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    ACVR1 activin A receptor, type I [ Homo sapiens ]

    Gene ID: 90, updated on 12-May-2012
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    Summary

    Official Symbol
    ACVR1provided by HGNC
    Official Full Name
    activin A receptor, type Iprovided by HGNC
    Primary source
    HGNC:171
    See related
    Ensembl:ENSG00000115170; HPRD:00021; MIM:102576; Vega:OTTHUMG00000131967
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FOP; ALK2; SKR1; TSRI; ACTRI; ACVR1A; ACVRLK2
    Summary
    Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    2q23-q24
    Sequence :
    Chromosome: 2; NC_000002.11 (158592958..158732374, complement)
    See ACVR1 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene cytohesin 1 interacting protein Neighboring gene activin A receptor, type IC Neighboring gene metastasis associated 1 family, member 3 pseudogene Neighboring gene uridine phosphorylase 2 Neighboring gene protein tyrosine phosphatase type IVA, member 1 pseudogene 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. TSC-22 promotes transforming growth factor β-mediated cardiac myofibroblast differentiation by antagonizing Smad7 activity. Yan X, et al. Mol Cell Biol, 2011 Sep. PMID 21791611.
    2. Recurrent copy number gains of ACVR1 and corresponding transcript overexpression are associated with survival in head and neck squamous cell carcinomas. Ambrosio EP, et al. Histopathology, 2011 Jul. PMID 21668474.
    3. Prognostic effects and regulation of activin A, maspin, and the androgen receptor in upper urinary tract urothelial carcinoma. Rau KM, et al. Anticancer Res, 2011 May. PMID 21617230.
    4. A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H. Ohte S, et al. Biochem Biophys Res Commun, 2011 Apr 1. PMID 21377447.
    5. Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1. Leikauf GD, et al. Am J Respir Crit Care Med, 2011 Jun 1. PMID 21297076.

    See all (77) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. copy number alterations at 2q24 can be involved in ACVR1 overexpression, which is associated with longer overall survival in laryngeal carcinomas
      Title: Recurrent copy number gains of ACVR1 and corresponding transcript overexpression are associated with survival in head and neck squamous cell carcinomas.
    2. Low activin A in the cytosol is associated with upper urinary tract urothelial carcinoma.
      Title: Prognostic effects and regulation of activin A, maspin, and the androgen receptor in upper urinary tract urothelial carcinoma.
    3. These data indicate that in the context of a Down's syndrome background, ALK2-mediated reduction of BMP signaling may contribute to congenital heart defects.
      Title: ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.
    4. These findings suggest that ALK2(L196P) is an activated BMP receptor equivalent to ALK2(R206H) and that ALK2(L196P) activity may be suppressed in vivo by a novel molecular mechanism in fibrodysplasia ossificans progressiva patients with this mutation.
      Title: A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H.
    5. in two cases of fibrodysplasia ossificans progressiva, heterozygous missense mutation 617G>A (R206H) was found
      Title: Report of two FOP cases with 617G>A mutation in the ACVR1 gene from Chinese population.
    6. Progressive heterotopic ossification along with congenital malformation of the great toes, the two major clinical features that define classic FOP, led to a suspicion of FOP and to the definitive screening of the ACVR1 gene
      Title: Fibrodysplasia ossificans progressiva (FOP): watch the great toes!
    7. ACVR1 is associated with acute lung injury in mice
      Title: Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1.
    8. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
    9. The R206H mutation in ALK2 confers constitutive activity to the mutant receptor, sensitizes mesenchymal cells to BMP-induced osteoblast differentiation, and stimulates new bone formation.
      Title: ALK2 R206H mutation linked to fibrodysplasia ossificans progressiva confers constitutive activity to the BMP type I receptor and sensitizes mesenchymal cells to BMP-induced osteoblast differentiation and bone formation.
    10. The impact of ACVR1 R206H mutation on BMP signaling and its downstream signaling cascades in murine myogenic C2C12 cells and HEK 293 cells, was studied.
      Title: Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva.
    Submit: New GeneRIF Correction See all (38)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Fibrodysplasia ossificans progressiva

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q04771 P63010 AP2B1    HPRD  PubMed  
    Q04771 P12643 BMP2    HPRD  PubMed  
    Q04771 P18075 BMP7    HPRD  PubMed  
    Q04771 O94921 CDK14    HPRD  PubMed  
    Q04771 P15882 CHN1    HPRD  PubMed  
    Q04771 Q92793 CREBBP    HPRD  PubMed  
    Q04771 IQ motif and WD repeats 1 DCAF6    HPRD  PubMed  
    Q04771 Q9UII6 DUSP13    HPRD  PubMed  
    Q04771 P17813 ENG    HPRD  PubMed  
    Q04771 Q9NW38 FANCL    HPRD  PubMed  
    Q04771 Q8TB52 FBXO30    HPRD  PubMed  
    Q04771 O14526 FCHO1    HPRD  PubMed  
    Q04771 Q6ZV73 FGD6    HPRD  PubMed  
    Q04771 Q02790 FKBP4    HPRD  PubMed  
    Q04771 P49354 FNTA    HPRD  PubMed  
    Q04771 P43026 GDF5    HPRD  PubMed  
    Q04771 Immunoglobulin superfamily member 1 IGSF1    HPRD  PubMed  
    Q04771 O14920 IKBKB    HPRD  PubMed  
    Q04771 P08476 INHBA    HPRD  PubMed  
    Q04771 P09529 INHBB    HPRD  PubMed  
    Q04771 P55103 INHBC    HPRD  PubMed  
    Q04771 Hypothetical protein FLJ33790 KLHL35    HPRD  PubMed  
    Q04771 Q86SG6 NEK8    HPRD  PubMed  
    Q04771 Q9NYS0 NKIRAS1    HPRD  PubMed  
    Q04771 P01111 NRAS    HPRD  PubMed  
    Q04771 Q9H093 NUAK2    HPRD  PubMed  
    Q04771 Q13153 PAK1    HPRD  PubMed  
    Q04771 P08567 PLEK    HPRD  PubMed  
    Q04771 Q9UF11 PLEKHB1    HPRD  PubMed  
    Q04771 Pleckstrin homology domain containing family J member 1 PLEKHJ1    HPRD  PubMed  
    Q04771 Q9H0T7 RAB17    HPRD  PubMed  
    Q04771 P57735 RAB25    HPRD  PubMed  
    Q04771 Q9H082 RAB33B    HPRD  PubMed  
    Q04771 P20337 RAB3B    HPRD  PubMed  
    Q04771 Q9NRW1 RAB6B    HPRD  PubMed  
    Q04771 P10114 RAP2A    HPRD  PubMed  
    Q04771 Q96D21 RASD2    HPRD  PubMed  
    Q04771 RAS like family 12 protein RASL12    HPRD  PubMed  
    Q04771 Ras homolog enriched in brain like 1 RHEBL1    HPRD  PubMed  
    Q04771 O00212 RHOD    HPRD  PubMed  
    Q04771 Q9H4E5 RHOJ    HPRD  PubMed  
    Q04771 P62979 RPS27A    HPRD  PubMed  
    Q04771 P62070 RRAS2    HPRD  PubMed  
    Q04771 P19793 RXRA    HPRD  PubMed  
    Q04771 Q15797 SMAD1    HPRD  PubMed  
    Q04771 Q99717 SMAD5    HPRD  PubMed  
    Q04771 O15198 SMAD9    HPRD  PubMed  
    Q04771 O14544 SOCS6    HPRD  PubMed  
    Q04771 Q9UNK0 STX8    HPRD  PubMed  
    Q04771 P36897 TGFBR1    HPRD  PubMed  
    Q04771 P37243 THRB    HPRD  PubMed  
    Q04771 Q96AE7 TTC17    HPRD  PubMed  
    Q04771 Tetratricopeptide repeat domain 27 TTC27    HPRD  PubMed  
    Q04771 P62987 UBA52    HPRD  PubMed  
    Q04771 Q969T4 UBE2E3    HPRD  PubMed  
    Q04771 SAPK substrate protein 1 UBXN1    HPRD  PubMed  
    Q04771 Q53GS9 USP39    HPRD  PubMed  
    Q04771 P11473 VDR    HPRD  PubMed  
    Q04771 Ventricular zone expressed PH domain homolog 1 VEPH1    HPRD  PubMed  
    Q04771 Q9GZS3 WDR61    HPRD  PubMed  
    BioGRID:106605 BioGRID:106606 ACVR1B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106605 BioGRID:214914 Ap2b1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:107123 BMP7    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106605 BioGRID:107127 BMPR2    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:106605 BioGRID:202129 Cdk14    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:224378 Chn1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:108337 ENG    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106605 BioGRID:108625 FNTA    BioGRID  PubMed Two-hybrid 
    BioGRID:106605 BioGRID:211887 Fancl    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:208300 Fbxo3    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:216425 Fcho1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:199529 Fgd6    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:199685 Fkbp4    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:113839 GDF5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106605 BioGRID:109763 IGSF1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106605 BioGRID:200601 Ikbkb    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:212191 Ilkap    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:200870 Jub    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:212503 Naa20    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:213637 Nkiras1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:201843 Nras    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:216519 Nuak2    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:207832 Plek    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:205156 Plekhb1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:202535 Rab17    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:202543 Rab33b    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:213749 Rab3b    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:234782 Rab6b    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:217966 Rap2a    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:217250 Rasd2    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:213261 Rhebl1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:213337 Rhobtb1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:198198 Rhod    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:219817 Rhoj    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:219309 Rps27a    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:211811 Rras2    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:110261 SMAD1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106605 BioGRID:110265 SMAD5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106605 BioGRID:121411 SMURF1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106605 BioGRID:201982 Sqstm1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:203521 Stat1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:207739 Stx8    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:112906 TGFBR2    BioGRID  PubMed Two-hybrid 
    BioGRID:106605 BioGRID:114374 TSC22D1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106605 BioGRID:204163 Tgfbr1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:204405 Ube2e3    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:212312 Ube2r2    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:200956 Uhmk1    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:206018 Usp21    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:205726 Usp39    BioGRID  PubMed Affinity Capture-Luminescence 
    BioGRID:106605 BioGRID:211379 Wdr61    BioGRID  PubMed Affinity Capture-Luminescence 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    SMAD binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    activin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to activin receptor activity, type I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    follistatin binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    receptor signaling protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    transforming growth factor beta binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transforming growth factor beta receptor activity, type I IEA
    Inferred from Electronic Annotation
    more info
    		  
    transmembrane receptor protein serine/threonine kinase activity RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acute inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    cellular response to glucocorticoid stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    embryo development IEA
    Inferred from Electronic Annotation
    more info
    		  
    gastrulation with mouth forming second IEA
    Inferred from Electronic Annotation
    more info
    		  
    germ cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    heart development IEA
    Inferred from Electronic Annotation
    more info
    		  
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    mesoderm development IEA
    Inferred from Electronic Annotation
    more info
    		  
    mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of activin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    negative regulation of signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    neural crest cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    patterning of blood vessels IEA
    Inferred from Electronic Annotation
    more info
    		  
    pharyngeal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    positive regulation of transcription, DNA-dependent IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    regulation of ossification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    regulation of skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transmembrane receptor protein serine/threonine kinase signaling pathway RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    urogenital system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    activin receptor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    activin receptor type-1
    Names
    activin receptor type-1
    activin receptor type I
    hydroxyalkyl-protein kinase
    activin receptor-like kinase 2
    TGF-B superfamily receptor type I
    activin A receptor, type II-like kinase 2
    serine/threonine-protein kinase receptor R1
    NP_001096.1
    NP_001104537.1
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008004.1 RefSeqGene

      Range
      4250..143666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001105.4 → NP_001096.1  activin receptor type-1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC013731, BC033867, L02911
      Consensus CDS
      CCDS2206.1
      UniProtKB/TrEMBL
      D3DPA4
      UniProtKB/Swiss-Prot
      Q04771
      Related
      ENSP00000263640, OTTHUMP00000162806, ENST00000263640, OTTHUMT00000254927
      Conserved Domains (5) summary
      cd00180
      Location:214 – 413
      Blast Score: 347
      PKc; Catalytic domain of Protein Kinases
      pfam01064
      Location:33 – 104
      Blast Score: 156
      Activin_recp; Activin types I and II receptor domain
      cl02621
      Location:178 – 206
      Blast Score: 158
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      pfam00069
      Location:208 – 493
      Blast Score: 524
      Pkinase; Protein kinase domain
      cl09925
      Location:334 – 498
      Blast Score: 133
      PKc_like; Protein Kinases, catalytic domain

    2. NM_001111067.2 → NP_001104537.1  activin receptor type-1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR, as compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC013731, BC033867, DA796090, L02911
      Consensus CDS
      CCDS2206.1
      UniProtKB/TrEMBL
      D3DPA4
      UniProtKB/Swiss-Prot
      Q04771
      Related
      ENSP00000405004, ENST00000434821
      Conserved Domains (5) summary
      cd00180
      Location:214 – 413
      Blast Score: 347
      PKc; Catalytic domain of Protein Kinases
      pfam01064
      Location:33 – 104
      Blast Score: 156
      Activin_recp; Activin types I and II receptor domain
      cl02621
      Location:178 – 206
      Blast Score: 158
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
      pfam00069
      Location:208 – 493
      Blast Score: 524
      Pkinase; Protein kinase domain
      cl09925
      Location:334 – 498
      Blast Score: 133
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      158592958..158732374, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      150478249..150616526, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic A38807.1 CAA02405.1
    genomic AC013731.10 AAY24272.1
    genomic AC019186.9 AAY15094.1
    genomic CH471058.2 EAX11438.1
      EAX11439.1
      EAX11440.1
      EAX11441.1
      EAX11442.1
      EAX11443.1
    genomic HB448223.1 CAZ91465.1
    genomic HI574330.1 CBX47654.1
    genomic HM015588.1 ADL14509.1
    mRNA AK297765.1 BAG60113.1
    mRNA AK313630.1 None
    mRNA BC033867.1 AAH33867.1
    mRNA BC036748.1 None
    mRNA DA796090.1 None
    mRNA L02911.1 AAA36614.1
    mRNA Z22534.1 CAA80256.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q04771.1 GenPept UniProtKB/Swiss-Prot:Q04771
    Q53SF4 GenPept UniProtKB/TrEMBL:Q53SF4
    Q53SV1 GenPept UniProtKB/TrEMBL:Q53SV1
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

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