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Protein

Activin receptor type-1C

Gene

ACVR1C

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

Functioni

Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis.2 Publications

Catalytic activityi

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

Cofactori

Mg2+Curated, Mn2+Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei222ATPPROSITE-ProRule annotationBy similarity1
Active sitei323Proton acceptorPROSITE-ProRule annotationBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi201 – 209ATPPROSITE-ProRule annotationBy similarity9

GO - Molecular functioni

  • activin receptor activity, type I Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • growth factor binding Source: UniProtKB
  • metal ion binding Source: UniProtKB
  • nodal binding Source: BHF-UCL
  • protein serine/threonine kinase activity Source: Reactome

GO - Biological processi

  • apoptotic nuclear changes Source: UniProtKB
  • cell differentiation Source: UniProtKB
  • lipid storage Source: Ensembl
  • negative regulation of chorionic trophoblast cell proliferation Source: BHF-UCL
  • negative regulation of insulin secretion Source: Ensembl
  • negative regulation of trophoblast cell migration Source: BHF-UCL
  • nodal signaling pathway Source: BHF-UCL
  • positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: BHF-UCL
  • protein phosphorylation Source: UniProtKB
  • response to dietary excess Source: Ensembl
  • response to glucose Source: Ensembl
  • response to insulin Source: Ensembl

Keywordsi

Molecular functionKinase, Receptor, Serine/threonine-protein kinase, Transferase
Biological processApoptosis
LigandATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.11.30 2681
ReactomeiR-HSA-1181150 Signaling by NODAL
R-HSA-1433617 Regulation of signaling by NODAL
R-HSA-1502540 Signaling by Activin
SignaLinkiQ8NER5
SIGNORiQ8NER5

Names & Taxonomyi

Protein namesi
Recommended name:
Activin receptor type-1C (EC:2.7.11.30)
Alternative name(s):
Activin receptor type IC
Short name:
ACTR-IC
Activin receptor-like kinase 7
Short name:
ALK-7
Gene namesi
Name:ACVR1CImported
Synonyms:ALK71 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000123612.15
HGNCiHGNC:18123 ACVR1C
MIMi608981 gene
neXtProtiNX_Q8NER5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 113ExtracellularSequence analysisAdd BLAST92
Transmembranei114 – 134HelicalSequence analysisAdd BLAST21
Topological domaini135 – 493CytoplasmicSequence analysisAdd BLAST359

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi194T → D: Pro-apoptotic. 1 Publication1
Mutagenesisi222K → R: Loss of response to NODAL and SMAD2 phosphorylation. 2 Publications1

Organism-specific databases

DisGeNETi130399
OpenTargetsiENSG00000123612
PharmGKBiPA134908988

Chemistry databases

ChEMBLiCHEMBL5642

Polymorphism and mutation databases

BioMutaiACVR1C
DMDMi74762565

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000004262821 – 493Activin receptor type-1CAdd BLAST473

Proteomic databases

MaxQBiQ8NER5
PaxDbiQ8NER5
PeptideAtlasiQ8NER5
PRIDEiQ8NER5
ProteomicsDBi73204
73205 [Q8NER5-2]
73206 [Q8NER5-3]
73207 [Q8NER5-4]

PTM databases

iPTMnetiQ8NER5
PhosphoSitePlusiQ8NER5

Expressioni

Tissue specificityi

Present in pancreas, heart, colon, small intestine, ovary and the hippocampus, medulla oblongata and putamen of the brain. Isoform 1, isoform 2, isoform 3 and isoform 4 are all expressed in the placenta throughout pregnancy.2 Publications

Gene expression databases

BgeeiENSG00000123612
CleanExiHS_ACVR1C
GenevisibleiQ8NER5 HS

Organism-specific databases

HPAiHPA007982
HPA011933

Interactioni

Subunit structurei

Binds the type 2 receptor protein ACVR2A.By similarity

GO - Molecular functioni

  • growth factor binding Source: UniProtKB
  • nodal binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi126232, 13 interactors
IntActiQ8NER5, 3 interactors
STRINGi9606.ENSP00000243349

Structurei

3D structure databases

ProteinModelPortaliQ8NER5
SMRiQ8NER5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini165 – 194GSPROSITE-ProRule annotationAdd BLAST30
Domaini195 – 485Protein kinasePROSITE-ProRule annotationAdd BLAST291

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2052 Eukaryota
ENOG410XQT0 LUCA
GeneTreeiENSGT00760000118876
HOGENOMiHOG000230587
HOVERGENiHBG054502
InParanoidiQ8NER5
KOiK13568
OMAiAPKLGPM
OrthoDBiEOG091G0BIU
PhylomeDBiQ8NER5
TreeFamiTF314724

Family and domain databases

InterProiView protein in InterPro
IPR003605 GS_dom
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
IPR008271 Ser/Thr_kinase_AS
IPR000333 TGFB_receptor
PANTHERiPTHR23255 PTHR23255, 1 hit
PfamiView protein in Pfam
PF07714 Pkinase_Tyr, 1 hit
PF08515 TGF_beta_GS, 1 hit
SMARTiView protein in SMART
SM00467 GS, 1 hit
SM00220 S_TKc, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS51256 GS, 1 hit
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit

Sequences (4)i

Sequence statusi: Complete.

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

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 11 Publication (identifier: Q8NER5-1) [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
MTRALCSALR QALLLLAAAA ELSPGLKCVC LLCDSSNFTC QTEGACWASV
60 70 80 90 100
MLTNGKEQVI KSCVSLPELN AQVFCHSSNN VTKTECCFTD FCNNITLHLP
110 120 130 140 150
TASPNAPKLG PMELAIIITV PVCLLSIAAM LTVWACQGRQ CSYRKKKRPN
160 170 180 190 200
VEEPLSECNL VNAGKTLKDL IYDVTASGSG SGLPLLVQRT IARTIVLQEI
210 220 230 240 250
VGKGRFGEVW HGRWCGEDVA VKIFSSRDER SWFREAEIYQ TVMLRHENIL
260 270 280 290 300
GFIAADNKDN GTWTQLWLVS EYHEQGSLYD YLNRNIVTVA GMIKLALSIA
310 320 330 340 350
SGLAHLHMEI VGTQGKPAIA HRDIKSKNIL VKKCETCAIA DLGLAVKHDS
360 370 380 390 400
ILNTIDIPQN PKVGTKRYMA PEMLDDTMNV NIFESFKRAD IYSVGLVYWE
410 420 430 440 450
IARRCSVGGI VEEYQLPYYD MVPSDPSIEE MRKVVCDQKF RPSIPNQWQS
460 470 480 490
CEALRVMGRI MRECWYANGA ARLTALRIKK TISQLCVKED CKA
Length:493
Mass (Da):54,871
Last modified:October 1, 2002 - v1
Checksum:i5A10F259679204CB
GO
Isoform 21 Publication (identifier: Q8NER5-2) [UniParc]FASTAAdd to basket
Also known as: B1 Publication, soluble B1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     102-258: Missing.

Show »
Length:336
Mass (Da):37,461
Checksum:i9F2832F46C7E997C
GO
Isoform 31 Publication (identifier: Q8NER5-3) [UniParc]FASTAAdd to basket
Also known as: A1 Publication, soluble A1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     102-181: Missing.

Show »
Length:413
Mass (Da):46,357
Checksum:i1B34129E0CE1B2C2
GO
Isoform 41 Publication (identifier: Q8NER5-4) [UniParc]FASTAAdd to basket
Also known as: Truncated1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.

Show »
Length:443
Mass (Da):49,684
Checksum:iBB1AEE54E0187E02
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti231S → Y in AAH22530 (PubMed:15489334).Curated1
Sequence conflicti289V → M in AAH22530 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_041407195I → T1 PublicationCorresponds to variant dbSNP:rs56188432Ensembl.1
Natural variantiVAR_041408216G → R1 PublicationCorresponds to variant dbSNP:rs34742924Ensembl.1
Natural variantiVAR_041409267W → R in a lung squamous cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_041410355I → V1 PublicationCorresponds to variant dbSNP:rs35500979Ensembl.1
Natural variantiVAR_041411482I → V1 PublicationCorresponds to variant dbSNP:rs7594480Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0518401 – 50Missing in isoform 4. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_051841102 – 258Missing in isoform 2. 1 PublicationAdd BLAST157
Alternative sequenceiVSP_051842102 – 181Missing in isoform 3. 1 PublicationAdd BLAST80

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY127050 mRNA Translation: AAM93495.1
AF525679 mRNA Translation: AAP21993.1
AF525680 mRNA Translation: AAP21994.1
AF525681 mRNA Translation: AAP21995.1
AC019186 Genomic DNA No translation available.
AC079750 Genomic DNA Translation: AAX88951.1
BC022530 mRNA Translation: AAH22530.1
CCDSiCCDS2205.1 [Q8NER5-1]
CCDS46432.1 [Q8NER5-2]
CCDS46433.1 [Q8NER5-3]
CCDS46434.1 [Q8NER5-4]
RefSeqiNP_001104501.1, NM_001111031.1 [Q8NER5-4]
NP_001104502.1, NM_001111032.1 [Q8NER5-3]
NP_001104503.1, NM_001111033.1 [Q8NER5-2]
NP_660302.2, NM_145259.2 [Q8NER5-1]
UniGeneiHs.562901

Genome annotation databases

EnsembliENST00000243349; ENSP00000243349; ENSG00000123612 [Q8NER5-1]
ENST00000335450; ENSP00000335178; ENSG00000123612 [Q8NER5-3]
ENST00000348328; ENSP00000335139; ENSG00000123612 [Q8NER5-2]
ENST00000409680; ENSP00000387168; ENSG00000123612 [Q8NER5-4]
GeneIDi130399
KEGGihsa:130399
UCSCiuc002tzk.5 human [Q8NER5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiACV1C_HUMAN
AccessioniPrimary (citable) accession number: Q8NER5
Secondary accession number(s): Q4ZFZ8
, Q86UL1, Q86UL2, Q8TBG2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: October 1, 2002
Last modified: June 20, 2018
This is version 146 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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