UniProtKB - Q6ZW76 (ANKS3_HUMAN)
Ankyrin repeat and SAM domain-containing protein 3
ANKS3
Functioni
Enzyme and pathway databases
PathwayCommonsi | Q6ZW76 |
Names & Taxonomyi
Protein namesi | Recommended name: Ankyrin repeat and SAM domain-containing protein 3 |
Gene namesi | Name:ANKS3 Synonyms:KIAA1977 |
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:29422, ANKS3 |
neXtProti | NX_Q6ZW76 |
VEuPathDBi | HostDB:ENSG00000168096.14 |
Pathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 450 | D → K: Decreased homooligomerization. No effect on interaction with ANKS6. 1 Publication | 1 | |
Mutagenesisi | 455 | I → E: Decreased homooligomerization. No effect on interaction with ANKS6. 1 Publication | 1 | |
Mutagenesisi | 466 | E → K: Decreased homooligomerization. No effect on interaction with ANKS6. 1 Publication | 1 | |
Mutagenesisi | 471 | L → E: Decreased homooligomerization. Decreased interaction with ANKS6. 1 Publication | 1 | |
Mutagenesisi | 472 | F → E: Decreased homooligomerization. Decreased interaction with ANKS6. 1 Publication | 1 | |
Mutagenesisi | 477 | K → E: Decreased homooligomerization. Decreased interaction with ANKS6. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 124401 |
MalaCardsi | ANKS3 |
OpenTargetsi | ENSG00000168096 |
Orphaneti | 101063, Situs inversus totalis |
PharmGKBi | PA143485303 |
Miscellaneous databases
Pharosi | Q6ZW76, Tdark |
Genetic variation databases
BioMutai | ANKS3 |
DMDMi | 74749704 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000230777 | 1 – 656 | Ankyrin repeat and SAM domain-containing protein 3Add BLAST | 656 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | PhosphoserineBy similarity | 1 | |
Modified residuei | 5 | PhosphoserineBy similarity | 1 | |
Modified residuei | 96 | 3-hydroxyasparagineBy similarity | 1 | |
Modified residuei | 201 | PhosphoserineBy similarity | 1 | |
Modified residuei | 225 | PhosphoserineBy similarity | 1 | |
Modified residuei | 243 | PhosphoserineBy similarity | 1 | |
Modified residuei | 244 | PhosphoserineBy similarity | 1 | |
Modified residuei | 245 | PhosphoserineBy similarity | 1 | |
Modified residuei | 319 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 320 | PhosphoserineBy similarity | 1 | |
Modified residuei | 368 | PhosphoserineBy similarity | 1 | |
Modified residuei | 371 | PhosphoserineBy similarity | 1 | |
Modified residuei | 375 | PhosphoserineBy similarity | 1 | |
Modified residuei | 541 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Hydroxylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q6ZW76 |
jPOSTi | Q6ZW76 |
MassIVEi | Q6ZW76 |
MaxQBi | Q6ZW76 |
PaxDbi | Q6ZW76 |
PeptideAtlasi | Q6ZW76 |
PRIDEi | Q6ZW76 |
ProteomicsDBi | 68467 [Q6ZW76-1] 68468 [Q6ZW76-2] |
PTM databases
iPTMneti | Q6ZW76 |
PhosphoSitePlusi | Q6ZW76 |
Expressioni
Gene expression databases
Bgeei | ENSG00000168096, Expressed in muscle tissue and 174 other tissues |
ExpressionAtlasi | Q6ZW76, baseline and differential |
Genevisiblei | Q6ZW76, HS |
Organism-specific databases
HPAi | ENSG00000168096, Low tissue specificity |
Interactioni
Subunit structurei
Homooligomer (PubMed:24998259).
Interacts (via SAM domain) with ANKS6 (via SAM domain) (PubMed:24998259).
Interacts with BICC1 (By similarity).
Interacts with NPHP1 (By similarity).
Interacts with NEK8 (By similarity).
Interacts with HIF1AN (By similarity).
Interacts with NEK7; this interaction alters the subcellular distribution of NEK7 by preventing its nuclear translocation (PubMed:26188091).
By similarity2 PublicationsProtein-protein interaction databases
BioGRIDi | 125861, 15 interactors |
IntActi | Q6ZW76, 10 interactors |
STRINGi | 9606.ENSP00000304586 |
Miscellaneous databases
RNActi | Q6ZW76, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q6ZW76 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 34 – 64 | ANK 1Add BLAST | 31 | |
Repeati | 68 – 97 | ANK 2Add BLAST | 30 | |
Repeati | 101 – 130 | ANK 3Add BLAST | 30 | |
Repeati | 134 – 163 | ANK 4Add BLAST | 30 | |
Repeati | 168 – 197 | ANK 5Add BLAST | 30 | |
Repeati | 201 – 220 | ANK 6Add BLAST | 20 | |
Domaini | 425 – 488 | SAMPROSITE-ProRule annotationAdd BLAST | 64 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 422 | Interaction with NEK7By similarityAdd BLAST | 422 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 501 – 526 | Sequence analysisAdd BLAST | 26 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 329 – 382 | Ser-richAdd BLAST | 54 |
Domaini
Keywords - Domaini
ANK repeat, Coiled coil, RepeatPhylogenomic databases
eggNOGi | KOG0504, Eukaryota |
GeneTreei | ENSGT00940000156610 |
HOGENOMi | CLU_014543_0_0_1 |
InParanoidi | Q6ZW76 |
OMAi | PQGYVTF |
OrthoDBi | 58543at2759 |
PhylomeDBi | Q6ZW76 |
TreeFami | TF331487 |
Family and domain databases
Gene3Di | 1.10.150.50, 1 hit 1.25.40.20, 1 hit |
InterProi | View protein in InterPro IPR002110, Ankyrin_rpt IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf IPR001660, SAM IPR013761, SAM/pointed_sf |
Pfami | View protein in Pfam PF12796, Ank_2, 2 hits PF00536, SAM_1, 1 hit |
PRINTSi | PR01415, ANKYRIN |
SMARTi | View protein in SMART SM00248, ANK, 6 hits SM00454, SAM, 1 hit |
SUPFAMi | SSF47769, SSF47769, 1 hit SSF48403, SSF48403, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 4 hits PS50105, SAM_DOMAIN, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 16 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
MSELSDEASE PELLNRSLSM WHGLGTQVSG EELDVPLDLH TAASIGQYEV
60 70 80 90 100
VKECVQRREL DLNKKNGGGW TPLMYASYIG HDTIVHLLLE AGVSVNVPTP
110 120 130 140 150
EGQTPLMLAS SCGNESIAYF LLQQGAELEM KDIQGWTALF HCTSAGHQHM
160 170 180 190 200
VRFLLDSGAN ANVREPICGF TPLMEAAAAG HEIIVQYFLN HGVKVDARDH
210 220 230 240 250
SGATARMLAK QYGHMKIVAL MDTYSPSLPK SLYRSPEKYE DLSSSDESCP
260 270 280 290 300
APQRQRPCRK KGVSIHEGPR ALARITGIGL GGRAPRPRYE QAPPRGYVTF
310 320 330 340 350
NSSGENPLEE EGLCCRDVTS PINERDVESS SSSSSREEHA FCANLGPVQS
360 370 380 390 400
SSSSEGLARA QGLSSEASVE SNEDSDHACK SSARKQAKSY MKTKNPDSQW
410 420 430 440 450
PPRAATDREG FLAESSPQTQ RAPYSGPQDL AALLEQIGCL KYLQVFEEQD
460 470 480 490 500
VDLRIFLTLT ESDLKEIGIT LFGPKRKMTS AIARWHSSAR PPGDALELAY
510 520 530 540 550
ADRLEAEMQE LAIQLHKRCE EVEATRGQVC QEQELRAVVE SCLLEQDRAR
560 570 580 590 600
EDLQARLRET WALARDAALV LDQLRACQAE LSSRVRQDQP PGAATLGLAV
610 620 630 640 650
PPADSKGWQA SLQAMSLPEL SGALEDRVRE MGQALCLVTQ SLEKLQVLNG
KKWRET
Computationally mapped potential isoform sequencesi
There are 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF6WF08 | F6WF08_HUMAN | Ankyrin repeat and SAM domain-conta... | ANKS3 | 549 | Annotation score: | ||
D3DUE4 | D3DUE4_HUMAN | Ankyrin repeat and SAM domain-conta... | ANKS3 hCG_15183 | 527 | Annotation score: | ||
K7ELU8 | K7ELU8_HUMAN | Ankyrin repeat and SAM domain-conta... | ANKS3 | 318 | Annotation score: | ||
K7ERF3 | K7ERF3_HUMAN | Ankyrin repeat and SAM domain-conta... | ANKS3 | 255 | Annotation score: | ||
K7EJS9 | K7EJS9_HUMAN | Ankyrin repeat and SAM domain-conta... | ANKS3 | 214 | Annotation score: | ||
K7EJY2 | K7EJY2_HUMAN | Ankyrin repeat and SAM domain-conta... | ANKS3 | 172 | Annotation score: | ||
K7EKD2 | K7EKD2_HUMAN | Ankyrin repeat and SAM domain-conta... | ANKS3 | 163 | Annotation score: | ||
K7EPL7 | K7EPL7_HUMAN | Ankyrin repeat and SAM domain-conta... | ANKS3 | 289 | Annotation score: | ||
K7EM53 | K7EM53_HUMAN | Ankyrin repeat and SAM domain-conta... | ANKS3 | 133 | Annotation score: | ||
K7ERR7 | K7ERR7_HUMAN | Ankyrin repeat and SAM domain-conta... | ANKS3 | 166 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 51 – 56 | VKECVQ → HILRLF in BAB85563 (PubMed:11853319).Curated | 6 | |
Sequence conflicti | 472 | F → S in BAG63156 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048283 | 404 | A → T1 PublicationCorresponds to variant dbSNP:rs863980Ensembl. | 1 | |
Natural variantiVAR_048284 | 593 | A → T. Corresponds to variant dbSNP:rs9936675Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_038183 | 1 – 73 | Missing in isoform 2. 1 PublicationAdd BLAST | 73 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK123496 mRNA Translation: BAC85629.1 AK301683 mRNA Translation: BAG63156.1 CH471112 Genomic DNA Translation: EAW85271.1 CH471112 Genomic DNA Translation: EAW85272.1 CH471112 Genomic DNA Translation: EAW85273.1 AB075857 mRNA Translation: BAB85563.1 |
CCDSi | CCDS10520.1 [Q6ZW76-1] |
RefSeqi | NP_001229858.1, NM_001242929.1 NP_001295018.1, NM_001308089.1 NP_597707.1, NM_133450.3 [Q6ZW76-1] XP_005255176.1, XM_005255119.3 XP_011520675.1, XM_011522373.1 [Q6ZW76-1] |
Genome annotation databases
Ensembli | ENST00000304283; ENSP00000304586; ENSG00000168096 [Q6ZW76-1] ENST00000585773; ENSP00000465294; ENSG00000168096 [Q6ZW76-2] ENST00000614075; ENSP00000480350; ENSG00000168096 [Q6ZW76-1] |
GeneIDi | 124401 |
KEGGi | hsa:124401 |
UCSCi | uc002cxj.3, human [Q6ZW76-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK123496 mRNA Translation: BAC85629.1 AK301683 mRNA Translation: BAG63156.1 CH471112 Genomic DNA Translation: EAW85271.1 CH471112 Genomic DNA Translation: EAW85272.1 CH471112 Genomic DNA Translation: EAW85273.1 AB075857 mRNA Translation: BAB85563.1 |
CCDSi | CCDS10520.1 [Q6ZW76-1] |
RefSeqi | NP_001229858.1, NM_001242929.1 NP_001295018.1, NM_001308089.1 NP_597707.1, NM_133450.3 [Q6ZW76-1] XP_005255176.1, XM_005255119.3 XP_011520675.1, XM_011522373.1 [Q6ZW76-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4NJ8 | X-ray | 1.60 | A/B | 421-490 | [»] | |
4NL9 | X-ray | 1.50 | A/B | 421-490 | [»] | |
SMRi | Q6ZW76 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 125861, 15 interactors |
IntActi | Q6ZW76, 10 interactors |
STRINGi | 9606.ENSP00000304586 |
PTM databases
iPTMneti | Q6ZW76 |
PhosphoSitePlusi | Q6ZW76 |
Genetic variation databases
BioMutai | ANKS3 |
DMDMi | 74749704 |
Proteomic databases
EPDi | Q6ZW76 |
jPOSTi | Q6ZW76 |
MassIVEi | Q6ZW76 |
MaxQBi | Q6ZW76 |
PaxDbi | Q6ZW76 |
PeptideAtlasi | Q6ZW76 |
PRIDEi | Q6ZW76 |
ProteomicsDBi | 68467 [Q6ZW76-1] 68468 [Q6ZW76-2] |
Protocols and materials databases
Antibodypediai | 24396, 85 antibodies |
Genome annotation databases
Ensembli | ENST00000304283; ENSP00000304586; ENSG00000168096 [Q6ZW76-1] ENST00000585773; ENSP00000465294; ENSG00000168096 [Q6ZW76-2] ENST00000614075; ENSP00000480350; ENSG00000168096 [Q6ZW76-1] |
GeneIDi | 124401 |
KEGGi | hsa:124401 |
UCSCi | uc002cxj.3, human [Q6ZW76-1] |
Organism-specific databases
CTDi | 124401 |
DisGeNETi | 124401 |
GeneCardsi | ANKS3 |
HGNCi | HGNC:29422, ANKS3 |
HPAi | ENSG00000168096, Low tissue specificity |
MalaCardsi | ANKS3 |
neXtProti | NX_Q6ZW76 |
OpenTargetsi | ENSG00000168096 |
Orphaneti | 101063, Situs inversus totalis |
PharmGKBi | PA143485303 |
VEuPathDBi | HostDB:ENSG00000168096.14 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0504, Eukaryota |
GeneTreei | ENSGT00940000156610 |
HOGENOMi | CLU_014543_0_0_1 |
InParanoidi | Q6ZW76 |
OMAi | PQGYVTF |
OrthoDBi | 58543at2759 |
PhylomeDBi | Q6ZW76 |
TreeFami | TF331487 |
Enzyme and pathway databases
PathwayCommonsi | Q6ZW76 |
Miscellaneous databases
BioGRID-ORCSi | 124401, 5 hits in 996 CRISPR screens |
GenomeRNAii | 124401 |
Pharosi | Q6ZW76, Tdark |
PROi | PR:Q6ZW76 |
RNActi | Q6ZW76, protein |
Gene expression databases
Bgeei | ENSG00000168096, Expressed in muscle tissue and 174 other tissues |
ExpressionAtlasi | Q6ZW76, baseline and differential |
Genevisiblei | Q6ZW76, HS |
Family and domain databases
Gene3Di | 1.10.150.50, 1 hit 1.25.40.20, 1 hit |
InterProi | View protein in InterPro IPR002110, Ankyrin_rpt IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf IPR001660, SAM IPR013761, SAM/pointed_sf |
Pfami | View protein in Pfam PF12796, Ank_2, 2 hits PF00536, SAM_1, 1 hit |
PRINTSi | PR01415, ANKYRIN |
SMARTi | View protein in SMART SM00248, ANK, 6 hits SM00454, SAM, 1 hit |
SUPFAMi | SSF47769, SSF47769, 1 hit SSF48403, SSF48403, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 4 hits PS50105, SAM_DOMAIN, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ANKS3_HUMAN | |
Accessioni | Q6ZW76Primary (citable) accession number: Q6ZW76 Secondary accession number(s): B4DWU4, D3DUE2, Q8TF25 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 4, 2006 |
Last sequence update: | July 5, 2004 | |
Last modified: | April 7, 2021 | |
This is version 144 of the entry and version 1 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 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - PDB cross-references
Index of Protein Data Bank (PDB) cross-references