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Protein

Protein FAM83G

Gene

FAM83G

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

Functioni

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

GO - Biological processi

  • BMP signaling pathway Source: UniProtKB

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

EuPathDBiHostDB:ENSG00000188522.14
HGNCiHGNC:32554 FAM83G
MIMi615886 gene
neXtProtiNX_A6ND36

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi610S → A: Completely abolishes phosphorylation by ALK3 in vitro. NEDD9 and ASNS activation in response to BMPs is abolished. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000188522
PharmGKBiPA144596433

Polymorphism and mutation databases

BioMutaiFAM83G

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00003308172 – 823Protein FAM83GAdd BLAST822

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei4PhosphoserineCombined sources1
Modified residuei124PhosphoserineCombined sources1
Modified residuei127PhosphoserineCombined sources1
Modified residuei356PhosphoserineCombined sources1
Modified residuei610Phosphoserine1 Publication1
Modified residuei614Phosphoserine1 Publication1
Modified residuei616Phosphoserine1 Publication1
Modified residuei650PhosphoserineCombined sources1
Modified residuei666PhosphoserineCombined sources1

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
PRIDEiA6ND36

PTM databases

iPTMnetiA6ND36
PhosphoSitePlusiA6ND36

Expressioni

Gene expression databases

BgeeiENSG00000188522
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 interactors
IntActiA6ND36, 4 interactors
STRINGi9606.ENSP00000343279

Structurei

3D structure databases

ProteinModelPortaliA6ND36
SMRiA6ND36
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi470 – 511Pro-richAdd BLAST42
Compositional biasi583 – 586Poly-Asp4

Sequence similaritiesi

Belongs to the FAM83 family.Curated

Phylogenomic databases

eggNOGiENOG410IJIT Eukaryota
ENOG410YAC2 LUCA
GeneTreeiENSGT00760000119168
HOGENOMiHOG000112487
HOVERGENiHBG097422
InParanoidiA6ND36
OMAiFEYLPTW
OrthoDBiEOG091G023W
PhylomeDBiA6ND36
TreeFamiTF330777

Family and domain databases

InterProiView protein in InterPro
IPR012461 FAM83
PANTHERiPTHR16181 PTHR16181, 1 hit
PfamiView protein in Pfam
PF07894 DUF1669, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_07571364L → F Found in patient with Joubert syndrome; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs371100508Ensembl.1
Natural variantiVAR_053903109I → T. Corresponds to variant dbSNP:rs2074283Ensembl.1
Natural variantiVAR_075714630R → W Found in patient with Joubert syndrome; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201046878Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0331201 – 248Missing in isoform 2. 1 PublicationAdd BLAST248
Alternative sequenceiVSP_033121249 – 271KFKGA…VCGSY → MGARGLGGGSRVMCLTSAPS LCC in isoform 2. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_033122695 – 725GQQFH…RSAAD → VGQGPCTPGVTSPSLPATQE LELLSSGLPCP in isoform 2. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_033123726 – 823Missing in isoform 2. 1 PublicationAdd BLAST98

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]
XP_016880442.1, XM_017024953.1 [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

Similar proteinsi

Entry informationi

Entry nameiFA83G_HUMAN
AccessioniPrimary (citable) accession number: A6ND36
Secondary accession number(s): Q3KQZ4, Q6ZW60
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: January 15, 2008
Last modified: May 23, 2018
This is version 87 of the entry and version 2 of the sequence. See 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
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