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Protein

Filaggrin

Gene

FLG

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

Functioni

Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi62 – 7312PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • structural molecule activity Source: UniProtKB

GO - Biological processi

  • establishment of skin barrier Source: UniProtKB
  • keratinocyte differentiation Source: BHF-UCL
  • multicellular organism development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

Calcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Filaggrin
Gene namesi
Name:FLG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:3748. FLG.

Subcellular locationi

GO - Cellular componenti

  • intermediate filament Source: UniProtKB
  • intracellular membrane-bounded organelle Source: HPA
  • keratohyalin granule Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Ichthyosis vulgaris (VI)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe most common form of ichthyosis inherited as an autosomal dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with frequent asthma, eczema or hay fever.
See also OMIM:146700
Dermatitis atopic 2 (ATOD2)4 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionAtopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE-mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee.
See also OMIM:605803

Keywords - Diseasei

Ichthyosis

Organism-specific databases

MalaCardsiFLG.
MIMi146700. phenotype.
605803. phenotype.
Orphaneti462. Autosomal dominant ichthyosis vulgaris.
PharmGKBiPA28169.

Polymorphism and mutation databases

BioMutaiFLG.
DMDMi84028206.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 40614061FilaggrinPRO_0000144036Add
BLAST

Post-translational modificationi

Filaggrin is initially synthesized as a large, insoluble, highly phosphorylated precursor containing many tandem copies of 324 AA, which are not separated by large linker sequences. During terminal differentiation it is dephosphorylated and proteolytically cleaved. The N-terminal of the mature protein is heterogeneous, and is blocked by the formation of pyroglutamate.
Undergoes deimination of some arginine residues (citrullination).1 Publication

Keywords - PTMi

Citrullination, Phosphoprotein

Proteomic databases

EPDiP20930.
MaxQBiP20930.
PaxDbiP20930.
PeptideAtlasiP20930.
PRIDEiP20930.

PTM databases

iPTMnetiP20930.
PhosphoSiteiP20930.

Expressioni

Tissue specificityi

Expressed in skin, thymus, stomach, tonsils, testis, placenta, kidney, pancreas, mammary gland, bladder, thyroid, salivary gland and trachea, but not detected in heart, brain, liver, lung, bone marrow, small intestine, spleen, prostate, colon, or adrenal gland (PubMed:19384417). In the skin, mainly expressed in stratum granulosum of the epidermis (PubMed:1429717) (PubMed:19384417).2 Publications

Inductioni

In cultured foreskin fibroblasts, up-regulated in response to Ca2+ stimulation.1 Publication

Gene expression databases

BgeeiP20930.
CleanExiHS_FLG.
GenevisibleiP20930. HS.

Organism-specific databases

HPAiCAB002210.
HPA030188.
HPA030189.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
KLK5Q9Y3374EBI-1058782,EBI-9057524

Protein-protein interaction databases

BioGridi108601. 19 interactions.
IntActiP20930. 6 interactions.
STRINGi9606.ENSP00000357789.

Structurei

Secondary structure

1
4061
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi4 – 1916Combined sources
Helixi30 – 3910Combined sources
Turni43 – 464Combined sources
Turni50 – 534Combined sources
Helixi54 – 618Combined sources
Helixi71 – 8515Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4PCWX-ray2.20A/B/C/D1-92[»]
ProteinModelPortaliP20930.
SMRiP20930. Positions 2-92.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini6 – 4338EF-hand 1PROSITE-ProRule annotationAdd
BLAST
Domaini49 – 8436EF-hand 2PROSITE-ProRule annotationAdd
BLAST
Repeati258 – 30649Filaggrin 1Add
BLAST
Repeati374 – 42855Filaggrin 2Add
BLAST
Repeati579 – 63052Filaggrin 3Add
BLAST
Repeati698 – 75356Filaggrin 4Add
BLAST
Repeati904 – 95552Filaggrin 5Add
BLAST
Repeati1023 – 107755Filaggrin 6Add
BLAST
Repeati1228 – 127952Filaggrin 7Add
BLAST
Repeati1347 – 140155Filaggrin 8Add
BLAST
Repeati1552 – 160352Filaggrin 9Add
BLAST
Repeati1671 – 172555Filaggrin 10Add
BLAST
Repeati1876 – 192752Filaggrin 11Add
BLAST
Repeati1995 – 205056Filaggrin 12Add
BLAST
Repeati2201 – 225252Filaggrin 13Add
BLAST
Repeati2320 – 237455Filaggrin 14Add
BLAST
Repeati2525 – 257652Filaggrin 15Add
BLAST
Repeati2644 – 269855Filaggrin 16Add
BLAST
Repeati2849 – 290052Filaggrin 17Add
BLAST
Repeati2968 – 302255Filaggrin 18Add
BLAST
Repeati3173 – 322452Filaggrin 19Add
BLAST
Repeati3292 – 334655Filaggrin 20Add
BLAST
Repeati3497 – 354852Filaggrin 21Add
BLAST
Repeati3616 – 367055Filaggrin 22Add
BLAST
Repeati3821 – 387252Filaggrin 23Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili186 – 21631Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi260 – 39553696Ser-richAdd
BLAST
Compositional biasi4057 – 40604Poly-Tyr

Sequence similaritiesi

Belongs to the S100-fused protein family.Curated
Contains 2 EF-hand domains.PROSITE-ProRule annotation
Contains 23 filaggrin repeats.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IX7U. Eukaryota.
ENOG410ZH9F. LUCA.
GeneTreeiENSGT00530000063634.
HOGENOMiHOG000112591.
InParanoidiP20930.
OMAiQDTIRGH.
OrthoDBiEOG7ZWD1D.
PhylomeDBiP20930.
TreeFamiTF338665.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR003303. Filaggrin.
IPR001751. S100/CaBP-9k_CS.
IPR013787. S100_Ca-bd_sub.
[Graphical view]
PfamiPF03516. Filaggrin. 23 hits.
PF01023. S_100. 1 hit.
[Graphical view]
PRINTSiPR00487. FILAGGRIN.
SMARTiSM01394. S_100. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
PS00303. S100_CABP. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P20930-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSTLLENIFA IINLFKQYSK KDKNTDTLSK KELKELLEKE FRQILKNPDD
60 70 80 90 100
PDMVDVFMDH LDIDHNKKID FTEFLLMVFK LAQAYYESTR KENLPISGHK
110 120 130 140 150
HRKHSHHDKH EDNKQEENKE NRKRPSSLER RNNRKGNKGR SKSPRETGGK
160 170 180 190 200
RHESSSEKKE RKGYSPTHRE EEYGKNHHNS SKKEKNKTEN TRLGDNRKRL
210 220 230 240 250
SERLEEKEDN EEGVYDYENT GRMTQKWIQS GHIATYYTIQ DEAYDTTDSL
260 270 280 290 300
LEENKIYERS RSSDGKSSSQ VNRSRHENTS QVPLQESRTR KRRGSRVSQD
310 320 330 340 350
RDSEGHSEDS ERHSGSASRN HHGSAWEQSR DGSRHPRSHD EDRASHGHSA
360 370 380 390 400
DSSRQSGTRH AETSSRGQTA SSHEQARSSP GERHGSGHQQ SADSSRHSAT
410 420 430 440 450
GRGQASSAVS DRGHRGSSGS QASDSEGHSE NSDTQSVSGH GKAGLRQQSH
460 470 480 490 500
QESTRGRSGE RSGRSGSSLY QVSTHEQPDS AHGRTGTSTG GRQGSHHEQA
510 520 530 540 550
RDSSRHSASQ EGQDTIRGHP GSSRGGRQGS HHEQSVNRSG HSGSHHSHTT
560 570 580 590 600
SQGRSDASHG QSGSRSASRQ TRNEEQSGDG TRHSGSRHHE ASSQADSSRH
610 620 630 640 650
SQVGQGQSSG PRTSRNQGSS VSQDSDSQGH SEDSERWSGS ASRNHHGSAQ
660 670 680 690 700
EQSRDGSRHP RSHHEDRAGH GHSADSSRKS GTRHTQNSSS GQAASSHEQA
710 720 730 740 750
RSSAGERHGS RHQLQSADSS RHSGTGHGQA SSAVRDSGHR GSSGSQATDS
760 770 780 790 800
EGHSEDSDTQ SVSGHGQAGH HQQSHQESAR DRSGERSRRS GSFLYQVSTH
810 820 830 840 850
KQSESSHGWT GPSTGVRQGS HHEQARDNSR HSASQDGQDT IRGHPGSSRR
860 870 880 890 900
GRQGSHHEQS VDRSGHSGSH HSHTTSQGRS DASRGQSGSR SASRTTRNEE
910 920 930 940 950
QSRDGSRHSG SRHHEASSHA DISRHSQAGQ GQSEGSRTSR RQGSSVSQDS
960 970 980 990 1000
DSEGHSEDSE RWSGSASRNH RGSAQEQSRH GSRHPRSHHE DRAGHGHSAD
1010 1020 1030 1040 1050
SSRQSGTPHA ETSSGGQAAS SHEQARSSPG ERHGSRHQQS ADSSRHSGIP
1060 1070 1080 1090 1100
RRQASSAVRD SGHWGSSGSQ ASDSEGHSEE SDTQSVSGHG QDGPHQQSHQ
1110 1120 1130 1140 1150
ESARDWSGGR SGRSGSFIYQ VSTHEQSESA HGRTRTSTGR RQGSHHEQAR
1160 1170 1180 1190 1200
DSSRHSASQE GQDTIRAHPG SRRGGRQGSH HEQSVDRSGH SGSHHSHTTS
1210 1220 1230 1240 1250
QGRSDASHGQ SGSRSASRQT RKDKQSGDGS RHSGSRHHEA ASWADSSRHS
1260 1270 1280 1290 1300
QVGQEQSSGS RTSRHQGSSV SQDSDSERHS DDSERLSGSA SRNHHGSSRE
1310 1320 1330 1340 1350
QSRDGSRHPG FHQEDRASHG HSADSSRQSG THHTESSSHG QAVSSHEQAR
1360 1370 1380 1390 1400
SSPGERHGSR HQQSADSSRH SGIGHRQASS AVRDSGHRGS SGSQVTNSEG
1410 1420 1430 1440 1450
HSEDSDTQSV SAHGQAGPHQ QSHKESARGQ SGESSGRSRS FLYQVSSHEQ
1460 1470 1480 1490 1500
SESTHGQTAP STGGRQGSRH EQARNSSRHS ASQDGQDTIR GHPGSSRGGR
1510 1520 1530 1540 1550
QGSYHEQSVD RSGHSGYHHS HTTPQGRSDA SHGQSGPRSA SRQTRNEEQS
1560 1570 1580 1590 1600
GDGSRHSGSR HHEPSTRAGS SRHSQVGQGE SAGSKTSRRQ GSSVSQDRDS
1610 1620 1630 1640 1650
EGHSEDSERR SESASRNHYG SAREQSRHGS RNPRSHQEDR ASHGHSAESS
1660 1670 1680 1690 1700
RQSGTRHAET SSGGQAASSQ EQARSSPGER HGSRHQQSAD SSTDSGTGRR
1710 1720 1730 1740 1750
QDSSVVGDSG NRGSSGSQAS DSEGHSEESD TQSVSAHGQA GPHQQSHQES
1760 1770 1780 1790 1800
TRGQSGERSG RSGSFLYQVS THEQSESAHG RTGPSTGGRQ RSRHEQARDS
1810 1820 1830 1840 1850
SRHSASQEGQ DTIRGHPGSS RGGRQGSHYE QSVDSSGHSG SHHSHTTSQE
1860 1870 1880 1890 1900
RSDVSRGQSG SRSVSRQTRN EKQSGDGSRH SGSRHHEASS RADSSRHSQV
1910 1920 1930 1940 1950
GQGQSSGPRT SRNQGSSVSQ DSDSQGHSED SERWSGSASR NHLGSAWEQS
1960 1970 1980 1990 2000
RDGSRHPGSH HEDRAGHGHS ADSSRQSGTR HTESSSRGQA ASSHEQARSS
2010 2020 2030 2040 2050
AGERHGSHHQ LQSADSSRHS GIGHGQASSA VRDSGHRGYS GSQASDSEGH
2060 2070 2080 2090 2100
SEDSDTQSVS AQGKAGPHQQ SHKESARGQS GESSGRSGSF LYQVSTHEQS
2110 2120 2130 2140 2150
ESTHGQSAPS TGGRQGSHYD QAQDSSRHSA SQEGQDTIRG HPGPSRGGRQ
2160 2170 2180 2190 2200
GSHQEQSVDR SGHSGSHHSH TTSQGRSDAS RGQSGSRSAS RKTYDKEQSG
2210 2220 2230 2240 2250
DGSRHSGSHH HEASSWADSS RHSLVGQGQS SGPRTSRPRG SSVSQDSDSE
2260 2270 2280 2290 2300
GHSEDSERRS GSASRNHHGS AQEQSRDGSR HPRSHHEDRA GHGHSAESSR
2310 2320 2330 2340 2350
QSGTHHAENS SGGQAASSHE QARSSAGERH GSHHQQSADS SRHSGIGHGQ
2360 2370 2380 2390 2400
ASSAVRDSGH RGSSGSQASD SEGHSEDSDT QSVSAHGQAG PHQQSHQEST
2410 2420 2430 2440 2450
RGRSAGRSGR SGSFLYQVST HEQSESAHGR TGTSTGGRQG SHHKQARDSS
2460 2470 2480 2490 2500
RHSTSQEGQD TIHGHPGSSS GGRQGSHYEQ LVDRSGHSGS HHSHTTSQGR
2510 2520 2530 2540 2550
SDASHGHSGS RSASRQTRND EQSGDGSRHS GSRHHEASSR ADSSGHSQVG
2560 2570 2580 2590 2600
QGQSEGPRTS RNWGSSFSQD SDSQGHSEDS ERWSGSASRN HHGSAQEQLR
2610 2620 2630 2640 2650
DGSRHPRSHQ EDRAGHGHSA DSSRQSGTRH TQTSSGGQAA SSHEQARSSA
2660 2670 2680 2690 2700
GERHGSHHQQ SADSSRHSGI GHGQASSAVR DSGHRGYSGS QASDNEGHSE
2710 2720 2730 2740 2750
DSDTQSVSAH GQAGSHQQSH QESARGRSGE TSGHSGSFLY QVSTHEQSES
2760 2770 2780 2790 2800
SHGWTGPSTR GRQGSRHEQA QDSSRHSASQ DGQDTIRGHP GSSRGGRQGY
2810 2820 2830 2840 2850
HHEHSVDSSG HSGSHHSHTT SQGRSDASRG QSGSRSASRT TRNEEQSGDG
2860 2870 2880 2890 2900
SRHSGSRHHE ASTHADISRH SQAVQGQSEG SRRSRRQGSS VSQDSDSEGH
2910 2920 2930 2940 2950
SEDSERWSGS ASRNHHGSAQ EQLRDGSRHP RSHQEDRAGH GHSADSSRQS
2960 2970 2980 2990 3000
GTRHTQTSSG GQAASSHEQA RSSAGERHGS HHQQSADSSR HSGIGHGQAS
3010 3020 3030 3040 3050
SAVRDSGHRG YSGSQASDNE GHSEDSDTQS VSAHGQAGSH QQSHQESARG
3060 3070 3080 3090 3100
RSGETSGHSG SFLYQVSTHE QSESSHGWTG PSTRGRQGSR HEQAQDSSRH
3110 3120 3130 3140 3150
SASQYGQDTI RGHPGSSRGG RQGYHHEHSV DSSGHSGSHH SHTTSQGRSD
3160 3170 3180 3190 3200
ASRGQSGSRS ASRTTRNEEQ SGDSSRHSVS RHHEASTHAD ISRHSQAVQG
3210 3220 3230 3240 3250
QSEGSRRSRR QGSSVSQDSD SEGHSEDSER WSGSASRNHR GSVQEQSRHG
3260 3270 3280 3290 3300
SRHPRSHHED RAGHGHSADR SRQSGTRHAE TSSGGQAASS HEQARSSPGE
3310 3320 3330 3340 3350
RHGSRHQQSA DSSRHSGIPR GQASSAVRDS RHWGSSGSQA SDSEGHSEES
3360 3370 3380 3390 3400
DTQSVSGHGQ AGPHQQSHQE SARDRSGGRS GRSGSFLYQV STHEQSESAH
3410 3420 3430 3440 3450
GRTRTSTGRR QGSHHEQARD SSRHSASQEG QDTIRGHPGS SRRGRQGSHY
3460 3470 3480 3490 3500
EQSVDRSGHS GSHHSHTTSQ GRSDASRGQS GSRSASRQTR NDEQSGDGSR
3510 3520 3530 3540 3550
HSWSHHHEAS TQADSSRHSQ SGQGQSAGPR TSRNQGSSVS QDSDSQGHSE
3560 3570 3580 3590 3600
DSERWSGSAS RNHRGSAQEQ SRDGSRHPTS HHEDRAGHGH SAESSRQSGT
3610 3620 3630 3640 3650
HHAENSSGGQ AASSHEQARS SAGERHGSHH QQSADSSRHS GIGHGQASSA
3660 3670 3680 3690 3700
VRDSGHRGSS GSQASDSEGH SEDSDTQSVS AHGQAGPHQQ SHQESTRGRS
3710 3720 3730 3740 3750
AGRSGRSGSF LYQVSTHEQS ESAHGRAGPS TGGRQGSRHE QARDSSRHSA
3760 3770 3780 3790 3800
SQEGQDTIRG HPGSRRGGRQ GSYHEQSVDR SGHSGSHHSH TTSQGRSDAS
3810 3820 3830 3840 3850
HGQSGSRSAS RETRNEEQSG DGSRHSGSRH HEASTQADSS RHSQSGQGES
3860 3870 3880 3890 3900
AGSRRSRRQG SSVSQDSDSE AYPEDSERRS ESASRNHHGS SREQSRDGSR
3910 3920 3930 3940 3950
HPGSSHRDTA SHVQSSPVQS DSSTAKEHGH FSSLSQDSAY HSGIQSRGSP
3960 3970 3980 3990 4000
HSSSSYHYQS EGTERQKGQS GLVWRHGSYG SADYDYGESG FRHSQHGSVS
4010 4020 4030 4040 4050
YNSNPVVFKE RSDICKASAF GKDHPRYYAT YINKDPGLCG HSSDISKQLG
4060
FSQSQRYYYY E
Length:4,061
Mass (Da):435,170
Last modified:December 20, 2005 - v3
Checksum:i3F4B1181F04AD9C0
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2444 – 24441K → Q in AAA52454 (PubMed:2740331).Curated
Sequence conflicti2466 – 24661P → R in AAA52454 (PubMed:2740331).Curated
Sequence conflicti2652 – 26521E → D in AAA52454 (PubMed:2740331).Curated
Sequence conflicti2804 – 28041H → Q in AAA52454 (PubMed:2740331).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti332 – 3321G → V.
Corresponds to variant rs41267154 [ dbSNP | Ensembl ].
VAR_061049
Natural varianti444 – 4441G → R.
Corresponds to variant rs11588170 [ dbSNP | Ensembl ].
VAR_061050
Natural varianti454 – 4541T → A.
Corresponds to variant rs2011331 [ dbSNP | Ensembl ].
VAR_059155
Natural varianti478 – 4781P → S.
Corresponds to variant rs11584340 [ dbSNP | Ensembl ].
VAR_059156
Natural varianti725 – 7251T → I.
Corresponds to variant rs3120655 [ dbSNP | Ensembl ].
VAR_059157
Natural varianti742 – 7421S → Y.
Corresponds to variant rs3120654 [ dbSNP | Ensembl ].
VAR_061051
Natural varianti1184 – 11841S → L.
Corresponds to variant rs3120649 [ dbSNP | Ensembl ].
VAR_045968
Natural varianti1376 – 13761R → G.
Corresponds to variant rs11581433 [ dbSNP | Ensembl ].
VAR_045969
Natural varianti1437 – 14371R → C.
Corresponds to variant rs12750571 [ dbSNP | Ensembl ].
VAR_045970
Natural varianti1482 – 14821S → Y.
Corresponds to variant rs11204978 [ dbSNP | Ensembl ].
VAR_059158
Natural varianti1684 – 16841R → H.
Corresponds to variant rs12407807 [ dbSNP | Ensembl ].
VAR_061052
Natural varianti1699 – 16991R → C.
Corresponds to variant rs12405278 [ dbSNP | Ensembl ].
VAR_059159
Natural varianti1750 – 17501S → F.
Corresponds to variant rs3120647 [ dbSNP | Ensembl ].
VAR_059160
Natural varianti1805 – 18051A → V.
Corresponds to variant rs12405241 [ dbSNP | Ensembl ].
VAR_045971
Natural varianti1816 – 18161H → Q.
Corresponds to variant rs12073613 [ dbSNP | Ensembl ].
VAR_059161
Natural varianti1891 – 18911R → Q.
Corresponds to variant rs12407748 [ dbSNP | Ensembl ].
VAR_059162
Natural varianti1961 – 19611H → Q.
Corresponds to variant rs3126079 [ dbSNP | Ensembl ].
VAR_045972
Natural varianti2022 – 20221I → T.
Corresponds to variant rs142592778 [ dbSNP | Ensembl ].
VAR_045973
Natural varianti2108 – 21081A → V.
Corresponds to variant rs7522925 [ dbSNP | Ensembl ].
VAR_059163
Natural varianti2119 – 21191Y → H.
Corresponds to variant rs7512553 [ dbSNP | Ensembl ].
VAR_059164
Natural varianti2194 – 21941Y → H.
Corresponds to variant rs2184953 [ dbSNP | Ensembl ].
VAR_059165
Natural varianti2507 – 25071H → Q.
Corresponds to variant rs3126074 [ dbSNP | Ensembl ].
VAR_045974
Natural varianti2540 – 25401R → Q.
Corresponds to variant rs148050570 [ dbSNP | Ensembl ].
VAR_048472
Natural varianti2545 – 25451G → R.
Corresponds to variant rs3126072 [ dbSNP | Ensembl ].
VAR_059166
Natural varianti2781 – 27811D → Y.
Corresponds to variant rs2065958 [ dbSNP | Ensembl ].
VAR_048473
Natural varianti3105 – 31051Y → D.
Corresponds to variant rs2065958 [ dbSNP | Ensembl ].
VAR_059167
Natural varianti3179 – 31791V → G.
Corresponds to variant rs2065957 [ dbSNP | Ensembl ].
VAR_059168
Natural varianti3371 – 33711S → F.
Corresponds to variant rs3120647 [ dbSNP | Ensembl ].
VAR_048474
Natural varianti3396 – 33961S → P.
Corresponds to variant rs528344105 [ dbSNP | Ensembl ].
VAR_048475
Natural varianti3415 – 34151H → Y.
Corresponds to variant rs7512553 [ dbSNP | Ensembl ].
VAR_048476
Natural varianti3427 – 34271S → Y.
Corresponds to variant rs11204978 [ dbSNP | Ensembl ].
VAR_048477
Natural varianti3436 – 34361G → A.
Corresponds to variant rs2065955 [ dbSNP | Ensembl ].
VAR_033931
Natural varianti3437 – 34371H → Q.
Corresponds to variant rs12073613 [ dbSNP | Ensembl ].
VAR_048478
Natural varianti3490 – 34901R → C.
Corresponds to variant rs113933537 [ dbSNP | Ensembl ].
VAR_048479
Natural varianti3503 – 35031W → G.
Corresponds to variant rs12728908 [ dbSNP | Ensembl ].
VAR_059169
Natural varianti3512 – 35121Q → R.
Corresponds to variant rs571269174 [ dbSNP | Ensembl ].
VAR_048480
Natural varianti3564 – 35641R → H.
Corresponds to variant rs7518080 [ dbSNP | Ensembl ].
VAR_059170
Natural varianti3584 – 35841D → N.
Corresponds to variant rs3814300 [ dbSNP | Ensembl ].
VAR_048481
Natural varianti3593 – 35931E → D.
Corresponds to variant rs12083389 [ dbSNP | Ensembl ].
VAR_059171
Natural varianti3630 – 36301H → Y.
Corresponds to variant rs76019722 [ dbSNP | Ensembl ].
VAR_059172
Natural varianti3695 – 36951S → F.
Corresponds to variant rs3120647 [ dbSNP | Ensembl ].
VAR_048482
Natural varianti3696 – 36961T → A.
Corresponds to variant rs537909579 [ dbSNP | Ensembl ].
VAR_048483
Natural varianti3720 – 37201S → P.
Corresponds to variant rs11584340 [ dbSNP | Ensembl ].
VAR_048484
Natural varianti3739 – 37391H → Y.
Corresponds to variant rs7512553 [ dbSNP | Ensembl ].
VAR_048485
Natural varianti3751 – 37511S → Y.
Corresponds to variant rs11204978 [ dbSNP | Ensembl ].
VAR_048486
Natural varianti3760 – 37601G → A.
Corresponds to variant rs2065955 [ dbSNP | Ensembl ].
VAR_048487
Natural varianti3761 – 37611H → Q.
Corresponds to variant rs12073613 [ dbSNP | Ensembl ].
VAR_048488
Natural varianti3814 – 38141R → C.
Corresponds to variant rs146212122 [ dbSNP | Ensembl ].
VAR_048489
Natural varianti3827 – 38271G → W.
Corresponds to variant rs140464988 [ dbSNP | Ensembl ].
VAR_048490
Natural varianti3908 – 39081D → N.
Corresponds to variant rs3814300 [ dbSNP | Ensembl ].
VAR_048491
Natural varianti3935 – 39351S → P.
Corresponds to variant rs3126065 [ dbSNP | Ensembl ].
VAR_048492
Natural varianti3970 – 39701S → L.
Corresponds to variant rs3814299 [ dbSNP | Ensembl ].
VAR_048493

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL356504 Genomic DNA. Translation: CAI19595.1.
L01089 Genomic DNA. Translation: AAA60177.1.
M24355 mRNA. Translation: AAA52454.1.
CCDSiCCDS30860.1.
PIRiA32947.
A45135.
A48118.
RefSeqiNP_002007.1. NM_002016.1.
UniGeneiHs.654510.

Genome annotation databases

EnsembliENST00000368799; ENSP00000357789; ENSG00000143631.
GeneIDi2312.
KEGGihsa:2312.
UCSCiuc001ezu.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL356504 Genomic DNA. Translation: CAI19595.1.
L01089 Genomic DNA. Translation: AAA60177.1.
M24355 mRNA. Translation: AAA52454.1.
CCDSiCCDS30860.1.
PIRiA32947.
A45135.
A48118.
RefSeqiNP_002007.1. NM_002016.1.
UniGeneiHs.654510.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4PCWX-ray2.20A/B/C/D1-92[»]
ProteinModelPortaliP20930.
SMRiP20930. Positions 2-92.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108601. 19 interactions.
IntActiP20930. 6 interactions.
STRINGi9606.ENSP00000357789.

PTM databases

iPTMnetiP20930.
PhosphoSiteiP20930.

Polymorphism and mutation databases

BioMutaiFLG.
DMDMi84028206.

Proteomic databases

EPDiP20930.
MaxQBiP20930.
PaxDbiP20930.
PeptideAtlasiP20930.
PRIDEiP20930.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368799; ENSP00000357789; ENSG00000143631.
GeneIDi2312.
KEGGihsa:2312.
UCSCiuc001ezu.1. human.

Organism-specific databases

CTDi2312.
GeneCardsiFLG.
H-InvDBHIX0022704.
HGNCiHGNC:3748. FLG.
HPAiCAB002210.
HPA030188.
HPA030189.
MalaCardsiFLG.
MIMi135940. gene.
146700. phenotype.
605803. phenotype.
neXtProtiNX_P20930.
Orphaneti462. Autosomal dominant ichthyosis vulgaris.
PharmGKBiPA28169.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IX7U. Eukaryota.
ENOG410ZH9F. LUCA.
GeneTreeiENSGT00530000063634.
HOGENOMiHOG000112591.
InParanoidiP20930.
OMAiQDTIRGH.
OrthoDBiEOG7ZWD1D.
PhylomeDBiP20930.
TreeFamiTF338665.

Miscellaneous databases

GeneWikiiFilaggrin.
GenomeRNAii2312.
PROiP20930.
SOURCEiSearch...

Gene expression databases

BgeeiP20930.
CleanExiHS_FLG.
GenevisibleiP20930. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR003303. Filaggrin.
IPR001751. S100/CaBP-9k_CS.
IPR013787. S100_Ca-bd_sub.
[Graphical view]
PfamiPF03516. Filaggrin. 23 hits.
PF01023. S_100. 1 hit.
[Graphical view]
PRINTSiPR00487. FILAGGRIN.
SMARTiSM01394. S_100. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
PS00303. S100_CABP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Characterization of the human epidermal profilaggrin gene. Genomic organization and identification of an S-100-like calcium binding domain at the amino terminus."
    Presland R.B., Haydock P.V., Fleckman P., Nirunsuksiri W., Dale B.A.
    J. Biol. Chem. 267:23772-23781(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-591, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
  3. "Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21."
    McKinley-Grant L.J., Idler W.W., Bernstein I.A., Parry D.A.D., Cannizzaro L., Croce C.M., Huebner K., Lessin S.R., Steinert P.M.
    Proc. Natl. Acad. Sci. U.S.A. 86:4848-4852(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2389-2804.
  4. "Identification of the amino terminus of human filaggrin using differential LC/MS techniques: implications for profilaggrin processing."
    Thulin C.D., Walsh K.A.
    Biochemistry 34:8687-8692(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 2741-2760 AND 3065-3084, N-TERMINAL PROCESSING.
    Tissue: Foreskin.
  5. "Human basal tear peptidome characterization by CID, HCD, and ETD followed by in silico and in vitro analyses for antimicrobial peptide identification."
    Azkargorta M., Soria J., Ojeda C., Guzman F., Acera A., Iloro I., Suarez T., Elortza F.
    J. Proteome Res. 14:2649-2658(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 796-823; 2741-2760 AND 3065-3084, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Tear.
  6. "Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis."
    Senshu T., Kan S., Ogawa H., Manabe M., Asaga H.
    Biochem. Biophys. Res. Commun. 225:712-719(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: CITRULLINATION.
  7. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ATOD2.
  8. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ATOD2.
  9. Cited for: INVOLVEMENT IN ICHTHYOSIS VULGARIS.
  10. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ATOD2.
  11. "Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis."
    Nomura T., Sandilands A., Akiyama M., Liao H., Evans A.T., Sakai K., Ota M., Sugiura H., Yamamoto K., Sato H., Palmer C.N.A., Smith F.J.D., McLean W.H.I., Shimizu H.
    J. Allergy Clin. Immunol. 119:434-440(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ATOD2.
  12. "Molecular identification and expression analysis of filaggrin-2, a member of the S100 fused-type protein family."
    Wu Z., Hansmann B., Meyer-Hoffert U., Glaser R., Schroder J.M.
    PLoS ONE 4:E5227-E5227(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, INDUCTION BY CALCIUM.
  13. Cited for: SUBCELLULAR LOCATION.
  14. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiFILA_HUMAN
AccessioniPrimary (citable) accession number: P20930
Secondary accession number(s): Q01720, Q5T583, Q9UC71
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: December 20, 2005
Last modified: June 8, 2016
This is version 144 of the entry and version 3 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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.