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Protein

Protein FAM83B

Gene

FAM83B

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

Functioni

Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. May activate both the EGFR itself and downstream RAS/MAPK and PI3K/AKT/TOR signaling cascades.3 Publications

GO - Molecular functioni

  • epidermal growth factor receptor binding Source: UniProtKB
  • phosphatidylinositol 3-kinase catalytic subunit binding Source: UniProtKB
  • phosphatidylinositol 3-kinase regulatory subunit binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB

GO - Biological processi

  • cell proliferation Source: UniProtKB
  • epidermal growth factor receptor signaling pathway Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM83BCurated
Gene namesi
Name:FAM83BImported
Synonyms:C6orf143Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21357. FAM83B.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • membrane Source: UniProtKB

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi230K → A: Loss of the ability to interact with and activate EGFR. 1 Publication1

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi222584.
OpenTargetsiENSG00000168143.
PharmGKBiPA134987811.

Polymorphism and mutation databases

DMDMi74744366.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002975621 – 1011Protein FAM83BAdd BLAST1011

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei334PhosphoserineCombined sources1
Modified residuei422PhosphoserineCombined sources1
Modified residuei424PhosphoserineCombined sources1
Modified residuei466PhosphoserineCombined sources1
Modified residuei543PhosphoserineCombined sources1
Modified residuei664PhosphoserineCombined sources1
Modified residuei782PhosphothreonineCombined sources1
Modified residuei802PhosphoserineCombined sources1
Modified residuei852PhosphoserineCombined sources1
Modified residuei869PhosphoserineCombined sources1
Modified residuei915PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5T0W9.
MaxQBiQ5T0W9.
PaxDbiQ5T0W9.
PeptideAtlasiQ5T0W9.
PRIDEiQ5T0W9.

PTM databases

iPTMnetiQ5T0W9.
PhosphoSitePlusiQ5T0W9.

Expressioni

Gene expression databases

BgeeiENSG00000168143.
CleanExiHS_FAM83B.
GenevisibleiQ5T0W9. HS.

Organism-specific databases

HPAiHPA031464.
HPA031465.

Interactioni

Subunit structurei

Interacts with EGFR; the interaction is disrupted by EGF stimulation (PubMed:23912460). Interacts with RAF1; displaces 14-3-3 proteins from RAF1 and activates RAF1 within the RAS/MAPK signaling cascade (PubMed:22886302). Interacts with AKT1, PIK3CA and PIK3R1; activates the PI3K/AKT signaling cascade (PubMed:23676467).3 Publications

GO - Molecular functioni

  • epidermal growth factor receptor binding Source: UniProtKB
  • phosphatidylinositol 3-kinase catalytic subunit binding Source: UniProtKB
  • phosphatidylinositol 3-kinase regulatory subunit binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi128805. 26 interactors.
IntActiQ5T0W9. 21 interactors.
STRINGi9606.ENSP00000304078.

Structurei

Secondary structure

11011
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi120 – 127Combined sources8
Beta strandi130 – 133Combined sources4
Helixi135 – 144Combined sources10
Beta strandi147 – 155Combined sources9
Helixi160 – 171Combined sources12
Beta strandi175 – 181Combined sources7
Helixi182 – 184Combined sources3
Helixi185 – 194Combined sources10
Helixi199 – 201Combined sources3
Beta strandi205 – 210Combined sources6
Beta strandi214 – 216Combined sources3
Beta strandi222 – 224Combined sources3
Beta strandi231 – 234Combined sources4
Turni235 – 237Combined sources3
Beta strandi238 – 243Combined sources6
Helixi249 – 252Combined sources4
Beta strandi255 – 263Combined sources9
Helixi265 – 279Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5LZKX-ray1.57A/B117-294[»]
ProteinModelPortaliQ5T0W9.
SMRiQ5T0W9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 284Required for interaction with RAF1 and for the function1 PublicationAdd BLAST284

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi833 – 838Poly-Ser6

Sequence similaritiesi

Belongs to the FAM83 family.Curated

Phylogenomic databases

eggNOGiENOG410IK0Q. Eukaryota.
ENOG410ZVMG. LUCA.
GeneTreeiENSGT00760000119168.
HOGENOMiHOG000112484.
HOVERGENiHBG095611.
InParanoidiQ5T0W9.
OMAiFMQKFGN.
OrthoDBiEOG091G019W.
PhylomeDBiQ5T0W9.
TreeFamiTF330777.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

Q5T0W9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
METSSMLSSL NDECKSDNYI EPHYKEWYRV AIDILIEHGL EAYQEFLVQE
60 70 80 90 100
RVSDFLAEEE INYILKNVQK VAQSTAHGTD DSCDDTLSSG TYWPVESDVE
110 120 130 140 150
APNLDLGWPY VMPGLLGGTH IDLLFHPPRA HLLTIKETIR KMIKEARKVI
160 170 180 190 200
ALVMDIFTDV DIFKEIVEAS TRGVSVYILL DESNFNHFLN MTEKQGCSVQ
210 220 230 240 250
RLRNIRVRTV KGQDYLSKTG AKFHGKMEQK FLLVDCQKVM YGSYSYMWSF
260 270 280 290 300
EKAHLSMVQI ITGQLVESFD EEFRTLYARS CVPSSFAQEE SARVKHGKAL
310 320 330 340 350
WENGTYQHSV SSLASVSSQR NLFGRQDKIH KLDSSYFKNR GIYTLNEHDK
360 370 380 390 400
YNIRSHGYKP HFVPNFNGPN AIRQFQPNQI NENWKRHSYA GEQPETVPYL
410 420 430 440 450
LLNRALNRTN NPPGNWKKPS DSLSVASSSR EGYVSHHNTP AQSFANRLAQ
460 470 480 490 500
RKTTNLADRN SNVRRSFNGT DNHIRFLQQR MPTLEHTTKS FLRNWRIESY
510 520 530 540 550
LNDHSEATPD SNGSALGDRF EGYDNPENLK ANALYTHSRL RSSLVFKPTL
560 570 580 590 600
PEQKEVNSCT TGSSNSTIIG SQGSETPKEV PDTPTNVQHL TDKPLPESIP
610 620 630 640 650
KLPLQSEAPK MHTLQVPENH SVALNQTTNG HTESNNYIYK TLGVNKQTEN
660 670 680 690 700
LKNQQTENLL KRRSFPLFDN SKANLDPGNS KHYVYSTLTR NRVRQPEKPK
710 720 730 740 750
EDLLKSSKSM HNVTHNLEED EEEVTKRNSP SGTTTKSVSI AALLDVNKEE
760 770 780 790 800
SNKELASKKE VKGSPSFLKK GSQKLRSLLS LTPDKKENLS KNKAPAFYRL
810 820 830 840 850
CSSSDTLVSE GEENQKPKKS DTKVDSSPRR KHSSSSNSQG SIHKSKEDVT
860 870 880 890 900
VSPSQEINAP PDENKRTPSP GPVESKFLER AGDASAPRFN TEQIQYRDSR
910 920 930 940 950
EINAVVTPER RPTSSPRPTS SELLRSHSTD RRVYSRFEPF CKIESSIQPT
960 970 980 990 1000
SNMPNTSINR PEIKSATMGN SYGRSSPLLN YNTGVYRSYQ PNENKFRGFM
1010
QKFGNFIHKN K
Length:1,011
Mass (Da):114,799
Last modified:December 21, 2004 - v1
Checksum:i7EF02DC36F95CFC3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti349D → G in BAB70873 (PubMed:14702039).Curated1
Sequence conflicti417K → E in BAB70873 (PubMed:14702039).Curated1
Sequence conflicti541R → S in BAB70873 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034638410N → S. Corresponds to variant dbSNP:rs13211183Ensembl.1
Natural variantiVAR_034639435S → R. Corresponds to variant dbSNP:rs9475076Ensembl.1
Natural variantiVAR_034640640K → T1 PublicationCorresponds to variant dbSNP:rs239798Ensembl.1
Natural variantiVAR_034641907T → N1 PublicationCorresponds to variant dbSNP:rs9475077Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL512363, AL049555 Genomic DNA. Translation: CAI15113.1.
AL049555, AL512363 Genomic DNA. Translation: CAI21667.1.
CH471081 Genomic DNA. Translation: EAX04439.1.
BC101628 mRNA. Translation: AAI01629.1.
BC112275 mRNA. Translation: AAI12276.1.
AK055204 mRNA. Translation: BAB70873.1.
CCDSiCCDS34479.1.
RefSeqiNP_001010872.1. NM_001010872.2.
XP_006715085.1. XM_006715022.3.
XP_011512696.1. XM_011514394.2.
XP_011512697.1. XM_011514395.2.
XP_016865967.1. XM_017010478.1.
UniGeneiHs.152423.

Genome annotation databases

EnsembliENST00000306858; ENSP00000304078; ENSG00000168143.
GeneIDi222584.
KEGGihsa:222584.
UCSCiuc003pck.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL512363, AL049555 Genomic DNA. Translation: CAI15113.1.
AL049555, AL512363 Genomic DNA. Translation: CAI21667.1.
CH471081 Genomic DNA. Translation: EAX04439.1.
BC101628 mRNA. Translation: AAI01629.1.
BC112275 mRNA. Translation: AAI12276.1.
AK055204 mRNA. Translation: BAB70873.1.
CCDSiCCDS34479.1.
RefSeqiNP_001010872.1. NM_001010872.2.
XP_006715085.1. XM_006715022.3.
XP_011512696.1. XM_011514394.2.
XP_011512697.1. XM_011514395.2.
XP_016865967.1. XM_017010478.1.
UniGeneiHs.152423.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5LZKX-ray1.57A/B117-294[»]
ProteinModelPortaliQ5T0W9.
SMRiQ5T0W9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128805. 26 interactors.
IntActiQ5T0W9. 21 interactors.
STRINGi9606.ENSP00000304078.

PTM databases

iPTMnetiQ5T0W9.
PhosphoSitePlusiQ5T0W9.

Polymorphism and mutation databases

DMDMi74744366.

Proteomic databases

EPDiQ5T0W9.
MaxQBiQ5T0W9.
PaxDbiQ5T0W9.
PeptideAtlasiQ5T0W9.
PRIDEiQ5T0W9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306858; ENSP00000304078; ENSG00000168143.
GeneIDi222584.
KEGGihsa:222584.
UCSCiuc003pck.5. human.

Organism-specific databases

CTDi222584.
DisGeNETi222584.
GeneCardsiFAM83B.
H-InvDBHIX0005969.
HGNCiHGNC:21357. FAM83B.
HPAiHPA031464.
HPA031465.
neXtProtiNX_Q5T0W9.
OpenTargetsiENSG00000168143.
PharmGKBiPA134987811.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK0Q. Eukaryota.
ENOG410ZVMG. LUCA.
GeneTreeiENSGT00760000119168.
HOGENOMiHOG000112484.
HOVERGENiHBG095611.
InParanoidiQ5T0W9.
OMAiFMQKFGN.
OrthoDBiEOG091G019W.
PhylomeDBiQ5T0W9.
TreeFamiTF330777.

Miscellaneous databases

GenomeRNAii222584.
PROiQ5T0W9.

Gene expression databases

BgeeiENSG00000168143.
CleanExiHS_FAM83B.
GenevisibleiQ5T0W9. HS.

Family and domain databases

InterProiView protein in InterPro
IPR012461. DUF1669.
PANTHERiPTHR16181. PTHR16181. 1 hit.
PfamiView protein in Pfam
PF07894. DUF1669. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiFA83B_HUMAN
AccessioniPrimary (citable) accession number: Q5T0W9
Secondary accession number(s): Q2M1P3, Q96DQ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: December 21, 2004
Last modified: February 15, 2017
This is version 100 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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.