Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q68DC2

- ANKS6_HUMAN

UniProt

Q68DC2 - ANKS6_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Ankyrin repeat and SAM domain-containing protein 6

Gene

ANKS6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:26724. ANKS6.

Subcellular locationi

Cell projectioncilium By similarity. Cytoplasm By similarity
Note: Localizes to the proximal region of the primary cilium in the presence of INVS.By similarity

GO - Cellular componenti

  1. cilium Source: UniProtKB-KW
  2. cytoplasm Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis 16 (NPHP16) [MIM:615382]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti312 – 3121A → P in NPHP16. 1 Publication
VAR_070106
Natural varianti441 – 4411Q → R in NPHP16.
Corresponds to variant rs377750405 [ dbSNP | Ensembl ].
VAR_070108

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Nephronophthisis

Organism-specific databases

MIMi615382. phenotype.
Orphaneti93591. Infantile autosomal recessive medullary cystic kidney disease.
93592. Juvenile autosomal recessive medullary cystic kidney disease.
PharmGKBiPA134931829.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 871871Ankyrin repeat and SAM domain-containing protein 6PRO_0000067065Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei138 – 13813-hydroxyasparagineBy similarity

Post-translational modificationi

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

Keywords - PTMi

Hydroxylation

Proteomic databases

MaxQBiQ68DC2.
PaxDbiQ68DC2.
PRIDEiQ68DC2.

PTM databases

PhosphoSiteiQ68DC2.

Expressioni

Gene expression databases

BgeeiQ68DC2.
CleanExiHS_ANKS6.
ExpressionAtlasiQ68DC2. baseline and differential.
GenevestigatoriQ68DC2.

Organism-specific databases

HPAiHPA008355.

Interactioni

Subunit structurei

Self-associates. Interacts (via SAM domain) with BICC1 (via KH domains) in an RNA-dependent manner (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.By similarity1 Publication

Protein-protein interaction databases

BioGridi128464. 1 interaction.
IntActiQ68DC2. 1 interaction.
MINTiMINT-8201748.

Structurei

Secondary structure

1
871
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi778 – 7847Combined sources
Helixi788 – 7903Combined sources
Helixi791 – 7966Combined sources
Helixi801 – 8044Combined sources
Helixi809 – 8157Combined sources
Helixi820 – 83415Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4NL9X-ray1.50C/D771-840[»]
ProteinModelPortaliQ68DC2.
SMRiQ68DC2. Positions 11-416, 776-836.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati8 – 3730ANK 1Add
BLAST
Repeati77 – 10630ANK 2Add
BLAST
Repeati110 – 13930ANK 3Add
BLAST
Repeati143 – 17230ANK 4Add
BLAST
Repeati190 – 21930ANK 5Add
BLAST
Repeati224 – 25330ANK 6Add
BLAST
Repeati257 – 28933ANK 7Add
BLAST
Repeati291 – 32131ANK 8Add
BLAST
Repeati325 – 35430ANK 9Add
BLAST
Repeati359 – 38830ANK 10Add
BLAST
Repeati392 – 42332ANK 11Add
BLAST
Domaini773 – 83664SAMPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi617 – 769153Ser-richAdd
BLAST

Domaini

The ankyrin repeats and the SAM domain are essential for self-association (By similarity). Ankyrin repeats are necessary and sufficient for NEK8-binding.By similarity1 Publication

Sequence similaritiesi

Contains 11 ANK repeats.PROSITE-ProRule annotation
Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiCOG0666.
GeneTreeiENSGT00760000118867.
HOVERGENiHBG059049.
InParanoidiQ68DC2.
OMAiDRKHRDL.
OrthoDBiEOG7DRJ2G.
PhylomeDBiQ68DC2.
TreeFamiTF328552.

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.
IPR021129. SAM_type1.
[Graphical view]
PfamiPF12796. Ank_2. 3 hits.
PF00536. SAM_1. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 9 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 3 hits.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 7 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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 AAH64367.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC04317.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH18298.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH69985.2 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAH69986.2 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAH71295.2 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAH71296.2 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti244 – 2441L → P in CAH18298. (PubMed:17974005)Curated
Sequence conflicti402 – 4021L → P in CAH18302. (PubMed:15489334)Curated
Sequence conflicti647 – 6471S → G in BAC04317. (PubMed:14702039)Curated
Sequence conflicti808 – 8081T → A in CAH18302. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti222 – 2221R → W.1 Publication
Corresponds to variant rs41283630 [ dbSNP | Ensembl ].
VAR_070105
Natural varianti312 – 3121A → P in NPHP16. 1 Publication
VAR_070106
Natural varianti440 – 4401R → Q.1 Publication
VAR_070107
Natural varianti441 – 4411Q → R in NPHP16.
Corresponds to variant rs377750405 [ dbSNP | Ensembl ].
VAR_070108
Natural varianti640 – 6401G → S.1 Publication
VAR_070109
Natural varianti644 – 6441V → I.4 Publications
Corresponds to variant rs6415847 [ dbSNP | Ensembl ].
VAR_034794
Natural varianti735 – 7351P → A.1 Publication
Corresponds to variant rs79414550 [ dbSNP | Ensembl ].
VAR_070110

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei288 – 33548DEEKR…MLAAV → GQAACPPWLHRGPQIVFMWL KLRIALLEGHAELRVQPCRP LRLRKWCA in isoform 2. CuratedVSP_016496Add
BLAST
Alternative sequencei336 – 871536Missing in isoform 2. CuratedVSP_016497Add
BLAST
Alternative sequencei714 – 7141K → KQ in isoform 3. 1 PublicationVSP_016498

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_173551.3. [Q68DC2-1]
XP_006717061.1. XM_006716998.1. [Q68DC2-4]
UniGeneiHs.406890.

Genome annotation databases

EnsembliENST00000353234; ENSP00000297837; ENSG00000165138. [Q68DC2-1]
GeneIDi203286.
KEGGihsa:203286.
UCSCiuc004ayt.3. human. [Q68DC2-1]

Polymorphism databases

DMDMi83305683.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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.
CCDSi CCDS43856.1. [Q68DC2-1 ]
RefSeqi NP_775822.3. NM_173551.3. [Q68DC2-1 ]
XP_006717061.1. XM_006716998.1. [Q68DC2-4 ]
UniGenei Hs.406890.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4NL9 X-ray 1.50 C/D 771-840 [» ]
ProteinModelPortali Q68DC2.
SMRi Q68DC2. Positions 11-416, 776-836.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128464. 1 interaction.
IntActi Q68DC2. 1 interaction.
MINTi MINT-8201748.

PTM databases

PhosphoSitei Q68DC2.

Polymorphism databases

DMDMi 83305683.

Proteomic databases

MaxQBi Q68DC2.
PaxDbi Q68DC2.
PRIDEi Q68DC2.

Protocols and materials databases

DNASUi 203286.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000353234 ; ENSP00000297837 ; ENSG00000165138 . [Q68DC2-1 ]
GeneIDi 203286.
KEGGi hsa:203286.
UCSCi uc004ayt.3. human. [Q68DC2-1 ]

Organism-specific databases

CTDi 203286.
GeneCardsi GC09M101493.
H-InvDB HIX0025696.
HGNCi HGNC:26724. ANKS6.
HPAi HPA008355.
MIMi 615370. gene.
615382. phenotype.
neXtProti NX_Q68DC2.
Orphaneti 93591. Infantile autosomal recessive medullary cystic kidney disease.
93592. Juvenile autosomal recessive medullary cystic kidney disease.
PharmGKBi PA134931829.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0666.
GeneTreei ENSGT00760000118867.
HOVERGENi HBG059049.
InParanoidi Q68DC2.
OMAi DRKHRDL.
OrthoDBi EOG7DRJ2G.
PhylomeDBi Q68DC2.
TreeFami TF328552.

Miscellaneous databases

ChiTaRSi ANKS6. human.
GenomeRNAii 203286.
NextBioi 90399.
PROi Q68DC2.
SOURCEi Search...

Gene expression databases

Bgeei Q68DC2.
CleanExi HS_ANKS6.
ExpressionAtlasi Q68DC2. baseline and differential.
Genevestigatori Q68DC2.

Family and domain databases

Gene3Di 1.10.150.50. 1 hit.
1.25.40.20. 3 hits.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view ]
Pfami PF12796. Ank_2. 3 hits.
PF00536. SAM_1. 1 hit.
[Graphical view ]
PRINTSi PR01415. ANKYRIN.
SMARTi SM00248. ANK. 9 hits.
SM00454. SAM. 1 hit.
[Graphical view ]
SUPFAMi SSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 3 hits.
PROSITEi PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 7 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat."
    Brown J.H., Bihoreau M.-T., Hoffmann S., Kranzlin B., Tychinskaya I., Obermuller N., Podlich D., Boehn S.N., Kaisaki P.J., Megel N., Danoy P., Copley R.R., Broxholme J., Witzgall R., Lathrop M., Gretz N., Gauguier D.
    J. Am. Soc. Nephrol. 16:3517-3526(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 94-871 (ISOFORM 1), VARIANT ILE-644.
    Tissue: Fetal kidney and Uterus.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 322-871 (ISOFORM 1), VARIANT ILE-644.
    Tissue: Skin.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 533-871 (ISOFORM 3), VARIANT ILE-644.
    Tissue: Cerebellum.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  9. "Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat."
    Kaisaki P.J., Bergmann C., Brown J.H., Outeda P., Lens X.M., Peters D.J., Gretz N., Gauguier D., Bihoreau M.T.
    Eur. J. Med. Genet. 51:325-331(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TRP-222; GLN-440; SER-640; ILE-644 AND ALA-735.
  10. Cited for: VARIANTS NPHP16 PRO-312 AND GLN441ARG, FUNCTION, INTERACTION WITH INVS; NEK8 AND NPHP3, DOMAIN.

Entry informationi

Entry nameiANKS6_HUMAN
AccessioniPrimary (citable) accession number: Q68DC2
Secondary accession number(s): A0SE62
, Q5VSL0, Q5VSL2, Q5VSL3, Q5VSL4, Q68DB8, Q6P2R2, Q8N9L6, Q96D62
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: December 6, 2005
Last modified: November 26, 2014
This is version 101 of the entry and version 2 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 9
    Human chromosome 9: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3