Reviewed, UniProtKB/Swiss-Prot Q68DC2 (ANKS6_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat and SAM domain-containing protein 6
Alternative name(s):
    Sterile alpha motif domain-containing protein 6
    SamCystin
    Ankyrin repeat domain-containing protein 14

Gene names

Name:	ANKS6
Synonyms:	ANKRD14, SAMD6

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	871 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript 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	CAH69985.2 sequence differs from that shown. Reason: Erroneous gene model prediction. CAH69986.2 sequence differs from that shown. Reason: Erroneous gene model prediction. CAH71295.2 sequence differs from that shown. Reason: Erroneous gene model prediction. CAH71296.2 sequence differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	ANK repeat Repeat
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 4 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: Q68DC2-2) The sequence of this isoform differs from the canonical sequence as follows:      1-94: Missing.      95-119: RFLLRRGASVNSRNHYGWSALMQAA → MPIKDDISWPPSAVCSVSLILHLPG      288-335: DEEKRRPDIF...GATPLMLAAV → GQAACPPWLH...RPLRLRKWCA      336-871: Missing.
Notes: No experimental confirmation available.
Sequence annotation (Features)
	Feature key	Position(s)	Length	Description	Graphical view
	Sequence conflict	98	1	I → R in AAH12981. Ref.3
Isoform 3 (identifier: Q68DC2-3) The sequence of this isoform differs from the canonical sequence as follows:      288-335: DEEKRRPDIF...GATPLMLAAV → GQAACPPWLH...RPLRLRKWCA      336-871: Missing.
Notes: Gene prediction confirmed by EST data.
Isoform 4 (identifier: Q68DC2-4) The sequence of this isoform differs from the canonical sequence as follows:      714-714: K → KQ
Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 871	871	Ankyrin repeat and SAM domain-containing protein 6
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	1 – 94	94	Missing in isoform 2.
	Alternative sequence	95 – 119	25	RFLLR…LMQAA → MPIKDDISWPPSAVCSVSLI LHLPG in isoform 2.
	Alternative sequence	288 – 335	48	DEEKR…MLAAV → GQAACPPWLHRGPQIVFMWL KLRIALLEGHAELRVQPCRP LRLRKWCA in isoform 2 and isoform 3.
	Alternative sequence	336 – 871	536	Missing in isoform 2 and isoform 3.
	Alternative sequence	714	1	K → KQ in isoform 4.
	Natural variant	644	1	V → I: dbSNP rs6415847.
Experimental info
	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
	Sequence conflict	870 – 871	2	CA → SMVGWVRPEETASGKR in CAH69986 and CAH71296. Ref.2

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: C312F416D600C115		241	26,180
	10 20 30 40 50 60 MPIKDDISWP PSAVCSVSLI LHLPGRFGHV SVAHLLLDHG ADVNAQNRLG ASVLTVASRG 70 80 90 100 110 120 GHLGVVKLLL EAGAFVDHHH PSGEQLGLGG SRDEPLDITA LMAAIQHGHE AVVRLLMEWG 130 140 150 160 170 180 ADPNHAARTV GWSPLMLAAL TGRLGVAQQL VEKGANPDHL SVLEKTAFEV ALDCKHRDLV 190 200 210 220 230 240 DYLDPLTTVR PKTGQAACPP WLHRGPQIVF MWLKLRIALL EGHAELRVQP CRPLRLRKWC A
	Isoform 3 [UniParc]. Checksum: 88570D12C8D0A758		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 4 [UniParc]. Checksum: AA7F61B02CE2427C		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

[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: 16207829] [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: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 322-871 (ISOFORM 1), VARIANT ILE-644. Tissue: Lymph and Skin.
[4]	The German cDNA consortium Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 94-871 (ISOFORM 1), VARIANT ILE-644. Tissue: Fetal kidney and Uterus.
[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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 533-871 (ISOFORM 4), VARIANT ILE-644. Tissue: Cerebellum.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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. BC012981 mRNA. Translation: AAH12981.1. BC064367 mRNA. Translation: AAH64367.1. Different initiation. CR749467 mRNA. Translation: CAH18298.1. Different initiation. CR749472 mRNA. Translation: CAH18302.1. AK094247 mRNA. Translation: BAC04317.1. Different initiation.
RefSeq	NP_775822.3.
UniGene	Hs.406890
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000165138. Homo sapiens. [Contig view]
GeneID	203286.
KEGG	hsa:203286.
Organism-specific databases
HGNC	HGNC:26724. ANKS6.
HPA	HPA008355.
GenAtlas	Search...
GeneCards	Search...
GeneLynx	Search...
Phylogenomic databases
HOVERGEN	Q68DC2.
Gene expression databases
ArrayExpress	Q68DC2.
CleanEx	HS_ANKS6.
GermOnline	ENSG00000165138. Homo sapiens.
Family and domain databases
InterPro	IPR002110. ANK. IPR001660. SAM. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 2 hits.
Pfam	PF00023. Ank. 8 hits. PF00536. SAM_1. 1 hit. [Graphical view]
PRINTS	PR01415. ANKYRIN.
SMART	SM00248. ANK. 9 hits. SM00454. SAM. 1 hit. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 7 hits. PS50105. SAM_DOMAIN. 1 hit. [Graphical view]
ProDom	Q68DC2. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
ProtoNet	Search...

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:	July 22, 2008
This is version 40 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)