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0ACVL1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameACVRL1
DescriptionSerine/threonine-protein kinase receptor r3 precursor (ec 2.7.1.37) (skr3) (activin receptor-like kinase 1) (alk-1) (tgf-b superfamily receptor type i) (tsr-i).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005887 integral to plasma membrane (TAS)
0004675 transmembrane receptor protein serine/threo... (TAS)
0008015 circulation (TAS)
0007179 transforming growth factor beta receptor si... (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
This approximately 30 amino acid motif precedes the kinase domain in types I and II TGF beta receptors. Mutation of two or more of the serines or threonines in the TTSGSGSG of TGF-beta type I receptor impairs phosphorylation and signaling activity.
  IPR003605:TGF beta receptor, GS motif
Transforming growth factor-beta (TGF-beta) forms a family with othergrowth factors described in . The receptors for most of the members of this growth factor family are related. These proteins arereceptor-type kinases of Ser/Thr type ).hich have a singletransmembrane domain and a specific hydrophilic Cys-rich ligand-binding domain . The C-terminal part of the extracellulardomain is conserved. Some of the receptors of this family contain subclass-specificN-terminal extensions of this homology domain. The type I receptors also possess 7 extracellular residuespreceding the cysteine box.
  IPR000472:TGF-beta receptor/activin receptor, type I/II
Activin type II receptors are proteins of around 500 residues that sharea high degree of similarity (human and mouse sequences are 99% identical).The receptor.hich is involved in transmembrane signalling.onsists ofan extracellular domain that specifically binds activin A. singlemembrane-spanning domain.nd an intracellular kinase domain withpredicted serine/threonine specificity .
  IPR000333:Activin type II receptor
Eukaryotic protein kinases are enzymesthat belong to a very extensive family of proteins which share a conserved catalytic core common withboth serine/threonine and tyrosine protein kinases. There are a number of conserved regions in thecatalytic domain of protein kinases. In the N-terminal extremity of the catalytic domain there is aglycine-rich stretch of residues in the vicinity of a lysine residue.hich has been shown to be involvedin ATP binding. In the central part of the catalytic domain there is a conserved aspartic acid residuewhich is important for the catalytic activity of the enzyme . This entry includes protein kinases from eukaryotes and viruses and may include some bacterial hits too.
  IPR000719:Protein kinase
Protein kinases () catalyze the phosphotransfer reaction fundamental to most signalling and regulatory processes in the eukaryotic cell . The catalytic subunit contains a core that is common to both serine/threonine and tyrosine protein kinases. The catalytic domain contains the nucleotide-binding site and the catalytic apparatus in an inter-lobe cleft. Structurally it shares functional and structural similarities with the ATP-grasp fold.hich is found in enzymes that catalyse the formation of an amide bond.nd with PIPK (phosphoinositol phosphate kinase). The three-dimensional fold of the protein kinase catalytic domain is similar to domains found in several other proteins. These include the catalytic domain of actin-fragmin kinase.n atypical protein kinase that regulates the F-actin capping activity in plasmodia ; the catalytic domain of phosphoinositide-3-kinase (PI3K).hich phosphorylates phosphoinositides and as such is involved in a number of fundamental cellular processes such as apoptosis.roliferation.otility and adhesion ; the catalytic domain of the MHCK/EF2 kinase.n atypical protein kinase that includes the TRP (transient channel potential) calcium-channel kinase involved in the modulation of calcium channels in eukaryotic cells in response to external signals ; choline kinase.hich catalyses the ATP-dependent phosphorylation of choline during the biosynthesis of phosphatidylcholine ; and 3.-aminoglycoside phosphotransferase type IIIa. bacterial enzyme that confers resistance to a range of aminoglycoside antibiotics .
  IPR011009:Protein kinase-like
IPR000719:Pkinase 
Evalue:-61.6020584106445 
Location:202-489IPR003605:TGF_beta_GS 
Evalue:-12.7212467193604 
Location:172-200IPR000472:Activin_recp 
Evalue:-12.3665313720703 
Location:32-103
SequencesProtein: ACVL1_HUMAN (503 aa)
mRNA: NM_000020
Local Annotation
Synapse Ontology
transport of vesicles in the presynaptic neuron
sdb:0017 Mobilization: synapsins, CAM kinase I  (Evidence:keywords)
KO assignmentK04675
  Level 3 annotation:
    activin receptor, type I
  Level 2 annotation:
    TGF-beta signaling pathway
    Cytokine receptors
    Cytokine-cytokine receptor interaction
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 93 residues, 50587468-50587746Exon2: 24 residues, 50592520-50592586Exon3: 86 residues, 50593149-50593401Exon4: 72 residues, 50593609-50593821Exon5: 35 residues, 50594024-50594124Exon6: 51 residues, 50594489-50594636Exon7: 94 residues, 50595275-50595551Exon8: 68 residues, 50596086-50596284Exon9: 45 residues, 50599035-50599166Exon10: 105 residues, 50600809-50601120Exon11: 2 residues, -Jump to ACVL1_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 2755 50587468-50601120 ~-14K 8882(ACVRL1)(+)Loci: 2756 50631752-50677126 ~-45K 8883(ACVR1B)(+)Loci: 2757 50687014-50695938 ~-9K 8886(GRASP)(+)Loci: 4034 50965965-50971566 ~-6K 8896(KRTHB1)(-)Loci: 2758 50981917-50988684 ~-7K 8897(KRTHB6)(+)Loci: 4035 50994358-51001438 ~-7K 8898(KRTHB3)(-)Loci: 4036 51040058-51047576 ~-8K 8899(KRTHB5)(-)Loci: 4037 51057862-51065684 ~-8K 8900(KRTHB4)(-)Loci: 4038 51104120-51114373 ~-10K 8902(-)Loci: 4039 51148861-51153824 ~-5K 8903(KRT6D)(-)Loci: 4040 51167243-51173287 ~-6K 8904(KRT6A)(-)Loci: 4041 51194627-51200510 ~-6K 8905(KRT5)(-)Loci: 4042 51265639-51281559 ~-16K 8909(-)Loci: 4043 51448205-51457372 ~-9K 8917(KRT2P)(-)Loci: 4044 51486600-51494602 ~-8K 8920(KRT4)(-)Loci: 4045 51577237-51585127 ~-8K 8924(KRT8)(-)Loci: 2759 51629109-51632951 ~-4K 8926(KRT18)(+)Loci: 2761 51948817-51973697 ~-25K 8948(ESPL1)(+)Loci: 4046 52160546-52179538 ~-19K 8970(MAP3K12)(-)Loci: 4047 52186740-52187689 ~-1K 8973(NPFF)(-)Loci: 4048 52345211-52356779 ~-12K 8978(ATP5G2)(-)Loci: 2754 50271286-50488365 ~-217K 8878(SCN8A)(+)Link out to UCSC