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Protein

Fukutin-related protein

Gene

FKRP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.1 Publication

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.1 Publication
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

GO - Biological processi

  • protein O-linked mannosylation Source: UniProtKB
  • protein processing Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Enzyme and pathway databases

UniPathwayiUPA00378.

Names & Taxonomyi

Protein namesi
Recommended name:
Fukutin-related protein (EC:2.-.-.-)
Gene namesi
Name:FKRP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:17997. FKRP.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66CytoplasmicSequence analysis
Transmembranei7 – 2923HelicalSequence analysisAdd
BLAST
Topological domaini30 – 495466LumenalSequence analysisAdd
BLAST

GO - Cellular componenti

  • dystrophin-associated glycoprotein complex Source: Ensembl
  • extracellular space Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • Golgi membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • rough endoplasmic reticulum Source: UniProtKB
  • sarcolemma Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Golgi apparatus, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:613153
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti307 – 3071Y → N in MDDGC5 and MDDGA5; muscle-eye-brain disease. 2 Publications
Corresponds to variant rs104894692 [ dbSNP | Ensembl ].
VAR_022850
Natural varianti318 – 3181C → Y in MDDGA5; severe Walker-Warburg syndrome. 1 Publication
Corresponds to variant rs104894684 [ dbSNP | Ensembl ].
VAR_022852
Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:606612
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti114 – 1141A → G in MDDGB5; unknown pathological significance. 1 Publication
Corresponds to variant rs143793528 [ dbSNP | Ensembl ].
VAR_018280
Natural varianti217 – 2171P → T in MDDGB5. 1 Publication
VAR_018283
Natural varianti221 – 2211S → R in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
Corresponds to variant rs28937902 [ dbSNP | Ensembl ].
VAR_018284
Natural varianti309 – 3091Y → C in MDDGB5. 2 Publications
Corresponds to variant rs104894679 [ dbSNP | Ensembl ].
VAR_018286
Natural varianti315 – 3151P → T in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
VAR_018288
Natural varianti316 – 3161P → R in MDDGB5 and MDDGC5. 2 Publications
Corresponds to variant rs752582904 [ dbSNP | Ensembl ].
VAR_018289
Natural varianti328 – 3281Y → S in MDDGB5. 1 Publication
VAR_018290
Natural varianti339 – 3391R → H in MDDGB5. 2 Publications
VAR_018292
Natural varianti401 – 4011D → N in MDDGB5. 1 Publication
VAR_018293
Natural varianti405 – 4051V → L in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
Corresponds to variant rs28937904 [ dbSNP | Ensembl ].
VAR_022854
Natural varianti448 – 4481P → L in MDDGB5; strongly reduced secretion to the medium; localizes mainly to the ER compartment. 4 Publications
Corresponds to variant rs104894681 [ dbSNP | Ensembl ].
VAR_018294
Natural varianti455 – 4551A → D in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
Corresponds to variant rs28937903 [ dbSNP | Ensembl ].
VAR_022855
Natural varianti463 – 4631N → D in MDDGB5. 1 Publication
Corresponds to variant rs121908110 [ dbSNP | Ensembl ].
VAR_065063
Natural varianti465 – 4651Y → S in MDDGB5. 1 Publication
VAR_018295
Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:607155
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541R → W in MDDGC5. 1 Publication
Corresponds to variant rs28937905 [ dbSNP | Ensembl ].
VAR_019272
Natural varianti79 – 791V → M in MDDGC5. 1 Publication
Corresponds to variant rs104894683 [ dbSNP | Ensembl ].
VAR_065055
Natural varianti134 – 1341R → W in MDDGC5. 1 Publication
Corresponds to variant rs104894690 [ dbSNP | Ensembl ].
VAR_065056
Natural varianti143 – 1464Missing in MDDGC5. 1 Publication
VAR_018281
Natural varianti143 – 1431R → S in MDDGC5. 1 Publication
Corresponds to variant rs148206382 [ dbSNP | Ensembl ].
VAR_018282
Natural varianti160 – 1601V → F in MDDGC5. 1 Publication
VAR_065057
Natural varianti182 – 1821Y → C in MDDGC5. 1 Publication
Corresponds to variant rs543163491 [ dbSNP | Ensembl ].
VAR_065058
Natural varianti276 – 2761L → I in MDDGC5; reduced secretion to the medium; localizes mainly to the Golgi apparatus. 5 Publications
Corresponds to variant rs28937900 [ dbSNP | Ensembl ].
VAR_018285
Natural varianti293 – 2931T → I in MDDGC5. 1 Publication
VAR_065059
Natural varianti300 – 3001V → A in MDDGC5. 1 Publication
Corresponds to variant rs104894691 [ dbSNP | Ensembl ].
VAR_065060
Natural varianti300 – 3001V → M in MDDGC5. 1 Publication
Corresponds to variant rs563033008 [ dbSNP | Ensembl ].
VAR_065061
Natural varianti307 – 3071Y → N in MDDGC5 and MDDGA5; muscle-eye-brain disease. 2 Publications
Corresponds to variant rs104894692 [ dbSNP | Ensembl ].
VAR_022850
Natural varianti312 – 3121R → C in MDDGC5. 1 Publication
VAR_018287
Natural varianti316 – 3161P → R in MDDGB5 and MDDGC5. 2 Publications
Corresponds to variant rs752582904 [ dbSNP | Ensembl ].
VAR_018289
Natural varianti316 – 3161P → S in MDDGC5. 1 Publication
VAR_022851
Natural varianti339 – 3391R → L in MDDGC5. 1 Publication
VAR_018291
Natural varianti358 – 3581P → L in MDDGC5. 1 Publication
Corresponds to variant rs143031195 [ dbSNP | Ensembl ].
VAR_065062
Natural varianti360 – 3601D → N in MDDGC5. 1 Publication
VAR_022853
Natural varianti462 – 4621P → S in MDDGC5. 1 Publication
Corresponds to variant rs768606230 [ dbSNP | Ensembl ].
VAR_022856

Keywords - Diseasei

Cardiomyopathy, Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Limb-girdle muscular dystrophy, Lissencephaly

Organism-specific databases

MalaCardsiFKRP.
MIMi606612. phenotype.
607155. phenotype.
613153. phenotype.
Orphaneti34515. Autosomal recessive limb-girdle muscular dystrophy type 2I.
370959. Congenital muscular dystrophy with cerebellar involvement.
370968. Congenital muscular dystrophy with intellectual disability.
370980. Congenital muscular dystrophy without intellectual disability.
588. Muscle-eye-brain disease.
899. Walker-Warburg syndrome.
PharmGKBiPA134976709.

Polymorphism and mutation databases

BioMutaiFKRP.
DMDMi46395992.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 495495Fukutin-related proteinPRO_0000204723Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi6 – 6Interchain1 Publication
Glycosylationi172 – 1721N-linked (GlcNAc...)1 Publication
Glycosylationi209 – 2091N-linked (GlcNAc...)1 Publication

Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9H9S5.
MaxQBiQ9H9S5.
PaxDbiQ9H9S5.
PeptideAtlasiQ9H9S5.
PRIDEiQ9H9S5.

PTM databases

PhosphoSiteiQ9H9S5.
SwissPalmiQ9H9S5.

Expressioni

Tissue specificityi

Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver kidney and pancreas.

Gene expression databases

BgeeiENSG00000181027.
CleanExiHS_FKRP.
ExpressionAtlasiQ9H9S5. baseline and differential.
GenevisibleiQ9H9S5. HS.

Organism-specific databases

HPAiHPA043115.
HPA060454.

Interactioni

Subunit structurei

May interact with the dystrophin-glycoprotein complex (DGC) (By similarity). Homodimer; disulfide-linked. Exists also as large multimeric protein complexes.By similarity1 Publication

Protein-protein interaction databases

BioGridi122565. 17 interactions.
STRINGi9606.ENSP00000326570.

Structurei

3D structure databases

ProteinModelPortaliQ9H9S5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the LicD transferase family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFID. Eukaryota.
ENOG410XP2R. LUCA.
GeneTreeiENSGT00390000017583.
HOGENOMiHOG000007172.
HOVERGENiHBG048950.
InParanoidiQ9H9S5.
KOiK19873.
OMAiTAHARWK.
OrthoDBiEOG091G09OB.
PhylomeDBiQ9H9S5.
TreeFamiTF324064.

Family and domain databases

InterProiIPR007074. LicD_fam.
[Graphical view]
PfamiPF04991. LicD. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9H9S5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRLTRCQAAL AAAITLNLLV LFYVSWLQHQ PRNSRARGPR RASAAGPRVT
60 70 80 90 100
VLVREFEAFD NAVPELVDSF LQQDPAQPVV VAADTLPYPP LALPRIPNVR
110 120 130 140 150
LALLQPALDR PAAASRPETY VATEFVALVP DGARAEAPGL LERMVEALRA
160 170 180 190 200
GSARLVAAPV ATANPARCLA LNVSLREWTA RYGAAPAAPR CDALDGDAVV
210 220 230 240 250
LLRARDLFNL SAPLARPVGT SLFLQTALRG WAVQLLDLTF AAARQPPLAT
260 270 280 290 300
AHARWKAERE GRARRAALLR ALGIRLVSWE GGRLEWFGCN KETTRCFGTV
310 320 330 340 350
VGDTPAYLYE ERWTPPCCLR ALRETARYVV GVLEAAGVRY WLEGGSLLGA
360 370 380 390 400
ARHGDIIPWD YDVDLGIYLE DVGNCEQLRG AEAGSVVDER GFVWEKAVEG
410 420 430 440 450
DFFRVQYSES NHLHVDLWPF YPRNGVMTKD TWLDHRQDVE FPEHFLQPLV
460 470 480 490
PLPFAGFVAQ APNNYRRFLE LKFGPGVIEN PQYPNPALLS LTGSG
Length:495
Mass (Da):54,568
Last modified:March 1, 2001 - v1
Checksum:i8D47756C28C6F578
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541R → W in MDDGC5. 1 Publication
Corresponds to variant rs28937905 [ dbSNP | Ensembl ].
VAR_019272
Natural varianti79 – 791V → M in MDDGC5. 1 Publication
Corresponds to variant rs104894683 [ dbSNP | Ensembl ].
VAR_065055
Natural varianti114 – 1141A → G in MDDGB5; unknown pathological significance. 1 Publication
Corresponds to variant rs143793528 [ dbSNP | Ensembl ].
VAR_018280
Natural varianti134 – 1341R → W in MDDGC5. 1 Publication
Corresponds to variant rs104894690 [ dbSNP | Ensembl ].
VAR_065056
Natural varianti143 – 1464Missing in MDDGC5. 1 Publication
VAR_018281
Natural varianti143 – 1431R → S in MDDGC5. 1 Publication
Corresponds to variant rs148206382 [ dbSNP | Ensembl ].
VAR_018282
Natural varianti160 – 1601V → F in MDDGC5. 1 Publication
VAR_065057
Natural varianti182 – 1821Y → C in MDDGC5. 1 Publication
Corresponds to variant rs543163491 [ dbSNP | Ensembl ].
VAR_065058
Natural varianti217 – 2171P → T in MDDGB5. 1 Publication
VAR_018283
Natural varianti221 – 2211S → R in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
Corresponds to variant rs28937902 [ dbSNP | Ensembl ].
VAR_018284
Natural varianti276 – 2761L → I in MDDGC5; reduced secretion to the medium; localizes mainly to the Golgi apparatus. 5 Publications
Corresponds to variant rs28937900 [ dbSNP | Ensembl ].
VAR_018285
Natural varianti293 – 2931T → I in MDDGC5. 1 Publication
VAR_065059
Natural varianti300 – 3001V → A in MDDGC5. 1 Publication
Corresponds to variant rs104894691 [ dbSNP | Ensembl ].
VAR_065060
Natural varianti300 – 3001V → M in MDDGC5. 1 Publication
Corresponds to variant rs563033008 [ dbSNP | Ensembl ].
VAR_065061
Natural varianti307 – 3071Y → N in MDDGC5 and MDDGA5; muscle-eye-brain disease. 2 Publications
Corresponds to variant rs104894692 [ dbSNP | Ensembl ].
VAR_022850
Natural varianti309 – 3091Y → C in MDDGB5. 2 Publications
Corresponds to variant rs104894679 [ dbSNP | Ensembl ].
VAR_018286
Natural varianti312 – 3121R → C in MDDGC5. 1 Publication
VAR_018287
Natural varianti315 – 3151P → T in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
VAR_018288
Natural varianti316 – 3161P → R in MDDGB5 and MDDGC5. 2 Publications
Corresponds to variant rs752582904 [ dbSNP | Ensembl ].
VAR_018289
Natural varianti316 – 3161P → S in MDDGC5. 1 Publication
VAR_022851
Natural varianti318 – 3181C → Y in MDDGA5; severe Walker-Warburg syndrome. 1 Publication
Corresponds to variant rs104894684 [ dbSNP | Ensembl ].
VAR_022852
Natural varianti328 – 3281Y → S in MDDGB5. 1 Publication
VAR_018290
Natural varianti339 – 3391R → H in MDDGB5. 2 Publications
VAR_018292
Natural varianti339 – 3391R → L in MDDGC5. 1 Publication
VAR_018291
Natural varianti358 – 3581P → L in MDDGC5. 1 Publication
Corresponds to variant rs143031195 [ dbSNP | Ensembl ].
VAR_065062
Natural varianti360 – 3601D → N in MDDGC5. 1 Publication
VAR_022853
Natural varianti401 – 4011D → N in MDDGB5. 1 Publication
VAR_018293
Natural varianti405 – 4051V → L in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
Corresponds to variant rs28937904 [ dbSNP | Ensembl ].
VAR_022854
Natural varianti448 – 4481P → L in MDDGB5; strongly reduced secretion to the medium; localizes mainly to the ER compartment. 4 Publications
Corresponds to variant rs104894681 [ dbSNP | Ensembl ].
VAR_018294
Natural varianti455 – 4551A → D in MDDGB5; severe form; brain involvement; mental retardation and cerebellar cysts on cranial MRI. 1 Publication
Corresponds to variant rs28937903 [ dbSNP | Ensembl ].
VAR_022855
Natural varianti462 – 4621P → S in MDDGC5. 1 Publication
Corresponds to variant rs768606230 [ dbSNP | Ensembl ].
VAR_022856
Natural varianti463 – 4631N → D in MDDGB5. 1 Publication
Corresponds to variant rs121908110 [ dbSNP | Ensembl ].
VAR_065063
Natural varianti465 – 4651Y → S in MDDGB5. 1 Publication
VAR_018295

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS12691.1.
RefSeqiNP_001034974.1. NM_001039885.2.
NP_077277.1. NM_024301.4.
XP_005259304.1. XM_005259247.2.
XP_005259305.1. XM_005259248.2.
XP_005259306.1. XM_005259249.4.
XP_011525608.1. XM_011527306.1.
XP_011525609.1. XM_011527307.1.
UniGeneiHs.515493.

Genome annotation databases

EnsembliENST00000318584; ENSP00000326570; ENSG00000181027.
ENST00000391909; ENSP00000375776; ENSG00000181027.
GeneIDi79147.
KEGGihsa:79147.
UCSCiuc002pfn.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS12691.1.
RefSeqiNP_001034974.1. NM_001039885.2.
NP_077277.1. NM_024301.4.
XP_005259304.1. XM_005259247.2.
XP_005259305.1. XM_005259248.2.
XP_005259306.1. XM_005259249.4.
XP_011525608.1. XM_011527306.1.
XP_011525609.1. XM_011527307.1.
UniGeneiHs.515493.

3D structure databases

ProteinModelPortaliQ9H9S5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122565. 17 interactions.
STRINGi9606.ENSP00000326570.

PTM databases

PhosphoSiteiQ9H9S5.
SwissPalmiQ9H9S5.

Polymorphism and mutation databases

BioMutaiFKRP.
DMDMi46395992.

Proteomic databases

EPDiQ9H9S5.
MaxQBiQ9H9S5.
PaxDbiQ9H9S5.
PeptideAtlasiQ9H9S5.
PRIDEiQ9H9S5.

Protocols and materials databases

DNASUi79147.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318584; ENSP00000326570; ENSG00000181027.
ENST00000391909; ENSP00000375776; ENSG00000181027.
GeneIDi79147.
KEGGihsa:79147.
UCSCiuc002pfn.3. human.

Organism-specific databases

CTDi79147.
GeneCardsiFKRP.
GeneReviewsiFKRP.
HGNCiHGNC:17997. FKRP.
HPAiHPA043115.
HPA060454.
MalaCardsiFKRP.
MIMi606596. gene.
606612. phenotype.
607155. phenotype.
613153. phenotype.
neXtProtiNX_Q9H9S5.
Orphaneti34515. Autosomal recessive limb-girdle muscular dystrophy type 2I.
370959. Congenital muscular dystrophy with cerebellar involvement.
370968. Congenital muscular dystrophy with intellectual disability.
370980. Congenital muscular dystrophy without intellectual disability.
588. Muscle-eye-brain disease.
899. Walker-Warburg syndrome.
PharmGKBiPA134976709.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFID. Eukaryota.
ENOG410XP2R. LUCA.
GeneTreeiENSGT00390000017583.
HOGENOMiHOG000007172.
HOVERGENiHBG048950.
InParanoidiQ9H9S5.
KOiK19873.
OMAiTAHARWK.
OrthoDBiEOG091G09OB.
PhylomeDBiQ9H9S5.
TreeFamiTF324064.

Enzyme and pathway databases

UniPathwayiUPA00378.

Miscellaneous databases

GenomeRNAii79147.
PROiQ9H9S5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181027.
CleanExiHS_FKRP.
ExpressionAtlasiQ9H9S5. baseline and differential.
GenevisibleiQ9H9S5. HS.

Family and domain databases

InterProiIPR007074. LicD_fam.
[Graphical view]
PfamiPF04991. LicD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFKRP_HUMAN
AccessioniPrimary (citable) accession number: Q9H9S5
Secondary accession number(s): A8K5G7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: March 1, 2001
Last modified: September 7, 2016
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.