UniProtKB - Q9BXX3 (AN30A_HUMAN)
Protein
Ankyrin repeat domain-containing protein 30A
Gene
ANKRD30A
Organism
Homo sapiens (Human)
Status
Functioni
Caution
It is uncertain whether Met-1 or Met-57 is the initiator.Curated
Enzyme and pathway databases
PathwayCommonsi | Q9BXX3 |
Names & Taxonomyi
Protein namesi | Recommended name: Ankyrin repeat domain-containing protein 30AAlternative name(s): Serologically defined breast cancer antigen NY-BR-1 |
Gene namesi | Name:ANKRD30A |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000148513.17 |
HGNCi | HGNC:17234, ANKRD30A |
MIMi | 610856, gene |
neXtProti | NX_Q9BXX3 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 91074 |
OpenTargetsi | ENSG00000148513 |
PharmGKBi | PA134974407 |
Miscellaneous databases
Pharosi | Q9BXX3, Tbio |
Polymorphism and mutation databases
BioMutai | ANKRD30A |
DMDMi | 182676432 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000243905 | 1 – 1397 | Ankyrin repeat domain-containing protein 30AAdd BLAST | 1397 |
Proteomic databases
EPDi | Q9BXX3 |
MassIVEi | Q9BXX3 |
MaxQBi | Q9BXX3 |
PaxDbi | Q9BXX3 |
PeptideAtlasi | Q9BXX3 |
PRIDEi | Q9BXX3 |
ProteomicsDBi | 79538 |
PTM databases
iPTMneti | Q9BXX3 |
PhosphoSitePlusi | Q9BXX3 |
Expressioni
Tissue specificityi
Mainly expressed in breast and testis. A very faint signal is detected in placenta. Also expressed in many breast cancer cells.1 Publication
Gene expression databases
Bgeei | ENSG00000148513, Expressed in epithelium of mammary gland and 54 other tissues |
ExpressionAtlasi | Q9BXX3, baseline and differential |
Genevisiblei | Q9BXX3, HS |
Organism-specific databases
HPAi | ENSG00000148513, Group enriched (breast, testis) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 124793, 1 interactor |
STRINGi | 9606.ENSP00000354432 |
Miscellaneous databases
RNActi | Q9BXX3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 72 – 101 | ANK 1Add BLAST | 30 | |
Repeati | 105 – 134 | ANK 2Add BLAST | 30 | |
Repeati | 138 – 167 | ANK 3Add BLAST | 30 | |
Repeati | 171 – 200 | ANK 4Add BLAST | 30 | |
Repeati | 204 – 233 | ANK 5Add BLAST | 30 | |
Repeati | 237 – 271 | ANK 6Add BLAST | 35 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 998 – 1188 | Sequence analysisAdd BLAST | 191 | |
Coiled coili | 1282 – 1327 | Sequence analysisAdd BLAST | 46 |
Keywords - Domaini
ANK repeat, Coiled coil, RepeatPhylogenomic databases
eggNOGi | KOG0504, Eukaryota |
GeneTreei | ENSGT00940000165686 |
InParanoidi | Q9BXX3 |
OrthoDBi | 305292at2759 |
PhylomeDBi | Q9BXX3 |
TreeFami | TF333496 |
Family and domain databases
Gene3Di | 1.25.40.20, 2 hits |
InterProi | View protein in InterPro IPR002110, Ankyrin_rpt IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf IPR039497, CC144C-like_CC_dom |
Pfami | View protein in Pfam PF00023, Ank, 1 hit PF12796, Ank_2, 2 hits PF14915, CCDC144C, 1 hit |
SMARTi | View protein in SMART SM00248, ANK, 6 hits |
SUPFAMi | SSF48403, SSF48403, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 4 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q9BXX3-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MEEISAAAVK VVPGPERPSP FSQLVYTSND SYIVHSGDLR KIHKAASRGQ
60 70 80 90 100
VRKLEKMTKR KKTINLNIQD AQKRTALHWA CVNGHEEVVT FLVDRKCQLD
110 120 130 140 150
VLDGEHRTPL MKALQCHQEA CANILIDSGA DINLVDVYGN TALHYAVYSE
160 170 180 190 200
ILSVVAKLLS HGAVIEVHNK ASLTPLLLSI TKRSEQIVEF LLIKNANANA
210 220 230 240 250
VNKYKCTALM LAVCHGSSEI VGMLLQQNVD VFAADICGVT AEHYAVTCGF
260 270 280 290 300
HHIHEQIMEY IRKLSKNHQN TNPEGTSAGT PDEAAPLAER TPDTAESLVE
310 320 330 340 350
KTPDEAAPLV ERTPDTAESL VEKTPDEAAS LVEGTSDKIQ CLEKATSGKF
360 370 380 390 400
EQSAEETPRE ITSPAKETSE KFTWPAKGRP RKIAWEKKED TPREIMSPAK
410 420 430 440 450
ETSEKFTWAA KGRPRKIAWE KKETPVKTGC VARVTSNKTK VLEKGRSKMI
460 470 480 490 500
ACPTKESSTK ASANDQRFPS ESKQEEDEEY SCDSRSLFES SAKIQVCIPE
510 520 530 540 550
SIYQKVMEIN REVEEPPKKP SAFKPAIEMQ NSVPNKAFEL KNEQTLRADP
560 570 580 590 600
MFPPESKQKD YEENSWDSES LCETVSQKDV CLPKATHQKE IDKINGKLEE
610 620 630 640 650
SPNKDGLLKA TCGMKVSIPT KALELKDMQT FKAEPPGKPS AFEPATEMQK
660 670 680 690 700
SVPNKALELK NEQTLRADEI LPSESKQKDY EENSWDTESL CETVSQKDVC
710 720 730 740 750
LPKAAHQKEI DKINGKLEGS PVKDGLLKAN CGMKVSIPTK ALELMDMQTF
760 770 780 790 800
KAEPPEKPSA FEPAIEMQKS VPNKALELKN EQTLRADEIL PSESKQKDYE
810 820 830 840 850
ESSWDSESLC ETVSQKDVCL PKATHQKEID KINGKLEESP DNDGFLKAPC
860 870 880 890 900
RMKVSIPTKA LELMDMQTFK AEPPEKPSAF EPAIEMQKSV PNKALELKNE
910 920 930 940 950
QTLRADQMFP SESKQKKVEE NSWDSESLRE TVSQKDVCVP KATHQKEMDK
960 970 980 990 1000
ISGKLEDSTS LSKILDTVHS CERARELQKD HCEQRTGKME QMKKKFCVLK
1010 1020 1030 1040 1050
KKLSEAKEIK SQLENQKVKW EQELCSVRLT LNQEEEKRRN ADILNEKIRE
1060 1070 1080 1090 1100
ELGRIEEQHR KELEVKQQLE QALRIQDIEL KSVESNLNQV SHTHENENYL
1110 1120 1130 1140 1150
LHENCMLKKE IAMLKLEIAT LKHQYQEKEN KYFEDIKILK EKNAELQMTL
1160 1170 1180 1190 1200
KLKEESLTKR ASQYSGQLKV LIAENTMLTS KLKEKQDKEI LEAEIESHHP
1210 1220 1230 1240 1250
RLASAVQDHD QIVTSRKSQE PAFHIAGDAC LQRKMNVDVS STIYNNEVLH
1260 1270 1280 1290 1300
QPLSEAQRKS KSLKINLNYA GDALRENTLV SEHAQRDQRE TQCQMKEAEH
1310 1320 1330 1340 1350
MYQNEQDNVN KHTEQQESLD QKLFQLQSKN MWLQQQLVHA HKKADNKSKI
1360 1370 1380 1390
TIDIHFLERK MQHHLLKEKN EEIFNYNNHL KNRIYQYEKE KAETENS
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5W026 | Q5W026_HUMAN | Ankyrin repeat domain-containing pr... | ANKRD30A | 1,516 | Annotation score: | ||
R4GNA2 | R4GNA2_HUMAN | Ankyrin repeat domain-containing pr... | ANKRD30A | 1,341 | Annotation score: |
Sequence cautioni
The sequence AAK27325 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 141 | T → M in AAK27325 (PubMed:11280766).Curated | 1 | |
Sequence conflicti | 665 | L → W in AAK27325 (PubMed:11280766).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035611 | 227 | Q → E in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_033504 | 611 | T → A. Corresponds to variant dbSNP:rs16937417Ensembl. | 1 | |
Natural variantiVAR_033505 | 917 | K → N. Corresponds to variant dbSNP:rs1209750Ensembl. | 1 | |
Natural variantiVAR_055515 | 985 | R → C. Corresponds to variant dbSNP:rs1200875Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC067744 Genomic DNA No translation available. AL157387 Genomic DNA No translation available. AL357148 Genomic DNA No translation available. AF269087 mRNA Translation: AAK27325.1 Different initiation. |
RefSeqi | NP_443723.2, NM_052997.2 |
Genome annotation databases
Ensembli | ENST00000602533; ENSP00000473551; ENSG00000148513 ENST00000611781; ENSP00000477963; ENSG00000148513 |
GeneIDi | 91074 |
KEGGi | hsa:91074 |
UCSCi | uc001iza.2, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC067744 Genomic DNA No translation available. AL157387 Genomic DNA No translation available. AL357148 Genomic DNA No translation available. AF269087 mRNA Translation: AAK27325.1 Different initiation. |
RefSeqi | NP_443723.2, NM_052997.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6R2L | X-ray | 2.30 | C | 960-968 | [»] | |
SMRi | Q9BXX3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 124793, 1 interactor |
STRINGi | 9606.ENSP00000354432 |
PTM databases
iPTMneti | Q9BXX3 |
PhosphoSitePlusi | Q9BXX3 |
Polymorphism and mutation databases
BioMutai | ANKRD30A |
DMDMi | 182676432 |
Proteomic databases
EPDi | Q9BXX3 |
MassIVEi | Q9BXX3 |
MaxQBi | Q9BXX3 |
PaxDbi | Q9BXX3 |
PeptideAtlasi | Q9BXX3 |
PRIDEi | Q9BXX3 |
ProteomicsDBi | 79538 |
Protocols and materials databases
Antibodypediai | 1797, 57 antibodies |
DNASUi | 91074 |
Genome annotation databases
Ensembli | ENST00000602533; ENSP00000473551; ENSG00000148513 ENST00000611781; ENSP00000477963; ENSG00000148513 |
GeneIDi | 91074 |
KEGGi | hsa:91074 |
UCSCi | uc001iza.2, human |
Organism-specific databases
CTDi | 91074 |
DisGeNETi | 91074 |
EuPathDBi | HostDB:ENSG00000148513.17 |
GeneCardsi | ANKRD30A |
HGNCi | HGNC:17234, ANKRD30A |
HPAi | ENSG00000148513, Group enriched (breast, testis) |
MIMi | 610856, gene |
neXtProti | NX_Q9BXX3 |
OpenTargetsi | ENSG00000148513 |
PharmGKBi | PA134974407 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0504, Eukaryota |
GeneTreei | ENSGT00940000165686 |
InParanoidi | Q9BXX3 |
OrthoDBi | 305292at2759 |
PhylomeDBi | Q9BXX3 |
TreeFami | TF333496 |
Enzyme and pathway databases
PathwayCommonsi | Q9BXX3 |
Miscellaneous databases
BioGRID-ORCSi | 91074, 5 hits in 845 CRISPR screens |
ChiTaRSi | ANKRD30A, human |
GenomeRNAii | 91074 |
Pharosi | Q9BXX3, Tbio |
PROi | PR:Q9BXX3 |
RNActi | Q9BXX3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000148513, Expressed in epithelium of mammary gland and 54 other tissues |
ExpressionAtlasi | Q9BXX3, baseline and differential |
Genevisiblei | Q9BXX3, HS |
Family and domain databases
Gene3Di | 1.25.40.20, 2 hits |
InterProi | View protein in InterPro IPR002110, Ankyrin_rpt IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf IPR039497, CC144C-like_CC_dom |
Pfami | View protein in Pfam PF00023, Ank, 1 hit PF12796, Ank_2, 2 hits PF14915, CCDC144C, 1 hit |
SMARTi | View protein in SMART SM00248, ANK, 6 hits |
SUPFAMi | SSF48403, SSF48403, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 4 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AN30A_HUMAN | |
Accessioni | Q9BXX3Primary (citable) accession number: Q9BXX3 Secondary accession number(s): Q5W025 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 27, 2006 |
Last sequence update: | April 8, 2008 | |
Last modified: | December 2, 2020 | |
This is version 132 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - 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