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P37023

- ACVL1_HUMAN

UniProt

P37023 - ACVL1_HUMAN

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Protein

Serine/threonine-protein kinase receptor R3

Gene

ACVRL1

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

Functioni

Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well.2 Publications

Catalytic activityi

ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.

Cofactori

Magnesium or manganese.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei229 – 2291ATPPROSITE-ProRule annotation
Active sitei330 – 3301Proton acceptorPROSITE-ProRule annotation

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi208 – 2169ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. activin binding Source: UniProtKB
  2. activin receptor activity, type I Source: MGI
  3. ATP binding Source: HGNC
  4. metal ion binding Source: UniProtKB-KW
  5. protein kinase binding Source: BHF-UCL
  6. protein serine/threonine kinase activity Source: HGNC
  7. receptor signaling protein serine/threonine kinase activity Source: Ensembl
  8. SMAD binding Source: HGNC
  9. transforming growth factor beta-activated receptor activity Source: MGI
  10. transforming growth factor beta binding Source: UniProtKB
  11. transforming growth factor beta receptor activity, type I Source: Ensembl
  12. transmembrane receptor protein serine/threonine kinase activity Source: UniProtKB

GO - Biological processi

  1. activin receptor signaling pathway Source: GOC
  2. angiogenesis Source: HGNC
  3. artery development Source: BHF-UCL
  4. blood circulation Source: HGNC
  5. blood vessel endothelial cell proliferation involved in sprouting angiogenesis Source: DFLAT
  6. blood vessel maturation Source: DFLAT
  7. blood vessel remodeling Source: BHF-UCL
  8. BMP signaling pathway Source: BHF-UCL
  9. cellular response to BMP stimulus Source: BHF-UCL
  10. cellular response to transforming growth factor beta stimulus Source: BHF-UCL
  11. endothelial tube morphogenesis Source: BHF-UCL
  12. in utero embryonic development Source: Ensembl
  13. lymphangiogenesis Source: BHF-UCL
  14. lymphatic endothelial cell differentiation Source: BHF-UCL
  15. negative regulation of blood vessel endothelial cell migration Source: BHF-UCL
  16. negative regulation of cell adhesion Source: HGNC
  17. negative regulation of cell growth Source: BHF-UCL
  18. negative regulation of cell migration Source: HGNC
  19. negative regulation of cell proliferation Source: HGNC
  20. negative regulation of DNA biosynthetic process Source: BHF-UCL
  21. negative regulation of endothelial cell differentiation Source: Ensembl
  22. negative regulation of endothelial cell migration Source: BHF-UCL
  23. negative regulation of endothelial cell proliferation Source: Ensembl
  24. negative regulation of focal adhesion assembly Source: HGNC
  25. positive regulation of angiogenesis Source: Ensembl
  26. positive regulation of BMP signaling pathway Source: BHF-UCL
  27. positive regulation of chondrocyte differentiation Source: BHF-UCL
  28. positive regulation of endothelial cell differentiation Source: Ensembl
  29. positive regulation of endothelial cell proliferation Source: Ensembl
  30. positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
  31. positive regulation of transcription, DNA-templated Source: HGNC
  32. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  33. protein heterooligomerization Source: Ensembl
  34. protein phosphorylation Source: HGNC
  35. regulation of blood pressure Source: HGNC
  36. regulation of blood vessel endothelial cell migration Source: DFLAT
  37. regulation of DNA replication Source: DFLAT
  38. regulation of endothelial cell proliferation Source: DFLAT
  39. regulation of transcription, DNA-templated Source: HGNC
  40. retina vasculature development in camera-type eye Source: BHF-UCL
  41. signal transduction Source: HGNC
  42. transforming growth factor beta receptor signaling pathway Source: HGNC
  43. venous blood vessel development Source: BHF-UCL
  44. wound healing, spreading of epidermal cells Source: HGNC
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Receptor, Serine/threonine-protein kinase, Transferase

Keywords - Biological processi

Angiogenesis

Keywords - Ligandi

ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.10.2. 2681.
SignaLinkiP37023.

Names & Taxonomyi

Protein namesi
Recommended name:
Serine/threonine-protein kinase receptor R3 (EC:2.7.11.30)
Short name:
SKR3
Alternative name(s):
Activin receptor-like kinase 1
Short name:
ALK-1
TGF-B superfamily receptor type I
Short name:
TSR-I
Gene namesi
Name:ACVRL1
Synonyms:ACVRLK1, ALK1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:175. ACVRL1.

Subcellular locationi

GO - Cellular componenti

  1. cell surface Source: MGI
  2. dendrite Source: Ensembl
  3. integral component of plasma membrane Source: UniProtKB
  4. neuronal cell body Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]: A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.12 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341C → Y in HHT2. 1 Publication
VAR_070309
Natural varianti48 – 492GA → EP in HHT2.
VAR_026784
Natural varianti48 – 481G → R in HHT2. 1 Publication
VAR_026785
Natural varianti50 – 501W → C in HHT2; retained in the endoplasmic reticulum. 2 Publications
VAR_006204
Natural varianti50 – 501W → G in HHT2. 1 Publication
VAR_070311
Natural varianti51 – 511C → Y in HHT2. 1 Publication
VAR_006205
Natural varianti52 – 521T → A in HHT2. 1 Publication
VAR_070312
Natural varianti66 – 661H → P in HHT2. 1 Publication
VAR_070313
Natural varianti67 – 671R → Q in HHT2; retained in the endoplasmic reticulum. 1 Publication
VAR_006206
Natural varianti67 – 671R → W in HHT2. 1 Publication
VAR_026786
Natural varianti69 – 691C → R in HHT2. 1 Publication
VAR_070314
Natural varianti77 – 771C → W in HHT2; retained in the endoplasmic reticulum. 1 Publication
VAR_006207
Natural varianti96 – 961N → D in HHT2. 1 Publication
VAR_006208
Natural varianti96 – 961N → S in HHT2. 1 Publication
VAR_070315
Natural varianti176 – 1761D → Y in HHT2. 1 Publication
VAR_070317
Natural varianti179 – 1791D → A in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 Publication
VAR_026787
Natural varianti197 – 1971T → I in HHT2. 1 Publication
VAR_070318
Natural varianti211 – 2111G → D in HHT2; retained in the endoplasmic reticulum. 1 Publication
Corresponds to variant rs28936687 [ dbSNP | Ensembl ].
VAR_026788
Natural varianti215 – 2151E → K in HHT2. 1 Publication
VAR_026789
Natural varianti217 – 2171W → G in HHT2. 1 Publication
VAR_070319
Natural varianti219 – 2191G → D in HHT2. 1 Publication
VAR_070320
Natural varianti223 – 2231G → R in HHT2. 1 Publication
VAR_026790
Natural varianti226 – 2261V → E in HHT2. 1 Publication
VAR_070321
Natural varianti229 – 2291K → R in HHT2. 1 Publication
VAR_026791
Natural varianti232 – 2321Missing in HHT2; mutant protein is capable of targeting the cell surface appropriately. 2 Publications
VAR_006209
Natural varianti233 – 2331S → L in HHT2. 1 Publication
VAR_070322
Natural varianti233 – 2331Missing in HHT2. 1 Publication
VAR_026792
Natural varianti237 – 2371Q → K in HHT2. 1 Publication
VAR_070323
Natural varianti254 – 2541Missing in HHT2; retained in the endoplasmic reticulum. 1 Publication
VAR_026793
Natural varianti260 – 2601I → L in HHT2. 1 Publication
VAR_070324
Natural varianti265 – 2651T → P in HHT2. 1 Publication
VAR_070325
Natural varianti280 – 2801H → R in HHT2. 1 Publication
VAR_070327
Natural varianti285 – 2851L → F in HHT2. 1 Publication
VAR_026794
Natural varianti289 – 2891L → P in HHT2. 1 Publication
VAR_070328
Natural varianti294 – 2941L → R in HHT2. 1 Publication
VAR_070329
Natural varianti306 – 3061A → P in HHT2. 1 Publication
VAR_026795
Natural varianti314 – 3141H → Y in HHT2. 1 Publication
VAR_026796
Natural varianti328 – 3281H → Q in HHT2. 1 Publication
VAR_070330
Natural varianti333 – 3331S → I in HHT2; retained in the endoplasmic reticulum. 2 Publications
VAR_006210
Natural varianti335 – 3351N → H in HHT2. 1 Publication
VAR_070331
Natural varianti337 – 3371L → P in HHT2. 1 Publication
VAR_026797
Natural varianti344 – 3441C → R in HHT2. 1 Publication
VAR_070333
Natural varianti344 – 3441C → Y in HHT2; retained in the endoplasmic reticulum. 2 Publications
Corresponds to variant rs28936688 [ dbSNP | Ensembl ].
VAR_026798
Natural varianti347 – 3471A → D in HHT2. 1 Publication
VAR_070334
Natural varianti347 – 3471A → P in HHT2. 1 Publication
VAR_026799
Natural varianti374 – 3741R → Q in HHT2; retained in the endoplasmic reticulum. 2 Publications
VAR_026800
Natural varianti374 – 3741R → W in HHT2. 4 Publications
Corresponds to variant rs28936401 [ dbSNP | Ensembl ].
VAR_006211
Natural varianti376 – 3761M → R in HHT2. 1 Publication
Corresponds to variant rs28936399 [ dbSNP | Ensembl ].
VAR_006212
Natural varianti376 – 3761M → V in HHT2. 1 Publication
VAR_026801
Natural varianti378 – 3781P → L in HHT2; retained in the endoplasmic reticulum.
VAR_026802
Natural varianti378 – 3781P → S in HHT2. 1 Publication
VAR_070335
Natural varianti379 – 3791E → K in HHT2. 2 Publications
VAR_026803
Natural varianti397 – 3971D → G in HHT2. 1 Publication
VAR_026804
Natural varianti398 – 3981I → N in HHT2. 1 Publication
Corresponds to variant rs28936400 [ dbSNP | Ensembl ].
VAR_026805
Natural varianti399 – 3991W → S in HHT2. 1 Publication
Corresponds to variant rs28936402 [ dbSNP | Ensembl ].
VAR_026806
Natural varianti403 – 4031L → P in HHT2. 1 Publication
VAR_070337
Natural varianti407 – 4071E → D in HHT2. 2 Publications
VAR_026807
Natural varianti411 – 4111R → P in HHT2. 1 Publication
VAR_026808
Natural varianti411 – 4111R → Q in HHT2; retained in the endoplasmic reticulum. 3 Publications
Corresponds to variant rs28936398 [ dbSNP | Ensembl ].
VAR_006213
Natural varianti411 – 4111R → W in HHT2. 3 Publications
VAR_026809
Natural varianti416 – 4161G → S in HHT2. 1 Publication
VAR_070338
Natural varianti424 – 4241P → R in HHT2. 1 Publication
VAR_070339
Natural varianti424 – 4241P → T in HHT2. 1 Publication
VAR_006214
Natural varianti425 – 4251F → L in HHT2. 1 Publication
VAR_026810
Natural varianti425 – 4251F → V in HHT2. 1 Publication
VAR_026811
Natural varianti425 – 4251Missing in HHT2. 1 Publication
VAR_026812
Natural varianti426 – 4261Y → C in HHT2. 1 Publication
VAR_070340
Natural varianti433 – 4331P → R in HHT2. 1 Publication
VAR_070341
Natural varianti449 – 4491P → S in HHT2. 1 Publication
VAR_070342
Natural varianti479 – 4791R → L in HHT2. 1 Publication
VAR_026813
Natural varianti479 – 4791R → P in HHT2. 1 Publication
VAR_070343
Natural varianti482 – 4821A → V in HHT2. 1 Publication
Corresponds to variant rs139142865 [ dbSNP | Ensembl ].
VAR_026814
Natural varianti484 – 4841R → W in HHT2. 2 Publications
VAR_026815
Natural varianti487 – 4871K → T in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 Publication
VAR_026816

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi74 – 763REL → DFQ: Affinity for BMP9 decreased by 200-fold. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi600376. phenotype.
Orphaneti774. Hereditary hemorrhagic telangiectasia.
275777. Heritable pulmonary arterial hypertension.
PharmGKBiPA24496.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence AnalysisAdd
BLAST
Chaini22 – 503482Serine/threonine-protein kinase receptor R3PRO_0000024420Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi34 ↔ 51
Disulfide bondi36 ↔ 41
Disulfide bondi46 ↔ 69
Disulfide bondi77 ↔ 89
Disulfide bondi90 ↔ 95
Glycosylationi98 – 981N-linked (GlcNAc...)Sequence Analysis
Modified residuei155 – 1551PhosphoserineBy similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP37023.
PRIDEiP37023.

PTM databases

PhosphoSiteiP37023.

Expressioni

Gene expression databases

BgeeiP37023.
CleanExiHS_ACVRL1.
ExpressionAtlasiP37023. baseline and differential.
GenevestigatoriP37023.

Organism-specific databases

HPAiHPA007041.

Interactioni

Protein-protein interaction databases

BioGridi106609. 16 interactions.
DIPiDIP-5938N.
IntActiP37023. 1 interaction.
STRINGi9606.ENSP00000267008.

Structurei

Secondary structure

1
503
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi26 – 283
Beta strandi32 – 354
Beta strandi42 – 5615
Beta strandi59 – 613
Beta strandi64 – 685
Helixi74 – 785
Beta strandi83 – 908
Turni93 – 964
Helixi198 – 2014
Beta strandi203 – 2119
Beta strandi214 – 2218
Beta strandi224 – 2318
Helixi233 – 2353
Helixi236 – 24813
Beta strandi259 – 2657
Beta strandi272 – 2787
Helixi285 – 2917
Helixi296 – 31419
Beta strandi325 – 3273
Beta strandi335 – 3384
Beta strandi344 – 3463
Beta strandi353 – 3553
Beta strandi357 – 3593
Helixi373 – 3753
Helixi378 – 3814
Helixi390 – 41021
Turni424 – 4285
Helixi435 – 4428
Beta strandi455 – 4595
Turni460 – 4623
Helixi463 – 4697
Helixi476 – 4783
Helixi482 – 49110

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2LCRNMR-A22-118[»]
3MY0X-ray2.65A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X195-497[»]
4FAOX-ray3.36C/D/I/J/O/P/U/V/c/d/i/j22-118[»]
ProteinModelPortaliP37023.
SMRiP37023. Positions 22-118, 172-493.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 11897ExtracellularSequence AnalysisAdd
BLAST
Topological domaini142 – 503362CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei119 – 14123HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini172 – 20130GSPROSITE-ProRule annotationAdd
BLAST
Domaini202 – 492291Protein kinasePROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni73 – 764Mediates specificity for BMP ligand

Sequence similaritiesi

Contains 1 GS domain.PROSITE-ProRule annotation
Contains 1 protein kinase domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0515.
GeneTreeiENSGT00760000118876.
HOGENOMiHOG000230587.
HOVERGENiHBG054502.
InParanoidiP37023.
KOiK13594.
PhylomeDBiP37023.
TreeFamiTF314724.

Family and domain databases

InterProiIPR000472. Activin_rcpt.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR008271. Ser/Thr_kinase_AS.
IPR003605. TGF_beta_rcpt_GS.
IPR000333. TGFB_receptor.
[Graphical view]
PANTHERiPTHR23255. PTHR23255. 1 hit.
PfamiPF01064. Activin_recp. 1 hit.
PF00069. Pkinase. 1 hit.
PF08515. TGF_beta_GS. 1 hit.
[Graphical view]
PRINTSiPR00653. ACTIVIN2R.
SMARTiSM00467. GS. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS51256. GS. 1 hit.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P37023-1 [UniParc]FASTAAdd to Basket

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        10         20         30         40         50
MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW
60 70 80 90 100
CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS
110 120 130 140 150
LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ
160 170 180 190 200
RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR
210 220 230 240 250
QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL
260 270 280 290 300
LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL
310 320 330 340 350
RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG
360 370 380 390 400
LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA
410 420 430 440 450
FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT
460 470 480 490 500
IPNRLAADPV LSGLAQMMRE CWYPNPSARL TALRIKKTLQ KISNSPEKPK

VIQ
Length:503
Mass (Da):56,124
Last modified:December 15, 1998 - v2
Checksum:i074522AA802325DD
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti172 – 1721S → T in CAA80255. (PubMed:8397373)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301P → S Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
VAR_070308
Natural varianti34 – 341C → Y in HHT2. 1 Publication
VAR_070309
Natural varianti38 – 381S → C.1 Publication
VAR_070310
Natural varianti48 – 492GA → EP in HHT2.
VAR_026784
Natural varianti48 – 481G → R in HHT2. 1 Publication
VAR_026785
Natural varianti50 – 501W → C in HHT2; retained in the endoplasmic reticulum. 2 Publications
VAR_006204
Natural varianti50 – 501W → G in HHT2. 1 Publication
VAR_070311
Natural varianti51 – 511C → Y in HHT2. 1 Publication
VAR_006205
Natural varianti52 – 521T → A in HHT2. 1 Publication
VAR_070312
Natural varianti66 – 661H → P in HHT2. 1 Publication
VAR_070313
Natural varianti67 – 671R → Q in HHT2; retained in the endoplasmic reticulum. 1 Publication
VAR_006206
Natural varianti67 – 671R → W in HHT2. 1 Publication
VAR_026786
Natural varianti69 – 691C → R in HHT2. 1 Publication
VAR_070314
Natural varianti77 – 771C → W in HHT2; retained in the endoplasmic reticulum. 1 Publication
VAR_006207
Natural varianti96 – 961N → D in HHT2. 1 Publication
VAR_006208
Natural varianti96 – 961N → S in HHT2. 1 Publication
VAR_070315
Natural varianti138 – 1381L → P.1 Publication
VAR_070316
Natural varianti176 – 1761D → Y in HHT2. 1 Publication
VAR_070317
Natural varianti179 – 1791D → A in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 Publication
VAR_026787
Natural varianti197 – 1971T → I in HHT2. 1 Publication
VAR_070318
Natural varianti211 – 2111G → D in HHT2; retained in the endoplasmic reticulum. 1 Publication
Corresponds to variant rs28936687 [ dbSNP | Ensembl ].
VAR_026788
Natural varianti215 – 2151E → K in HHT2. 1 Publication
VAR_026789
Natural varianti217 – 2171W → G in HHT2. 1 Publication
VAR_070319
Natural varianti219 – 2191G → D in HHT2. 1 Publication
VAR_070320
Natural varianti223 – 2231G → R in HHT2. 1 Publication
VAR_026790
Natural varianti226 – 2261V → E in HHT2. 1 Publication
VAR_070321
Natural varianti229 – 2291K → R in HHT2. 1 Publication
VAR_026791
Natural varianti232 – 2321Missing in HHT2; mutant protein is capable of targeting the cell surface appropriately. 2 Publications
VAR_006209
Natural varianti233 – 2331S → L in HHT2. 1 Publication
VAR_070322
Natural varianti233 – 2331Missing in HHT2. 1 Publication
VAR_026792
Natural varianti237 – 2371Q → K in HHT2. 1 Publication
VAR_070323
Natural varianti245 – 2451I → N.
Corresponds to variant rs1804508 [ dbSNP | Ensembl ].
VAR_011717
Natural varianti254 – 2541Missing in HHT2; retained in the endoplasmic reticulum. 1 Publication
VAR_026793
Natural varianti260 – 2601I → L in HHT2. 1 Publication
VAR_070324
Natural varianti265 – 2651T → P in HHT2. 1 Publication
VAR_070325
Natural varianti277 – 2771T → K Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
VAR_070326
Natural varianti280 – 2801H → R in HHT2. 1 Publication
VAR_070327
Natural varianti285 – 2851L → F in HHT2. 1 Publication
VAR_026794
Natural varianti289 – 2891L → P in HHT2. 1 Publication
VAR_070328
Natural varianti294 – 2941L → R in HHT2. 1 Publication
VAR_070329
Natural varianti306 – 3061A → P in HHT2. 1 Publication
VAR_026795
Natural varianti314 – 3141H → Y in HHT2. 1 Publication
VAR_026796
Natural varianti328 – 3281H → Q in HHT2. 1 Publication
VAR_070330
Natural varianti333 – 3331S → I in HHT2; retained in the endoplasmic reticulum. 2 Publications
VAR_006210
Natural varianti335 – 3351N → H in HHT2. 1 Publication
VAR_070331
Natural varianti337 – 3371L → P in HHT2. 1 Publication
VAR_026797
Natural varianti342 – 3421L → P.1 Publication
VAR_070332
Natural varianti344 – 3441C → R in HHT2. 1 Publication
VAR_070333
Natural varianti344 – 3441C → Y in HHT2; retained in the endoplasmic reticulum. 2 Publications
Corresponds to variant rs28936688 [ dbSNP | Ensembl ].
VAR_026798
Natural varianti347 – 3471A → D in HHT2. 1 Publication
VAR_070334
Natural varianti347 – 3471A → P in HHT2. 1 Publication
VAR_026799
Natural varianti374 – 3741R → Q in HHT2; retained in the endoplasmic reticulum. 2 Publications
VAR_026800
Natural varianti374 – 3741R → W in HHT2. 4 Publications
Corresponds to variant rs28936401 [ dbSNP | Ensembl ].
VAR_006211
Natural varianti376 – 3761M → R in HHT2. 1 Publication
Corresponds to variant rs28936399 [ dbSNP | Ensembl ].
VAR_006212
Natural varianti376 – 3761M → V in HHT2. 1 Publication
VAR_026801
Natural varianti378 – 3781P → L in HHT2; retained in the endoplasmic reticulum.
VAR_026802
Natural varianti378 – 3781P → S in HHT2. 1 Publication
VAR_070335
Natural varianti379 – 3791E → K in HHT2. 2 Publications
VAR_026803
Natural varianti397 – 3971D → G in HHT2. 1 Publication
VAR_026804
Natural varianti398 – 3981I → N in HHT2. 1 Publication
Corresponds to variant rs28936400 [ dbSNP | Ensembl ].
VAR_026805
Natural varianti399 – 3991W → S in HHT2. 1 Publication
Corresponds to variant rs28936402 [ dbSNP | Ensembl ].
VAR_026806
Natural varianti400 – 4001A → T Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
VAR_070336
Natural varianti403 – 4031L → P in HHT2. 1 Publication
VAR_070337
Natural varianti407 – 4071E → D in HHT2. 2 Publications
VAR_026807
Natural varianti411 – 4111R → P in HHT2. 1 Publication
VAR_026808
Natural varianti411 – 4111R → Q in HHT2; retained in the endoplasmic reticulum. 3 Publications
Corresponds to variant rs28936398 [ dbSNP | Ensembl ].
VAR_006213
Natural varianti411 – 4111R → W in HHT2. 3 Publications
VAR_026809
Natural varianti416 – 4161G → S in HHT2. 1 Publication
VAR_070338
Natural varianti424 – 4241P → R in HHT2. 1 Publication
VAR_070339
Natural varianti424 – 4241P → T in HHT2. 1 Publication
VAR_006214
Natural varianti425 – 4251F → L in HHT2. 1 Publication
VAR_026810
Natural varianti425 – 4251F → V in HHT2. 1 Publication
VAR_026811
Natural varianti425 – 4251Missing in HHT2. 1 Publication
VAR_026812
Natural varianti426 – 4261Y → C in HHT2. 1 Publication
VAR_070340
Natural varianti433 – 4331P → R in HHT2. 1 Publication
VAR_070341
Natural varianti449 – 4491P → S in HHT2. 1 Publication
VAR_070342
Natural varianti479 – 4791R → L in HHT2. 1 Publication
VAR_026813
Natural varianti479 – 4791R → P in HHT2. 1 Publication
VAR_070343
Natural varianti482 – 4821A → V in HHT2. 1 Publication
Corresponds to variant rs139142865 [ dbSNP | Ensembl ].
VAR_026814
Natural varianti484 – 4841R → W in HHT2. 2 Publications
VAR_026815
Natural varianti486 – 4861K → E Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
VAR_070344
Natural varianti487 – 4871K → T in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 Publication
VAR_026816

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z22533 mRNA. Translation: CAA80255.1.
L17075 mRNA. Translation: AAA16160.1.
U77713
, U77707, U77708, U77709, U77710, U77711, U77712 Genomic DNA. Translation: AAB61900.1.
AC025259 Genomic DNA. No translation available.
CH471111 Genomic DNA. Translation: EAW58213.1.
BC042637 mRNA. Translation: AAH42637.1.
CCDSiCCDS31804.1.
PIRiA49431.
RefSeqiNP_000011.2. NM_000020.2.
NP_001070869.1. NM_001077401.1.
XP_005269292.1. XM_005269235.2.
UniGeneiHs.591026.

Genome annotation databases

EnsembliENST00000388922; ENSP00000373574; ENSG00000139567.
GeneIDi94.
KEGGihsa:94.
UCSCiuc001rzj.3. human.

Polymorphism databases

DMDMi3915750.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Hereditary Hemorrhagic Telangiectasia and ENG

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z22533 mRNA. Translation: CAA80255.1 .
L17075 mRNA. Translation: AAA16160.1 .
U77713
, U77707 , U77708 , U77709 , U77710 , U77711 , U77712 Genomic DNA. Translation: AAB61900.1 .
AC025259 Genomic DNA. No translation available.
CH471111 Genomic DNA. Translation: EAW58213.1 .
BC042637 mRNA. Translation: AAH42637.1 .
CCDSi CCDS31804.1.
PIRi A49431.
RefSeqi NP_000011.2. NM_000020.2.
NP_001070869.1. NM_001077401.1.
XP_005269292.1. XM_005269235.2.
UniGenei Hs.591026.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2LCR NMR - A 22-118 [» ]
3MY0 X-ray 2.65 A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X 195-497 [» ]
4FAO X-ray 3.36 C/D/I/J/O/P/U/V/c/d/i/j 22-118 [» ]
ProteinModelPortali P37023.
SMRi P37023. Positions 22-118, 172-493.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106609. 16 interactions.
DIPi DIP-5938N.
IntActi P37023. 1 interaction.
STRINGi 9606.ENSP00000267008.

Chemistry

BindingDBi P37023.
ChEMBLi CHEMBL5311.
DrugBanki DB00171. Adenosine triphosphate.
GuidetoPHARMACOLOGYi 1784.

PTM databases

PhosphoSitei P37023.

Polymorphism databases

DMDMi 3915750.

Proteomic databases

PaxDbi P37023.
PRIDEi P37023.

Protocols and materials databases

DNASUi 94.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000388922 ; ENSP00000373574 ; ENSG00000139567 .
GeneIDi 94.
KEGGi hsa:94.
UCSCi uc001rzj.3. human.

Organism-specific databases

CTDi 94.
GeneCardsi GC12P052300.
GeneReviewsi ACVRL1.
HGNCi HGNC:175. ACVRL1.
HPAi HPA007041.
MIMi 600376. phenotype.
601284. gene.
neXtProti NX_P37023.
Orphaneti 774. Hereditary hemorrhagic telangiectasia.
275777. Heritable pulmonary arterial hypertension.
PharmGKBi PA24496.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0515.
GeneTreei ENSGT00760000118876.
HOGENOMi HOG000230587.
HOVERGENi HBG054502.
InParanoidi P37023.
KOi K13594.
PhylomeDBi P37023.
TreeFami TF314724.

Enzyme and pathway databases

BRENDAi 2.7.10.2. 2681.
SignaLinki P37023.

Miscellaneous databases

ChiTaRSi ACVRL1. human.
GeneWikii ACVRL1.
GenomeRNAii 94.
NextBioi 355.
PROi P37023.
SOURCEi Search...

Gene expression databases

Bgeei P37023.
CleanExi HS_ACVRL1.
ExpressionAtlasi P37023. baseline and differential.
Genevestigatori P37023.

Family and domain databases

InterProi IPR000472. Activin_rcpt.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR008271. Ser/Thr_kinase_AS.
IPR003605. TGF_beta_rcpt_GS.
IPR000333. TGFB_receptor.
[Graphical view ]
PANTHERi PTHR23255. PTHR23255. 1 hit.
Pfami PF01064. Activin_recp. 1 hit.
PF00069. Pkinase. 1 hit.
PF08515. TGF_beta_GS. 1 hit.
[Graphical view ]
PRINTSi PR00653. ACTIVIN2R.
SMARTi SM00467. GS. 1 hit.
[Graphical view ]
SUPFAMi SSF56112. SSF56112. 1 hit.
PROSITEi PS51256. GS. 1 hit.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity."
    ten Dijke P., Ichijo H., Franzen P., Schulz P., Saras J., Toyoshima H., Heldin C.-H., Miyazono K.
    Oncogene 8:2879-2887(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Placenta.
  2. "Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors."
    Attisano L., Carcamo J., Ventura F., Weis F.M., Massague J., Wrana J.L.
    Cell 75:671-680(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2."
    Berg J.N., Gallione C.J., Stenzel T.T., Johnson D.W., Allen W.P., Schwartz C.E., Jackson C.E., Porteous M.E.M., Marchuk D.A.
    Am. J. Hum. Genet. 61:60-67(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HHT2 CYS-50; GLN-67; ILE-333; TRP-374 AND THR-424.
  4. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  7. "Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties."
    Mahlawat P., Ilangovan U., Biswas T., Sun L.Z., Hinck A.P.
    Biochemistry 51:6328-6341(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 19-118, FUNCTION AS BMP9 RECEPTOR, DISULFIDE BONDS, MUTAGENESIS OF 74-ARG--LEU-76.
  8. "Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex."
    Townson S.A., Martinez-Hackert E., Greppi C., Lowden P., Sako D., Liu J., Ucran J.A., Liharska K., Underwood K.W., Seehra J., Kumar R., Grinberg A.V.
    J. Biol. Chem. 287:27313-27325(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (3.36 ANGSTROMS) OF 22-118 IN COMPLEX WITH BMP9 AND ACVR2B, FUNCTION AS BMP9 AND BMP10 RECEPTOR, DISULFIDE BONDS.
  9. Cited for: VARIANTS HHT2 SER-232 DEL; ARG-376 AND GLN-411.
  10. "Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia."
    Klaus D.J., Gallione C.J., Anthony K., Yeh E.Y., Yu J., Lux A., Johnson D.W., Marchuk D.A.
    Hum. Mutat. 12:137-137(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHT2 TYR-51; TRP-77 AND ASP-96.
  11. "Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2."
    Abdalla S.A., Pece-Barbara N., Vera S., Tapia E., Paez E., Bernabeu C., Letarte M.
    Hum. Mol. Genet. 9:1227-1237(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHT2 GLY-48-49-ALA DELINS EP; CYS-50; SER-232 DEL; ILE-333; TYR-344 AND ASP-407.
  12. "Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families."
    Kjeldsen A.D., Brusgaard K., Poulsen L., Kruse T., Rasmussen K., Green A., Vase P.
    Am. J. Med. Genet. 98:298-302(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHT2 TRP-374 AND ASN-398.
  13. "Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia."
    Trembath R.C., Thomson J.R., Machado R.D., Morgan N.V., Atkinson C., Winship I., Simonneau G., Galie N., Loyd J.E., Humbert M., Nichols W.C., Berg J., Manes A., McGaughran J., Pauciulo M., Wheeler L., Morrell N.W.
    N. Engl. J. Med. 345:325-334(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHT2 ASP-254 DEL; TRP-411 AND TRP-484.
  14. "Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia."
    Harrison R.E., Flanagan J.A., Sankelo M., Abdalla S.A., Rowell J., Machado R.D., Elliott C.G., Robbins I.M., Olschewski H., McLaughlin V., Gruenig E., Kermeen F., Halme M., Raeisaenen-Sokolowski A., Laitinen T., Morrell N.W., Trembath R.C.
    J. Med. Genet. 40:865-871(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHT2 ALA-179; ASP-211; TYR-344; TRP-374; GLN-374; SER-399; GLN-411 AND THR-487, CHARACTERIZATION OF VARIANTS HHT2 CYS-50; GLN-67; TRP-77; ALA-179; ASP-211; SER-232 DEL; ASP-254 DEL; ILE-333; TYR-344; GLN-374; LEU-378; GLN-411 AND THR-487.
  15. Cited for: VARIANTS HHT2 ARG-48; LYS-215; ARG-223; ARG-229; SER-233 DEL; PHE-285; PRO-306; TYR-314; PRO-337; PRO-347; GLN-374; VAL-376; LYS-379; GLY-397; TRP-411; PRO-411; GLN-411; LEU-425; LEU-479; VAL-482 AND TRP-484.
  16. "Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations."
    Kuehl H.K.A., Caselitz M., Hasenkamp S., Wagner S., El-Harith E.-H.A., Manns M.P., Stuhrmann M.
    Hum. Mutat. 25:320-320(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHT2 TRP-67; TRP-374; LYS-379; ASP-407; TRP-411; VAL-425 AND PHE-425 DEL.
  17. "Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype."
    Bossler A.D., Richards J., George C., Godmilow L., Ganguly A.
    Hum. Mutat. 27:667-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-30, VARIANTS HHT2 TYR-34; ALA-52; ILE-197; ASP-219; LYS-237; LEU-260; PRO-289; ARG-344; CYS-426 AND ARG-433.
  18. "Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia."
    Argyriou L., Twelkemeyer S., Panchulidze I., Wehner L.E., Teske U., Engel W., Nayernia K.
    Int. J. Mol. Med. 17:655-659(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHT2 GLY-50; PRO-66; ARG-69; TYR-176; LEU-233; PRO-265; PRO-403 AND SER-416.
  19. "Update on molecular diagnosis of hereditary hemorrhagic telangiectasia."
    Richards-Yutz J., Grant K., Chao E.C., Walther S.E., Ganguly A.
    Hum. Genet. 128:61-77(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CYS-38; PRO-138; LYS-277; PRO-342; THR-400 AND GLU-486, VARIANTS HHT2 SER-96; GLY-217; GLU-226; ARG-280; ARG-294; GLN-328; HIS-335; ASP-347; SER-378; ARG-424; SER-449 AND PRO-479.

Entry informationi

Entry nameiACVL1_HUMAN
AccessioniPrimary (citable) accession number: P37023
Secondary accession number(s): A6NGA8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: December 15, 1998
Last modified: October 29, 2014
This is version 165 of the entry and version 2 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, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3