UniProtKB - Q3V6T2 (GRDN_HUMAN)
Girdin
CCDC88A
Functioni
Bifunctional modulator of guanine nucleotide-binding proteins (G proteins) (PubMed:19211784, PubMed:27621449).
Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein G(i) alpha subunits (PubMed:19211784, PubMed:21954290, PubMed:23509302, PubMed:25187647).
Also acts as a guanine nucleotide dissociation inhibitor for guanine nucleotide-binding protein G(s) subunit alpha GNAS (PubMed:27621449).
Essential for cell migration (PubMed:20462955, PubMed:16139227, PubMed:19211784, PubMed:21954290).
Interacts in complex with G(i) alpha subunits with the EGFR receptor, retaining EGFR at the cell membrane following ligand stimulation and promoting EGFR signaling which triggers cell migration (PubMed:20462955).
Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G-protein complex which enhances phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB (PubMed:19211784).
Phosphorylation of AKT1/PKB induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation (By similarity).
Binds in its tyrosine-phosphorylated form to the phosphatidylinositol 3-kinase (PI3K) regulatory subunit PIK3R1 which enables recruitment of PIK3R1 to the EGFR receptor, enhancing PI3K activity and cell migration (PubMed:21954290).
Plays a role as a key modulator of the AKT-mTOR signaling pathway, controlling the tempo of the process of newborn neuron integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation (By similarity).
Inhibition of G(s) subunit alpha GNAS leads to reduced cellular levels of cAMP and suppression of cell proliferation (PubMed:27621449).
Essential for the integrity of the actin cytoskeleton (PubMed:16139227, PubMed:19211784).
Required for formation of actin stress fibers and lamellipodia (PubMed:15882442).
May be involved in membrane sorting in the early endosome (PubMed:15882442).
Plays a role in ciliogenesis and cilium morphology and positioning and this may partly be through regulation of the localization of scaffolding protein CROCC/Rootletin (PubMed:27623382).
By similarity9 PublicationsGO - Molecular functioni
- actin binding Source: UniProtKB
- dynein light intermediate chain binding Source: GO_Central
- epidermal growth factor receptor binding Source: UniProtKB
- GDP-dissociation inhibitor activity Source: UniProtKB
- G-protein alpha-subunit binding Source: UniProtKB
- guanyl-nucleotide exchange factor activity Source: UniProtKB
- insulin receptor binding Source: UniProtKB
- microtubule binding Source: UniProtKB
- phosphatidylinositol binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- protein kinase B binding Source: UniProtKB
- protein kinase C binding Source: UniProtKB
- SH2 domain binding Source: UniProtKB
- vascular endothelial growth factor receptor 2 binding Source: UniProtKB
GO - Biological processi
- activation of protein kinase activity Source: UniProtKB
- activation of protein kinase B activity Source: UniProtKB
- cell migration Source: UniProtKB
- cytoplasmic microtubule organization Source: GO_Central
- cytoskeleton-dependent intracellular transport Source: GO_Central
- DNA replication Source: UniProtKB-KW
- lamellipodium assembly Source: UniProtKB
- maintenance of protein location in plasma membrane Source: UniProtKB
- membrane organization Source: UniProtKB
- nervous system development Source: UniProtKB-KW
- positive regulation of cilium assembly Source: UniProtKB
- positive regulation of epidermal growth factor receptor signaling pathway Source: UniProtKB
- positive regulation of protein localization to cilium Source: UniProtKB
- positive regulation of stress fiber assembly Source: CACAO
- regulation of actin cytoskeleton organization Source: UniProtKB
- regulation of cell population proliferation Source: UniProtKB
- regulation of DNA replication Source: UniProtKB
- regulation of neuron projection development Source: UniProtKB
- regulation of protein phosphorylation Source: UniProtKB
- small GTPase mediated signal transduction Source: UniProtKB
- TOR signaling Source: UniProtKB
Keywordsi
Molecular function | Guanine-nucleotide releasing factor |
Biological process | Cilium biogenesis/degradation, DNA replication, Neurogenesis |
Enzyme and pathway databases
PathwayCommonsi | Q3V6T2 |
Reactomei | R-HSA-9696264, RND3 GTPase cycle R-HSA-9696273, RND1 GTPase cycle |
SignaLinki | Q3V6T2 |
SIGNORi | Q3V6T2 |
Names & Taxonomyi
Protein namesi | Recommended name: GirdinAlternative name(s): Akt phosphorylation enhancer Short name: APE Coiled-coil domain-containing protein 88A G alpha-interacting vesicle-associated protein Short name: GIV Girders of actin filament Hook-related protein 1 Short name: HkRP1 |
Gene namesi | Name:CCDC88A Synonyms:APEImported, GRDN, KIAA1212Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25523, CCDC88A |
MIMi | 609736, gene |
neXtProti | NX_Q3V6T2 |
VEuPathDBi | HostDB:ENSG00000115355 |
Subcellular locationi
Plasma membrane
- Cell membrane 3 Publications; Peripheral membrane protein Curated
Cytoplasm and Cytosol
- cytosol 2 Publications
Cytoskeleton
- cilium basal body 1 Publication
- centriole 1 Publication
Other locations
- Cytoplasmic vesicle 3 Publications
- lamellipodium 1 Publication
Note: Localizes to the cytosol in unstimulated cells while EGF stimulation promotes membrane localization and guanine nucleotide exchange factor activity (PubMed:27864364). Localizes to the cell membrane through interaction with phosphoinositides (PubMed:16139227, PubMed:15882442).3 Publications
Cytoskeleton
- centriole Source: UniProtKB
- centrosome Source: GO_Central
- ciliary basal body Source: UniProtKB
Cytosol
- cytosol Source: UniProtKB
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- cytoplasm Source: GO_Central
- cytoplasmic vesicle Source: UniProtKB
- lamellipodium Source: UniProtKB
- membrane Source: UniProtKB
Keywords - Cellular componenti
Cell membrane, Cell projection, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, MembranePathology & Biotechi
Involvement in diseasei
PEHO-like syndrome (PEHOL)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 1417 | S → A: Phosphorylation-deficient mutant which disrupts actin organization, cell migration and lamellipodia formation but has no effect on tyrosine phosphorylation. 2 Publications | 1 | |
Mutagenesisi | 1417 | S → D: Phosphomimetic mutant which has no effect on tyrosine phosphorylation. 1 Publication | 1 | |
Mutagenesisi | 1675 | S → A: Phosphorylation-deficient mutant which disrupts binding to GNAI3 and GNAS. 1 Publication | 1 | |
Mutagenesisi | 1675 | S → D: Phosphomimetic mutant which results in slight increase in binding to GNAI3 and GNAS. Increased inhibition of GNAS; when associated with D-1690. 1 Publication | 1 | |
Mutagenesisi | 1684 | Q → A: No effect on guanine nucleotide exchange factor activity. 1 Publication | 1 | |
Mutagenesisi | 1686 | F → A: Abolishes interaction with and activation of GNAI3 and also abolishes recruitment of GNAI3 to EGFR. Reduced EGFR autophosphorylation and SH2 adapter recruitment, reduced localization of EGFR at the cell membrane following ligand stimulation with increased endosomal localization, reduced cell migration and increased cell proliferation. Abolishes enhancement of AKT signaling. Abolishes interaction with GNAS. 4 Publications | 1 | |
Mutagenesisi | 1689 | E → A: Abolishes interaction with GNAI3. 1 Publication | 1 | |
Mutagenesisi | 1690 | S → A: Phosphorylation-deficient mutant which retains the ability to bind GNAI3. 1 Publication | 1 | |
Mutagenesisi | 1690 | S → D: Phosphomimetic mutant which abolishes interaction with GNAI3, inhibits guanine nucleotide exchange factor activity, inhibits cell migration and triggers cell proliferation. Retains ability to bind to GNAS. Increased inhibition of GNAS; when associated with D-1675. 2 Publications | 1 | |
Mutagenesisi | 1723 | K → E: Abolishes binding to phosphorylated EGFR. 1 Publication | 1 | |
Mutagenesisi | 1725 | K → E: Does not affect binding to phosphorylated EGFR. 1 Publication | 1 | |
Mutagenesisi | 1746 | R → K or L: Abolishes binding to phosphorylated EGFR. 1 Publication | 1 | |
Mutagenesisi | 1750 | K → E: Abolishes binding to phosphorylated EGFR. 1 Publication | 1 | |
Mutagenesisi | 1765 | Y → F: Abolishes phosphorylation and leads to reduced AKT phosphorylation, impaired formation of actin stress fibers and impaired cell migration abolishes interaction with PIK3R1 and activation of PI3K, reduces phosphorylation of Ser-1417 but does not affect interaction with or activation of GNAI3; when associated with F-1799. 1 Publication | 1 | |
Mutagenesisi | 1766 | F → T: Increases binding to phosphorylated EGFR. 1 Publication | 1 | |
Mutagenesisi | 1778 | Q → E: Abolishes binding to phosphorylated EGFR. 1 Publication | 1 | |
Mutagenesisi | 1799 | Y → F: Abolishes phosphorylation and leads to reduced AKT phosphorylation, impaired formation of actin stress fibers and impaired cell migration, abolishes interaction with PIK3R1 and activation of PI3K activity, reduces phosphorylation of Ser-1417 but does not affect interaction with or activation of GNAI3; when associated with F-1765. 1 Publication | 1 |
Keywords - Diseasei
Epilepsy, Mental retardation, NeurodegenerationOrganism-specific databases
DisGeNETi | 55704 |
MalaCardsi | CCDC88A |
MIMi | 617507, phenotype |
OpenTargetsi | ENSG00000115355 |
Orphaneti | 99807, PEHO-like syndrome |
PharmGKBi | PA162381751 |
Miscellaneous databases
Pharosi | Q3V6T2, Tbio |
Genetic variation databases
BioMutai | CCDC88A |
DMDMi | 147644956 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000287429 | 1 – 1871 | GirdinAdd BLAST | 1871 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 233 | PhosphoserineCombined sources | 1 | |
Modified residuei | 237 | PhosphoserineBy similarity | 1 | |
Modified residuei | 449 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1020 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1387 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1417 | Phosphoserine; by PKB/AKT1Combined sources1 Publication | 1 | |
Modified residuei | 1421 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 1673 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 1675 | Phosphoserine1 Publication | 1 | |
Modified residuei | 1690 | Phosphoserine; by PKC/PRKCQ2 Publications | 1 | |
Modified residuei | 1717 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1765 | Phosphotyrosine1 Publication | 1 | |
Modified residuei | 1799 | Phosphotyrosine1 Publication | 1 | |
Modified residuei | 1820 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1837 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q3V6T2 |
jPOSTi | Q3V6T2 |
MassIVEi | Q3V6T2 |
MaxQBi | Q3V6T2 |
PaxDbi | Q3V6T2 |
PeptideAtlasi | Q3V6T2 |
PRIDEi | Q3V6T2 |
ProteomicsDBi | 61886 [Q3V6T2-1] 61887 [Q3V6T2-2] 61888 [Q3V6T2-3] 61889 [Q3V6T2-4] 7248 |
PTM databases
iPTMneti | Q3V6T2 |
PhosphoSitePlusi | Q3V6T2 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000115355, Expressed in testis and 222 other tissues |
ExpressionAtlasi | Q3V6T2, baseline and differential |
Genevisiblei | Q3V6T2, HS |
Organism-specific databases
HPAi | ENSG00000115355, Tissue enhanced (brain) |
Interactioni
Subunit structurei
Homodimer (PubMed:16139227).
Interacts (via GBA motif) with guanine nucleotide-binding protein G(i) alpha subunits GNAI1, GNAI2 and GNAI3 (PubMed:19211784, PubMed:21954290, PubMed:23509302, PubMed:27621449, PubMed:31363053).
Also interacts (via GNA motif) with guanine nucleotide-binding protein G(s) alpha subunit GNAS (PubMed:27621449). Interaction with G(i) alpha subunits occurs before interaction with GNAS and is regulated by phosphorylation; phosphorylation at Ser-1675 enhances binding to G(i) alpha subunits while phosphorylation at Ser-1690 abolishes G(i) alpha subunit binding, promoting binding to GNAS (PubMed:27621449).
Interacts (via C-terminal SH2-like region) with growth factor receptors EGFR, INSR and KDR/VEGFR2 (via their autophosphorylated cytoplasmic tails) (PubMed:25187647).
Forms a complex with EGFR and GNAI3 which leads to enhanced EGFR signaling and triggering of cell migration; ligand stimulation is required for recruitment of GNAI3 to the complex (PubMed:20462955, PubMed:25187647).
Interacts (tyrosine-phosphorylated form) with phosphatidylinositol 3-kinase (PI3K) regulatory subunit PIK3R1/p85a (via SH2 domains); the interaction enables recruitment of PIK3R1 to the EGFR receptor, enhancing PI3K activity and cell migration (PubMed:21954290).
Interacts with serine/threonine-protein kinase PRKCQ; the interaction leads to phosphorylation of CCDC88A and inhibition of its guanine nucleotide exchange factor activity (PubMed:23509302).
Interacts (via C-terminus) with DISC1; the interaction is direct (By similarity).
Interacts with AKT proteins; the interaction is inhibited in the presence of DISC1 (By similarity).
Interacts with AKT1/PKB (via C-terminus) (PubMed:16139227). The non-phosphorylated form interacts with phosphatidylinositol 4-phosphate [PI4P] and weakly with phosphatidylinositol 3-phosphate [PI3P] (PubMed:16139227).
Interacts with microtubules (By similarity).
Interacts with actin (PubMed:16139227).
By similarity8 PublicationsBinary interactionsi
Q3V6T2
With | #Exp. | IntAct |
---|---|---|
DISC1 [Q9NRI5] | 3 | EBI-2266839,EBI-529989 |
GO - Molecular functioni
- actin binding Source: UniProtKB
- dynein light intermediate chain binding Source: GO_Central
- epidermal growth factor receptor binding Source: UniProtKB
- G-protein alpha-subunit binding Source: UniProtKB
- insulin receptor binding Source: UniProtKB
- microtubule binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- protein kinase B binding Source: UniProtKB
- protein kinase C binding Source: UniProtKB
- SH2 domain binding Source: UniProtKB
- vascular endothelial growth factor receptor 2 binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 120829, 162 interactors |
CORUMi | Q3V6T2 |
DIPi | DIP-50784N |
IntActi | Q3V6T2, 75 interactors |
MINTi | Q3V6T2 |
STRINGi | 9606.ENSP00000338728 |
Miscellaneous databases
RNActi | Q3V6T2, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q3V6T2 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 12 – 132 | Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST | 121 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 816 – 842 | DisorderedSequence analysisAdd BLAST | 27 | |
Regioni | 1010 – 1035 | DisorderedSequence analysisAdd BLAST | 26 | |
Regioni | 1390 – 1408 | Phosphoinositide-binding1 PublicationAdd BLAST | 19 | |
Regioni | 1407 – 1459 | DisorderedSequence analysisAdd BLAST | 53 | |
Regioni | 1559 – 1601 | DisorderedSequence analysisAdd BLAST | 43 | |
Regioni | 1713 – 1823 | SH2-like; required for interaction with growth factor receptors1 PublicationAdd BLAST | 111 | |
Regioni | 1736 – 1871 | DisorderedSequence analysisAdd BLAST | 136 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 196 – 425 | Sequence analysisAdd BLAST | 230 | |
Coiled coili | 458 – 1385 | Sequence analysisAdd BLAST | 928 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 1672 – 1702 | GBA1 PublicationAdd BLAST | 31 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1416 – 1459 | Polar residuesSequence analysisAdd BLAST | 44 | |
Compositional biasi | 1743 – 1759 | Basic and acidic residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 1767 – 1819 | Polar residuesSequence analysisAdd BLAST | 53 | |
Compositional biasi | 1839 – 1856 | Polar residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 1857 – 1871 | Basic and acidic residuesSequence analysisAdd BLAST | 15 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG4643, Eukaryota |
GeneTreei | ENSGT00940000155559 |
HOGENOMi | CLU_001421_1_0_1 |
InParanoidi | Q3V6T2 |
OMAi | LNNQCEX |
OrthoDBi | 59187at2759 |
PhylomeDBi | Q3V6T2 |
TreeFami | TF320231 |
Family and domain databases
Gene3Di | 1.10.418.10, 1 hit |
InterProi | View protein in InterPro IPR001715, CH-domain IPR036872, CH_dom_sf IPR027717, Girdin IPR043936, HOOK_N |
PANTHERi | PTHR18947:SF30, PTHR18947:SF30, 1 hit |
Pfami | View protein in Pfam PF19047, HOOK_N, 1 hit |
PROSITEi | View protein in PROSITE PS50021, CH, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 33 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MENEIFTPLL EQFMTSPLVT WVKTFGPLAA GNGTNLDEYV ALVDGVFLNQ
60 70 80 90 100
VMLQINPKLE SQRVNKKVNN DASLRMHNLS ILVRQIKFYY QETLQQLIMM
110 120 130 140 150
SLPNVLIIGK NPFSEQGTEE VKKLLLLLLG CAVQCQKKEE FIERIQGLDF
160 170 180 190 200
DTKAAVAAHI QEVTHNQENV FDLQWMEVTD MSQEDIEPLL KNMALHLKRL
210 220 230 240 250
IDERDEHSET IIELSEERDG LHFLPHASSS AQSPCGSPGM KRTESRQHLS
260 270 280 290 300
VELADAKAKI RRLRQELEEK TEQLLDCKQE LEQMEIELKR LQQENMNLLS
310 320 330 340 350
DARSARMYRD ELDALREKAV RVDKLESEVS RYKERLHDIE FYKARVEELK
360 370 380 390 400
EDNQVLLETK TMLEDQLEGT RARSDKLHEL EKENLQLKAK LHDMEMERDM
410 420 430 440 450
DRKKIEELME ENMTLEMAQK QSMDESLHLG WELEQISRTS ELSEAPQKSL
460 470 480 490 500
GHEVNELTSS RLLKLEMENQ SLTKTVEELR TTVDSVEGNA SKILKMEKEN
510 520 530 540 550
QRLSKKVEIL ENEIVQEKQS LQNCQNLSKD LMKEKAQLEK TIETLRENSE
560 570 580 590 600
RQIKILEQEN EHLNQTVSSL RQRSQISAEA RVKDIEKENK ILHESIKETS
610 620 630 640 650
SKLSKIEFEK RQIKKELEHY KEKGERAEEL ENELHHLEKE NELLQKKITN
660 670 680 690 700
LKITCEKIEA LEQENSELER ENRKLKKTLD SFKNLTFQLE SLEKENSQLD
710 720 730 740 750
EENLELRRNV ESLKCASMKM AQLQLENKEL ESEKEQLKKG LELLKASFKK
760 770 780 790 800
TERLEVSYQG LDIENQRLQK TLENSNKKIQ QLESELQDLE MENQTLQKNL
810 820 830 840 850
EELKISSKRL EQLEKENKSL EQETSQLEKD KKQLEKENKR LRQQAEIKDT
860 870 880 890 900
TLEENNVKIG NLEKENKTLS KEIGIYKESC VRLKELEKEN KELVKRATID
910 920 930 940 950
IKTLVTLRED LVSEKLKTQQ MNNDLEKLTH ELEKIGLNKE RLLHDEQSTD
960 970 980 990 1000
DSRYKLLESK LESTLKKSLE IKEEKIAALE ARLEESTNYN QQLRQELKTV
1010 1020 1030 1040 1050
KKNYEALKQR QDEERMVQSS PPISGEDNKW ERESQETTRE LLKVKDRLIE
1060 1070 1080 1090 1100
VERNNATLQA EKQALKTQLK QLETQNNNLQ AQILALQRQT VSLQEQNTTL
1110 1120 1130 1140 1150
QTQNAKLQVE NSTLNSQSTS LMNQNAQLLI QQSSLENENE SVIKEREDLK
1160 1170 1180 1190 1200
SLYDSLIKDH EKLELLHERQ ASEYESLISK HGTLKSAHKN LEVEHRDLED
1210 1220 1230 1240 1250
RYNQLLKQKG QLEDLEKMLK VEQEKMLLEN KNHETVAAEY KKLCGENDRL
1260 1270 1280 1290 1300
NHTYSQLLKE TEVLQTDHKN LKSLLNNSKL EQTRLEAEFS KLKEQYQQLD
1310 1320 1330 1340 1350
ITSTKLNNQC ELLSQLKGNL EEENRHLLDQ IQTLMLQNRT LLEQNMESKD
1360 1370 1380 1390 1400
LFHVEQRQYI DKLNELRRQK EKLEEKIMDQ YKFYDPSPPR RRGNWITLKM
1410 1420 1430 1440 1450
RKLIKSKKDI NRERQKSLTL TPTRSDSSEG FLQLPHQDSQ DSSSVGSNSL
1460 1470 1480 1490 1500
EDGQTLGTKK SSMVALKRLP FLRNRPKDKD KMKACYRRSM SMNDLVQSMV
1510 1520 1530 1540 1550
LAGQWTGSTE NLEVPDDIST GKRRKELGAM AFSTTAINFS TVNSSAGFRS
1560 1570 1580 1590 1600
KQLVNNKDTT SFEDISPQGV SDDSSTGSRV HASRPASLDS GRTSTSNSNN
1610 1620 1630 1640 1650
NASLHEVKAG AVNNQSRPQS HSSGEFSLLH DHEAWSSSGS SPIQYLKRQT
1660 1670 1680 1690 1700
RSSPVLQHKI SETLESRHHK IKTGSPGSEV VTLQQFLEES NKLTSVQIKS
1710 1720 1730 1740 1750
SSQENLLDEV MKSLSVSSDF LGKDKPVSCG LARSVSGKTP GDFYDRRTTK
1760 1770 1780 1790 1800
PEFLRPGPRK TEDTYFISSA GKPTPGTQGK IKLVKESSLS RQSKDSNPYA
1810 1820 1830 1840 1850
TLPRASSVIS TAEGTTRRTS IHDFLTKDSR LPISVDSPPA AADSNTTAAS
1860 1870
NVDKVQESRN SKSRSREQQS S
Computationally mapped potential isoform sequencesi
There are 33 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A2U3TZV9 | A0A2U3TZV9_HUMAN | Girdin | CCDC88A | 1,797 | Annotation score: | ||
A0A2R8Y4W8 | A0A2R8Y4W8_HUMAN | Girdin | CCDC88A | 1,493 | Annotation score: | ||
A0A2R8YG73 | A0A2R8YG73_HUMAN | Girdin | CCDC88A | 1,494 | Annotation score: | ||
A0A2R8Y846 | A0A2R8Y846_HUMAN | Girdin | CCDC88A | 268 | Annotation score: | ||
A0A2R8Y4X4 | A0A2R8Y4X4_HUMAN | Girdin | CCDC88A | 1,406 | Annotation score: | ||
H0Y470 | H0Y470_HUMAN | Girdin | CCDC88A | 888 | Annotation score: | ||
H7C2C6 | H7C2C6_HUMAN | Girdin | CCDC88A | 1,202 | Annotation score: | ||
H0Y7U8 | H0Y7U8_HUMAN | Girdin | CCDC88A | 736 | Annotation score: | ||
A0A2R8Y7B1 | A0A2R8Y7B1_HUMAN | Girdin | CCDC88A | 1,604 | Annotation score: | ||
A0A2R8Y7D4 | A0A2R8Y7D4_HUMAN | Girdin | CCDC88A | 939 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1066 | K → E in CAI46020 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1081 | A → T in CAD97945 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1661 | S → P in CAD97945 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1710 | V → I in CAI46020 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1799 | Y → H in CAD98038 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1836 | D → G in CAI46020 (PubMed:17974005).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_040129 | 952 | Missing in isoform 3, isoform 4 and isoform 5. 3 Publications | 1 | |
Alternative sequenceiVSP_052409 | 1463 – 1491 | MVALK…RRSMS → T in isoform 2 and isoform 4. 4 PublicationsAdd BLAST | 29 | |
Alternative sequenceiVSP_044943 | 1733 – 1806 | Missing in isoform 5. 1 PublicationAdd BLAST | 74 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB201172 mRNA Translation: BAE44387.1 AB125644 mRNA Translation: BAF44475.1 AC019198 Genomic DNA Translation: AAY14932.1 Different initiation. AC092176 Genomic DNA Translation: AAX82029.1 AC012358 Genomic DNA No translation available. BC132736 mRNA Translation: AAI32737.1 BC144320 mRNA Translation: AAI44321.1 BX537985 mRNA Translation: CAD97945.1 Sequence problems. BX538154 mRNA Translation: CAD98038.1 BX648138 mRNA Translation: CAI46020.1 Different initiation. |
CCDSi | CCDS33203.1 [Q3V6T2-2] CCDS46288.1 [Q3V6T2-3] CCDS58710.1 [Q3V6T2-5] |
RefSeqi | NP_001129069.1, NM_001135597.1 [Q3V6T2-3] NP_001241872.1, NM_001254943.1 [Q3V6T2-5] NP_060554.3, NM_018084.4 [Q3V6T2-2] XP_011531267.1, XM_011532965.2 XP_011531268.1, XM_011532966.2 [Q3V6T2-1] XP_011531269.1, XM_011532967.2 [Q3V6T2-2] |
Genome annotation databases
Ensembli | ENST00000263630; ENSP00000263630; ENSG00000115355 [Q3V6T2-2] ENST00000336838; ENSP00000338728; ENSG00000115355 [Q3V6T2-3] ENST00000436346; ENSP00000410608; ENSG00000115355 ENST00000642200; ENSP00000495919; ENSG00000115355 ENST00000643413; ENSP00000494811; ENSG00000115355 [Q3V6T2-4] ENST00000646796; ENSP00000493703; ENSG00000115355 [Q3V6T2-5] |
GeneIDi | 55704 |
KEGGi | hsa:55704 |
MANE-Selecti | ENST00000436346.7; ENSP00000410608.1; NM_001365480.1; NP_001352409.1 |
UCSCi | uc002ryv.3, human [Q3V6T2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB201172 mRNA Translation: BAE44387.1 AB125644 mRNA Translation: BAF44475.1 AC019198 Genomic DNA Translation: AAY14932.1 Different initiation. AC092176 Genomic DNA Translation: AAX82029.1 AC012358 Genomic DNA No translation available. BC132736 mRNA Translation: AAI32737.1 BC144320 mRNA Translation: AAI44321.1 BX537985 mRNA Translation: CAD97945.1 Sequence problems. BX538154 mRNA Translation: CAD98038.1 BX648138 mRNA Translation: CAI46020.1 Different initiation. |
CCDSi | CCDS33203.1 [Q3V6T2-2] CCDS46288.1 [Q3V6T2-3] CCDS58710.1 [Q3V6T2-5] |
RefSeqi | NP_001129069.1, NM_001135597.1 [Q3V6T2-3] NP_001241872.1, NM_001254943.1 [Q3V6T2-5] NP_060554.3, NM_018084.4 [Q3V6T2-2] XP_011531267.1, XM_011532965.2 XP_011531268.1, XM_011532966.2 [Q3V6T2-1] XP_011531269.1, XM_011532967.2 [Q3V6T2-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6MHF | X-ray | 2.00 | C | 1672-1702 | [»] | |
SMRi | Q3V6T2 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120829, 162 interactors |
CORUMi | Q3V6T2 |
DIPi | DIP-50784N |
IntActi | Q3V6T2, 75 interactors |
MINTi | Q3V6T2 |
STRINGi | 9606.ENSP00000338728 |
PTM databases
iPTMneti | Q3V6T2 |
PhosphoSitePlusi | Q3V6T2 |
Genetic variation databases
BioMutai | CCDC88A |
DMDMi | 147644956 |
Proteomic databases
EPDi | Q3V6T2 |
jPOSTi | Q3V6T2 |
MassIVEi | Q3V6T2 |
MaxQBi | Q3V6T2 |
PaxDbi | Q3V6T2 |
PeptideAtlasi | Q3V6T2 |
PRIDEi | Q3V6T2 |
ProteomicsDBi | 61886 [Q3V6T2-1] 61887 [Q3V6T2-2] 61888 [Q3V6T2-3] 61889 [Q3V6T2-4] 7248 |
Protocols and materials databases
Antibodypediai | 47423, 247 antibodies from 33 providers |
DNASUi | 55704 |
Genome annotation databases
Ensembli | ENST00000263630; ENSP00000263630; ENSG00000115355 [Q3V6T2-2] ENST00000336838; ENSP00000338728; ENSG00000115355 [Q3V6T2-3] ENST00000436346; ENSP00000410608; ENSG00000115355 ENST00000642200; ENSP00000495919; ENSG00000115355 ENST00000643413; ENSP00000494811; ENSG00000115355 [Q3V6T2-4] ENST00000646796; ENSP00000493703; ENSG00000115355 [Q3V6T2-5] |
GeneIDi | 55704 |
KEGGi | hsa:55704 |
MANE-Selecti | ENST00000436346.7; ENSP00000410608.1; NM_001365480.1; NP_001352409.1 |
UCSCi | uc002ryv.3, human [Q3V6T2-1] |
Organism-specific databases
CTDi | 55704 |
DisGeNETi | 55704 |
GeneCardsi | CCDC88A |
HGNCi | HGNC:25523, CCDC88A |
HPAi | ENSG00000115355, Tissue enhanced (brain) |
MalaCardsi | CCDC88A |
MIMi | 609736, gene 617507, phenotype |
neXtProti | NX_Q3V6T2 |
OpenTargetsi | ENSG00000115355 |
Orphaneti | 99807, PEHO-like syndrome |
PharmGKBi | PA162381751 |
VEuPathDBi | HostDB:ENSG00000115355 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4643, Eukaryota |
GeneTreei | ENSGT00940000155559 |
HOGENOMi | CLU_001421_1_0_1 |
InParanoidi | Q3V6T2 |
OMAi | LNNQCEX |
OrthoDBi | 59187at2759 |
PhylomeDBi | Q3V6T2 |
TreeFami | TF320231 |
Enzyme and pathway databases
PathwayCommonsi | Q3V6T2 |
Reactomei | R-HSA-9696264, RND3 GTPase cycle R-HSA-9696273, RND1 GTPase cycle |
SignaLinki | Q3V6T2 |
SIGNORi | Q3V6T2 |
Miscellaneous databases
BioGRID-ORCSi | 55704, 10 hits in 1051 CRISPR screens |
ChiTaRSi | CCDC88A, human |
GeneWikii | CCDC88A |
GenomeRNAii | 55704 |
Pharosi | Q3V6T2, Tbio |
PROi | PR:Q3V6T2 |
RNActi | Q3V6T2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000115355, Expressed in testis and 222 other tissues |
ExpressionAtlasi | Q3V6T2, baseline and differential |
Genevisiblei | Q3V6T2, HS |
Family and domain databases
Gene3Di | 1.10.418.10, 1 hit |
InterProi | View protein in InterPro IPR001715, CH-domain IPR036872, CH_dom_sf IPR027717, Girdin IPR043936, HOOK_N |
PANTHERi | PTHR18947:SF30, PTHR18947:SF30, 1 hit |
Pfami | View protein in Pfam PF19047, HOOK_N, 1 hit |
PROSITEi | View protein in PROSITE PS50021, CH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | GRDN_HUMAN | |
Accessioni | Q3V6T2Primary (citable) accession number: Q3V6T2 Secondary accession number(s): A1IGE7 Q7Z3C5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 15, 2007 |
Last sequence update: | May 15, 2007 | |
Last modified: | February 23, 2022 | |
This is version 139 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families