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Protein

Ankyrin repeat and SAM domain-containing protein 3

Gene

ANKS3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat and SAM domain-containing protein 3
Gene namesi
Name:ANKS3
Synonyms:KIAA1977
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:29422. ANKS3.

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi450D → K: Decreased homooligomerization. No effect on interaction with ANKS6. 1 Publication1
Mutagenesisi455I → E: Decreased homooligomerization. No effect on interaction with ANKS6. 1 Publication1
Mutagenesisi466E → K: Decreased homooligomerization. No effect on interaction with ANKS6. 1 Publication1
Mutagenesisi471L → E: Decreased homooligomerization. Decreased interaction with ANKS6. 1 Publication1
Mutagenesisi472F → E: Decreased homooligomerization. Decreased interaction with ANKS6. 1 Publication1
Mutagenesisi477K → E: Decreased homooligomerization. Decreased interaction with ANKS6. 1 Publication1

Organism-specific databases

DisGeNETi124401.
OpenTargetsiENSG00000168096.
PharmGKBiPA143485303.

Polymorphism and mutation databases

BioMutaiANKS3.
DMDMi74749704.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002307771 – 656Ankyrin repeat and SAM domain-containing protein 3Add BLAST656

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2PhosphoserineBy similarity1
Modified residuei5PhosphoserineBy similarity1
Modified residuei963-hydroxyasparagineBy similarity1
Modified residuei375PhosphoserineBy similarity1

Post-translational modificationi

Hydroxylated at Asn-96, most probably by HIF1AN.By similarity

Keywords - PTMi

Hydroxylation, Phosphoprotein

Proteomic databases

MaxQBiQ6ZW76.
PaxDbiQ6ZW76.
PeptideAtlasiQ6ZW76.
PRIDEiQ6ZW76.

PTM databases

iPTMnetiQ6ZW76.
PhosphoSitePlusiQ6ZW76.

Expressioni

Gene expression databases

BgeeiENSG00000168096.
CleanExiHS_ANKS3.
ExpressionAtlasiQ6ZW76. baseline and differential.
GenevisibleiQ6ZW76. HS.

Organism-specific databases

HPAiHPA041409.
HPA041482.

Interactioni

Subunit structurei

Homooligomer (PubMed:24998259). Interacts with ANKS6 (PubMed:24998259). Interacts with BICC1. Interacts with NPHP1. Interacts with NEK8. Interacts with HIF1AN (By similarity).By similarity1 Publication

Protein-protein interaction databases

BioGridi125861. 6 interactors.
IntActiQ6ZW76. 5 interactors.
MINTiMINT-2878533.
STRINGi9606.ENSP00000304586.

Structurei

Secondary structure

1656
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi430 – 436Combined sources7
Helixi440 – 442Combined sources3
Helixi443 – 448Combined sources6
Helixi453 – 456Combined sources4
Helixi461 – 467Combined sources7
Helixi472 – 484Combined sources13

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NJ8X-ray1.60A/B421-490[»]
4NL9X-ray1.50A/B421-490[»]
ProteinModelPortaliQ6ZW76.
SMRiQ6ZW76.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati34 – 64ANK 1Add BLAST31
Repeati68 – 97ANK 2Add BLAST30
Repeati101 – 130ANK 3Add BLAST30
Repeati134 – 163ANK 4Add BLAST30
Repeati168 – 197ANK 5Add BLAST30
Repeati201 – 220ANK 6Add BLAST20
Domaini425 – 488SAMPROSITE-ProRule annotationAdd BLAST64

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili501 – 526Sequence analysisAdd BLAST26

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi329 – 382Ser-richAdd BLAST54

Domaini

The SAM domain mediates homooligomerization and interaction with ANKS6.1 Publication

Sequence similaritiesi

Contains 6 ANK repeats.PROSITE-ProRule annotation
Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00840000129724.
HOGENOMiHOG000033945.
HOVERGENiHBG056617.
InParanoidiQ6ZW76.
OMAiGHMKIVA.
OrthoDBiEOG091G02Y7.
PhylomeDBiQ6ZW76.
TreeFamiTF331487.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
1.25.40.20. 3 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF12796. Ank_2. 2 hits.
PF00536. SAM_1. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 6 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 4 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q6ZW76-1) [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
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
Length:656
Mass (Da):72,038
Last modified:July 5, 2004 - v1
Checksum:i67BD772ED762A5BA
GO
Isoform 2 (identifier: Q6ZW76-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Note: No experimental confirmation available.
Show »
Length:583
Mass (Da):63,990
Checksum:iDF9E2FBF2C4F959A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti51 – 56VKECVQ → HILRLF in BAB85563 (PubMed:11853319).Curated6
Sequence conflicti472F → S in BAG63156 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048283404A → T.1 PublicationCorresponds to variant rs863980dbSNPEnsembl.1
Natural variantiVAR_048284593A → T.Corresponds to variant rs9936675dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0381831 – 73Missing in isoform 2. 1 PublicationAdd BLAST73

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.
CCDSiCCDS10520.1. [Q6ZW76-1]
RefSeqiNP_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]
UniGeneiHs.654859.

Genome annotation databases

EnsembliENST00000304283; ENSP00000304586; ENSG00000168096. [Q6ZW76-1]
ENST00000585773; ENSP00000465294; ENSG00000168096. [Q6ZW76-2]
ENST00000614075; ENSP00000480350; ENSG00000168096. [Q6ZW76-1]
GeneIDi124401.
KEGGihsa:124401.
UCSCiuc002cxj.3. human. [Q6ZW76-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS10520.1. [Q6ZW76-1]
RefSeqiNP_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]
UniGeneiHs.654859.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NJ8X-ray1.60A/B421-490[»]
4NL9X-ray1.50A/B421-490[»]
ProteinModelPortaliQ6ZW76.
SMRiQ6ZW76.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125861. 6 interactors.
IntActiQ6ZW76. 5 interactors.
MINTiMINT-2878533.
STRINGi9606.ENSP00000304586.

PTM databases

iPTMnetiQ6ZW76.
PhosphoSitePlusiQ6ZW76.

Polymorphism and mutation databases

BioMutaiANKS3.
DMDMi74749704.

Proteomic databases

MaxQBiQ6ZW76.
PaxDbiQ6ZW76.
PeptideAtlasiQ6ZW76.
PRIDEiQ6ZW76.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304283; ENSP00000304586; ENSG00000168096. [Q6ZW76-1]
ENST00000585773; ENSP00000465294; ENSG00000168096. [Q6ZW76-2]
ENST00000614075; ENSP00000480350; ENSG00000168096. [Q6ZW76-1]
GeneIDi124401.
KEGGihsa:124401.
UCSCiuc002cxj.3. human. [Q6ZW76-1]

Organism-specific databases

CTDi124401.
DisGeNETi124401.
GeneCardsiANKS3.
HGNCiHGNC:29422. ANKS3.
HPAiHPA041409.
HPA041482.
neXtProtiNX_Q6ZW76.
OpenTargetsiENSG00000168096.
PharmGKBiPA143485303.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00840000129724.
HOGENOMiHOG000033945.
HOVERGENiHBG056617.
InParanoidiQ6ZW76.
OMAiGHMKIVA.
OrthoDBiEOG091G02Y7.
PhylomeDBiQ6ZW76.
TreeFamiTF331487.

Miscellaneous databases

GenomeRNAii124401.
PROiQ6ZW76.

Gene expression databases

BgeeiENSG00000168096.
CleanExiHS_ANKS3.
ExpressionAtlasiQ6ZW76. baseline and differential.
GenevisibleiQ6ZW76. HS.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
1.25.40.20. 3 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF12796. Ank_2. 2 hits.
PF00536. SAM_1. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 6 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 4 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiANKS3_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 109 of the entry and version 1 of the sequence. [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 16
    Human chromosome 16: 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.