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Q8NER5

- ACV1C_HUMAN

UniProt

Q8NER5 - ACV1C_HUMAN

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Protein

Activin receptor type-1C

Gene

ACVR1C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

Magnesium or manganese.Curated

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei222 – 2221ATPBy similarityPROSITE-ProRule annotation
Active sitei323 – 3231Proton acceptorBy similarityPROSITE-ProRule annotation

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi201 – 2099ATPBy similarityPROSITE-ProRule annotation

GO - Molecular functioni

  1. activin receptor activity, type I Source: UniProtKB
  2. ATP binding Source: UniProtKB-KW
  3. growth factor binding Source: UniProt
  4. metal ion binding Source: UniProtKB
  5. nodal binding Source: BHF-UCL
  6. receptor signaling protein serine/threonine kinase activity Source: InterPro
  7. transforming growth factor beta-activated receptor activity Source: InterPro

GO - Biological processi

  1. apoptotic nuclear changes Source: UniProtKB
  2. cell differentiation Source: UniProtKB
  3. lipid storage Source: Ensembl
  4. negative regulation of chorionic trophoblast cell proliferation Source: BHF-UCL
  5. negative regulation of insulin secretion Source: Ensembl
  6. negative regulation of trophoblast cell migration Source: BHF-UCL
  7. nodal signaling pathway Source: BHF-UCL
  8. positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: BHF-UCL
  9. protein phosphorylation Source: UniProtKB
  10. response to dietary excess Source: Ensembl
  11. response to glucose Source: Ensembl
  12. response to insulin Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Receptor, Serine/threonine-protein kinase, Transferase

Keywords - Biological processi

Apoptosis

Keywords - Ligandi

ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.11.30. 2681.
ReactomeiREACT_111057. Signaling by NODAL.
REACT_111059. Regulation of signaling by NODAL.
REACT_150238. Signaling by Activin.
SignaLinkiQ8NER5.

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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:18123. ACVR1C.

Subcellular locationi

Membrane 1 Publication; Single-pass type I membrane protein 1 Publication

GO - Cellular componenti

  1. activin receptor complex Source: UniProtKB
  2. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi194 – 1941T → D: Pro-apoptotic. 1 Publication
Mutagenesisi222 – 2221K → R: Loss of response to NODAL and SMAD2 phosphorylation. 2 Publications

Organism-specific databases

PharmGKBiPA134908988.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence AnalysisAdd
BLAST
Chaini21 – 493473Activin receptor type-1CPRO_0000042628Add
BLAST

Proteomic databases

PaxDbiQ8NER5.
PRIDEiQ8NER5.

PTM databases

PhosphoSiteiQ8NER5.

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

BgeeiQ8NER5.
CleanExiHS_ACVR1C.
ExpressionAtlasiQ8NER5. baseline and differential.
GenevestigatoriQ8NER5.

Organism-specific databases

HPAiHPA007982.
HPA011933.

Interactioni

Subunit structurei

Binds the type 2 receptor protein ACVR2A.By similarity

Protein-protein interaction databases

BioGridi126232. 2 interactions.
IntActiQ8NER5. 3 interactions.
STRINGi9606.ENSP00000243349.

Structurei

3D structure databases

ProteinModelPortaliQ8NER5.
SMRiQ8NER5. Positions 25-97, 190-485.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 11392ExtracellularSequence AnalysisAdd
BLAST
Topological domaini135 – 493359CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei114 – 13421HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini165 – 19430GSPROSITE-ProRule annotationAdd
BLAST
Domaini195 – 485291Protein kinasePROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 GS domain.PROSITE-ProRule annotation
Contains 1 protein kinase domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0515.
GeneTreeiENSGT00760000118876.
HOGENOMiHOG000230587.
HOVERGENiHBG054502.
InParanoidiQ8NER5.
KOiK13568.
OMAiWACQGRQ.
OrthoDBiEOG7Q8CN3.
PhylomeDBiQ8NER5.
TreeFamiTF314724.

Family and domain databases

InterProiIPR000472. Activin_rcpt.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR008271. Ser/Thr_kinase_AS.
IPR003605. TGF_beta_rcpt_GS.
IPR000333. TGFB_receptor.
[Graphical view]
PANTHERiPTHR23255. PTHR23255. 1 hit.
PfamiPF01064. Activin_recp. 1 hit.
PF00069. Pkinase. 1 hit.
PF08515. TGF_beta_GS. 1 hit.
[Graphical view]
SMARTiSM00467. GS. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS51256. GS. 1 hit.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view]

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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti231 – 2311S → Y in AAH22530. (PubMed:15489334)Curated
Sequence conflicti289 – 2891V → M in AAH22530. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti195 – 1951I → T.1 Publication
Corresponds to variant rs56188432 [ dbSNP | Ensembl ].
VAR_041407
Natural varianti216 – 2161G → R.1 Publication
VAR_041408
Natural varianti267 – 2671W → R in a lung squamous cell carcinoma sample; somatic mutation. 1 Publication
VAR_041409
Natural varianti355 – 3551I → V.1 Publication
Corresponds to variant rs35500979 [ dbSNP | Ensembl ].
VAR_041410
Natural varianti482 – 4821I → V.1 Publication
Corresponds to variant rs7594480 [ dbSNP | Ensembl ].
VAR_041411

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5050Missing in isoform 4. 1 PublicationVSP_051840Add
BLAST
Alternative sequencei102 – 258157Missing in isoform 2. 1 PublicationVSP_051841Add
BLAST
Alternative sequencei102 – 18180Missing in isoform 3. 1 PublicationVSP_051842Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.4. human. [Q8NER5-1]
uc002tzl.4. human. [Q8NER5-3]
uc010fof.3. human. [Q8NER5-2]

Polymorphism databases

DMDMi74762565.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS2205.1. [Q8NER5-1 ]
CCDS46432.1. [Q8NER5-2 ]
CCDS46433.1. [Q8NER5-3 ]
CCDS46434.1. [Q8NER5-4 ]
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 ]
UniGenei Hs.562901.

3D structure databases

ProteinModelPortali Q8NER5.
SMRi Q8NER5. Positions 25-97, 190-485.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126232. 2 interactions.
IntActi Q8NER5. 3 interactions.
STRINGi 9606.ENSP00000243349.

Chemistry

ChEMBLi CHEMBL5642.

PTM databases

PhosphoSitei Q8NER5.

Polymorphism databases

DMDMi 74762565.

Proteomic databases

PaxDbi Q8NER5.
PRIDEi Q8NER5.

Protocols and materials databases

DNASUi 130399.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000243349 ; ENSP00000243349 ; ENSG00000123612 . [Q8NER5-1 ]
ENST00000335450 ; ENSP00000335178 ; ENSG00000123612 . [Q8NER5-3 ]
ENST00000348328 ; ENSP00000335139 ; ENSG00000123612 . [Q8NER5-2 ]
ENST00000409680 ; ENSP00000387168 ; ENSG00000123612 . [Q8NER5-4 ]
GeneIDi 130399.
KEGGi hsa:130399.
UCSCi uc002tzk.4. human. [Q8NER5-1 ]
uc002tzl.4. human. [Q8NER5-3 ]
uc010fof.3. human. [Q8NER5-2 ]

Organism-specific databases

CTDi 130399.
GeneCardsi GC02M158352.
HGNCi HGNC:18123. ACVR1C.
HPAi HPA007982.
HPA011933.
MIMi 608981. gene.
neXtProti NX_Q8NER5.
PharmGKBi PA134908988.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0515.
GeneTreei ENSGT00760000118876.
HOGENOMi HOG000230587.
HOVERGENi HBG054502.
InParanoidi Q8NER5.
KOi K13568.
OMAi WACQGRQ.
OrthoDBi EOG7Q8CN3.
PhylomeDBi Q8NER5.
TreeFami TF314724.

Enzyme and pathway databases

BRENDAi 2.7.11.30. 2681.
Reactomei REACT_111057. Signaling by NODAL.
REACT_111059. Regulation of signaling by NODAL.
REACT_150238. Signaling by Activin.
SignaLinki Q8NER5.

Miscellaneous databases

GeneWikii ACVR1C.
GenomeRNAii 130399.
NextBioi 82739.
PROi Q8NER5.
SOURCEi Search...

Gene expression databases

Bgeei Q8NER5.
CleanExi HS_ACVR1C.
ExpressionAtlasi Q8NER5. baseline and differential.
Genevestigatori Q8NER5.

Family and domain databases

InterProi IPR000472. Activin_rcpt.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR008271. Ser/Thr_kinase_AS.
IPR003605. TGF_beta_rcpt_GS.
IPR000333. TGFB_receptor.
[Graphical view ]
PANTHERi PTHR23255. PTHR23255. 1 hit.
Pfami PF01064. Activin_recp. 1 hit.
PF00069. Pkinase. 1 hit.
PF08515. TGF_beta_GS. 1 hit.
[Graphical view ]
SMARTi SM00467. GS. 1 hit.
[Graphical view ]
SUPFAMi SSF56112. SSF56112. 1 hit.
PROSITEi PS51256. GS. 1 hit.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "cDNA cloning, expression studies and chromosome mapping of human type I serine/threonine kinase receptor ALK7 (ACVR1C)."
    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.
    Cytogenet. Cell Genet. 95:157-162(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, MUTAGENESIS OF LYS-222.
    Tissue: Brain1 Publication.
  2. "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."
    Roberts H.J., Hu S., Qiu Q., Leung P.C.K., Caniggia I., Gruslin A., Tsang B., Peng C.
    Biol. Reprod. 68:1719-1726(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: PlacentaImported.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    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.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: BrainImported.
  5. "Nodal induces apoptosis and inhibits proliferation in human epithelial ovarian cancer cells via activin receptor-like kinase 7."
    Xu G., Zhong Y., Munir S., Yang B.B., Tsang B.K., Peng C.
    J. Clin. Endocrinol. Metab. 89:5523-5534(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, MUTAGENESIS OF THR-194 AND LYS-222.
  6. "Patterns of somatic mutation in human cancer genomes."
    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.
    Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-195; ARG-216; ARG-267; VAL-355 AND VAL-482.

Entry informationi

Entry nameiACV1C_HUMAN
AccessioniPrimary (citable) accession number: Q8NER5
Secondary accession number(s): Q4ZFZ8
, Q86UL1, Q86UL2, Q8TBG2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 122 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3