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UniProtKB - Q3V6T2 (GRDN_HUMAN)

Protein

Girdin

Gene

CCDC88A

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

Functioni

Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation (By similarity). Enhances phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB, but does not possess kinase activity itself (By similarity). Phosphorylation of AKT1/PKB thereby induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation (By similarity). Essential for the integrity of the actin cytoskeleton and for cell migration (PubMed:16139227). 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 similarity3 Publications

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • dynein light intermediate chain binding Source: GO_Central
  • microtubule binding Source: UniProtKB
  • phosphatidylinositol binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • protein kinase B binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCilium biogenesis/degradation, DNA replication, Neurogenesis

Enzyme and pathway databases

SIGNORiQ3V6T2

Names & Taxonomyi

Protein namesi
Recommended name:
Girdin
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000115355.15
HGNCiHGNC:25523 CCDC88A
MIMi609736 gene
neXtProtiNX_Q3V6T2

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

Cell membrane, Cell projection, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

PEHO-like syndrome (PEHOL)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by microcephaly and moderately severe hypotonia manifesting at birth, seizures that progress into infantile spasms with hypsarrhythmia, brain atrophy with bilateral polymicrogyria and pachygyria, thin corpus callosum, and mild reduction in cerebellar vermis volume. Patients also display optic atrophy, severe cognitive delay, puffiness of the maxillary region of the face, and edema of the dorsum of the hands and feet.
See also OMIM:617507

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1417S → A: Disrupts actin organization, cell migration and lamellipodia formation. 1 Publication1

Keywords - Diseasei

Epilepsy, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNETi55704
MalaCardsiCCDC88A
MIMi617507 phenotype
OpenTargetsiENSG00000115355
Orphaneti99807 PEHO-like syndrome
PharmGKBiPA162381751

Polymorphism and mutation databases

BioMutaiCCDC88A
DMDMi147644956

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002874291 – 1871GirdinAdd BLAST1871

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei233PhosphoserineCombined sources1
Modified residuei237PhosphoserineBy similarity1
Modified residuei449PhosphoserineCombined sources1
Modified residuei1020PhosphoserineCombined sources1
Modified residuei1387PhosphoserineCombined sources1
Modified residuei1417Phosphoserine; by PKB/AKT1Combined sources1 Publication1
Modified residuei1421PhosphothreonineCombined sources1
Modified residuei1673PhosphothreonineCombined sources1
Modified residuei1675PhosphoserineBy similarity1
Modified residuei1717PhosphoserineCombined sources1
Modified residuei1820PhosphoserineCombined sources1
Modified residuei1837PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylation is induced by epidermal growth factor (EGF) in a phosphoinositide 3-kinase (PI3K)-dependent manner. Phosphorylation by AKT1/PKB is necessary for the delocalization from the cell membrane and for cell migration.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ3V6T2
MaxQBiQ3V6T2
PaxDbiQ3V6T2
PeptideAtlasiQ3V6T2
PRIDEiQ3V6T2
ProteomicsDBi61886
61887 [Q3V6T2-2]
61888 [Q3V6T2-3]
61889 [Q3V6T2-4]

PTM databases

iPTMnetiQ3V6T2
PhosphoSitePlusiQ3V6T2

Expressioni

Tissue specificityi

Expressed ubiquitously.1 Publication

Gene expression databases

BgeeiENSG00000115355 Expressed in 208 organ(s), highest expression level in testis
CleanExiHS_CCDC88A
ExpressionAtlasiQ3V6T2 baseline and differential
GenevisibleiQ3V6T2 HS

Organism-specific databases

HPAiHPA038101
HPA038102

Interactioni

Subunit structurei

Interacts (via C-terminus) with DISC1; the interaction is direct. Interacts with AKT proteins; the interaction is inhibited in presence of DISC1 (By similarity). Homodimer. The non-phosphorylated form interacts with phosphatidylinositol 4-phosphate [PI4P] and weakly with phosphatidylinositol 3-phosphate [PI3P]. Interacts with microtubules. Interacts with actin through its C-terminal domain. Interacts with the C-terminus of AKT1/PKB.By similarity1 Publication

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi120829, 95 interactors
CORUMiQ3V6T2
DIPiDIP-50784N
IntActiQ3V6T2, 47 interactors
MINTiQ3V6T2
STRINGi9606.ENSP00000338728

Structurei

3D structure databases

ProteinModelPortaliQ3V6T2
SMRiQ3V6T2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini12 – 132Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST121

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1390 – 1408Phosphoinositide-binding1 PublicationAdd BLAST19

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili196 – 425Sequence analysisAdd BLAST230
Coiled coili458 – 1385Sequence analysisAdd BLAST928

Sequence similaritiesi

Belongs to the CCDC88 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4643 Eukaryota
ENOG410YFRJ LUCA
GeneTreeiENSGT00690000101702
HOGENOMiHOG000112146
HOVERGENiHBG057867
InParanoidiQ3V6T2
OMAiEQFVRPG
OrthoDBiEOG091G01AJ
PhylomeDBiQ3V6T2
TreeFamiTF320231

Family and domain databases

Gene3Di1.10.418.10, 1 hit
InterProiView protein in InterPro
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR027717 Girdin
IPR008636 Hook-like_fam
PANTHERiPTHR18947:SF30 PTHR18947:SF30, 1 hit
PfamiView protein in Pfam
PF05622 HOOK, 1 hit
PROSITEiView protein in PROSITE
PS50021 CH, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 33 potential isoforms that are computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q3V6T2-1) [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
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
Length:1,871
Mass (Da):216,042
Last modified:May 15, 2007 - v2
Checksum:i9DD2E06F2A235AA5
GO
Isoform 22 Publications (identifier: Q3V6T2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1463-1491: MVALKRLPFLRNRPKDKDKMKACYRRSMS → T

Show »
Length:1,843
Mass (Da):212,620
Checksum:i32BCF709F5ADEDC0
GO
Isoform 3 (identifier: Q3V6T2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     952-952: Missing.

Show »
Length:1,870
Mass (Da):215,954
Checksum:i259F771ECE3DDCFD
GO
Isoform 4 (identifier: Q3V6T2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     952-952: Missing.
     1463-1491: MVALKRLPFLRNRPKDKDKMKACYRRSMS → T

Show »
Length:1,842
Mass (Da):212,533
Checksum:i48C4D509CC7EEE68
GO
Isoform 5 (identifier: Q3V6T2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     952-952: Missing.
     1733-1806: Missing.

Note: No experimental confirmation available.
Show »
Length:1,796
Mass (Da):207,797
Checksum:iDE7B152EACCC2422
GO

Computationally mapped potential isoform sequencesi

There are 33 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C2C6H7C2C6_HUMAN
Girdin
CCDC88A
1,202Annotation score:
A0A087WXD9A0A087WXD9_HUMAN
Girdin
CCDC88A
741Annotation score:
H0Y470H0Y470_HUMAN
Girdin
CCDC88A
888Annotation score:
H0Y7U8H0Y7U8_HUMAN
Girdin
CCDC88A
736Annotation score:
A0A2U3TZV9A0A2U3TZV9_HUMAN
Girdin
CCDC88A
1,797Annotation score:
A0A2R8Y4X4A0A2R8Y4X4_HUMAN
Girdin
CCDC88A
1,406Annotation score:
A0A2R8Y4W8A0A2R8Y4W8_HUMAN
Girdin
CCDC88A
1,493Annotation score:
A0A2R8YG52A0A2R8YG52_HUMAN
Girdin
CCDC88A
828Annotation score:
A0A2R8YD81A0A2R8YD81_HUMAN
Girdin
CCDC88A
317Annotation score:
A0A2R8Y6B2A0A2R8Y6B2_HUMAN
Girdin
CCDC88A
526Annotation score:
There are more potential isoformsShow all

Sequence cautioni

The sequence AAY14932 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAD97945 differs from that shown. Intron retention at the C-terminus.Curated
The sequence CAI46020 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1066K → E in CAI46020 (PubMed:17974005).Curated1
Sequence conflicti1081A → T in CAD97945 (PubMed:17974005).Curated1
Sequence conflicti1661S → P in CAD97945 (PubMed:17974005).Curated1
Sequence conflicti1710V → I in CAI46020 (PubMed:17974005).Curated1
Sequence conflicti1799Y → H in CAD98038 (PubMed:17974005).Curated1
Sequence conflicti1836D → G in CAI46020 (PubMed:17974005).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_040129952Missing in isoform 3, isoform 4 and isoform 5. 3 Publications1
Alternative sequenceiVSP_0524091463 – 1491MVALK…RRSMS → T in isoform 2 and isoform 4. 4 PublicationsAdd BLAST29
Alternative sequenceiVSP_0449431733 – 1806Missing in isoform 5. 1 PublicationAdd BLAST74

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.
CCDSiCCDS33203.1 [Q3V6T2-2]
CCDS46288.1 [Q3V6T2-3]
CCDS58710.1 [Q3V6T2-5]
RefSeqiNP_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 [Q3V6T2-1]
XP_011531268.1, XM_011532966.2 [Q3V6T2-1]
XP_011531269.1, XM_011532967.2 [Q3V6T2-2]
UniGeneiHs.292925

Genome annotation databases

EnsembliENST00000263630; ENSP00000263630; ENSG00000115355 [Q3V6T2-2]
ENST00000336838; ENSP00000338728; ENSG00000115355 [Q3V6T2-3]
ENST00000436346; ENSP00000410608; ENSG00000115355 [Q3V6T2-1]
ENST00000642200; ENSP00000495919; ENSG00000115355 [Q3V6T2-1]
ENST00000643413; ENSP00000494811; ENSG00000115355 [Q3V6T2-4]
ENST00000646796; ENSP00000493703; ENSG00000115355 [Q3V6T2-5]
GeneIDi55704
KEGGihsa:55704
UCSCiuc002ryv.3 human [Q3V6T2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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.
CCDSiCCDS33203.1 [Q3V6T2-2]
CCDS46288.1 [Q3V6T2-3]
CCDS58710.1 [Q3V6T2-5]
RefSeqiNP_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 [Q3V6T2-1]
XP_011531268.1, XM_011532966.2 [Q3V6T2-1]
XP_011531269.1, XM_011532967.2 [Q3V6T2-2]
UniGeneiHs.292925

3D structure databases

ProteinModelPortaliQ3V6T2
SMRiQ3V6T2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120829, 95 interactors
CORUMiQ3V6T2
DIPiDIP-50784N
IntActiQ3V6T2, 47 interactors
MINTiQ3V6T2
STRINGi9606.ENSP00000338728

PTM databases

iPTMnetiQ3V6T2
PhosphoSitePlusiQ3V6T2

Polymorphism and mutation databases

BioMutaiCCDC88A
DMDMi147644956

Proteomic databases

EPDiQ3V6T2
MaxQBiQ3V6T2
PaxDbiQ3V6T2
PeptideAtlasiQ3V6T2
PRIDEiQ3V6T2
ProteomicsDBi61886
61887 [Q3V6T2-2]
61888 [Q3V6T2-3]
61889 [Q3V6T2-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263630; ENSP00000263630; ENSG00000115355 [Q3V6T2-2]
ENST00000336838; ENSP00000338728; ENSG00000115355 [Q3V6T2-3]
ENST00000436346; ENSP00000410608; ENSG00000115355 [Q3V6T2-1]
ENST00000642200; ENSP00000495919; ENSG00000115355 [Q3V6T2-1]
ENST00000643413; ENSP00000494811; ENSG00000115355 [Q3V6T2-4]
ENST00000646796; ENSP00000493703; ENSG00000115355 [Q3V6T2-5]
GeneIDi55704
KEGGihsa:55704
UCSCiuc002ryv.3 human [Q3V6T2-1]

Organism-specific databases

CTDi55704
DisGeNETi55704
EuPathDBiHostDB:ENSG00000115355.15
GeneCardsiCCDC88A
HGNCiHGNC:25523 CCDC88A
HPAiHPA038101
HPA038102
MalaCardsiCCDC88A
MIMi609736 gene
617507 phenotype
neXtProtiNX_Q3V6T2
OpenTargetsiENSG00000115355
Orphaneti99807 PEHO-like syndrome
PharmGKBiPA162381751
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4643 Eukaryota
ENOG410YFRJ LUCA
GeneTreeiENSGT00690000101702
HOGENOMiHOG000112146
HOVERGENiHBG057867
InParanoidiQ3V6T2
OMAiEQFVRPG
OrthoDBiEOG091G01AJ
PhylomeDBiQ3V6T2
TreeFamiTF320231

Enzyme and pathway databases

SIGNORiQ3V6T2

Miscellaneous databases

ChiTaRSiCCDC88A human
GeneWikiiCCDC88A
GenomeRNAii55704
PROiPR:Q3V6T2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115355 Expressed in 208 organ(s), highest expression level in testis
CleanExiHS_CCDC88A
ExpressionAtlasiQ3V6T2 baseline and differential
GenevisibleiQ3V6T2 HS

Family and domain databases

Gene3Di1.10.418.10, 1 hit
InterProiView protein in InterPro
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR027717 Girdin
IPR008636 Hook-like_fam
PANTHERiPTHR18947:SF30 PTHR18947:SF30, 1 hit
PfamiView protein in Pfam
PF05622 HOOK, 1 hit
PROSITEiView protein in PROSITE
PS50021 CH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGRDN_HUMAN
AccessioniPrimary (citable) accession number: Q3V6T2
Secondary accession number(s): A1IGE7
, B7ZM78, C9JG83, Q53SF1, Q581G3, Q5HYD0, Q7Z339, Q7Z3C5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 15, 2007
Last modified: November 7, 2018
This is version 117 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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