Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P03951

- FA11_HUMAN

UniProt

P03951 - FA11_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Coagulation factor XI

Gene

F11

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

Functioni

Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.

Catalytic activityi

Selective cleavage of Arg-|-Ala and Arg-|-Val bonds in factor IX to form factor IXa.

Enzyme regulationi

Inhibited by SERPINA5.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei431 – 4311Charge relay system
Active sitei480 – 4801Charge relay system
Active sitei575 – 5751Charge relay system

GO - Molecular functioni

  1. heparin binding Source: UniProtKB-KW
  2. serine-type aminopeptidase activity Source: Ensembl
  3. serine-type endopeptidase activity Source: UniProtKB

GO - Biological processi

  1. blood coagulation Source: UniProtKB
  2. blood coagulation, intrinsic pathway Source: Reactome
  3. plasminogen activation Source: BHF-UCL
  4. positive regulation of fibrinolysis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Serine protease

Keywords - Biological processi

Blood coagulation, Hemostasis

Keywords - Ligandi

Heparin-binding

Enzyme and pathway databases

ReactomeiREACT_326. Intrinsic Pathway.

Protein family/group databases

MEROPSiS01.213.

Names & Taxonomyi

Protein namesi
Recommended name:
Coagulation factor XI (EC:3.4.21.27)
Short name:
FXI
Alternative name(s):
Plasma thromboplastin antecedent
Short name:
PTA
Cleaved into the following 2 chains:
Gene namesi
Name:F11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:3529. F11.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: UniProtKB
  2. extracellular space Source: BHF-UCL
  3. extracellular vesicular exosome Source: UniProt
  4. membrane Source: UniProtKB
  5. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Factor XI deficiency (FA11D) [MIM:612416]: A hemorrhagic disease characterized by reduced levels and activity of factor XI resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Patients usually do not present spontaneous bleeding but women can present with menorrhagia. Hemorrhages are usually moderate.20 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321G → R in FA11D. 1 Publication
Corresponds to variant rs281875259 [ dbSNP | Ensembl ].
VAR_067929
Natural varianti34 – 341D → H in FA11D. 1 Publication
Corresponds to variant rs281875267 [ dbSNP | Ensembl ].
VAR_012085
Natural varianti43 – 431A → T in FA11D; dominant-negative mutation that results in severely decreased protein secretion. 1 Publication
Corresponds to variant rs281875264 [ dbSNP | Ensembl ].
VAR_067930
Natural varianti46 – 461C → F in FA11D. 1 Publication
Corresponds to variant rs281875271 [ dbSNP | Ensembl ].
VAR_054894
Natural varianti51 – 511T → I in FA11D. 1 Publication
Corresponds to variant rs281875252 [ dbSNP | Ensembl ].
VAR_067931
Natural varianti51 – 511T → P in FA11D. 2 Publications
Corresponds to variant rs281875243 [ dbSNP | Ensembl ].
VAR_067932
Natural varianti53 – 531H → Q in FA11D. 1 Publication
Corresponds to variant rs281875261 [ dbSNP | Ensembl ].
VAR_067933
Natural varianti56 – 561C → R in FA11D; secretion of the mutant protein is impaired. 2 Publications
Corresponds to variant rs121965069 [ dbSNP | Ensembl ].
VAR_054895
Natural varianti63 – 631A → V in FA11D. 1 Publication
Corresponds to variant rs281875244 [ dbSNP | Ensembl ].
VAR_067934
Natural varianti101 – 1011K → R in FA11D. 1 Publication
Corresponds to variant rs281875272 [ dbSNP | Ensembl ].
VAR_054896
Natural varianti140 – 1401C → Y in FA11D. 1 Publication
Corresponds to variant rs281875256 [ dbSNP | Ensembl ].
VAR_067935
Natural varianti151 – 1511Y → C in FA11D. 1 Publication
Corresponds to variant rs281875273 [ dbSNP | Ensembl ].
VAR_054897
Natural varianti222 – 2221D → Y in FA11D. 1 Publication
Corresponds to variant rs281875245 [ dbSNP | Ensembl ].
VAR_067936
Natural varianti228 – 2281R → Q in FA11D. 1 Publication
Corresponds to variant rs281875246 [ dbSNP | Ensembl ].
VAR_067937
Natural varianti241 – 2411F → L in FA11D; dominant-negative mutation that results in severely decreased protein secretion. 1 Publication
Corresponds to variant rs281875265 [ dbSNP | Ensembl ].
VAR_067938
Natural varianti246 – 2461W → C in FA11D. 1 Publication
Corresponds to variant rs281875279 [ dbSNP | Ensembl ].
VAR_012086
Natural varianti252 – 2521R → T in FA11D. 1 Publication
Corresponds to variant rs281875260 [ dbSNP | Ensembl ].
VAR_067939
Natural varianti255 – 2551C → Y in FA11D; secretion of the mutant protein is impaired. 1 Publication
Corresponds to variant rs281875277 [ dbSNP | Ensembl ].
VAR_054898
Natural varianti263 – 2631G → E in FA11D. 1 Publication
Corresponds to variant rs281875274 [ dbSNP | Ensembl ].
VAR_054899
Natural varianti266 – 2661S → N in FA11D. 1 Publication
Corresponds to variant rs145168351 [ dbSNP | Ensembl ].
VAR_012087
Natural varianti270 – 2701K → I in FA11D; although the mutant protein is synthesized the secretion is reduced. 1 Publication
Corresponds to variant rs121965070 [ dbSNP | Ensembl ].
VAR_054900
Natural varianti276 – 2761S → C in FA11D. 1 Publication
Corresponds to variant rs281875247 [ dbSNP | Ensembl ].
VAR_067940
Natural varianti277 – 2771G → D in FA11D. 1 Publication
Corresponds to variant rs281875248 [ dbSNP | Ensembl ].
VAR_067941
Natural varianti301 – 3011F → L in FA11D. 2 Publications
Corresponds to variant rs121965064 [ dbSNP | Ensembl ].
VAR_006622
Natural varianti315 – 3151E → K in FA11D. 1 Publication
Corresponds to variant rs281875257 [ dbSNP | Ensembl ].
VAR_067942
Natural varianti320 – 3201L → P in FA11D. 1 Publication
Corresponds to variant rs281875268 [ dbSNP | Ensembl ].
VAR_012088
Natural varianti322 – 3221T → I in FA11D. 1 Publication
Corresponds to variant rs281875269 [ dbSNP | Ensembl ].
VAR_012089
Natural varianti326 – 3261R → C in FA11D. 1 Publication
Corresponds to variant rs28934608 [ dbSNP | Ensembl ].
VAR_012090
Natural varianti331 – 3311T → I in FA11D. 1 Publication
Corresponds to variant rs281875253 [ dbSNP | Ensembl ].
VAR_067943
Natural varianti341 – 3411E → K in FA11D. 1 Publication
Corresponds to variant rs281875270 [ dbSNP | Ensembl ].
VAR_012091
Natural varianti360 – 3601L → P in FA11D. 1 Publication
Corresponds to variant rs281875254 [ dbSNP | Ensembl ].
VAR_067944
Natural varianti401 – 4011W → R in FA11D. 1 Publication
Corresponds to variant rs281875262 [ dbSNP | Ensembl ].
VAR_067945
Natural varianti403 – 4031V → M in FA11D; dominant-negative mutation that results in severely decreased protein secretion. 1 Publication
Corresponds to variant rs281875266 [ dbSNP | Ensembl ].
VAR_067946
Natural varianti404 – 4041T → N in FA11D. 1 Publication
Corresponds to variant rs121965067 [ dbSNP | Ensembl ].
VAR_012092
Natural varianti418 – 4181G → V in FA11D; mutant is not secreted by transfected fibroblasts; dominant-negative effect. 1 Publication
Corresponds to variant rs121965071 [ dbSNP | Ensembl ].
VAR_054901
Natural varianti430 – 4301A → V in FA11D. 1 Publication
Corresponds to variant rs121965068 [ dbSNP | Ensembl ].
VAR_012093
Natural varianti454 – 4541I → K in FA11D. 1 Publication
Corresponds to variant rs281875241 [ dbSNP | Ensembl ].
VAR_067947
Natural varianti460 – 4601F → V in FA11D. 1 Publication
Corresponds to variant rs121965065 [ dbSNP | Ensembl ].
VAR_012094
Natural varianti481 – 4811I → S in FA11D. 1 Publication
Corresponds to variant rs281875242 [ dbSNP | Ensembl ].
VAR_067948
Natural varianti493 – 4931T → I in FA11D. 1 Publication
VAR_012095
Natural varianti503 – 5031S → P in FA11D. 1 Publication
Corresponds to variant rs140068026 [ dbSNP | Ensembl ].
VAR_067949
Natural varianti506 – 5061D → G in FA11D; mild phenotype. 1 Publication
Corresponds to variant rs281875258 [ dbSNP | Ensembl ].
VAR_067950
Natural varianti511 – 5111Y → H in FA11D; transfected cells contain reduced amount of mutant protein and display decreased secretion. 1 Publication
Corresponds to variant rs281875278 [ dbSNP | Ensembl ].
VAR_054902
Natural varianti514 – 5141C → F in FA11D. 1 Publication
Corresponds to variant rs281875249 [ dbSNP | Ensembl ].
VAR_067951
Natural varianti526 – 5261D → E in FA11D. 1 Publication
Corresponds to variant rs281875263 [ dbSNP | Ensembl ].
VAR_067952
Natural varianti538 – 5381P → L in FA11D. 1 Publication
Corresponds to variant rs139695003 [ dbSNP | Ensembl ].
VAR_054903
Natural varianti565 – 5651E → K in FA11D. 1 Publication
Corresponds to variant rs281875275 [ dbSNP | Ensembl ].
VAR_054904
Natural varianti575 – 5751S → L in FA11D. 1 Publication
Corresponds to variant rs281875250 [ dbSNP | Ensembl ].
VAR_067953
Natural varianti587 – 5871W → S in FA11D; mutant is not secreted by transfected fibroblasts; dominant-negative effect. 1 Publication
Corresponds to variant rs121965072 [ dbSNP | Ensembl ].
VAR_054905
Natural varianti594 – 5941S → R in FA11D. 1 Publication
Corresponds to variant rs28934609 [ dbSNP | Ensembl ].
VAR_012096
Natural varianti597 – 5971E → K in FA11D. 2 Publications
Corresponds to variant rs281875251 [ dbSNP | Ensembl ].
VAR_067954
Natural varianti608 – 6081Y → H in FA11D. 1 Publication
Corresponds to variant rs281875255 [ dbSNP | Ensembl ].
VAR_067955
Natural varianti618 – 6181I → S in FA11D. 1 Publication
Corresponds to variant rs281875276 [ dbSNP | Ensembl ].
VAR_054906

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi612416. phenotype.
Orphaneti329. Congenital factor XI deficiency.
PharmGKBiPA27941.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Add
BLAST
Chaini19 – 387369Coagulation factor XIa heavy chainPRO_0000027825Add
BLAST
Chaini388 – 625238Coagulation factor XIa light chainPRO_0000027826Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi20 ↔ 103Sequence Analysis
Disulfide bondi29 – 29Interchain
Disulfide bondi46 ↔ 761 Publication
Disulfide bondi50 ↔ 561 Publication
Glycosylationi90 – 901N-linked (GlcNAc...)
Disulfide bondi110 ↔ 1931 Publication
Glycosylationi126 – 1261N-linked (GlcNAc...)1 Publication
Disulfide bondi136 ↔ 1651 Publication
Disulfide bondi140 ↔ 1461 Publication
Disulfide bondi200 ↔ 283
Disulfide bondi226 ↔ 2551 Publication
Disulfide bondi230 ↔ 2361 Publication
Disulfide bondi291 ↔ 3741 Publication
Disulfide bondi317 ↔ 3461 Publication
Disulfide bondi321 ↔ 3271 Publication
Disulfide bondi339 – 339InterchainSequence Analysis
Glycosylationi353 – 3531N-linked (GlcNAc...)
Disulfide bondi380 ↔ 500Interchain (between heavy and light chains)
Disulfide bondi416 ↔ 4321 Publication
Glycosylationi450 – 4501N-linked (GlcNAc...)2 Publications
Glycosylationi491 – 4911N-linked (GlcNAc...)3 Publications
Disulfide bondi514 ↔ 581
Disulfide bondi545 ↔ 5601 Publication
Disulfide bondi571 ↔ 599

Post-translational modificationi

Activated by factor XIIa (or XII), which cleaves each polypeptide after Arg-387 into the light chain, which contains the active site, and the heavy chain, which associates with high molecular weight (HMW) kininogen.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP03951.
PeptideAtlasiP03951.
PRIDEiP03951.

PTM databases

PhosphoSiteiP03951.

Miscellaneous databases

PMAP-CutDBP03951.

Expressioni

Tissue specificityi

Isoform 2 is produced by platelets and megakaryocytes but absent from other blood cells.

Gene expression databases

BgeeiP03951.
CleanExiHS_F11.
ExpressionAtlasiP03951. baseline and differential.
GenevestigatoriP03951.

Interactioni

Subunit structurei

Homodimer; disulfide-linked. Forms a heterodimer with SERPINA5. After activation the heavy and light chains are also linked by a disulfide bond.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ecoP238273EBI-1041019,EBI-1029159From a different organism.

Protein-protein interaction databases

BioGridi108458. 3 interactions.
DIPiDIP-29085N.
IntActiP03951. 1 interaction.
STRINGi9606.ENSP00000264691.

Structurei

Secondary structure

1
625
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi25 – 306
Beta strandi34 – 396
Helixi43 – 5210
Beta strandi53 – 553
Beta strandi58 – 625
Turni71 – 744
Beta strandi75 – 795
Helixi82 – 843
Beta strandi88 – 9811
Beta strandi115 – 1217
Beta strandi123 – 1297
Helixi133 – 1419
Beta strandi143 – 1453
Beta strandi147 – 1526
Beta strandi159 – 1613
Beta strandi164 – 1696
Beta strandi171 – 1744
Beta strandi176 – 18813
Turni191 – 1944
Beta strandi205 – 2095
Beta strandi212 – 2198
Helixi223 – 2319
Beta strandi237 – 2426
Helixi249 – 2513
Beta strandi254 – 2596
Beta strandi261 – 2644
Beta strandi269 – 27810
Helixi281 – 2833
Beta strandi294 – 2963
Beta strandi298 – 3025
Beta strandi304 – 31310
Helixi316 – 3238
Beta strandi329 – 3335
Turni337 – 3393
Beta strandi344 – 3507
Beta strandi352 – 3543
Beta strandi358 – 3636
Beta strandi366 – 3694
Helixi374 – 3763
Beta strandi390 – 3934
Beta strandi402 – 4076
Beta strandi409 – 4113
Beta strandi413 – 42210
Beta strandi425 – 4284
Helixi430 – 4334
Helixi439 – 4413
Beta strandi442 – 4454
Helixi451 – 4533
Beta strandi456 – 4583
Beta strandi461 – 4688
Helixi475 – 4773
Beta strandi482 – 4887
Beta strandi494 – 4963
Helixi504 – 5074
Beta strandi514 – 5196
Beta strandi522 – 5254
Beta strandi533 – 5364
Helixi542 – 5487
Turni549 – 5513
Beta strandi558 – 5614
Beta strandi578 – 5836
Beta strandi586 – 59510
Beta strandi597 – 6004
Beta strandi606 – 6105
Helixi611 – 6144
Helixi615 – 6228

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1XX9X-ray2.20A/B388-625[»]
1XXDX-ray2.91A/B388-625[»]
1XXFX-ray2.60A/B388-625[»]
1ZHMX-ray1.96A388-624[»]
1ZHPX-ray2.70A388-625[»]
1ZHRX-ray1.73A388-625[»]
1ZJDX-ray2.60A388-624[»]
1ZLRX-ray2.50A388-624[»]
1ZMJX-ray2.00A388-624[»]
1ZMLX-ray2.25A388-625[»]
1ZMNX-ray2.05A388-625[»]
1ZOMX-ray2.25A388-624[»]
1ZPBX-ray2.10A388-624[»]
1ZPCX-ray2.60A388-624[»]
1ZPZX-ray2.50A388-625[»]
1ZRKX-ray2.30A388-625[»]
1ZSJX-ray1.90A388-625[»]
1ZSKX-ray1.90A388-625[»]
1ZSLX-ray2.05A388-625[»]
1ZTJX-ray2.05A388-624[»]
1ZTKX-ray2.50A388-624[»]
1ZTLX-ray2.60A388-624[»]
2F83X-ray2.87A1-625[»]
2FDAX-ray2.00A388-625[»]
2J8JNMR-A/B290-379[»]
2J8LNMR-A/B290-379[»]
3BG8X-ray1.60A388-625[»]
3SORX-ray1.80A388-625[»]
3SOSX-ray2.58A388-625[»]
4NA7X-ray2.80A388-625[»]
4NA8X-ray2.30A388-625[»]
ProteinModelPortaliP03951.
SMRiP03951. Positions 20-624.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP03951.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini20 – 10384Apple 1PROSITE-ProRule annotationAdd
BLAST
Domaini110 – 19384Apple 2PROSITE-ProRule annotationAdd
BLAST
Domaini200 – 28384Apple 3PROSITE-ProRule annotationAdd
BLAST
Domaini291 – 37484Apple 4PROSITE-ProRule annotationAdd
BLAST
Domaini388 – 623236Peptidase S1PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni547 – 5504Heparin-binding

Sequence similaritiesi

Belongs to the peptidase S1 family. Plasma kallikrein subfamily.PROSITE-ProRule annotation
Contains 4 apple domains.PROSITE-ProRule annotation
Contains 1 peptidase S1 domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiCOG5640.
GeneTreeiENSGT00760000118962.
HOGENOMiHOG000112467.
HOVERGENiHBG000399.
InParanoidiP03951.
KOiK01323.
OMAiVWHLVGI.
OrthoDBiEOG75B84T.
PhylomeDBiP03951.
TreeFamiTF343687.

Family and domain databases

InterProiIPR000177. Apple.
IPR003014. PAN-1_domain.
IPR003609. Pan_app.
IPR001254. Peptidase_S1.
IPR018114. Peptidase_S1_AS.
IPR001314. Peptidase_S1A.
IPR009003. Trypsin-like_Pept_dom.
[Graphical view]
PfamiPF00024. PAN_1. 4 hits.
PF00089. Trypsin. 1 hit.
[Graphical view]
PRINTSiPR00005. APPLEDOMAIN.
PR00722. CHYMOTRYPSIN.
SMARTiSM00223. APPLE. 4 hits.
SM00020. Tryp_SPc. 1 hit.
[Graphical view]
SUPFAMiSSF50494. SSF50494. 1 hit.
PROSITEiPS00495. APPLE. 4 hits.
PS50948. PAN. 4 hits.
PS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P03951) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MIFLYQVVHF ILFTSVSGEC VTQLLKDTCF EGGDITTVFT PSAKYCQVVC
60 70 80 90 100
TYHPRCLLFT FTAESPSEDP TRWFTCVLKD SVTETLPRVN RTAAISGYSF
110 120 130 140 150
KQCSHQISAC NKDIYVDLDM KGINYNSSVA KSAQECQERC TDDVHCHFFT
160 170 180 190 200
YATRQFPSLE HRNICLLKHT QTGTPTRITK LDKVVSGFSL KSCALSNLAC
210 220 230 240 250
IRDIFPNTVF ADSNIDSVMA PDAFVCGRIC THHPGCLFFT FFSQEWPKES
260 270 280 290 300
QRNLCLLKTS ESGLPSTRIK KSKALSGFSL QSCRHSIPVF CHSSFYHDTD
310 320 330 340 350
FLGEELDIVA AKSHEACQKL CTNAVRCQFF TYTPAQASCN EGKGKCYLKL
360 370 380 390 400
SSNGSPTKIL HGRGGISGYT LRLCKMDNEC TTKIKPRIVG GTASVRGEWP
410 420 430 440 450
WQVTLHTTSP TQRHLCGGSI IGNQWILTAA HCFYGVESPK ILRVYSGILN
460 470 480 490 500
QSEIKEDTSF FGVQEIIIHD QYKMAESGYD IALLKLETTV NYTDSQRPIC
510 520 530 540 550
LPSKGDRNVI YTDCWVTGWG YRKLRDKIQN TLQKAKIPLV TNEECQKRYR
560 570 580 590 600
GHKITHKMIC AGYREGGKDA CKGDSGGPLS CKHNEVWHLV GITSWGEGCA
610 620
QRERPGVYTN VVEYVDWILE KTQAV
Length:625
Mass (Da):70,109
Last modified:October 23, 1986 - v1
Checksum:i147AFA94B7709E8F
GO
Isoform 2 (identifier: P03951-2) [UniParc]FASTAAdd to Basket

Also known as: Platelet

The sequence of this isoform differs from the canonical sequence as follows:
     109-162: Missing.

Show »
Length:571
Mass (Da):63,840
Checksum:iFB9D65D72151755E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti226 – 2261C → S in AAA51985. (PubMed:2827746)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321G → R in FA11D. 1 Publication
Corresponds to variant rs281875259 [ dbSNP | Ensembl ].
VAR_067929
Natural varianti34 – 341D → H in FA11D. 1 Publication
Corresponds to variant rs281875267 [ dbSNP | Ensembl ].
VAR_012085
Natural varianti43 – 431A → T in FA11D; dominant-negative mutation that results in severely decreased protein secretion. 1 Publication
Corresponds to variant rs281875264 [ dbSNP | Ensembl ].
VAR_067930
Natural varianti46 – 461C → F in FA11D. 1 Publication
Corresponds to variant rs281875271 [ dbSNP | Ensembl ].
VAR_054894
Natural varianti51 – 511T → I in FA11D. 1 Publication
Corresponds to variant rs281875252 [ dbSNP | Ensembl ].
VAR_067931
Natural varianti51 – 511T → P in FA11D. 2 Publications
Corresponds to variant rs281875243 [ dbSNP | Ensembl ].
VAR_067932
Natural varianti53 – 531H → Q in FA11D. 1 Publication
Corresponds to variant rs281875261 [ dbSNP | Ensembl ].
VAR_067933
Natural varianti56 – 561C → R in FA11D; secretion of the mutant protein is impaired. 2 Publications
Corresponds to variant rs121965069 [ dbSNP | Ensembl ].
VAR_054895
Natural varianti63 – 631A → V in FA11D. 1 Publication
Corresponds to variant rs281875244 [ dbSNP | Ensembl ].
VAR_067934
Natural varianti66 – 661P → L.1 Publication
Corresponds to variant rs5968 [ dbSNP | Ensembl ].
VAR_011774
Natural varianti101 – 1011K → R in FA11D. 1 Publication
Corresponds to variant rs281875272 [ dbSNP | Ensembl ].
VAR_054896
Natural varianti140 – 1401C → Y in FA11D. 1 Publication
Corresponds to variant rs281875256 [ dbSNP | Ensembl ].
VAR_067935
Natural varianti151 – 1511Y → C in FA11D. 1 Publication
Corresponds to variant rs281875273 [ dbSNP | Ensembl ].
VAR_054897
Natural varianti222 – 2221D → Y in FA11D. 1 Publication
Corresponds to variant rs281875245 [ dbSNP | Ensembl ].
VAR_067936
Natural varianti228 – 2281R → Q in FA11D. 1 Publication
Corresponds to variant rs281875246 [ dbSNP | Ensembl ].
VAR_067937
Natural varianti241 – 2411F → L in FA11D; dominant-negative mutation that results in severely decreased protein secretion. 1 Publication
Corresponds to variant rs281875265 [ dbSNP | Ensembl ].
VAR_067938
Natural varianti244 – 2441Q → R Found in a patient with factor XI deficiency that also carries mutation N-266. 2 Publications
Corresponds to variant rs5969 [ dbSNP | Ensembl ].
VAR_011775
Natural varianti246 – 2461W → C in FA11D. 1 Publication
Corresponds to variant rs281875279 [ dbSNP | Ensembl ].
VAR_012086
Natural varianti252 – 2521R → T in FA11D. 1 Publication
Corresponds to variant rs281875260 [ dbSNP | Ensembl ].
VAR_067939
Natural varianti255 – 2551C → Y in FA11D; secretion of the mutant protein is impaired. 1 Publication
Corresponds to variant rs281875277 [ dbSNP | Ensembl ].
VAR_054898
Natural varianti263 – 2631G → E in FA11D. 1 Publication
Corresponds to variant rs281875274 [ dbSNP | Ensembl ].
VAR_054899
Natural varianti266 – 2661S → N in FA11D. 1 Publication
Corresponds to variant rs145168351 [ dbSNP | Ensembl ].
VAR_012087
Natural varianti270 – 2701K → I in FA11D; although the mutant protein is synthesized the secretion is reduced. 1 Publication
Corresponds to variant rs121965070 [ dbSNP | Ensembl ].
VAR_054900
Natural varianti276 – 2761S → C in FA11D. 1 Publication
Corresponds to variant rs281875247 [ dbSNP | Ensembl ].
VAR_067940
Natural varianti277 – 2771G → D in FA11D. 1 Publication
Corresponds to variant rs281875248 [ dbSNP | Ensembl ].
VAR_067941
Natural varianti301 – 3011F → L in FA11D. 2 Publications
Corresponds to variant rs121965064 [ dbSNP | Ensembl ].
VAR_006622
Natural varianti308 – 3081I → F.1 Publication
Corresponds to variant rs5972 [ dbSNP | Ensembl ].
VAR_011776
Natural varianti315 – 3151E → K in FA11D. 1 Publication
Corresponds to variant rs281875257 [ dbSNP | Ensembl ].
VAR_067942
Natural varianti320 – 3201L → P in FA11D. 1 Publication
Corresponds to variant rs281875268 [ dbSNP | Ensembl ].
VAR_012088
Natural varianti322 – 3221T → I in FA11D. 1 Publication
Corresponds to variant rs281875269 [ dbSNP | Ensembl ].
VAR_012089
Natural varianti326 – 3261R → C in FA11D. 1 Publication
Corresponds to variant rs28934608 [ dbSNP | Ensembl ].
VAR_012090
Natural varianti331 – 3311T → I in FA11D. 1 Publication
Corresponds to variant rs281875253 [ dbSNP | Ensembl ].
VAR_067943
Natural varianti339 – 3391C → F.3 Publications
Corresponds to variant rs5967 [ dbSNP | Ensembl ].
VAR_011777
Natural varianti341 – 3411E → K in FA11D. 1 Publication
Corresponds to variant rs281875270 [ dbSNP | Ensembl ].
VAR_012091
Natural varianti360 – 3601L → P in FA11D. 1 Publication
Corresponds to variant rs281875254 [ dbSNP | Ensembl ].
VAR_067944
Natural varianti399 – 3991W → R.
Corresponds to variant rs1800439 [ dbSNP | Ensembl ].
VAR_011778
Natural varianti401 – 4011W → R in FA11D. 1 Publication
Corresponds to variant rs281875262 [ dbSNP | Ensembl ].
VAR_067945
Natural varianti403 – 4031V → M in FA11D; dominant-negative mutation that results in severely decreased protein secretion. 1 Publication
Corresponds to variant rs281875266 [ dbSNP | Ensembl ].
VAR_067946
Natural varianti404 – 4041T → N in FA11D. 1 Publication
Corresponds to variant rs121965067 [ dbSNP | Ensembl ].
VAR_012092
Natural varianti418 – 4181G → V in FA11D; mutant is not secreted by transfected fibroblasts; dominant-negative effect. 1 Publication
Corresponds to variant rs121965071 [ dbSNP | Ensembl ].
VAR_054901
Natural varianti430 – 4301A → V in FA11D. 1 Publication
Corresponds to variant rs121965068 [ dbSNP | Ensembl ].
VAR_012093
Natural varianti454 – 4541I → K in FA11D. 1 Publication
Corresponds to variant rs281875241 [ dbSNP | Ensembl ].
VAR_067947
Natural varianti460 – 4601F → V in FA11D. 1 Publication
Corresponds to variant rs121965065 [ dbSNP | Ensembl ].
VAR_012094
Natural varianti481 – 4811I → S in FA11D. 1 Publication
Corresponds to variant rs281875242 [ dbSNP | Ensembl ].
VAR_067948
Natural varianti493 – 4931T → I in FA11D. 1 Publication
VAR_012095
Natural varianti503 – 5031S → P in FA11D. 1 Publication
Corresponds to variant rs140068026 [ dbSNP | Ensembl ].
VAR_067949
Natural varianti506 – 5061D → G in FA11D; mild phenotype. 1 Publication
Corresponds to variant rs281875258 [ dbSNP | Ensembl ].
VAR_067950
Natural varianti511 – 5111Y → H in FA11D; transfected cells contain reduced amount of mutant protein and display decreased secretion. 1 Publication
Corresponds to variant rs281875278 [ dbSNP | Ensembl ].
VAR_054902
Natural varianti514 – 5141C → F in FA11D. 1 Publication
Corresponds to variant rs281875249 [ dbSNP | Ensembl ].
VAR_067951
Natural varianti526 – 5261D → E in FA11D. 1 Publication
Corresponds to variant rs281875263 [ dbSNP | Ensembl ].
VAR_067952
Natural varianti538 – 5381P → L in FA11D. 1 Publication
Corresponds to variant rs139695003 [ dbSNP | Ensembl ].
VAR_054903
Natural varianti565 – 5651E → K in FA11D. 1 Publication
Corresponds to variant rs281875275 [ dbSNP | Ensembl ].
VAR_054904
Natural varianti575 – 5751S → L in FA11D. 1 Publication
Corresponds to variant rs281875250 [ dbSNP | Ensembl ].
VAR_067953
Natural varianti587 – 5871W → S in FA11D; mutant is not secreted by transfected fibroblasts; dominant-negative effect. 1 Publication
Corresponds to variant rs121965072 [ dbSNP | Ensembl ].
VAR_054905
Natural varianti594 – 5941S → R in FA11D. 1 Publication
Corresponds to variant rs28934609 [ dbSNP | Ensembl ].
VAR_012096
Natural varianti597 – 5971E → K in FA11D. 2 Publications
Corresponds to variant rs281875251 [ dbSNP | Ensembl ].
VAR_067954
Natural varianti608 – 6081Y → H in FA11D. 1 Publication
Corresponds to variant rs281875255 [ dbSNP | Ensembl ].
VAR_067955
Natural varianti618 – 6181I → S in FA11D. 1 Publication
Corresponds to variant rs281875276 [ dbSNP | Ensembl ].
VAR_054906

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei109 – 16254Missing in isoform 2. 1 PublicationVSP_005388Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M13142 mRNA. Translation: AAA52487.1.
M20218
, M18296, M21184, M18298, M18299, M18300, M18301, M18302, M18303, M18304, M19417, M20217 Genomic DNA. Translation: AAA51985.1.
AF045649 mRNA. Translation: AAC24506.1.
AY191837 Genomic DNA. Translation: AAN85554.1.
AC110771 Genomic DNA. Translation: AAY40901.1.
CH471056 Genomic DNA. Translation: EAX04621.1.
BC119014 mRNA. Translation: AAI19015.1.
BC122863 mRNA. Translation: AAI22864.1.
CCDSiCCDS3847.1. [P03951-1]
PIRiA27431. KFHU1.
RefSeqiNP_000119.1. NM_000128.3. [P03951-1]
UniGeneiHs.1430.

Genome annotation databases

EnsembliENST00000264692; ENSP00000264692; ENSG00000088926. [P03951-2]
ENST00000403665; ENSP00000384957; ENSG00000088926. [P03951-1]
GeneIDi2160.
KEGGihsa:2160.
UCSCiuc003iza.1. human. [P03951-1]

Polymorphism databases

DMDMi119762.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Factor XI entry

SeattleSNPs
Mendelian genes Coagulation factor XI (F11)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M13142 mRNA. Translation: AAA52487.1 .
M20218
, M18296 , M21184 , M18298 , M18299 , M18300 , M18301 , M18302 , M18303 , M18304 , M19417 , M20217 Genomic DNA. Translation: AAA51985.1 .
AF045649 mRNA. Translation: AAC24506.1 .
AY191837 Genomic DNA. Translation: AAN85554.1 .
AC110771 Genomic DNA. Translation: AAY40901.1 .
CH471056 Genomic DNA. Translation: EAX04621.1 .
BC119014 mRNA. Translation: AAI19015.1 .
BC122863 mRNA. Translation: AAI22864.1 .
CCDSi CCDS3847.1. [P03951-1 ]
PIRi A27431. KFHU1.
RefSeqi NP_000119.1. NM_000128.3. [P03951-1 ]
UniGenei Hs.1430.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1XX9 X-ray 2.20 A/B 388-625 [» ]
1XXD X-ray 2.91 A/B 388-625 [» ]
1XXF X-ray 2.60 A/B 388-625 [» ]
1ZHM X-ray 1.96 A 388-624 [» ]
1ZHP X-ray 2.70 A 388-625 [» ]
1ZHR X-ray 1.73 A 388-625 [» ]
1ZJD X-ray 2.60 A 388-624 [» ]
1ZLR X-ray 2.50 A 388-624 [» ]
1ZMJ X-ray 2.00 A 388-624 [» ]
1ZML X-ray 2.25 A 388-625 [» ]
1ZMN X-ray 2.05 A 388-625 [» ]
1ZOM X-ray 2.25 A 388-624 [» ]
1ZPB X-ray 2.10 A 388-624 [» ]
1ZPC X-ray 2.60 A 388-624 [» ]
1ZPZ X-ray 2.50 A 388-625 [» ]
1ZRK X-ray 2.30 A 388-625 [» ]
1ZSJ X-ray 1.90 A 388-625 [» ]
1ZSK X-ray 1.90 A 388-625 [» ]
1ZSL X-ray 2.05 A 388-625 [» ]
1ZTJ X-ray 2.05 A 388-624 [» ]
1ZTK X-ray 2.50 A 388-624 [» ]
1ZTL X-ray 2.60 A 388-624 [» ]
2F83 X-ray 2.87 A 1-625 [» ]
2FDA X-ray 2.00 A 388-625 [» ]
2J8J NMR - A/B 290-379 [» ]
2J8L NMR - A/B 290-379 [» ]
3BG8 X-ray 1.60 A 388-625 [» ]
3SOR X-ray 1.80 A 388-625 [» ]
3SOS X-ray 2.58 A 388-625 [» ]
4NA7 X-ray 2.80 A 388-625 [» ]
4NA8 X-ray 2.30 A 388-625 [» ]
ProteinModelPortali P03951.
SMRi P03951. Positions 20-624.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108458. 3 interactions.
DIPi DIP-29085N.
IntActi P03951. 1 interaction.
STRINGi 9606.ENSP00000264691.

Chemistry

BindingDBi P03951.
ChEMBLi CHEMBL2820.
DrugBanki DB00100. Coagulation Factor IX.
GuidetoPHARMACOLOGYi 2360.

Protein family/group databases

MEROPSi S01.213.

PTM databases

PhosphoSitei P03951.

Polymorphism databases

DMDMi 119762.

Proteomic databases

PaxDbi P03951.
PeptideAtlasi P03951.
PRIDEi P03951.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264692 ; ENSP00000264692 ; ENSG00000088926 . [P03951-2 ]
ENST00000403665 ; ENSP00000384957 ; ENSG00000088926 . [P03951-1 ]
GeneIDi 2160.
KEGGi hsa:2160.
UCSCi uc003iza.1. human. [P03951-1 ]

Organism-specific databases

CTDi 2160.
GeneCardsi GC04P187187.
HGNCi HGNC:3529. F11.
MIMi 264900. gene.
612416. phenotype.
neXtProti NX_P03951.
Orphaneti 329. Congenital factor XI deficiency.
PharmGKBi PA27941.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5640.
GeneTreei ENSGT00760000118962.
HOGENOMi HOG000112467.
HOVERGENi HBG000399.
InParanoidi P03951.
KOi K01323.
OMAi VWHLVGI.
OrthoDBi EOG75B84T.
PhylomeDBi P03951.
TreeFami TF343687.

Enzyme and pathway databases

Reactomei REACT_326. Intrinsic Pathway.

Miscellaneous databases

ChiTaRSi F11. human.
EvolutionaryTracei P03951.
GeneWikii Factor_XI.
GenomeRNAii 2160.
NextBioi 8727.
PMAP-CutDB P03951.
PROi P03951.
SOURCEi Search...

Gene expression databases

Bgeei P03951.
CleanExi HS_F11.
ExpressionAtlasi P03951. baseline and differential.
Genevestigatori P03951.

Family and domain databases

InterProi IPR000177. Apple.
IPR003014. PAN-1_domain.
IPR003609. Pan_app.
IPR001254. Peptidase_S1.
IPR018114. Peptidase_S1_AS.
IPR001314. Peptidase_S1A.
IPR009003. Trypsin-like_Pept_dom.
[Graphical view ]
Pfami PF00024. PAN_1. 4 hits.
PF00089. Trypsin. 1 hit.
[Graphical view ]
PRINTSi PR00005. APPLEDOMAIN.
PR00722. CHYMOTRYPSIN.
SMARTi SM00223. APPLE. 4 hits.
SM00020. Tryp_SPc. 1 hit.
[Graphical view ]
SUPFAMi SSF50494. SSF50494. 1 hit.
PROSITEi PS00495. APPLE. 4 hits.
PS50948. PAN. 4 hits.
PS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein."
    Fujikawa K., Chung D.W., Hendrickson L.E., Davie E.W.
    Biochemistry 25:2417-2424(1986) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Organization of the gene for human factor XI."
    Asakai R., Davie E.W., Chung D.W.
    Biochemistry 26:7221-7228(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
  3. "Molecular cloning of platelet factor XI, an alternative splicing product of the plasma factor XI gene."
    Hsu T.-C., Shore S.K., Seshsmma T., Bagasra O., Walsh P.N.
    J. Biol. Chem. 273:13787-13793(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  4. SeattleSNPs variation discovery resource
    Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PHE-339.
  5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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].
  8. "Location of the disulfide bonds in human coagulation factor XI: the presence of tandem apple domains."
    McMullen B.A., Fujikawa K., Davie E.W.
    Biochemistry 30:2056-2060(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL PROTEIN SEQUENCE, DISULFIDE BONDS.
  9. "Inactivation of human plasma kallikrein and factor XIa by protein C inhibitor."
    Meijers J.C., Kanters D.H., Vlooswijk R.A., van Erp H.E., Hessing M., Bouma B.N.
    Biochemistry 27:4231-4237(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: ENZYME REGULATION, HETERODIMER WITH SERPINA5.
  10. "Localization of a heparin binding site in the catalytic domain of factor XIa."
    Badellino K.O., Walsh P.N.
    Biochemistry 40:7569-7580(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: HEPARIN-BINDING SITE.
  11. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
    Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
    J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-126; ASN-450 AND ASN-491.
    Tissue: Plasma.
  12. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-450 AND ASN-491.
    Tissue: Liver.
  13. "Clavatadine A, a natural product with selective recognition and irreversible inhibition of factor XIa."
    Buchanan M.S., Carroll A.R., Wessling D., Jobling M., Avery V.M., Davis R.A., Feng Y., Xue Y., Oster L., Fex T., Deinum J., Hooper J.N., Quinn R.J.
    J. Med. Chem. 51:3583-3587(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 388-625 IN COMPLEX WITH INHIBITOR, DISULFIDE BONDS.
  14. "Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations."
    Asakai R., Chung D.W., Ratnoff O.D., Davie E.W.
    Proc. Natl. Acad. Sci. U.S.A. 86:7667-7671(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FA11D LEU-301.
  15. "Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency."
    Meijers J.C., Davie E.W., Chung D.W.
    Blood 79:1435-1440(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FA11D LEU-301.
  16. "Six point mutations that cause factor XI deficiency."
    Pugh R.E., McVey J.H., Tuddenham E.G., Hancock J.F.
    Blood 85:1509-1516(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FA11D HIS-34; PRO-320; ILE-322 AND LYS-341.
  17. "Identification of two novel mutations in non-Jewish factor XI deficiency."
    Imanaka Y., Lal K., Nishimura T., Bolton-Maggs P.H., Tuddenham E.G., McVey J.H.
    Br. J. Haematol. 90:916-920(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FA11D VAL-460.
  18. "Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11."
    Wistinghausen B., Reischer A., Oddoux C., Ostrer H., Nardi M., Karpatkin M.
    Br. J. Haematol. 99:575-577(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FA11D ASN-404.
  19. "Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting."
    Martincic D., Zimmerman S.A., Ware R.E., Sun M.-F., Whitlock J.A., Gailani D.
    Blood 92:3309-3317(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FA11D ASN-266, VARIANT ARG-244.
  20. "Identification of a novel mutation in a non-Jewish factor XI deficient kindred."
    Alhaq A., Mitchell M., Sethi M., Rahman S., Flynn G., Boulton P., Caeno G., Smith M., Savidge G.
    Br. J. Haematol. 104:44-49(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FA11D CYS-246.
  21. "Heterozygous factor XI deficiency associated with three novel mutations."
    Mitchell M., Cutler J., Thompson S., Moore G., Jenkins Ap Rees E., Smith M., Savidge G., Alhaq A.
    Br. J. Haematol. 107:763-765(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FA11D CYS-326; VAL-430 ILE-493 AND ARG-594.
  22. Cited for: VARIANTS LEU-66; ARG-244; PHE-308 AND PHE-339.
  23. "Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene."
    Zivelin A., Bauduer F., Ducout L., Peretz H., Rosenberg N., Yatuv R., Seligsohn U.
    Blood 99:2448-2454(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FA11D ARG-56; TYR-255 AND HIS-511, VARIANT PHE-339, CHARACTERIZATION OF VARIANTS FA11D ARG-56; TYR-255 AND HIS-511.
  24. "Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain."
    Kravtsov D.V., Wu W., Meijers J.C.M., Sun M.-F., Blinder M.A., Dang T.P., Wang H., Gailani D.
    Blood 104:128-134(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FA11D VAL-418 AND SER-587, CHARACTERIZATION OF VARIANTS FA11D VAL-418 AND SER-587.
  25. "Severe factor XI deficiency caused by compound heterozygosity."
    Dai L., Mitchell M., Carson P., Creagh D., Cutler J., Savidge G., Alhaq A.
    Br. J. Haematol. 125:817-818(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FA11D ILE-270, CHARACTERIZATION OF VARIANT F11 DEFICIENCY ILE-270.
  26. "Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion."
    Hill M., McLeod F., Franks H., Gordon B., Dolan G.
    Br. J. Haematol. 129:825-829(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FA11D PHE-46; ARG-101; CYS-151; GLU-263; VAL-430; LEU-538; LYS-565 AND SER-618.
  27. "Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency."
    Quelin F., Mathonnet F., Potentini-Esnault C., Trigui N., Peynet J., Bastenaire B., Guillon L., Bigel M.L., Sauger A., Mazurier C., de Mazancourt P.
    Blood Coagul. Fibrinolysis 17:69-73(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FA11D TYR-140; LYS-315 AND LYS-597.
  28. "Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients."
    Fard-Esfahani P., Lari G.R., Ravanbod S., Mirkhani F., Allahyari M., Rassoulzadegan M., Ala F.
    Haemophilia 14:91-95(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FA11D ILE-51; PRO-51; ILE-331; PRO-360; PRO-503 AND HIS-608.
  29. "Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect."
    Kim J., Song J., Lyu C., Kim Y., Oh S., Choi Y., Yoo J., Choi J., Kim H., Lee K.A.
    Clin. Genet. 82:180-186(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FA11D ARG-32; GLN-53; THR-252; ARG-401 AND GLU-526.
  30. "Three dominant-negative mutations in factor XI-deficient patients."
    Dai L., Rangarajan S., Mitchell M.
    Haemophilia 17:E919-E922(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FA11D THR-43; LEU-241 AND MET-403, CHARACTERIZATION OF VARIANTS FA11D THR-43; LEU-241 AND MET-403.
  31. "A novel missense mutation Asp506Gly in exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency."
    Lee J.H., Cho H.S., Hyun M.S., Kim H.Y., Kim H.J.
    Korean J. Lab. Med. 31:290-293(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FA11D GLY-506.
  32. "Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency."
    Tirefort Y., Uhr M.R., Neerman-Arbez M., de Moerloose P.
    Blood Coagul. Fibrinolysis 23:251-252(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FA11D SER-481.
  33. "A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy."
    Girolami A., Scarparo P., Bonamigo E., Santarossa L., Cristiani A., Moro S., Lombardi A.M.
    Eur. J. Haematol. 88:229-236(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FA11D LYS-454.
  34. "Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France)."
    Gueguen P., Chauvin A., Quemener-Redon S., Pan-Petesch B., Ferec C., Abgrall J.F., Le Marechal C.
    Thromb. Haemost. 107:44-50(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FA11D PRO-51; ARG-56; VAL-63; TYR-222; GLN-228; CYS-276; ASP-277; PHE-514; LEU-575 AND LYS-597.

Entry informationi

Entry nameiFA11_HUMAN
AccessioniPrimary (citable) accession number: P03951
Secondary accession number(s): D3DP64, Q4W5C2, Q9Y495
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 1986
Last sequence update: October 23, 1986
Last modified: October 29, 2014
This is version 183 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

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

Documents

  1. Human chromosome 4
    Human chromosome 4: 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. Peptidase families
    Classification of peptidase families and list of entries
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3