Reviewed, UniProtKB/Swiss-Prot Q9NVP4 (CT012_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat-containing protein C20orf12

Gene names

Name:	C20orf12
Synonyms:	C20orf84

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	579 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Sequence similarities	Contains 2 ANK repeats.
Sequence caution	The sequence BAB70949.1 differs from that shown. Reason: Erroneous termination at position 396. Translated as Trp.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Domain	ANK repeat Repeat
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	intracellular Inferred from electronic annotation. Source: InterPro
Molecular function	zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NVP4-1)

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: Q9NVP4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     241-241: E → EPRCAWQ

Note: No experimental confirmation available.

Isoform 3 (identifier: Q9NVP4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     146-186: Missing.

Isoform 4 (identifier: Q9NVP4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     6-6: S → SFQRVHWKSQLMVEDQVLDHPPASPRQDTVPFTFKSFLFGHSMEIRPWKRKGRTLFRRLL

Isoform 5 (identifier: Q9NVP4-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-7: MLTLESF → MTAGSVCVPQ...SGSRPPTRQS
     365-424: NLYLNKAVNF...KNFKTKTFQE → VRKLRLREVK...HTWQPETFPS

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 579	579	Ankyrin repeat-containing protein C20orf12		PRO_0000066986
Regions
	Repeat	432 – 463	32	ANK 1
	Repeat	467 – 496	30	ANK 2
	Compositional bias	154 – 157	4	Poly-Pro
Natural variations
	Alternative sequence	1 – 7	7	MLTLESF → MTAGSVCVPQIIPLRVPQPG KANHEIDNNTLLEMKSDTPD VNIYYTLDGSKPEFLKRIGY GENNTFKYIKPITLPDGKIQ VKAIAVSKDCRQSGIVTKVF HVDYEPPNIVSPEDNVENVL KDSSRQEFKNGFVGSKLKKK YKNSENQRSWNVNLRKFPES PLEIPAYGGGSGSRPPTRQS in isoform 5.		VSP_018538
	Alternative sequence	6	1	S → SFQRVHWKSQLMVEDQVLDH PPASPRQDTVPFTFKSFLFG HSMEIRPWKRKGRTLFRRLL in isoform 4.		VSP_018539
	Alternative sequence	146 – 186	41	Missing in isoform 3.		VSP_018540
	Alternative sequence	241	1	E → EPRCAWQ in isoform 2.		VSP_000274
	Alternative sequence	365 – 424	60	NLYLN…KTFQE → VRKLRLREVKQPASSKGTKL VSGRPRIHTWQPETFPS in isoform 5.		VSP_018541
Experimental info
	Sequence conflict	99	1	A → V in BAB70949. Ref.1
	Sequence conflict	430	1	I → L in AAZ13595. Ref.4
	Sequence conflict	493	1	D → N in BAA91706. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 15, 2002. Version 2. Checksum: 04867861537E7084	FASTA	579	62,909
	10 20 30 40 50 60 MLTLESFQSP GFAHVSGQKC LTSTEIMRIQ RETDFLKCAH CLAPRPSDPF ARFCQECGSP 70 80 90 100 110 120 VPPIFGCRLP PPEGAQMGLC AECRSLVPMN TPICVVCEAP LALQLQPQAS LHLKEKVICR 130 140 150 160 170 180 ACGTGNPAHL RYCVTCEGAL PSSQESMCSG DKAPPPPTQK GGTISCYRCG RWNLWEASFC 190 200 210 220 230 240 GWCGAMLGIP AGCSVCPKCG ASNHLSARFC GSCGICVKSL VKLSLDRSLA LAAEEPRPFS 250 260 270 280 290 300 ESLNIPLPRS DVGTKRDIGT QTVGLFYPSG KLLAKKEQEL ASQKQRQEKM SDHKPLLTAI 310 320 330 340 350 360 SPGRGYWRRQ LDHISAHLRC YAQNNPEFRA LIAEPRMGKL ISATVHEDGC EVSIRLNYSQ 370 380 390 400 410 420 VSNKNLYLNK AVNFSDHLLS SAAEGDGGLC GSRSSWVSDY SQSTSDTIEK IKRIKNFKTK 430 440 450 460 470 480 TFQEKKEQLI PENRLLLKEV GPTGEGRVSV IEQLLDEGAD PNCCDEDNRP VITVAVMNKH 490 500 510 520 530 540 HEAIPVLVQR GADIDQQWGP LRNTALHEAT LLGLAGREST ATLLGCNASI QKKNAGGQTA 550 560 570 YDLALNTGDD LVTSLFAAKF GQGLEDQLAQ TRSLSLDDC
	Isoform 2. Checksum: 76E4D520E669D34E	FASTA	585	63,651
	10 20 30 40 50 60 MLTLESFQSP GFAHVSGQKC LTSTEIMRIQ RETDFLKCAH CLAPRPSDPF ARFCQECGSP 70 80 90 100 110 120 VPPIFGCRLP PPEGAQMGLC AECRSLVPMN TPICVVCEAP LALQLQPQAS LHLKEKVICR 130 140 150 160 170 180 ACGTGNPAHL RYCVTCEGAL PSSQESMCSG DKAPPPPTQK GGTISCYRCG RWNLWEASFC 190 200 210 220 230 240 GWCGAMLGIP AGCSVCPKCG ASNHLSARFC GSCGICVKSL VKLSLDRSLA LAAEEPRPFS 250 260 270 280 290 300 EPRCAWQSLN IPLPRSDVGT KRDIGTQTVG LFYPSGKLLA KKEQELASQK QRQEKMSDHK 310 320 330 340 350 360 PLLTAISPGR GYWRRQLDHI SAHLRCYAQN NPEFRALIAE PRMGKLISAT VHEDGCEVSI 370 380 390 400 410 420 RLNYSQVSNK NLYLNKAVNF SDHLLSSAAE GDGGLCGSRS SWVSDYSQST SDTIEKIKRI 430 440 450 460 470 480 KNFKTKTFQE KKEQLIPENR LLLKEVGPTG EGRVSVIEQL LDEGADPNCC DEDNRPVITV 490 500 510 520 530 540 AVMNKHHEAI PVLVQRGADI DQQWGPLRNT ALHEATLLGL AGRESTATLL GCNASIQKKN 550 560 570 580 AGGQTAYDLA LNTGDDLVTS LFAAKFGQGL EDQLAQTRSL SLDDC
	Isoform 3. Checksum: 8F8B8AA5420F475E	FASTA	538	58,486
	10 20 30 40 50 60 MLTLESFQSP GFAHVSGQKC LTSTEIMRIQ RETDFLKCAH CLAPRPSDPF ARFCQECGSP 70 80 90 100 110 120 VPPIFGCRLP PPEGAQMGLC AECRSLVPMN TPICVVCEAP LALQLQPQAS LHLKEKVICR 130 140 150 160 170 180 ACGTGNPAHL RYCVTCEGAL PSSQELGIPA GCSVCPKCGA SNHLSARFCG SCGICVKSLV 190 200 210 220 230 240 KLSLDRSLAL AAEEPRPFSE SLNIPLPRSD VGTKRDIGTQ TVGLFYPSGK LLAKKEQELA 250 260 270 280 290 300 SQKQRQEKMS DHKPLLTAIS PGRGYWRRQL DHISAHLRCY AQNNPEFRAL IAEPRMGKLI 310 320 330 340 350 360 SATVHEDGCE VSIRLNYSQV SNKNLYLNKA VNFSDHLLSS AAEGDGGLCG SRSSWVSDYS 370 380 390 400 410 420 QSTSDTIEKI KRIKNFKTKT FQEKKEQLIP ENRLLLKEVG PTGEGRVSVI EQLLDEGADP 430 440 450 460 470 480 NCCDEDNRPV ITVAVMNKHH EAIPVLVQRG ADIDQQWGPL RNTALHEATL LGLAGRESTA 490 500 510 520 530 TLLGCNASIQ KKNAGGQTAY DLALNTGDDL VTSLFAAKFG QGLEDQLAQT RSLSLDDC
	Isoform 4. Checksum: 25C63FE48F1B0E6E	FASTA	638	70,071
	10 20 30 40 50 60 MLTLESFQRV HWKSQLMVED QVLDHPPASP RQDTVPFTFK SFLFGHSMEI RPWKRKGRTL 70 80 90 100 110 120 FRRLLFQSPG FAHVSGQKCL TSTEIMRIQR ETDFLKCAHC LAPRPSDPFA RFCQECGSPV 130 140 150 160 170 180 PPIFGCRLPP PEGAQMGLCA ECRSLVPMNT PICVVCEAPL ALQLQPQASL HLKEKVICRA 190 200 210 220 230 240 CGTGNPAHLR YCVTCEGALP SSQESMCSGD KAPPPPTQKG GTISCYRCGR WNLWEASFCG 250 260 270 280 290 300 WCGAMLGIPA GCSVCPKCGA SNHLSARFCG SCGICVKSLV KLSLDRSLAL AAEEPRPFSE 310 320 330 340 350 360 SLNIPLPRSD VGTKRDIGTQ TVGLFYPSGK LLAKKEQELA SQKQRQEKMS DHKPLLTAIS 370 380 390 400 410 420 PGRGYWRRQL DHISAHLRCY AQNNPEFRAL IAEPRMGKLI SATVHEDGCE VSIRLNYSQV 430 440 450 460 470 480 SNKNLYLNKA VNFSDHLLSS AAEGDGGLCG SRSSWVSDYS QSTSDTIEKI KRIKNFKTKT 490 500 510 520 530 540 FQEKKEQLIP ENRLLLKEVG PTGEGRVSVI EQLLDEGADP NCCDEDNRPV ITVAVMNKHH 550 560 570 580 590 600 EAIPVLVQRG ADIDQQWGPL RNTALHEATL LGLAGRESTA TLLGCNASIQ KKNAGGQTAY 610 620 630 DLALNTGDDL VTSLFAAKFG QGLEDQLAQT RSLSLDDC
	Isoform 5. Checksum: 48414F15AD79D16D	FASTA	729	79,789
	10 20 30 40 50 60 MTAGSVCVPQ IIPLRVPQPG KANHEIDNNT LLEMKSDTPD VNIYYTLDGS KPEFLKRIGY 70 80 90 100 110 120 GENNTFKYIK PITLPDGKIQ VKAIAVSKDC RQSGIVTKVF HVDYEPPNIV SPEDNVENVL 130 140 150 160 170 180 KDSSRQEFKN GFVGSKLKKK YKNSENQRSW NVNLRKFPES PLEIPAYGGG SGSRPPTRQS 190 200 210 220 230 240 QSPGFAHVSG QKCLTSTEIM RIQRETDFLK CAHCLAPRPS DPFARFCQEC GSPVPPIFGC 250 260 270 280 290 300 RLPPPEGAQM GLCAECRSLV PMNTPICVVC EAPLALQLQP QASLHLKEKV ICRACGTGNP 310 320 330 340 350 360 AHLRYCVTCE GALPSSQESM CSGDKAPPPP TQKGGTISCY RCGRWNLWEA SFCGWCGAML 370 380 390 400 410 420 GIPAGCSVCP KCGASNHLSA RFCGSCGICV KSLVKLSLDR SLALAAEEPR PFSESLNIPL 430 440 450 460 470 480 PRSDVGTKRD IGTQTVGLFY PSGKLLAKKE QELASQKQRQ EKMSDHKPLL TAISPGRGYW 490 500 510 520 530 540 RRQLDHISAH LRCYAQNNPE FRALIAEPRM GKLISATVHE DGCEVSIRLN YSQVSNKVRK 550 560 570 580 590 600 LRLREVKQPA SSKGTKLVSG RPRIHTWQPE TFPSKKEQLI PENRLLLKEV GPTGEGRVSV 610 620 630 640 650 660 IEQLLDEGAD PNCCDEDNRP VITVAVMNKH HEAIPVLVQR GADIDQQWGP LRNTALHEAT 670 680 690 700 710 720 LLGLAGREST ATLLGCNASI QKKNAGGQTA YDLALNTGDD LVTSLFAAKF GQGLEDQLAQ TRSLSLDDC

References

[1]	"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] (ISOFORMS 1; 2 AND 5). Tissue: Hair follicle dermal papilla, Neuron and Testis.
[2]	"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: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Fetal brain.
[3]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Zhou G., Nong W., Li H., Ke R., Shen C., Zhong G., Zheng Z., Liang M., Huang B., Lin L., Yang S. Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 77-579 (ISOFORM 3).

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK001462 mRNA. Translation: BAA91706.1. Different initiation. AK055544 mRNA. Translation: BAB70949.1. Sequence problems. AK131451 mRNA. Translation: BAD18596.1. CR749327 mRNA. Translation: CAH18182.1. AL049646, AL121893 Genomic DNA. Translation: CAI21830.1. AL049646, AL121893 Genomic DNA. Translation: CAI21831.1. AL121893, AL049646 Genomic DNA. Translation: CAI12510.1. AL121893, AL049646 Genomic DNA. Translation: CAI12511.1. DQ104738 mRNA. Translation: AAZ13595.1.
IPI	IPI00470914. IPI00472239. IPI00514911. IPI00744796. IPI00749404.
RefSeq	NP_001092877.1.
UniGene	Hs.472225
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NVP4. 1 interaction.
PTM databases
PhosphoSite	Q9NVP4.
Proteomic databases
PRIDE	Q9NVP4.
Genome annotation databases
Ensembl	ENST00000357236; ENSP00000349774; ENSG00000089091; Homo sapiens. [Genome view]
GeneID	55184.
KEGG	hsa:55184.
UCSC	uc002wqs.2. human.
Organism-specific databases
CTD	55184.
GeneCards	GC20M018312.
HGNC	HGNC:15858. C20orf12.
PharmGKB	PA25660.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9NVP4.
Gene expression databases
ArrayExpress	Q9NVP4.
Bgee	Q9NVP4.
CleanEx	HS_C20orf12.
Genevestigator	Q9NVP4.
GermOnline	ENSG00000089091. Homo sapiens.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR001876. Znf_RanBP2. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF00023. Ank. 3 hits. [Graphical view]
SMART	SM00248. ANK. 2 hits. SM00547. ZnF_RBZ. 2 hits. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	59019.

Entry information

Entry name

CT012_HUMAN

Accession

Primary (citable) accession number: Q9NVP4
Secondary accession number(s): Q4F7X1 , Q5QPD9, Q5QPE0, Q68DN8, Q6ZMX9, Q96NF0, Q9H1E0, Q9H442

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 15, 2002
Last sequence update:	November 15, 2002
Last modified:	November 24, 2009
This is version 72 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.