Q68DC2 (ANKS6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	ANKS6
Synonyms:	ANKRD14, SAMD6

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	871 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required for renal function By similarity.
Sequence similarities	Contains 11 ANK repeats. Contains 1 SAM (sterile alpha motif) domain.
Sequence caution	The sequence AAH64367.1 differs from that shown. Reason: Erroneous initiation. The sequence BAC04317.1 differs from that shown. Reason: Erroneous initiation. The sequence CAH18298.1 differs from that shown. Reason: Erroneous initiation. The sequence CAH69985.2 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAH69986.2 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAH71295.2 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAH71296.2 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	ANK repeat Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q68DC2-1)

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.

Isoform 2 (identifier: Q68DC2-3)

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.

Isoform 3 (identifier: Q68DC2-4)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 871	871	Ankyrin repeat and SAM domain-containing protein 6		PRO_0000067065
Regions
	Repeat	8 – 37	30	ANK 1
	Repeat	77 – 106	30	ANK 2
	Repeat	110 – 139	30	ANK 3
	Repeat	143 – 172	30	ANK 4
	Repeat	190 – 219	30	ANK 5
	Repeat	224 – 253	30	ANK 6
	Repeat	257 – 289	33	ANK 7
	Repeat	291 – 321	31	ANK 8
	Repeat	325 – 354	30	ANK 9
	Repeat	359 – 388	30	ANK 10
	Repeat	392 – 423	32	ANK 11
	Domain	773 – 836	64	SAM
	Compositional bias	617 – 769	153	Ser-rich
Natural variations
	Alternative sequence	288 – 335	48	DEEKR…MLAAV → GQAACPPWLHRGPQIVFMWL KLRIALLEGHAELRVQPCRP LRLRKWCA in isoform 2.		VSP_016496
	Alternative sequence	336 – 871	536	Missing in isoform 2.		VSP_016497
	Alternative sequence	714	1	K → KQ in isoform 3.		VSP_016498
	Natural variant	644	1	V → I. Ref.3 Ref.4 Ref.5 Corresponds to variant rs6415847 [ dbSNP | Ensembl ].		VAR_034794
Experimental info
	Sequence conflict	244	1	L → P in CAH18298. Ref.3
	Sequence conflict	402	1	L → P in CAH18302. Ref.4
	Sequence conflict	647	1	S → G in BAC04317. Ref.5
	Sequence conflict	808	1	T → A in CAH18302. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 6, 2005. Version 2. Checksum: C4E3AFFE9C9DD6C8	FASTA	871	92,219
	10 20 30 40 50 60 MGEGGLPPAF QLLLRACDQG DTETARRLLE PGAAEPAERG AEPEAGAEPA GAEVAGPGAA 70 80 90 100 110 120 AAGAVGAPVP VDCSDEAGNT ALQFAAAGGH EPLVRFLLRR GASVNSRNHY GWSALMQAAR 130 140 150 160 170 180 FGHVSVAHLL LDHGADVNAQ NRLGASVLTV ASRGGHLGVV KLLLEAGAFV DHHHPSGEQL 190 200 210 220 230 240 GLGGSRDEPL DITALMAAIQ HGHEAVVRLL MEWGADPNHA ARTVGWSPLM LAALTGRLGV 250 260 270 280 290 300 AQQLVEKGAN PDHLSVLEKT AFEVALDCKH RDLVDYLDPL TTVRPKTDEE KRRPDIFHAL 310 320 330 340 350 360 KMGNFQLVKE IADEDPSHVN LVNGDGATPL MLAAVTGQLA LVQLLVERHA DVDKQDSVHG 370 380 390 400 410 420 WTALMQATYH GNKEIVKYLL NQGADVTLRA KNGYTAFDLV MLLNDPDTEL VRLLASVCMQ 430 440 450 460 470 480 VNKDKGRPSH QPPLPHSKVR QPWSIPVLPD DKGGLKSWWN RMSNRFRKLK LMQTLPRGLS 490 500 510 520 530 540 SNQPLPFSDE PEPALDSTMR AAPQDKTSRS ALPDAAPVTK DNGPGSTRGE KEDTLLTTML 550 560 570 580 590 600 RNGAPLTRLP SDKLKAVIPP FLPPSSFELW SSDRSRTRHN GKADPMKTAL PQRASRGHPV 610 620 630 640 650 660 GGGGTDTTPV RPVKFPSLPR SPASSANSGN FNHSPHSSGG SSGVGVSRHG GELLNRSGGS 670 680 690 700 710 720 IDNVLSQIAA QRKKAAGLLE QKPSHRSSPV GPAPGSSPSE LPASPAGGSA PVGKKLETSK 730 740 750 760 770 780 RPPSGTSTTS KSTSPTLTPS PSPKGHTAES SVSSSSSHRQ SKSSGGSSSG TITDEDELTG 790 800 810 820 830 840 ILKKLSLEKY QPIFEEQEVD MEAFLTLTDG DLKELGIKTD GSRQQILAAI SELNAGKGRE 850 860 870 RQILQETIHN FHSSFESSAS NTRAPGNSPC A
	Isoform 2 [UniParc]. Checksum: 88570D12C8D0A758	FASTA	335	35,392
	10 20 30 40 50 60 MGEGGLPPAF QLLLRACDQG DTETARRLLE PGAAEPAERG AEPEAGAEPA GAEVAGPGAA 70 80 90 100 110 120 AAGAVGAPVP VDCSDEAGNT ALQFAAAGGH EPLVRFLLRR GASVNSRNHY GWSALMQAAR 130 140 150 160 170 180 FGHVSVAHLL LDHGADVNAQ NRLGASVLTV ASRGGHLGVV KLLLEAGAFV DHHHPSGEQL 190 200 210 220 230 240 GLGGSRDEPL DITALMAAIQ HGHEAVVRLL MEWGADPNHA ARTVGWSPLM LAALTGRLGV 250 260 270 280 290 300 AQQLVEKGAN PDHLSVLEKT AFEVALDCKH RDLVDYLDPL TTVRPKTGQA ACPPWLHRGP 310 320 330 QIVFMWLKLR IALLEGHAEL RVQPCRPLRL RKWCA
	Isoform 3 [UniParc]. Checksum: AA7F61B02CE2427C	FASTA	872	92,347
	10 20 30 40 50 60 MGEGGLPPAF QLLLRACDQG DTETARRLLE PGAAEPAERG AEPEAGAEPA GAEVAGPGAA 70 80 90 100 110 120 AAGAVGAPVP VDCSDEAGNT ALQFAAAGGH EPLVRFLLRR GASVNSRNHY GWSALMQAAR 130 140 150 160 170 180 FGHVSVAHLL LDHGADVNAQ NRLGASVLTV ASRGGHLGVV KLLLEAGAFV DHHHPSGEQL 190 200 210 220 230 240 GLGGSRDEPL DITALMAAIQ HGHEAVVRLL MEWGADPNHA ARTVGWSPLM LAALTGRLGV 250 260 270 280 290 300 AQQLVEKGAN PDHLSVLEKT AFEVALDCKH RDLVDYLDPL TTVRPKTDEE KRRPDIFHAL 310 320 330 340 350 360 KMGNFQLVKE IADEDPSHVN LVNGDGATPL MLAAVTGQLA LVQLLVERHA DVDKQDSVHG 370 380 390 400 410 420 WTALMQATYH GNKEIVKYLL NQGADVTLRA KNGYTAFDLV MLLNDPDTEL VRLLASVCMQ 430 440 450 460 470 480 VNKDKGRPSH QPPLPHSKVR QPWSIPVLPD DKGGLKSWWN RMSNRFRKLK LMQTLPRGLS 490 500 510 520 530 540 SNQPLPFSDE PEPALDSTMR AAPQDKTSRS ALPDAAPVTK DNGPGSTRGE KEDTLLTTML 550 560 570 580 590 600 RNGAPLTRLP SDKLKAVIPP FLPPSSFELW SSDRSRTRHN GKADPMKTAL PQRASRGHPV 610 620 630 640 650 660 GGGGTDTTPV RPVKFPSLPR SPASSANSGN FNHSPHSSGG SSGVGVSRHG GELLNRSGGS 670 680 690 700 710 720 IDNVLSQIAA QRKKAAGLLE QKPSHRSSPV GPAPGSSPSE LPASPAGGSA PVGKQKLETS 730 740 750 760 770 780 KRPPSGTSTT SKSTSPTLTP SPSPKGHTAE SSVSSSSSHR QSKSSGGSSS GTITDEDELT 790 800 810 820 830 840 GILKKLSLEK YQPIFEEQEV DMEAFLTLTD GDLKELGIKT DGSRQQILAA ISELNAGKGR 850 860 870 ERQILQETIH NFHSSFESSA SNTRAPGNSP CA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] 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]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[7]	"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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00418361. IPI00478175. IPI00655743.
RefSeq	NP_775822.3. NM_173551.3.
UniGene	Hs.406890.
3D structure databases
ProteinModelPortal	Q68DC2.
ModBase	Search...
PTM databases
PhosphoSite	Q68DC2.
Polymorphism databases
DMDM	83305683.
Proteomic databases
PaxDb	Q68DC2.
PRIDE	Q68DC2.
Protocols and materials databases
DNASU	203286.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000353234; ENSP00000297837; ENSG00000165138. ENST00000375018; ENSP00000364158; ENSG00000165138. ENST00000375019; ENSP00000364159; ENSG00000165138.
GeneID	203286.
KEGG	hsa:203286.
UCSC	uc004ayt.3. human.
Organism-specific databases
CTD	203286.
GeneCards	GC09M101493.
H-InvDB	HIX0025696.
HGNC	HGNC:26724. ANKS6.
HPA	HPA008355.
neXtProt	NX_Q68DC2.
PharmGKB	PA134931829.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0666.
HOVERGEN	HBG059049.
OMA	TRLPNDK.
Gene expression databases
ArrayExpress	Q68DC2.
Bgee	Q68DC2.
CleanEx	HS_ANKS6.
Genevestigator	Q68DC2.
GermOnline	ENSG00000165138. Homo sapiens.
Family and domain databases
Gene3D	1.10.150.50. 1 hit. 1.25.40.20. 3 hits.
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR001660. SAM. IPR013761. SAM/pointed. IPR021129. SAM_type1. [Graphical view]
Pfam	PF12796. Ank_2. 3 hits. PF00536. SAM_1. 1 hit. [Graphical view]
PRINTS	PR01415. ANKYRIN.
SMART	SM00248. ANK. 9 hits. SM00454. SAM. 1 hit. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit. SSF47769. SAM_homology. 1 hit.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 7 hits. PS50105. SAM_DOMAIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	203286.
NextBio	90399.

Entry information

Entry name

ANKS6_HUMAN

Accession

Primary (citable) accession number: Q68DC2
Secondary accession number(s): A0SE62 , Q5VSL0, Q5VSL2, Q5VSL3, Q5VSL4, Q68DB8, Q6P2R2, Q8N9L6, Q96D62

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 6, 2005
Last sequence update:	December 6, 2005
Last modified:	May 1, 2013
This is version 85 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.