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Q9BXX3 (AN30A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 70. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ankyrin repeat domain-containing protein 30A
Alternative name(s):
Serologically defined breast cancer antigen NY-BR-1
Gene names
Name:ANKRD30A
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1397 AA.
Sequence statusComplete.
Protein existenceEvidence 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 diversityPolymorphism
   DomainANK repeat
Coiled coil
Repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular componentnucleus

Non-traceable author statement Ref.2. Source: UniProtKB

   Molecular functionDNA 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13971397Ankyrin repeat domain-containing protein 30A
PRO_0000243905

Regions

Repeat72 – 10130ANK 1
Repeat105 – 13430ANK 2
Repeat138 – 16730ANK 3
Repeat171 – 20030ANK 4
Repeat204 – 23330ANK 5
Repeat237 – 27135ANK 6
Coiled coil998 – 1188191 Potential
Coiled coil1282 – 132746 Potential

Natural variations

Natural variant2271Q → E in a breast cancer sample; somatic mutation. Ref.4
VAR_035611
Natural variant6111T → A.
Corresponds to variant rs16937417 [ dbSNP | Ensembl ].
VAR_033504
Natural variant9171K → N.
Corresponds to variant rs1209750 [ dbSNP | Ensembl ].
VAR_033505
Natural variant9851R → C.
Corresponds to variant rs1200875 [ dbSNP | Ensembl ].
VAR_055515

Experimental info

Sequence conflict1411T → M in AAK27325. Ref.2
Sequence conflict6651L → W in AAK27325. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q9BXX3 [UniParc].

Last modified April 8, 2008. Version 3.
Checksum: 8E92FD72E449BBE9

FASTA1,397158,835
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
IPIIPI00043069.
RefSeqNP_443723.2. NM_052997.2.
UniGeneHs.373787.

3D structure databases

ProteinModelPortalQ9BXX3.
SMRQ9BXX3. Positions 40-264.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ9BXX3.

PTM databases

PhosphoSiteQ9BXX3.

Polymorphism databases

DMDM182676432.

Proteomic databases

PRIDEQ9BXX3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361713; ENSP00000354432; ENSG00000148513.
GeneID91074.
KEGGhsa:91074.
UCSCuc001iza.1. human.

Organism-specific databases

CTD91074.
GeneCardsGC10P037454.
H-InvDBHIX0035333.
HGNCHGNC:17234. ANKRD30A.
HPACAB017771.
HPA011981.
MIM610856. gene.
neXtProtNX_Q9BXX3.
PharmGKBPA134974407.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG07659.
GeneTreeENSGT00560000076605.
HOVERGENHBG059364.
OrthoDBEOG4FTVZR.

Gene expression databases

ArrayExpressQ9BXX3.
BgeeQ9BXX3.
CleanExHS_ANKRD30A.
GenevestigatorQ9BXX3.

Family and domain databases

InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
Gene3DG3DSA:1.25.40.20. ANK. 1 hit.
PfamPF00023. Ank. 1 hit.
PF12796. Ank_2. 2 hits.
[Graphical view]
SMARTSM00248. ANK. 6 hits.
[Graphical view]
SUPFAMSSF48403. ANK. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio77094.
SOURCESearch...

Entry information

Entry nameAN30A_HUMAN
AccessionPrimary (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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families