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Protein

FYVE, RhoGEF and PH domain-containing protein 6

Gene

FGD6

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

Functioni

May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1222 – 1281FYVE-typePROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGuanine-nucleotide releasing factor
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
FYVE, RhoGEF and PH domain-containing protein 6
Alternative name(s):
Zinc finger FYVE domain-containing protein 24
Gene namesi
Name:FGD6
Synonyms:KIAA1362, ZFYVE24
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000180263.13
HGNCiHGNC:21740 FGD6
MIMi613520 gene
neXtProtiNX_Q6ZV73

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, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

DisGeNETi55785
OpenTargetsiENSG00000180263
PharmGKBiPA134967436

Polymorphism and mutation databases

BioMutaiFGD6
DMDMi61213484

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000809521 – 1430FYVE, RhoGEF and PH domain-containing protein 6Add BLAST1430

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei231PhosphoserineCombined sources1
Modified residuei515PhosphoserineCombined sources1
Modified residuei554PhosphoserineCombined sources1
Modified residuei605PhosphoserineBy similarity1
Modified residuei692PhosphoserineCombined sources1
Modified residuei721PhosphoserineCombined sources1
Modified residuei1197PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6ZV73
MaxQBiQ6ZV73
PaxDbiQ6ZV73
PeptideAtlasiQ6ZV73
PRIDEiQ6ZV73

PTM databases

iPTMnetiQ6ZV73
PhosphoSitePlusiQ6ZV73

Expressioni

Gene expression databases

BgeeiENSG00000180263
CleanExiHS_FGD6
ExpressionAtlasiQ6ZV73 baseline and differential
GenevisibleiQ6ZV73 HS

Organism-specific databases

HPAiHPA007974

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120899, 22 interactors
IntActiQ6ZV73, 12 interactors
STRINGi9606.ENSP00000344446

Structurei

3D structure databases

ProteinModelPortaliQ6ZV73
SMRiQ6ZV73
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini871 – 1060DHPROSITE-ProRule annotationAdd BLAST190
Domaini1089 – 1183PH 1PROSITE-ProRule annotationAdd BLAST95
Domaini1333 – 1429PH 2PROSITE-ProRule annotationAdd BLAST97

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi344 – 349Poly-Ser6

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1222 – 1281FYVE-typePROSITE-ProRule annotationAdd BLAST60

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IUBB Eukaryota
ENOG410XRXV LUCA
GeneTreeiENSGT00890000139342
HOGENOMiHOG000112571
HOVERGENiHBG051610
InParanoidiQ6ZV73
KOiK05724
OMAiKRITFCP
OrthoDBiEOG091G00IK
PhylomeDBiQ6ZV73
TreeFamiTF316247

Family and domain databases

CDDicd15793 PH1_FGD6, 1 hit
cd00160 RhoGEF, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 2 hits
3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR037743 FGD6_N_PH
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR000306 Znf_FYVE
IPR017455 Znf_FYVE-rel
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF01363 FYVE, 1 hit
PF00169 PH, 2 hits
PF00621 RhoGEF, 1 hit
SMARTiView protein in SMART
SM00064 FYVE, 1 hit
SM00233 PH, 2 hits
SM00325 RhoGEF, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
PROSITEiView protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 2 hits
PS50178 ZF_FYVE, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q6ZV73-1) [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
MTSAAEIKKP PVAPKPKFVV ANNKPAPPPI APKPDIVISS VPQSTKKMKP
60 70 80 90 100
AIAPKPKVLK TSPVREIGQS PSRKIMLNLE GHKQELAEST DNFNCKYEGN
110 120 130 140 150
QSNDYISPMC SCSSECIHKL GHRENLCVKQ LVLEPLEMNE NLENSKIDET
160 170 180 190 200
LTIKTRSKCD LYGEKAKNQG GVVLKASVLE EELKDALIHQ MPPFISAQKH
210 220 230 240 250
RPTDSPEMNG GCNSNGQFRI EFADLSPSPS SFEKVPDHHS CHLQLPSDEC
260 270 280 290 300
EHFETCQDDS EKSNNCFQSS ELEALENGKR STLISSDGVS KKSEVKDLGP
310 320 330 340 350
LEIHLVPYTP KFPTPKPRKT RTARLLRQKC VDTPSESTEE PGNSDSSSSC
360 370 380 390 400
LTENSLKINK ISVLHQNVLC KQEQVDKMKL GNKSELNMES NSDAQDLVNS
410 420 430 440 450
QKAMCNETTS FEKMAPSFDK DSNLSSDSTT VDGSSMSLAV DEGTGFIRCT
460 470 480 490 500
VSMSLPKQLK LTCNEHLQSG RNLGVSAPQM QKESVIKEEN SLRIVPKKPQ
510 520 530 540 550
RHSLPATGVL KKAASEELLE KSSYPSSEEK SSEKSLERNH LQHLCAQNRG
560 570 580 590 600
VSSSFDMPKR ASEKPVWKLP HPILPFSGNP EFLKSVTVSS NSEPSTALTK
610 620 630 640 650
PRAKSLSAMD VEKCTKPCKD STKKNSFKKL LSMKLSICFM KSDFQKFWSK
660 670 680 690 700
SSQLGDTTTG HLSSGEQKGI ESDWQGLLVG EEKRSKPIKA YSTENYSLES
710 720 730 740 750
QKKRKKSRGQ TSAANGLRAE SLDDQMLSRE SSSQAPYKSV TSLCAPEYEN
760 770 780 790 800
IRHYEEIPEY ENLPFIMAIR KTQELEWQNS SSMEDADANV YEVEEPYEAP
810 820 830 840 850
DGQLQLGPRH QHSSSGASQE EQNDLGLGDL PSDEEEIINS SDEDDVSSES
860 870 880 890 900
SKGEPDPLED KQDEDNGMKS KVHHIAKEIM SSEKVFVDVL KLLHIDFRDA
910 920 930 940 950
VAHASRQLGK PVIEDRILNQ ILYYLPQLYE LNRDLLKELE ERMLHWTEQQ
960 970 980 990 1000
RIADIFVKKG PYLKMYSTYI KEFDKNIALL DEQCKKNPGF AAVVREFEMS
1010 1020 1030 1040 1050
PRCANLALKH YLLKPVQRIP QYRLLLTDYL KNLIEDAGDY RDTQDALAVV
1060 1070 1080 1090 1100
IEVANHANDT MKQGDNFQKL MQIQYSLNGH HEIVQPGRVF LKEGILMKLS
1110 1120 1130 1140 1150
RKVMQPRMFF LFNDALLYTT PVQSGMYKLN NMLSLAGMKV RKPTQEAYQN
1160 1170 1180 1190 1200
ELKIESVERS FILSASSATE RDEWLEAISR AIEEYAKKRI TFCPSRSLDE
1210 1220 1230 1240 1250
ADSENKEEVS PLGSKAPIWI PDTRATMCMI CTSEFTLTWR RHHCRACGKI
1260 1270 1280 1290 1300
VCQACSSNKY GLDYLKNQPA RVCEHCFQEL QKLDHQHSPR IGSPGNHKSP
1310 1320 1330 1340 1350
SSALSSVLHS IPSGRKQKKI PAALKEVSAN TEDSSMSGYL YRSKGNKKPW
1360 1370 1380 1390 1400
KHFWFVIKNK VLYTYAASED VAALESQPLL GFTVIQVKDE NSESKVFQLL
1410 1420 1430
HKNMLFYVFK AEDAHSAQKW IEAFQEGTIL
Length:1,430
Mass (Da):160,816
Last modified:March 15, 2005 - v2
Checksum:i705D1D4DFB50D8FF
GO
Isoform 2 (identifier: Q6ZV73-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1370-1374: DVAAL → VRSEI
     1375-1430: Missing.

Note: No experimental confirmation available.
Show »
Length:1,374
Mass (Da):154,465
Checksum:iFA017AC35B18B7D1
GO

Sequence cautioni

The sequence BAA92052 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA92600 differs from that shown. Reason: Frameshift at position 1365.Curated
The sequence BAC87464 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAD98096 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti832S → P in CAD98096 (PubMed:17974005).Curated1
Sequence conflicti848S → F in CAD98096 (PubMed:17974005).Curated1
Sequence conflicti949Q → H in BAC85990 (PubMed:14702039).Curated1
Sequence conflicti966Y → D in AAH13319 (PubMed:15489334).Curated1
Sequence conflicti992A → T in AAH13319 (PubMed:15489334).Curated1
Sequence conflicti1002R → C in BAA92600 (PubMed:10718198).Curated1
Sequence conflicti1051I → V in AAH13319 (PubMed:15489334).Curated1
Sequence conflicti1115A → V in CAD98096 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024286257Q → R. Corresponds to variant dbSNP:rs10507047Ensembl.1
Natural variantiVAR_0519851393E → K. Corresponds to variant dbSNP:rs3794255Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0130911370 – 1374DVAAL → VRSEI in isoform 2. 1 Publication5
Alternative sequenceiVSP_0130921375 – 1430Missing in isoform 2. 1 PublicationAdd BLAST56

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK002045 mRNA Translation: BAA92052.1 Different initiation.
AK124904 mRNA Translation: BAC85990.1
AK128492 mRNA Translation: BAC87464.1 Different initiation.
BC013319 mRNA Translation: AAH13319.2
BX538322 mRNA Translation: CAD98096.1 Sequence problems.
AB037783 mRNA Translation: BAA92600.1 Frameshift.
CCDSiCCDS31878.1 [Q6ZV73-1]
RefSeqiNP_060821.3, NM_018351.3 [Q6ZV73-1]
UniGeneiHs.506381

Genome annotation databases

EnsembliENST00000343958; ENSP00000344446; ENSG00000180263 [Q6ZV73-1]
ENST00000546711; ENSP00000450342; ENSG00000180263 [Q6ZV73-2]
GeneIDi55785
KEGGihsa:55785
UCSCiuc001tdp.4 human [Q6ZV73-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Entry informationi

Entry nameiFGD6_HUMAN
AccessioniPrimary (citable) accession number: Q6ZV73
Secondary accession number(s): Q6ZR53
, Q7Z2Z7, Q96D44, Q9NUR8, Q9P2I5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: March 15, 2005
Last modified: May 23, 2018
This is version 135 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 12
    Human chromosome 12: 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

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