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UniProtKB/Swiss-Prot entry Q8NER5


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name ACV1C_HUMAN
Primary accession number Q8NER5
Secondary accession numbers Q4ZFZ8 Q86UL1 Q86UL2 Q8TBG2
Integrated into Swiss-Prot on October 25, 2005
Sequence was last modified on October 1, 2002 (Sequence version 1)
Annotations were last modified on    June 10, 2008 (Entry version 53)
Name and origin of the protein
Protein name Activin receptor type-1C [Precursor]
Synonyms EC 2.7.11.30
ACTR-IC
Activin receptor-like kinase 7
ALK-7
Gene name
Name: ACVR1C
Synonyms: ALK7
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, AND MUTAGENESIS OF LYS-222.
TISSUE=Brain;
PubMed=12063393 [NCBI, ExPASy, EBI, Israel, Japan]
Bondestam J., Huotari M.-A., Moren A., Ustinov J., Kaivo-Oja N., Kallio J., Horelli-Kuitunen N., Aaltonen J., Fujii M., Moustakas A., Ten Dijke P., Otonkoski T., Ritvos O.;
"cDNA cloning, expression studies and chromosome mapping of human type I serine/threonine kinase receptor ALK7 (ACVR1C).";
Cytogenet. Cell Genet. 95:157-162(2001).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
TISSUE=Placenta;
DOI=10.1095/biolreprod.102.013045; PubMed=12606401 [NCBI, ExPASy, EBI, Israel, Japan]
Roberts H.J., Hu S., Qiu Q., Leung P.C.K., Caniggia I., Gruslin A., Tsang B., Peng C.;
"Identification of novel isoforms of activin receptor-like kinase 7 (ALK7) generated by alternative splicing and expression of ALK7 and its ligand, Nodal, in human placenta.";
Biol. Reprod. 68:1719-1726(2003).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03466; PubMed=15815621 [NCBI, ExPASy, EBI, Israel, Japan]
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.";
Nature 434:724-731(2005).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
FUNCTION, AND MUTAGENESIS OF THR-194 AND LYS-222.
DOI=10.1210/jc.2004-0893; PubMed=15531507 [NCBI, ExPASy, EBI, Israel, Japan]
Xu G., Zhong Y., Munir S., Yang B.B., Tsang B.K., Peng C.;
"Nodal induces apoptosis and inhibits proliferation in human epithelial ovarian cancer cells via activin receptor-like kinase 7.";
J. Clin. Endocrinol. Metab. 89:5523-5534(2004).
[6]
VARIANTS [LARGE SCALE ANALYSIS] THR-195; ARG-216; ARG-267; VAL-355 AND VAL-482.
DOI=10.1038/nature05610; PubMed=17344846 [NCBI, ExPASy, EBI, Israel, Japan]
Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G., Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.;
"Patterns of somatic mutation in human cancer genomes.";
Nature 446:153-158(2007).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AY127050; AAM93495.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF525679; AAP21993.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF525680; AAP21994.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF525681; AAP21995.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC019186; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
AC079750; AAX88951.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC022530; AAH22530.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_001104501.1; -.
NP_001104502.1; -.
NP_001104503.1; -.
NP_660302.2; -.
UniGene Hs.352338
3D structure databases
HSSP P36897; 1IAS. [HSSP ENTRY / PDB]
SMR Q8NER5; 161-489.
ModBase Q8NER5.
Organism-specific databases
H-InvDB HIX0002523; -.
HGNC HGNC:18123; ACVR1C.
GeneLynx ACVR1C; Homo sapiens.
GenAtlas ACVR1C.
HPA HPA007982; -.
MIM 608981; gene. [NCBI / EBI]
PharmGKB PA134908988; -.
GeneCards Q8NER5.
Gene expression databases
ArrayExpress Q8NER5; -.
CleanEx HS_ACVR1C; -.
GermOnline ENSG00000123612; Homo sapiens.
Ontologies
GO
GO:0048179; Cellular component: activin receptor complex (inferred from direct assay from UniProtKB).
GO:0016361; Molecular function: activin receptor activity, type I (inferred from direct assay from UniProtKB).
GO:0005524; Molecular function: ATP binding (inferred by curator from UniProtKB).
GO:0046872; Molecular function: metal ion binding (inferred by curator from UniProtKB).
GO:0006468; Biological process: protein amino acid phosphorylation (inferred by curator from UniProtKB).
GO:0042981; Biological process: regulation of apoptosis (inferred from direct assay from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR000472; Activin_rcpt.
IPR000719; Prot_kinase_core.
IPR017441; Protein_kinase_ATP_bd_CS.
IPR008271; Ser_thr_pkin_AS.
IPR003605; TGF_beta_rcpt_GS.
Graphical view of domain structure.
Pfam PF01064; Activin_recp; 1.
PF08515; TGF_beta_GS; 1.
Pfam graphical view of domain structure.
ProDom PD000001; Prot_kinase; 1.
[Domain structure / List of seq. sharing at least 1 domain]
SMART SM00467; GS; 1.
SMART graphical view of domain structure.
PROSITE PS51256; GS; 1.
PS00107; PROTEIN_KINASE_ATP; 1.
PS50011; PROTEIN_KINASE_DOM; 1.
PS00108; PROTEIN_KINASE_ST; 1.
PROSITE graphical view of domain structure (profiles).
BLOCKS Q8NER5.
Genome annotation databases
Ensembl ENSG00000123612; Homo sapiens. [Contig view]
GeneID 130399; -.
KEGG hsa:130399; -.
Phylogenomic databases
HOGENOM Q8NER5; -.
HOVERGEN Q8NER5; -.
Other
SOURCE ACVR1C; Homo sapiens.
ProtoNet Q8NER5.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Apoptosis; ATP-binding; Kinase; Magnesium; Manganese; Membrane; Metal-binding; Nucleotide-binding; Polymorphism; Receptor; Serine/threonine-protein kinase; Signal; Transferase; Transmembrane.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
SIGNAL   1    20  20     Potential. 
CHAIN   21   493  473     Activin receptor type-1C. PRO_0000042628
TOPO_DOM   22   113  92     Extracellular (Potential). 
TRANSMEM   114   134  21     Potential. 
TOPO_DOM   135   493  359     Cytoplasmic (Potential). 
DOMAIN   165   194  30     GS. 
DOMAIN   195   485  291     Protein kinase. 
NP_BIND   201   209  9     ATP (By similarity). 
ACT_SITE   323   323        Proton acceptor (By similarity). 
BINDING   222   222        ATP (By similarity). 
VAR_SEQ   1    50        Missing (in isoform 4). VSP_051840
VAR_SEQ   102   258        Missing (in isoform 2). VSP_051841
VAR_SEQ   102   181        Missing (in isoform 3). VSP_051842
VARIANT   195   195  1     I -> T. VAR_041407 [3D]
VARIANT   216   216  1     G -> R. VAR_041408 [3D]
VARIANT   267   267  1     W -> R (in a lung squamous cell carcinoma sample; somatic mutation). VAR_041409 [3D]
VARIANT   355   355  1     I -> V. VAR_041410 [3D]
VARIANT   482   482  1     I -> V. VAR_041411 [3D]
MUTAGEN   194   194        T->D: Pro-apoptotic. 
MUTAGEN   222   222        K->R: Loss of response to NODAL and SMAD2 phosphorylation. 
CONFLICT   231   231        S -> Y (in Ref. 4; AAH22530). 
CONFLICT   289   289        V -> M (in Ref. 4; AAH22530). 
Sequence information
Length: 493 AA [This is the length of the unprocessed precursor] Molecular weight: 54871 Da [This is the MW of the unprocessed precursor] CRC64: 5A10F259679204CB [This is a checksum on the sequence]
        10         20         30         40         50         60 
MTRALCSALR QALLLLAAAA ELSPGLKCVC LLCDSSNFTC QTEGACWASV MLTNGKEQVI 

        70         80         90        100        110        120 
KSCVSLPELN AQVFCHSSNN VTKTECCFTD FCNNITLHLP TASPNAPKLG PMELAIIITV 

       130        140        150        160        170        180 
PVCLLSIAAM LTVWACQGRQ CSYRKKKRPN VEEPLSECNL VNAGKTLKDL IYDVTASGSG 

       190        200        210        220        230        240 
SGLPLLVQRT IARTIVLQEI VGKGRFGEVW HGRWCGEDVA VKIFSSRDER SWFREAEIYQ 

       250        260        270        280        290        300 
TVMLRHENIL GFIAADNKDN GTWTQLWLVS EYHEQGSLYD YLNRNIVTVA GMIKLALSIA 

       310        320        330        340        350        360 
SGLAHLHMEI VGTQGKPAIA HRDIKSKNIL VKKCETCAIA DLGLAVKHDS ILNTIDIPQN 

       370        380        390        400        410        420 
PKVGTKRYMA PEMLDDTMNV NIFESFKRAD IYSVGLVYWE IARRCSVGGI VEEYQLPYYD 

       430        440        450        460        470        480 
MVPSDPSIEE MRKVVCDQKF RPSIPNQWQS CEALRVMGRI MRECWYANGA ARLTALRIKK 

       490 
TISQLCVKED CKA 

Q8NER5 in FASTA format

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