Q9H9S5 (FKRP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Fukutin-related protein
EC=2.-.-.-

Gene names

Name:

FKRP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	495 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1).
Subunit structure	May interact with the dystrophin-glycoprotein complex (DGC) By similarity. Homodimer; disulfide-linked. Exists also as large multimeric protein complexes. Ref.9
Subcellular location	Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Cell membrane › sarcolemma By similarity. Rough endoplasmic reticulum. Note: According to some studies the N-terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted. Localization at the cell membrane may require the presence of dystroglycan. At the Golgi apparatus localizes to the middle-to-trans-cisternae, as assessed by MG160 colocalization. Detected in rough endoplasmic reticulum in myocytes. In general, mutants associated with severe clinical phenotypes are retained within the endoplasmic reticulum. Ref.6 Ref.7 Ref.8 Ref.9
Tissue specificity	Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver kidney and pancreas.
Post-translational modification	N-glycosylated. Ref.8 Ref.9
Involvement in disease	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15 Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]: A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.11 Ref.13 Ref.16 Ref.17 Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]: An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11 Ref.12 Ref.14
Sequence similarities	Belongs to the LicD transferase family.

Ontologies

Keywords
Cellular component	Cell membrane Endoplasmic reticulum Golgi apparatus Membrane Secreted
Disease	Cardiomyopathy Congenital muscular dystrophy Disease mutation Limb-girdle muscular dystrophy Lissencephaly
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Transferase
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glycoprotein biosynthetic process Inferred from electronic annotation. Source: Compara protein processing Inferred from electronic annotation. Source: Compara
Cellular_component	Golgi apparatus Inferred from direct assay Ref.8. Source: UniProtKB Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell dystrophin-associated glycoprotein complex Inferred from electronic annotation. Source: Compara extracellular space Inferred from direct assay Ref.8. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW rough endoplasmic reticulum Inferred from direct assay Ref.6. Source: UniProtKB sarcolemma Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	transferase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 495	495	Fukutin-related protein		PRO_0000204723
Regions
	Topological domain	1 – 6	6	Cytoplasmic Potential
	Transmembrane	7 – 29	23	Helical; Potential
	Topological domain	30 – 495	466	Lumenal Potential
Amino acid modifications
	Glycosylation	172	1	N-linked (GlcNAc...) Ref.9
	Glycosylation	209	1	N-linked (GlcNAc...) Ref.9
	Disulfide bond	6		Interchain Ref.9
Natural variations
	Natural variant	54	1	R → W in MDDGC5. Ref.14 Corresponds to variant rs28937905 [ dbSNP | Ensembl ].		VAR_019272
	Natural variant	79	1	V → M in MDDGC5. Ref.12		VAR_065055
	Natural variant	114	1	A → G in MDDGB5; unknown pathological significance. Ref.1		VAR_018280
	Natural variant	134	1	R → W in MDDGC5. Ref.12		VAR_065056
	Natural variant	143 – 146	4	Missing in MDDGC5.		VAR_018281
	Natural variant	143	1	R → S in MDDGC5. Ref.10		VAR_018282
	Natural variant	160	1	V → F in MDDGC5. Ref.12		VAR_065057
	Natural variant	182	1	Y → C in MDDGC5. Ref.12		VAR_065058
	Natural variant	217	1	P → T in MDDGB5. Ref.1		VAR_018283
	Natural variant	221	1	S → R in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. Ref.13 Corresponds to variant rs28937902 [ dbSNP | Ensembl ].		VAR_018284
	Natural variant	276	1	L → I in MDDGC5; reduced secretion to the medium; localizes mainly to the Golgi apparatus. Ref.7 Ref.8 Ref.10 Ref.11 Ref.12 Corresponds to variant rs28937900 [ dbSNP | Ensembl ].		VAR_018285
	Natural variant	293	1	T → I in MDDGC5. Ref.12		VAR_065059
	Natural variant	300	1	V → A in MDDGC5. Ref.12		VAR_065060
	Natural variant	300	1	V → M in MDDGC5. Ref.12		VAR_065061
	Natural variant	307	1	Y → N in MDDGC5 and MDDGA5; muscle-eye-brain disease. Ref.11 Ref.15		VAR_022850
	Natural variant	309	1	Y → C in MDDGB5. Ref.1 Ref.11		VAR_018286
	Natural variant	312	1	R → C in MDDGC5. Ref.10		VAR_018287
	Natural variant	315	1	P → T in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. Ref.13		VAR_018288
	Natural variant	316	1	P → R in MDDGB5 and MDDGC5. Ref.1 Ref.10		VAR_018289
	Natural variant	316	1	P → S in MDDGC5. Ref.11		VAR_022851
	Natural variant	318	1	C → Y in MDDGA5; severe Walker-Warburg syndrome. Ref.15		VAR_022852
	Natural variant	328	1	Y → S in MDDGB5. Ref.1		VAR_018290
	Natural variant	339	1	R → H in MDDGB5. Ref.1 Ref.11		VAR_018292
	Natural variant	339	1	R → L in MDDGC5. Ref.10		VAR_018291
	Natural variant	358	1	P → L in MDDGC5. Ref.12		VAR_065062
	Natural variant	360	1	D → N in MDDGC5. Ref.11		VAR_022853
	Natural variant	401	1	D → N in MDDGB5. Ref.1		VAR_018293
	Natural variant	405	1	V → L in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. Ref.16 Corresponds to variant rs28937904 [ dbSNP | Ensembl ].		VAR_022854
	Natural variant	448	1	P → L in MDDGB5; strongly reduced secretion to the medium; localizes mainly to the ER compartment. Ref.1 Ref.7 Ref.8 Ref.11		VAR_018294
	Natural variant	455	1	A → D in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. Ref.16 Corresponds to variant rs28937903 [ dbSNP | Ensembl ].		VAR_022855
	Natural variant	462	1	P → S in MDDGC5. Ref.11		VAR_022856
	Natural variant	463	1	N → D in MDDGB5. Ref.17		VAR_065063
	Natural variant	465	1	Y → S in MDDGB5. Ref.1		VAR_018295

Sequences

	Sequence		Length	Mass (Da)
	Q9H9S5 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 8D47756C28C6F578	FASTA	495	54,568
	10 20 30 40 50 60 MRLTRCQAAL AAAITLNLLV LFYVSWLQHQ PRNSRARGPR RASAAGPRVT VLVREFEAFD 70 80 90 100 110 120 NAVPELVDSF LQQDPAQPVV VAADTLPYPP LALPRIPNVR LALLQPALDR PAAASRPETY 130 140 150 160 170 180 VATEFVALVP DGARAEAPGL LERMVEALRA GSARLVAAPV ATANPARCLA LNVSLREWTA 190 200 210 220 230 240 RYGAAPAAPR CDALDGDAVV LLRARDLFNL SAPLARPVGT SLFLQTALRG WAVQLLDLTF 250 260 270 280 290 300 AAARQPPLAT AHARWKAERE GRARRAALLR ALGIRLVSWE GGRLEWFGCN KETTRCFGTV 310 320 330 340 350 360 VGDTPAYLYE ERWTPPCCLR ALRETARYVV GVLEAAGVRY WLEGGSLLGA ARHGDIIPWD 370 380 390 400 410 420 YDVDLGIYLE DVGNCEQLRG AEAGSVVDER GFVWEKAVEG DFFRVQYSES NHLHVDLWPF 430 440 450 460 470 480 YPRNGVMTKD TWLDHRQDVE FPEHFLQPLV PLPFAGFVAQ APNNYRRFLE LKFGPGVIEN 490 PQYPNPALLS LTGSG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan." Brockington M., Blake D.J., Prandini P., Brown S.C., Torelli S., Benson M.A., Ponting C.P., Estournet B., Romero N.B., Mercuri E., Voit T., Sewry C.A., Guicheney P., Muntoni F. Am. J. Hum. Genet. 69:1198-1209(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS MDDGB5 GLY-114; THR-217; CYS-309; ARG-316; SER-328; HIS-339; ASN-401; LEU-448 AND SER-465. Tissue: Brain.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[3]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[6]	"Subcellular localization of fukutin and fukutin-related protein in muscle cells." Matsumoto H., Noguchi S., Sugie K., Ogawa M., Murayama K., Hayashi Y.K., Nishino I. J. Biochem. 135:709-712(2004) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[7]	"Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo." Keramaris-Vrantsis E., Lu P.J., Doran T., Zillmer A., Ashar J., Esapa C.T., Benson M.A., Blake D.J., Rosenfeld J., Lu Q.L. Muscle Nerve 36:455-465(2007) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS ILE-276 AND LEU-448.
[8]	"Mutations alter secretion of fukutin-related protein." Lu P.J., Zillmer A., Wu X., Lochmuller H., Vachris J., Blake D., Chan Y.M., Lu Q.L. Biochim. Biophys. Acta 1802:253-258(2010) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, CHARACTERIZATION OF VARIANTS ILE-276 AND LEU-448.
[9]	"Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-Terminal interaction." Alhamidi M., Kjeldsen Buvang E., Fagerheim T., Brox V., Lindal S., Van Ghelue M., Nilssen O. PLoS ONE 6:E22968-E22968(2011) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-172 AND ASN-209, SUBUNIT, DISULFIDE BOND.
[10]	"Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C." Brockington M., Yuva Y., Prandini P., Brown S.C., Torelli S., Benson M.A., Herrmann R., Anderson L.V.B., Bashir R., Burgunder J.-M., Fallet S., Romero N., Fardeau M., Straub V., Storey G., Pollitt C., Richard I., Sewry C.A. , Bushby K., Voit T., Blake D.J., Muntoni F. Hum. Mol. Genet. 10:2851-2859(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MDDGC5 143-ARG--GLU-146 DEL; SER-143; ILE-276; CYS-312; ARG-316 AND LEU-339.
[11]	"Phenotypic spectrum associated with mutations in the fukutin-related protein gene." Mercuri E., Brockington M., Straub V., Quijano-Roy S., Yuva Y., Herrmann R., Brown S.C., Torelli S., Dubowitz V., Blake D.J., Romero N.B., Estournet B., Sewry C.A., Guicheney P., Voit T., Muntoni F. Ann. Neurol. 53:537-542(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MDDGB5 CYS-309; HIS-339 AND LEU-448, VARIANTS MDDGC5 ILE-276; ASN-307; SER-316; ASN-360 AND SER-462.
[12]	"Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum." de Paula F., Vieira N., Starling A., Yamamoto L.U., Lima B., de Cassia Pavanello R., Vainzof M., Nigro V., Zatz M. Eur. J. Hum. Genet. 11:923-930(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MDDGC5 MET-79; TRP-134; PHE-160; CYS-182; ILE-276; ILE-293; ALA-300; MET-300 AND LEU-358.
[13]	"FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts." Topaloglu H., Brockington M., Yuva Y., Talim B., Haliloglu G., Blake D.J., Torelli S., Brown S.C., Muntoni F. Neurology 60:988-992(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MDDGB5 ARG-221 AND THR-315.
[14]	"Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation." Harel T., Goldberg Y., Shalev S.A., Chervinski I., Ofir R., Birk O.S. Eur. J. Hum. Genet. 12:38-43(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MDDGC5 TRP-54.
[15]	"Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome." Beltran-Valero de Bernabe D., Voit T., Longman C., Steinbrecher A., Straub V., Yuva Y., Herrmann R., Sperner J., Korenke C., Diesen C., Dobyns W.B., Brunner H.G., van Bokhoven H., Brockington M., Muntoni F. J. Med. Genet. 41:E61-E61(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MDDGA5 ASN-307 AND TYR-318.
[16]	"New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families." Louhichi N., Triki C., Quijano-Roy S., Richard P., Makri S., Meziou M., Estournet B., Mrad S., Romero N.B., Ayadi H., Guicheney P., Fakhfakh F. Neurogenetics 5:27-34(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MDDGB5 LEU-405 AND ASP-455.
[17]	"A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex." MacLeod H., Pytel P., Wollmann R., Chelmicka-Schorr E., Silver K., Anderson R.B., Waggoner D., McNally E.M. Neuromuscul. Disord. 17:285-289(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MDDGB5 ASP-463.
+	Additional computationally mapped references.

Web resources

GeneReviews

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ314847 mRNA. Translation: CAC85633.1. AK022638 mRNA. Translation: BAB14146.1. AK095497 mRNA. Translation: BAG53071.1. AK291282 mRNA. Translation: BAF83971.1. AC008622 Genomic DNA. No translation available. CH471126 Genomic DNA. Translation: EAW57444.1. BC002612 mRNA. Translation: AAH02612.1.
IPI	IPI00013281.
RefSeq	NP_001034974.1. NM_001039885.2. NP_077277.1. NM_024301.4.
UniGene	Hs.515493.
3D structure databases
ProteinModelPortal	Q9H9S5.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000326570.
PTM databases
PhosphoSite	Q9H9S5.
Polymorphism databases
DMDM	46395992.
Proteomic databases
PaxDb	Q9H9S5.
PRIDE	Q9H9S5.
Protocols and materials databases
DNASU	79147.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000318584; ENSP00000326570; ENSG00000181027. ENST00000391909; ENSP00000375776; ENSG00000181027.
GeneID	79147.
KEGG	hsa:79147.
UCSC	uc002pfn.2. human.
Organism-specific databases
CTD	79147.
GeneCards	GC19P047249.
HGNC	HGNC:17997. FKRP.
MIM	606596. gene. 606612. phenotype. 607155. phenotype. 613153. phenotype.
neXtProt	NX_Q9H9S5.
Orphanet	34515. Autosomal recessive limb-girdle muscular dystrophy type 2I. 52428. Congenital muscular dystrophy type 1C. 588. Muscle eye brain disease. 899. Walker-Warburg syndrome.
PharmGKB	PA134976709.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG3475.
HOGENOM	HOG000007172.
HOVERGEN	HBG048950.
InParanoid	Q9H9S5.
OMA	TAHARWK.
OrthoDB	EOG4HHP27.
PhylomeDB	Q9H9S5.
Gene expression databases
Bgee	Q9H9S5.
CleanEx	HS_FKRP.
Genevestigator	Q9H9S5.
GermOnline	ENSG00000181027. Homo sapiens.
Family and domain databases
InterPro	IPR007074. LicD. [Graphical view]
Pfam	PF04991. LicD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	79147.
NextBio	68051.
SOURCE	Search...

Entry information

Entry name

FKRP_HUMAN

Accession

Primary (citable) accession number: Q9H9S5
Secondary accession number(s): A8K5G7

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 13, 2004
Last sequence update:	March 1, 2001
Last modified:	May 1, 2013
This is version 95 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.