Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 159 (17 Jun 2020)
Sequence version 1 (01 Oct 2002)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Activin receptor type-1C

Gene

ACVR1C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+Curated, Mn2+Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei222ATPPROSITE-ProRule annotationBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei323Proton acceptorPROSITE-ProRule annotationBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi201 – 209ATPPROSITE-ProRule annotationBy similarity9

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.7.11.30 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1181150 Signaling by NODAL
R-HSA-1433617 Regulation of signaling by NODAL
R-HSA-1502540 Signaling by Activin

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q8NER5

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8NER5

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ACVR1CImported
Synonyms:ALK71 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000123612.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18123 ACVR1C

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608981 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NER5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini22 – 113ExtracellularSequence analysisAdd BLAST92
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei114 – 134HelicalSequence analysisAdd BLAST21
Topological domaini135 – 493CytoplasmicSequence analysisAdd BLAST359

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi194T → D: Pro-apoptotic. 1 Publication1
Mutagenesisi222K → R: Loss of response to NODAL and SMAD2 phosphorylation. 2 Publications1

Organism-specific databases

DisGeNET

More...
DisGeNETi
130399

Open Targets

More...
OpenTargetsi
ENSG00000123612

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134908988

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NER5 Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5642

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ACVR1C

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74762565

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 20Sequence analysisAdd BLAST20
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000004262821 – 493Activin receptor type-1CAdd BLAST473

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NER5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8NER5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NER5

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8NER5

PeptideAtlas

More...
PeptideAtlasi
Q8NER5

PRoteomics IDEntifications database

More...
PRIDEi
Q8NER5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73204 [Q8NER5-1]
73205 [Q8NER5-2]
73206 [Q8NER5-3]
73207 [Q8NER5-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NER5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8NER5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000123612 Expressed in adipose tissue and 128 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NER5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000123612 Tissue enhanced (adipose tissue, breast)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Binds the type 2 receptor protein ACVR2A.

By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
126232, 13 interactors

Protein interaction database and analysis system

More...
IntActi
Q8NER5, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000243349

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8NER5 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8NER5

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini165 – 194GSPROSITE-ProRule annotationAdd BLAST30
Domaini195 – 485Protein kinasePROSITE-ProRule annotationAdd BLAST291

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2052 Eukaryota
ENOG410XQT0 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158842

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_000288_8_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NER5

KEGG Orthology (KO)

More...
KOi
K13568

Identification of Orthologs from Complete Genome Data

More...
OMAi
AMLTICT

Database of Orthologous Groups

More...
OrthoDBi
776697at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NER5

TreeFam database of animal gene trees

More...
TreeFami
TF314724

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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

The PANTHER Classification System

More...
PANTHERi
PTHR23255 PTHR23255, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07714 Pkinase_Tyr, 1 hit
PF08515 TGF_beta_GS, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00467 GS, 1 hit
SM00220 S_TKc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56112 SSF56112, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View 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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti231S → Y in AAH22530 (PubMed:15489334).Curated1
Sequence conflicti289V → M in AAH22530 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2205.1 [Q8NER5-1]
CCDS46432.1 [Q8NER5-2]
CCDS46433.1 [Q8NER5-3]
CCDS46434.1 [Q8NER5-4]

NCBI Reference Sequences

More...
RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000243349; ENSP00000243349; ENSG00000123612 [Q8NER5-1]
ENST00000335450; ENSP00000335178; ENSG00000123612 [Q8NER5-3]
ENST00000348328; ENSP00000335139; ENSG00000123612 [Q8NER5-2]
ENST00000409680; ENSP00000387168; ENSG00000123612 [Q8NER5-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
130399

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:130399

UCSC genome browser

More...
UCSCi
uc002tzk.5 human [Q8NER5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

SMRiQ8NER5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi126232, 13 interactors
IntActiQ8NER5, 3 interactors
STRINGi9606.ENSP00000243349

Chemistry databases

ChEMBLiCHEMBL5642

PTM databases

iPTMnetiQ8NER5
PhosphoSitePlusiQ8NER5

Polymorphism and mutation databases

BioMutaiACVR1C
DMDMi74762565

Proteomic databases

jPOSTiQ8NER5
MassIVEiQ8NER5
MaxQBiQ8NER5
PaxDbiQ8NER5
PeptideAtlasiQ8NER5
PRIDEiQ8NER5
ProteomicsDBi73204 [Q8NER5-1]
73205 [Q8NER5-2]
73206 [Q8NER5-3]
73207 [Q8NER5-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
2075 399 antibodies

The DNASU plasmid repository

More...
DNASUi
130399

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
130399
DisGeNETi130399
EuPathDBiHostDB:ENSG00000123612.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ACVR1C
HGNCiHGNC:18123 ACVR1C
HPAiENSG00000123612 Tissue enhanced (adipose tissue, breast)
MIMi608981 gene
neXtProtiNX_Q8NER5
OpenTargetsiENSG00000123612
PharmGKBiPA134908988

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2052 Eukaryota
ENOG410XQT0 LUCA
GeneTreeiENSGT00940000158842
HOGENOMiCLU_000288_8_1_1
InParanoidiQ8NER5
KOiK13568
OMAiAMLTICT
OrthoDBi776697at2759
PhylomeDBiQ8NER5
TreeFamiTF314724

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

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
130399 1 hit in 817 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ACVR1C human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ACVR1C

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
130399
PharosiQ8NER5 Tbio

Protein Ontology

More...
PROi
PR:Q8NER5
RNActiQ8NER5 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000123612 Expressed in adipose tissue and 128 other tissues
GenevisibleiQ8NER5 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiACV1C_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NER5
Secondary accession number(s): Q4ZFZ8
, Q86UL1, Q86UL2, Q8TBG2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: October 1, 2002
Last modified: June 17, 2020
This is version 159 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again