Q8N6D5 (ANR29_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ankyrin repeat domain-containing protein 29

Gene names

Name:

ANKRD29

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	301 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 8 ANK repeats.

Ontologies

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

Alternative products

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

Isoform 1 (identifier: Q8N6D5-1)

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: Q8N6D5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.
     78-110: Missing.
     176-214: QDGTAPLWIA...DAARNDGTTA → TGQRPCGSRP...LRGTMAQQHY
     215-301: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q8N6D5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     242-274: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 301	301	Ankyrin repeat domain-containing protein 29		PRO_0000243903
Regions
	Repeat	11 – 41	31	ANK 1
	Repeat	45 – 74	30	ANK 2
	Repeat	78 – 107	30	ANK 3
	Repeat	111 – 140	30	ANK 4
	Repeat	144 – 173	30	ANK 5
	Repeat	177 – 206	30	ANK 6
	Repeat	210 – 239	30	ANK 7
	Repeat	242 – 271	30	ANK 8
Natural variations
	Alternative sequence	1 – 50	50	Missing in isoform 2.		VSP_019484
	Alternative sequence	78 – 110	33	Missing in isoform 2.		VSP_019485
	Alternative sequence	176 – 214	39	QDGTA…DGTTA → TGQRPCGSRPRWATARWCGC CCCAEPTATLRGTMAQQHY in isoform 2.		VSP_019486
	Alternative sequence	215 – 301	87	Missing in isoform 2.		VSP_019487
	Alternative sequence	242 – 274	33	Missing in isoform 3.		VSP_019488
	Natural variant	95	1	V → M in a breast cancer sample; somatic mutation. Ref.4		VAR_035610
	Natural variant	112	1	G → E. Ref.3 Corresponds to variant rs17855552 [ dbSNP | Ensembl ].		VAR_026869

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 27, 2006. Version 2. Checksum: 26B553175F6E2ED1	FASTA	301	32,442
	10 20 30 40 50 60 MCRMSFKKET PLANAAFWAA RRGNLALLKL LLNSGRVDVD CRDSHGTTLL MVAAYAGHID 70 80 90 100 110 120 CVRELVLQGA DINLQRESGT TALFFAAQQG HNDVVRFLFG FGASTEFRTK DGGTALLAAS 130 140 150 160 170 180 QYGHMQVVET LLKHGANIHD QLYDGATALF LAAQGGYLDV IRLLLASGAK VNQPRQDGTA 190 200 210 220 230 240 PLWIASQMGH SEVVRVMLLR GADRDAARND GTTALLKAAN KGYNDVIKEL LKFSPTLGIL 250 260 270 280 290 300 KNGTSALHAA VLSGNIKTVA LLLEAGADPS LRNKANELPA ELTKNERILR LLRSKEGPRK S
	Isoform 2 [UniParc]. Checksum: FF5B3110DD406884	FASTA	131	14,099
	10 20 30 40 50 60 MVAAYAGHID CVRELVLQGA DINLQREDGG TALLAASQYG HMQVVETLLK HGANIHDQLY 70 80 90 100 110 120 DGATALFLAA QGGYLDVIRL LLASGAKVNQ PRTGQRPCGS RPRWATARWC GCCCCAEPTA 130 TLRGTMAQQH Y
	Isoform 3 [UniParc]. Checksum: 5CBF876C344CF3F6	FASTA	268	29,158
	10 20 30 40 50 60 MCRMSFKKET PLANAAFWAA RRGNLALLKL LLNSGRVDVD CRDSHGTTLL MVAAYAGHID 70 80 90 100 110 120 CVRELVLQGA DINLQRESGT TALFFAAQQG HNDVVRFLFG FGASTEFRTK DGGTALLAAS 130 140 150 160 170 180 QYGHMQVVET LLKHGANIHD QLYDGATALF LAAQGGYLDV IRLLLASGAK VNQPRQDGTA 190 200 210 220 230 240 PLWIASQMGH SEVVRVMLLR GADRDAARND GTTALLKAAN KGYNDVIKEL LKFSPTLGIL 250 260 KANELPAELT KNERILRLLR SKEGPRKS

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 3). Tissue: Brain and Cerebellum.
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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 1), VARIANT GLU-112. Tissue: Brain.
[4]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-95.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK057782 mRNA. Translation: BAB71569.1. AK123197 mRNA. Translation: BAC85555.1. AK313667 mRNA. Translation: BAG36419.1. CH471088 Genomic DNA. Translation: EAX01160.1. BC030622 mRNA. Translation: AAH30622.1.
IPI	IPI00166991. IPI00176931. IPI00760587.
RefSeq	NP_775776.2. NM_173505.2.
UniGene	Hs.374774.
3D structure databases
ProteinModelPortal	Q8N6D5.
SMR	Q8N6D5. Positions 8-298.
ModBase	Search...
Polymorphism databases
DMDM	109940219.
Proteomic databases
PRIDE	Q8N6D5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000322980; ENSP00000323387; ENSG00000154065.
GeneID	147463.
KEGG	hsa:147463.
NMPDR	fig|9606.3.peg.14866.
UCSC	uc002kun.1. human. uc002kuo.1. human.
Organism-specific databases
CTD	147463.
GeneCards	GC18M021178.
H-InvDB	HIX0014366.
HGNC	HGNC:27110. ANKRD29.
neXtProt	NX_Q8N6D5.
PharmGKB	PA134948058.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10702.
GeneTree	ENSGT00600000084024.
HOGENOM	HBG564591.
HOVERGEN	HBG080846.
OrthoDB	EOG4PC9SQ.
PhylomeDB	Q8N6D5.
Gene expression databases
ArrayExpress	Q8N6D5.
Bgee	Q8N6D5.
CleanEx	HS_ANKRD29.
Genevestigator	Q8N6D5.
GermOnline	ENSG00000154065. Homo sapiens.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 3 hits.
Pfam	PF00023. Ank. 2 hits. PF12796. Ank_2. 2 hits. [Graphical view]
PRINTS	PR01415. ANKYRIN.
SMART	SM00248. ANK. 8 hits. [Graphical view]
SUPFAM	SSF48403. ANK. 2 hits.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 6 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	85616.

Entry information

Entry name

ANR29_HUMAN

Accession

Primary (citable) accession number: Q8N6D5
Secondary accession number(s): B2R972, Q6ZWE8, Q96LU9

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
Last sequence update:	June 27, 2006
Last modified:	January 25, 2012
This is version 69 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.