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Protein

Protein FAM83G

Gene

FAM83G

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May regulate the bone morphogenetic proteins (BMP) pathway.1 Publication

GO - Biological processi

  • BMP signaling pathway Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM83G
Alternative name(s):
Protein associated with SMAD11 Publication
Gene namesi
Name:FAM83G
Synonyms:PAWS11 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:32554. FAM83G.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi610 – 6101S → A: Completely abolishes phosphorylation by ALK3 in vitro. NEDD9 and ASNS activation in response to BMPs is abolished. 1 Publication

Organism-specific databases

PharmGKBiPA144596433.

Polymorphism and mutation databases

BioMutaiFAM83G.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 823822Protein FAM83GPRO_0000330817Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources
Modified residuei4 – 41PhosphoserineCombined sources
Modified residuei124 – 1241PhosphoserineCombined sources
Modified residuei127 – 1271PhosphoserineCombined sources
Modified residuei356 – 3561PhosphoserineCombined sources
Modified residuei610 – 6101Phosphoserine1 Publication
Modified residuei614 – 6141Phosphoserine1 Publication
Modified residuei616 – 6161Phosphoserine1 Publication
Modified residuei650 – 6501PhosphoserineCombined sources
Modified residuei666 – 6661PhosphoserineCombined sources

Post-translational modificationi

BMP signaling induces the phosphorylation of PAWS1 by BMPR1A at Ser-610, Ser-614 and Ser-616. In response to BMP phosphorylation at Ser-610 is necessary for the activation of SMAD4-independent BMP target genes such as NEDD9 and ASNS.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiA6ND36.
MaxQBiA6ND36.
PaxDbiA6ND36.
PeptideAtlasiA6ND36.
PRIDEiA6ND36.

PTM databases

iPTMnetiA6ND36.
PhosphoSiteiA6ND36.

Expressioni

Gene expression databases

BgeeiA6ND36.
CleanExiHS_FAM83G.
ExpressionAtlasiA6ND36. baseline and differential.
GenevisibleiA6ND36. HS.

Organism-specific databases

HPAiHPA023369.
HPA023940.

Interactioni

Subunit structurei

Found in a macromolecular complex with SMAD1. Interacts with SMAD1 (via MH2 domain); in a SMAD4-independent manner.1 Publication

Protein-protein interaction databases

BioGridi569917. 10 interactions.
IntActiA6ND36. 4 interactions.
STRINGi9606.ENSP00000343279.

Structurei

3D structure databases

ProteinModelPortaliA6ND36.
SMRiA6ND36. Positions 145-310.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi470 – 51142Pro-richAdd
BLAST
Compositional biasi583 – 5864Poly-Asp

Sequence similaritiesi

Belongs to the FAM83 family.Curated

Phylogenomic databases

eggNOGiENOG410IJIT. Eukaryota.
ENOG410YAC2. LUCA.
GeneTreeiENSGT00760000119168.
HOGENOMiHOG000112487.
HOVERGENiHBG097422.
InParanoidiA6ND36.
OMAiFEYLPTW.
OrthoDBiEOG73NG2R.
PhylomeDBiA6ND36.
TreeFamiTF330777.

Family and domain databases

InterProiIPR012461. DUF1669.
[Graphical view]
PANTHERiPTHR16181. PTHR16181. 1 hit.
PfamiPF07894. DUF1669. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A6ND36-1) [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
MAFSQVQCLD DNHVNWRSSE SKPEFFYSEE QRLALEALVA RGRDAFYEVL
60 70 80 90 100
KRENIRDFLS ELELKRILET IEVYDPGSED PRGTGPSQGP EDNGVGDGEE
110 120 130 140 150
ASGADGVPIE AEPLPSLEYW PQKSDRSIPQ LDLGWPDTIA YRGVTRASVY
160 170 180 190 200
MQPPIDGQAH IKEVVRKMIS QAQKVIAVVM DMFTDVDIFK DLLDAGFKRK
210 220 230 240 250
VAVYIIVDES NVKYFLHMCE RACMHLGHLK NLRVRSSGGT EFFTRSATKF
260 270 280 290 300
KGALAQKFMF VDGDRAVCGS YSFTWSAART DRNVISVLSG QVVEMFDRQF
310 320 330 340 350
QELYLMSHSV SLKGIPMEKE PEPEPIVLPS VVPLVPAGTV AKKLVNPKYA
360 370 380 390 400
LVKAKSVDEI AKISSEKQEA KKPLGLKGPA LAEHPGELPE LLPPIHPGLL
410 420 430 440 450
HLERANMFEY LPTWVEPDPE PGSDILGYIN IIDPNIWNPQ PSQMNRIKIR
460 470 480 490 500
DTSQASAQHQ LWKQSQDSRP RPEPCPPPEP SAPQDGVPAE NGLPQGDPEP
510 520 530 540 550
LPPVPKPRTV PVADVLARDS SDIGWVLELP KEEAPQNGTD HRLPRMAGPG
560 570 580 590 600
HAPLQRQLSV TQDDPESLGV GLPNGLDGVE EEDDDDYVTL SDQDSHSGSS
610 620 630 640 650
GRGPGPRRPS VASSVSEEYF EVREHSVPLR RRHSEQVANG PTPPPRRQLS
660 670 680 690 700
APHITRGTFV GPQGGSPWAQ SRGREEADAL KRMQAQRSTD KEAQGQQFHH
710 720 730 740 750
HRVPASGTRD KDGFPGPPRY RSAADSVQSS TRNAGPAMAG PHHWQAKGGQ
760 770 780 790 800
VPRLLPDPGS PRLAQNARPM TDGRATEEHP SPFGIPYSKL SQSKHLKART
810 820
GGSQWASSDS KRRAQAPRDR KDP
Length:823
Mass (Da):90,835
Last modified:January 15, 2008 - v2
Checksum:iFAAF2B78CB76725F
GO
Isoform 2 (identifier: A6ND36-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-248: Missing.
     249-271: KFKGALAQKFMFVDGDRAVCGSY → MGARGLGGGSRVMCLTSAPSLCC
     695-725: GQQFHHHRVPASGTRDKDGFPGPPRYRSAAD → VGQGPCTPGVTSPSLPATQELELLSSGLPCP
     726-823: Missing.

Show »
Length:477
Mass (Da):51,540
Checksum:iF83FADF2048A8D62
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti64 – 641L → F Found in patient with Joubert syndrome; unknown pathological significance. 1 Publication
Corresponds to variant rs371100508 [ dbSNP | Ensembl ].
VAR_075713
Natural varianti109 – 1091I → T.
Corresponds to variant rs2074283 [ dbSNP | Ensembl ].
VAR_053903
Natural varianti630 – 6301R → W Found in patient with Joubert syndrome; unknown pathological significance. 1 Publication
Corresponds to variant rs201046878 [ dbSNP | Ensembl ].
VAR_075714

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 248248Missing in isoform 2. 1 PublicationVSP_033120Add
BLAST
Alternative sequencei249 – 27123KFKGA…VCGSY → MGARGLGGGSRVMCLTSAPS LCC in isoform 2. 1 PublicationVSP_033121Add
BLAST
Alternative sequencei695 – 72531GQQFH…RSAAD → VGQGPCTPGVTSPSLPATQE LELLSSGLPCP in isoform 2. 1 PublicationVSP_033122Add
BLAST
Alternative sequencei726 – 82398Missing in isoform 2. 1 PublicationVSP_033123Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK123558 mRNA. Translation: BAC85645.1.
AC090286 Genomic DNA. No translation available.
BC105988 mRNA. Translation: AAI05989.1.
CCDSiCCDS42276.1. [A6ND36-1]
RefSeqiNP_001035088.2. NM_001039999.2. [A6ND36-1]
UniGeneiHs.710727.

Genome annotation databases

EnsembliENST00000345041; ENSP00000343279; ENSG00000188522. [A6ND36-1]
ENST00000388995; ENSP00000373647; ENSG00000188522. [A6ND36-1]
GeneIDi644815.
KEGGihsa:644815.
UCSCiuc002guw.4. human. [A6ND36-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK123558 mRNA. Translation: BAC85645.1.
AC090286 Genomic DNA. No translation available.
BC105988 mRNA. Translation: AAI05989.1.
CCDSiCCDS42276.1. [A6ND36-1]
RefSeqiNP_001035088.2. NM_001039999.2. [A6ND36-1]
UniGeneiHs.710727.

3D structure databases

ProteinModelPortaliA6ND36.
SMRiA6ND36. Positions 145-310.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi569917. 10 interactions.
IntActiA6ND36. 4 interactions.
STRINGi9606.ENSP00000343279.

PTM databases

iPTMnetiA6ND36.
PhosphoSiteiA6ND36.

Polymorphism and mutation databases

BioMutaiFAM83G.

Proteomic databases

EPDiA6ND36.
MaxQBiA6ND36.
PaxDbiA6ND36.
PeptideAtlasiA6ND36.
PRIDEiA6ND36.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000345041; ENSP00000343279; ENSG00000188522. [A6ND36-1]
ENST00000388995; ENSP00000373647; ENSG00000188522. [A6ND36-1]
GeneIDi644815.
KEGGihsa:644815.
UCSCiuc002guw.4. human. [A6ND36-1]

Organism-specific databases

CTDi644815.
GeneCardsiFAM83G.
H-InvDBHIX0027207.
HGNCiHGNC:32554. FAM83G.
HPAiHPA023369.
HPA023940.
MIMi615886. gene.
neXtProtiNX_A6ND36.
PharmGKBiPA144596433.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJIT. Eukaryota.
ENOG410YAC2. LUCA.
GeneTreeiENSGT00760000119168.
HOGENOMiHOG000112487.
HOVERGENiHBG097422.
InParanoidiA6ND36.
OMAiFEYLPTW.
OrthoDBiEOG73NG2R.
PhylomeDBiA6ND36.
TreeFamiTF330777.

Miscellaneous databases

GenomeRNAii644815.
PROiA6ND36.
SOURCEiSearch...

Gene expression databases

BgeeiA6ND36.
CleanExiHS_FAM83G.
ExpressionAtlasiA6ND36. baseline and differential.
GenevisibleiA6ND36. HS.

Family and domain databases

InterProiIPR012461. DUF1669.
[Graphical view]
PANTHERiPTHR16181. PTHR16181. 1 hit.
PfamiPF07894. DUF1669. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Tongue.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] OF 618-823 (ISOFORM 1).
    Tissue: Bone.
  4. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-666, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
    Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
    J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-666, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-666, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-4; SER-124; SER-127 AND SER-356, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-650, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma and Erythroleukemia.
  9. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-650, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  10. "Protein associated with SMAD1 (PAWS1/FAM83G) is a substrate for type I bone morphogenetic protein receptors and modulates bone morphogenetic protein signalling."
    Vogt J., Dingwell K.S., Herhaus L., Gourlay R., Macartney T., Campbell D., Smith J.C., Sapkota G.P.
    Open Biol. 4:130210-130210(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SMAD1, SUBCELLULAR LOCATION, PHOSPHORYLATION AT SER-610; SER-614 AND SER-616 BY BMPR1A, MUTAGENESIS OF SER-610, FUNCTION.
  11. Cited for: VARIANTS PHE-64 AND TRP-630.

Entry informationi

Entry nameiFA83G_HUMAN
AccessioniPrimary (citable) accession number: A6ND36
Secondary accession number(s): Q3KQZ4, Q6ZW60
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: January 15, 2008
Last modified: July 6, 2016
This is version 77 of the entry and version 2 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 17
    Human chromosome 17: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.