previous IDs: none
Type: Domain
Author: Moxon SJ, Bateman A
Number in seed: 44
Number in full: 2046
Average length of the domain: 142.00 aa
Average identity of full alignment: 19 %
Average coverage of the sequence by the domain: 41.97 %

HMM information View help on HMM parameters

HMM build commands:
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 26740544 -E 1000 --cpu 4 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 22.6 22.6
Trusted cut-off 22.7 22.6
Noise cut-off 22.5 22.5
Model length: 227
Family (HMM) version: 12
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Species distribution

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Archea Archea Eukaryota Eukaryota
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