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Protein

Ankyrin repeat and SAM domain-containing protein 6

Gene

ANKS6

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

Functioni

Required for renal function.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat and SAM domain-containing protein 6
Alternative name(s):
Ankyrin repeat domain-containing protein 14
SamCystin
Sterile alpha motif domain-containing protein 6
Short name:
SAM domain-containing protein 6
Gene namesi
Name:ANKS6
Synonyms:ANKRD14, PKDR1, SAMD6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000165138.17
HGNCiHGNC:26724 ANKS6
MIMi615370 gene
neXtProtiNX_Q68DC2

Subcellular locationi

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis 16 (NPHP16)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis.
See also OMIM:615382
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070106312A → P in NPHP16. 1 Publication1
Natural variantiVAR_070108441Q → R in NPHP16. Corresponds to variant dbSNP:rs377750405EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi798E → K: Loss of interaction with ANKS3. 1 Publication1
Mutagenesisi811D → K: Loss of interaction with ANKS3. 1 Publication1
Mutagenesisi823R → W: Loss of interaction with ANKS3. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Nephronophthisis

Organism-specific databases

DisGeNETi203286
MalaCardsiANKS6
MIMi615382 phenotype
OpenTargetsiENSG00000165138
Orphaneti93591 Infantile nephronophthisis
93592 Juvenile nephronophthisis
PharmGKBiPA134931829

Polymorphism and mutation databases

BioMutaiANKS6
DMDMi83305683

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000670651 – 871Ankyrin repeat and SAM domain-containing protein 6Add BLAST871

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1383-hydroxyasparagineBy similarity1
Modified residuei657PhosphoserineCombined sources1
Modified residuei734PhosphoserineCombined sources1
Modified residuei742PhosphoserineCombined sources1

Post-translational modificationi

Hydroxylated at Asn-138, most probably by HIF1AN. This hydroxylation results in decreased NEK8-binding.By similarity

Keywords - PTMi

Hydroxylation, Phosphoprotein

Proteomic databases

EPDiQ68DC2
MaxQBiQ68DC2
PaxDbiQ68DC2
PeptideAtlasiQ68DC2
PRIDEiQ68DC2
ProteomicsDBi66071
66072 [Q68DC2-3]
66073 [Q68DC2-4]

PTM databases

iPTMnetiQ68DC2
PhosphoSitePlusiQ68DC2

Expressioni

Gene expression databases

BgeeiENSG00000165138
CleanExiHS_ANKS6
ExpressionAtlasiQ68DC2 baseline and differential
GenevisibleiQ68DC2 HS

Organism-specific databases

HPAiHPA008355

Interactioni

Subunit structurei

Homooligomer (By similarity). Central component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme (PubMed:23793029). Interacts (via SAM domain) with BICC1 (via KH domains) in an RNA-dependent manner (By similarity). Interacts with ANKS3 (PubMed:24998259).By similarity2 Publications

Protein-protein interaction databases

BioGridi128464, 14 interactors
CORUMiQ68DC2
IntActiQ68DC2, 14 interactors
MINTiQ68DC2
STRINGi9606.ENSP00000297837

Structurei

Secondary structure

1871
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi778 – 784Combined sources7
Helixi788 – 790Combined sources3
Helixi791 – 796Combined sources6
Helixi801 – 804Combined sources4
Helixi809 – 815Combined sources7
Helixi820 – 834Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NL9X-ray1.50C/D771-840[»]
ProteinModelPortaliQ68DC2
SMRiQ68DC2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati8 – 37ANK 1Add BLAST30
Repeati77 – 106ANK 2Add BLAST30
Repeati110 – 139ANK 3Add BLAST30
Repeati143 – 172ANK 4Add BLAST30
Repeati190 – 219ANK 5Add BLAST30
Repeati224 – 253ANK 6Add BLAST30
Repeati257 – 289ANK 7Add BLAST33
Repeati291 – 321ANK 8Add BLAST31
Repeati325 – 354ANK 9Add BLAST30
Repeati359 – 388ANK 10Add BLAST30
Repeati392 – 423ANK 11Add BLAST32
Domaini773 – 836SAMPROSITE-ProRule annotationAdd BLAST64

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi617 – 769Ser-richAdd BLAST153

Domaini

The ankyrin repeats are necessary and sufficient for NEK8-binding.1 Publication
The SAM domain mediates interaction with the SAM domain of ANKS3.1 Publication

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
KOG4374 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00920000148967
HOVERGENiHBG059049
InParanoidiQ68DC2
KOiK21415
OMAiCMQVDKD
OrthoDBiEOG091G029E
PhylomeDBiQ68DC2
TreeFamiTF328552

Family and domain databases

CDDicd00204 ANK, 2 hits
Gene3Di1.25.40.20, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
PfamiView protein in Pfam
PF12796 Ank_2, 3 hits
PF00536 SAM_1, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 9 hits
SM00454 SAM, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 3 hits
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 7 hits
PS50105 SAM_DOMAIN, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q68DC2-1) [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
MGEGGLPPAF QLLLRACDQG DTETARRLLE PGAAEPAERG AEPEAGAEPA
60 70 80 90 100
GAEVAGPGAA AAGAVGAPVP VDCSDEAGNT ALQFAAAGGH EPLVRFLLRR
110 120 130 140 150
GASVNSRNHY GWSALMQAAR FGHVSVAHLL LDHGADVNAQ NRLGASVLTV
160 170 180 190 200
ASRGGHLGVV KLLLEAGAFV DHHHPSGEQL GLGGSRDEPL DITALMAAIQ
210 220 230 240 250
HGHEAVVRLL MEWGADPNHA ARTVGWSPLM LAALTGRLGV AQQLVEKGAN
260 270 280 290 300
PDHLSVLEKT AFEVALDCKH RDLVDYLDPL TTVRPKTDEE KRRPDIFHAL
310 320 330 340 350
KMGNFQLVKE IADEDPSHVN LVNGDGATPL MLAAVTGQLA LVQLLVERHA
360 370 380 390 400
DVDKQDSVHG WTALMQATYH GNKEIVKYLL NQGADVTLRA KNGYTAFDLV
410 420 430 440 450
MLLNDPDTEL VRLLASVCMQ VNKDKGRPSH QPPLPHSKVR QPWSIPVLPD
460 470 480 490 500
DKGGLKSWWN RMSNRFRKLK LMQTLPRGLS SNQPLPFSDE PEPALDSTMR
510 520 530 540 550
AAPQDKTSRS ALPDAAPVTK DNGPGSTRGE KEDTLLTTML RNGAPLTRLP
560 570 580 590 600
SDKLKAVIPP FLPPSSFELW SSDRSRTRHN GKADPMKTAL PQRASRGHPV
610 620 630 640 650
GGGGTDTTPV RPVKFPSLPR SPASSANSGN FNHSPHSSGG SSGVGVSRHG
660 670 680 690 700
GELLNRSGGS IDNVLSQIAA QRKKAAGLLE QKPSHRSSPV GPAPGSSPSE
710 720 730 740 750
LPASPAGGSA PVGKKLETSK RPPSGTSTTS KSTSPTLTPS PSPKGHTAES
760 770 780 790 800
SVSSSSSHRQ SKSSGGSSSG TITDEDELTG ILKKLSLEKY QPIFEEQEVD
810 820 830 840 850
MEAFLTLTDG DLKELGIKTD GSRQQILAAI SELNAGKGRE RQILQETIHN
860 870
FHSSFESSAS NTRAPGNSPC A
Length:871
Mass (Da):92,219
Last modified:December 6, 2005 - v2
Checksum:iC4E3AFFE9C9DD6C8
GO
Isoform 2 (identifier: Q68DC2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     288-335: DEEKRRPDIF...GATPLMLAAV → GQAACPPWLH...RPLRLRKWCA
     336-871: Missing.

Note: Gene prediction confirmed by EST data.
Show »
Length:335
Mass (Da):35,392
Checksum:i88570D12C8D0A758
GO
Isoform 3 (identifier: Q68DC2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     714-714: K → KQ

Note: No experimental confirmation available.
Show »
Length:872
Mass (Da):92,347
Checksum:iAA7F61B02CE2427C
GO

Sequence cautioni

The sequence AAH64367 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC04317 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH18298 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH69985 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH69986 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH71295 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH71296 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti244L → P in CAH18298 (PubMed:17974005).Curated1
Sequence conflicti402L → P in CAH18302 (PubMed:15489334).Curated1
Sequence conflicti647S → G in BAC04317 (PubMed:14702039).Curated1
Sequence conflicti808T → A in CAH18302 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070105222R → W1 PublicationCorresponds to variant dbSNP:rs41283630EnsemblClinVar.1
Natural variantiVAR_070106312A → P in NPHP16. 1 Publication1
Natural variantiVAR_070107440R → Q1 PublicationCorresponds to variant dbSNP:rs763855876Ensembl.1
Natural variantiVAR_070108441Q → R in NPHP16. Corresponds to variant dbSNP:rs377750405EnsemblClinVar.1
Natural variantiVAR_070109640G → S1 PublicationCorresponds to variant dbSNP:rs749102463Ensembl.1
Natural variantiVAR_034794644V → I4 PublicationsCorresponds to variant dbSNP:rs6415847EnsemblClinVar.1
Natural variantiVAR_070110735P → A1 PublicationCorresponds to variant dbSNP:rs79414550EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_016496288 – 335DEEKR…MLAAV → GQAACPPWLHRGPQIVFMWL KLRIALLEGHAELRVQPCRP LRLRKWCA in isoform 2. CuratedAdd BLAST48
Alternative sequenceiVSP_016497336 – 871Missing in isoform 2. CuratedAdd BLAST536
Alternative sequenceiVSP_016498714K → KQ in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ309791
, DQ309777, DQ309778, DQ309779, DQ309780, DQ309781, DQ309782, DQ309783, DQ309784, DQ309785, DQ309786, DQ309787, DQ309788, DQ309789, DQ309790 Genomic DNA Translation: ABC48694.1
AL353782, AL807776 Genomic DNA Translation: CAH71295.2 Sequence problems.
AL353782, AL807776 Genomic DNA Translation: CAH71296.2 Sequence problems.
AL353782, AL807776 Genomic DNA Translation: CAM14169.1
AL807776, AL353782 Genomic DNA Translation: CAH69985.2 Sequence problems.
AL807776, AL353782 Genomic DNA Translation: CAH69986.2 Sequence problems.
AL807776, AL353782 Genomic DNA Translation: CAM13062.1
CR749467 mRNA Translation: CAH18298.1 Different initiation.
CR749472 mRNA Translation: CAH18302.1
BC064367 mRNA Translation: AAH64367.1 Different initiation.
AK094247 mRNA Translation: BAC04317.1 Different initiation.
CCDSiCCDS43856.1 [Q68DC2-1]
RefSeqiNP_775822.3, NM_173551.4 [Q68DC2-1]
XP_006717061.1, XM_006716998.3 [Q68DC2-4]
XP_016869934.1, XM_017014445.1 [Q68DC2-1]
UniGeneiHs.406890

Genome annotation databases

EnsembliENST00000353234; ENSP00000297837; ENSG00000165138 [Q68DC2-1]
GeneIDi203286
KEGGihsa:203286
UCSCiuc004ayu.4 human [Q68DC2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiANKS6_HUMAN
AccessioniPrimary (citable) accession number: Q68DC2
Secondary accession number(s): A0SE62
, Q5VSL0, Q5VSL2, Q5VSL3, Q5VSL4, Q68DB8, Q6P2R2, Q8N9L6, Q96D62
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: December 6, 2005
Last modified: June 20, 2018
This is version 137 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

3D-structure, Complete proteome, Reference proteome

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