Reviewed, UniProtKB/Swiss-Prot Q7Z3H0 (ANR33_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat domain-containing protein 33

Gene names

Name:	ANKRD33
Synonyms:	C12orf7

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

General annotation (Comments)

Sequence similarities

Contains 3 ANK repeats.

Ontologies

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q7Z3H0-1)

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: Q7Z3H0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MKVQPSVTCV...QVDSNGRTGL
     79-88: Missing.
     222-272: VPAEAQSFRT...EDGIGQAGNR → GTAPPPPLVP...QEEEARMAQK

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 272	272	Ankyrin repeat domain-containing protein 33		PRO_0000243908
Regions
	Repeat	29 – 58	30	ANK 1
	Repeat	64 – 93	30	ANK 2
	Repeat	98 – 132	35	ANK 3
Natural variations
	Alternative sequence	1	1	M → MKVQPSVTCVASWGGIVHLE AFGDPVIVLRGAWAVPRVDC LIDTLRTPNASCMRKGTHLL VPCLEEEELALHRRRLDMSE ALPCPGKETPTPGCRLGALY WACVHNDPTQLQAILDGGVS PEEATQVDSNGRTGL in isoform 2.		VSP_019489
	Alternative sequence	79 – 88	10	Missing in isoform 2.		VSP_019490
	Alternative sequence	222 – 272	51	VPAEA…QAGNR → GTAPPPPLVPQSPPGSPQRS PWVFVPYQSPQGILSKCLQW LQPRDSTSPRPQVPKILLSK ASSSSHQCQPKPSPSGHQSL ALPLWRYQELRIEKRKQEEE ARMAQK in isoform 2.		VSP_019491
	Natural variant	5	1	Y → F: dbSNP rs697636. Ref.1		VAR_059121
	Natural variant	132	1	Q → R: dbSNP rs34494292. Ref.1		VAR_059122
	Natural variant	188	1	T → N: dbSNP rs12368048.		VAR_059123
	Natural variant	261	1	V → I: dbSNP rs3180417.		VAR_059124
Experimental info
	Sequence conflict	178	1	G → S in CAD97893. Ref.2
	Sequence conflict	178	1	G → S in CAE45798. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 27, 2006. Version 2. Checksum: 9A6C4629D9FDA808	FASTA	272	29,083
	10 20 30 40 50 60 MVACYHGFQS VVALLSHCPF LDVNQQDKGG DTALMLAAQA GHVPLVSLLL NYYVGLDLER 70 80 90 100 110 120 RDQRGLTALM KAAMRNRCEC VATLLMAGAD LTAVDPVRGK TALEWAVLTD SFDTVWRIRQ 130 140 150 160 170 180 LLRRPQVEQL SQHYKPEWPA LSGLVAQAQA QAQVAPSLLE RLQATLSLPF APSPQEGGVL 190 200 210 220 230 240 DHLVTATTSL ASPFVTTACH TLCPDHPPSL GTRSKSVPEL LVPAEAQSFR TPKSGPSSLA 250 260 270 IPGAQDREEE TGGGGQNGTE VEEDGIGQAG NR
	Isoform 2. Checksum: BCA0198AB5A9AFC3	FASTA	451	49,272
	10 20 30 40 50 60 MKVQPSVTCV ASWGGIVHLE AFGDPVIVLR GAWAVPRVDC LIDTLRTPNA SCMRKGTHLL 70 80 90 100 110 120 VPCLEEEELA LHRRRLDMSE ALPCPGKETP TPGCRLGALY WACVHNDPTQ LQAILDGGVS 130 140 150 160 170 180 PEEATQVDSN GRTGLVACYH GFQSVVALLS HCPFLDVNQQ DKGGDTALML AAQAGHVPLV 190 200 210 220 230 240 SLLLNYYVGL DLERRDQRGL TALMKAAMRN RCADLTAVDP VRGKTALEWA VLTDSFDTVW 250 260 270 280 290 300 RIRQLLRRPQ VEQLSQHYKP EWPALSGLVA QAQAQAQVAP SLLERLQATL SLPFAPSPQE 310 320 330 340 350 360 GGVLDHLVTA TTSLASPFVT TACHTLCPDH PPSLGTRSKS VPELLGTAPP PPLVPQSPPG 370 380 390 400 410 420 SPQRSPWVFV PYQSPQGILS KCLQWLQPRD STSPRPQVPK ILLSKASSSS HQCQPKPSPS 430 440 450 GHQSLALPLW RYQELRIEKR KQEEEARMAQ K

References

	« Hide 'large scale' referencesShow 'large scale' 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] (ISOFORM 2), VARIANTS PHE-5 AND ARG-132. Tissue: Placenta.
[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 1). Tissue: Retina.
[3]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed: 16541075] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"Retina-abundant C12orf7 gene." Schulz H.L., Stoehr H.B., Weber B.H.F. Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-221 (ISOFORM 1).

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK125517 mRNA. Translation: BAC86190.1. BX537908 mRNA. Translation: CAD97893.1. BX640656 mRNA. Translation: CAE45798.1. AC025259 Genomic DNA. No translation available. AF517112 mRNA. Translation: AAQ07991.1. Different initiation. AF517113 mRNA. Translation: AAQ07992.1. Different initiation. AF517114 mRNA. Translation: AAQ07993.1. AF517115 mRNA. Translation: AAQ07994.1. AF517118 mRNA. Translation: AAQ07996.1.
IPI	IPI00414254. IPI00760822.
RefSeq	NP_872414.3.
UniGene	Hs.433492
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q7Z3H0.
Genome annotation databases
Ensembl	ENST00000340970; ENSP00000344690; ENSG00000167612; Homo sapiens. [Genome view]
GeneID	341405.
UCSC	uc001rzd.1. human.
Organism-specific databases
CTD	341405.
GeneCards	GC12P050569.
HGNC	HGNC:13788. ANKRD33.
PharmGKB	PA25508.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q7Z3H0.
Gene expression databases
ArrayExpress	Q7Z3H0.
Bgee	Q7Z3H0.
CleanEx	HS_ANKRD33.
Genevestigator	Q7Z3H0.
GermOnline	ENSG00000167612. Homo sapiens.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF00023. Ank. 3 hits. [Graphical view]
SMART	SM00248. ANK. 3 hits. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 2 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	98140.

Entry information

Entry name

ANR33_HUMAN

Accession

Primary (citable) accession number: Q7Z3H0
Secondary accession number(s): Q5K619 , Q5K621, Q5K622, Q5K623, Q5K624, Q6ZUN0

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
Last sequence update:	June 27, 2006
Last modified:	November 24, 2009
This is version 41 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.