Q9BXX3 (AN30A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ankyrin repeat domain-containing protein 30A

Alternative name(s):
Serologically defined breast cancer antigen NY-BR-1

Gene names

Name:

ANKRD30A

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	1397 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity	Mainly expressed in breast and testis. A very faint signal is detected in placenta. Also expressed in many breast cancer cells. Ref.2
Sequence similarities	Contains 6 ANK repeats.
Caution	It is uncertain whether Met-1 or Met-57 is the initiator.
Sequence caution	The sequence AAK27325.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAH71320.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAI16567.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	ANK repeat Coiled coil Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	nucleus Non-traceable author statement Ref.2. Source: UniProtKB
Molecular function	DNA binding Non-traceable author statement Ref.2. Source: UniProtKB sequence-specific DNA binding transcription factor activity Non-traceable author statement Ref.2. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1397	1397	Ankyrin repeat domain-containing protein 30A		PRO_0000243905
Regions
	Repeat	72 – 101	30	ANK 1
	Repeat	105 – 134	30	ANK 2
	Repeat	138 – 167	30	ANK 3
	Repeat	171 – 200	30	ANK 4
	Repeat	204 – 233	30	ANK 5
	Repeat	237 – 271	35	ANK 6
	Coiled coil	998 – 1188	191	Potential
	Coiled coil	1282 – 1327	46	Potential
Natural variations
	Natural variant	227	1	Q → E in a breast cancer sample; somatic mutation. Ref.4		VAR_035611
	Natural variant	611	1	T → A. Corresponds to variant rs16937417 [ dbSNP | Ensembl ].		VAR_033504
	Natural variant	917	1	K → N. Corresponds to variant rs1209750 [ dbSNP | Ensembl ].		VAR_033505
	Natural variant	985	1	R → C. Corresponds to variant rs1200875 [ dbSNP | Ensembl ].		VAR_055515
Experimental info
	Sequence conflict	141	1	T → M in AAK27325. Ref.2
	Sequence conflict	665	1	L → W in AAK27325. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q9BXX3 [UniParc]. Last modified April 8, 2008. Version 3. Checksum: 8E92FD72E449BBE9	FASTA	1,397	158,835
	10 20 30 40 50 60 MEEISAAAVK VVPGPERPSP FSQLVYTSND SYIVHSGDLR KIHKAASRGQ VRKLEKMTKR 70 80 90 100 110 120 KKTINLNIQD AQKRTALHWA CVNGHEEVVT FLVDRKCQLD VLDGEHRTPL MKALQCHQEA 130 140 150 160 170 180 CANILIDSGA DINLVDVYGN TALHYAVYSE ILSVVAKLLS HGAVIEVHNK ASLTPLLLSI 190 200 210 220 230 240 TKRSEQIVEF LLIKNANANA VNKYKCTALM LAVCHGSSEI VGMLLQQNVD VFAADICGVT 250 260 270 280 290 300 AEHYAVTCGF HHIHEQIMEY IRKLSKNHQN TNPEGTSAGT PDEAAPLAER TPDTAESLVE 310 320 330 340 350 360 KTPDEAAPLV ERTPDTAESL VEKTPDEAAS LVEGTSDKIQ CLEKATSGKF EQSAEETPRE 370 380 390 400 410 420 ITSPAKETSE KFTWPAKGRP RKIAWEKKED TPREIMSPAK ETSEKFTWAA KGRPRKIAWE 430 440 450 460 470 480 KKETPVKTGC VARVTSNKTK VLEKGRSKMI ACPTKESSTK ASANDQRFPS ESKQEEDEEY 490 500 510 520 530 540 SCDSRSLFES SAKIQVCIPE SIYQKVMEIN REVEEPPKKP SAFKPAIEMQ NSVPNKAFEL 550 560 570 580 590 600 KNEQTLRADP MFPPESKQKD YEENSWDSES LCETVSQKDV CLPKATHQKE IDKINGKLEE 610 620 630 640 650 660 SPNKDGLLKA TCGMKVSIPT KALELKDMQT FKAEPPGKPS AFEPATEMQK SVPNKALELK 670 680 690 700 710 720 NEQTLRADEI LPSESKQKDY EENSWDTESL CETVSQKDVC LPKAAHQKEI DKINGKLEGS 730 740 750 760 770 780 PVKDGLLKAN CGMKVSIPTK ALELMDMQTF KAEPPEKPSA FEPAIEMQKS VPNKALELKN 790 800 810 820 830 840 EQTLRADEIL PSESKQKDYE ESSWDSESLC ETVSQKDVCL PKATHQKEID KINGKLEESP 850 860 870 880 890 900 DNDGFLKAPC RMKVSIPTKA LELMDMQTFK AEPPEKPSAF EPAIEMQKSV PNKALELKNE 910 920 930 940 950 960 QTLRADQMFP SESKQKKVEE NSWDSESLRE TVSQKDVCVP KATHQKEMDK ISGKLEDSTS 970 980 990 1000 1010 1020 LSKILDTVHS CERARELQKD HCEQRTGKME QMKKKFCVLK KKLSEAKEIK SQLENQKVKW 1030 1040 1050 1060 1070 1080 EQELCSVRLT LNQEEEKRRN ADILNEKIRE ELGRIEEQHR KELEVKQQLE QALRIQDIEL 1090 1100 1110 1120 1130 1140 KSVESNLNQV SHTHENENYL LHENCMLKKE IAMLKLEIAT LKHQYQEKEN KYFEDIKILK 1150 1160 1170 1180 1190 1200 EKNAELQMTL KLKEESLTKR ASQYSGQLKV LIAENTMLTS KLKEKQDKEI LEAEIESHHP 1210 1220 1230 1240 1250 1260 RLASAVQDHD QIVTSRKSQE PAFHIAGDAC LQRKMNVDVS STIYNNEVLH QPLSEAQRKS 1270 1280 1290 1300 1310 1320 KSLKINLNYA GDALRENTLV SEHAQRDQRE TQCQMKEAEH MYQNEQDNVN KHTEQQESLD 1330 1340 1350 1360 1370 1380 QKLFQLQSKN MWLQQQLVHA HKKADNKSKI TIDIHFLERK MQHHLLKEKN EEIFNYNNHL 1390 KNRIYQYEKE KAETENS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"Identification of a tissue-specific putative transcription factor in breast tissue by serological screening of a breast cancer library." Jaeger D., Stockert E., Guere A.O., Scanlan M.J., Karbach J., Jaeger E., Knuth A., Old L.J., Chen Y.-T. Cancer Res. 61:2055-2061(2001) [PubMed: 11280766] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 24-1397, TISSUE SPECIFICITY.
[3]	"Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains." Hahn Y., Bera T.K., Pastan I.H., Lee B. Gene 366:238-245(2006) [PubMed: 16364570] [Abstract] Cited for: IDENTIFICATION.
[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] GLU-227.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL157387, AC067744, AL357148 Genomic DNA. Translation: CAH71320.1. Different initiation. AL357148, AC067744, AL157387 Genomic DNA. Translation: CAI16567.1. Different initiation. AF269087 mRNA. Translation: AAK27325.1. Different initiation.
IPI	IPI00043069.
RefSeq	NP_443723.2. NM_052997.2.
UniGene	Hs.373787.
3D structure databases
ProteinModelPortal	Q9BXX3.
SMR	Q9BXX3. Positions 40-264.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9BXX3.
PTM databases
PhosphoSite	Q9BXX3.
Polymorphism databases
DMDM	182676432.
Proteomic databases
PRIDE	Q9BXX3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000361713; ENSP00000354432; ENSG00000148513.
GeneID	91074.
KEGG	hsa:91074.
UCSC	uc001iza.1. human.
Organism-specific databases
CTD	91074.
GeneCards	GC10P037454.
H-InvDB	HIX0035333.
HGNC	HGNC:17234. ANKRD30A.
HPA	CAB017771. HPA011981.
MIM	610856. gene.
neXtProt	NX_Q9BXX3.
PharmGKB	PA134974407.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG07659.
GeneTree	ENSGT00560000076605.
HOVERGEN	HBG059364.
OrthoDB	EOG4FTVZR.
Gene expression databases
ArrayExpress	Q9BXX3.
Bgee	Q9BXX3.
CleanEx	HS_ANKRD30A.
Genevestigator	Q9BXX3.
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. 1 hit. PF12796. Ank_2. 2 hits. [Graphical view]
SMART	SM00248. ANK. 6 hits. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 4 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	77094.
SOURCE	Search...

Entry information

Entry name

AN30A_HUMAN

Accession

Primary (citable) accession number: Q9BXX3
Secondary accession number(s): Q5W025

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
Last sequence update:	April 8, 2008
Last modified:	January 25, 2012
This is version 70 of the entry and version 3 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.