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Protein

Ankyrin repeat domain-containing protein 30A

Gene

ANKRD30A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Caution

It is uncertain whether Met-1 or Met-57 is the initiator.Curated

GO - Molecular functioni

  • DNA binding Source: UniProtKB
  • DNA binding transcription factor activity Source: UniProtKB

GO - Biological processi

  • regulation of transcription, DNA-templated Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat domain-containing protein 30A
Alternative name(s):
Serologically defined breast cancer antigen NY-BR-1
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000148513.17
HGNCiHGNC:17234 ANKRD30A
MIMi610856 gene
neXtProtiNX_Q9BXX3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

DisGeNETi91074
OpenTargetsiENSG00000148513
PharmGKBiPA134974407

Polymorphism and mutation databases

BioMutaiANKRD30A
DMDMi182676432

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002439051 – 1397Ankyrin repeat domain-containing protein 30AAdd BLAST1397

Proteomic databases

EPDiQ9BXX3
MaxQBiQ9BXX3
PaxDbiQ9BXX3
PeptideAtlasiQ9BXX3
PRIDEiQ9BXX3
ProteomicsDBi79538

PTM databases

iPTMnetiQ9BXX3
PhosphoSitePlusiQ9BXX3

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

BgeeiENSG00000148513
CleanExiHS_ANKRD30A
ExpressionAtlasiQ9BXX3 baseline and differential
GenevisibleiQ9BXX3 HS

Organism-specific databases

HPAiHPA071849

Interactioni

Protein-protein interaction databases

BioGridi124793, 1 interactor
STRINGi9606.ENSP00000354432

Structurei

3D structure databases

ProteinModelPortaliQ9BXX3
SMRiQ9BXX3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati72 – 101ANK 1Add BLAST30
Repeati105 – 134ANK 2Add BLAST30
Repeati138 – 167ANK 3Add BLAST30
Repeati171 – 200ANK 4Add BLAST30
Repeati204 – 233ANK 5Add BLAST30
Repeati237 – 271ANK 6Add BLAST35

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili998 – 1188Sequence analysisAdd BLAST191
Coiled coili1282 – 1327Sequence analysisAdd BLAST46

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00560000076605
HOGENOMiHOG000139942
HOVERGENiHBG059364
InParanoidiQ9BXX3
PhylomeDBiQ9BXX3
TreeFamiTF333496

Family and domain databases

CDDicd00204 ANK, 2 hits
Gene3Di1.25.40.20, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
PfamiView protein in Pfam
PF00023 Ank, 1 hit
PF12796 Ank_2, 2 hits
SMARTiView protein in SMART
SM00248 ANK, 6 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 4 hits

Sequencei

Sequence statusi: Complete.

Q9BXX3-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:1,397
Mass (Da):158,835
Last modified:April 8, 2008 - v3
Checksum:i8E92FD72E449BBE9
GO

Sequence cautioni

The sequence AAK27325 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH71320 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI16567 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti141T → M in AAK27325 (PubMed:11280766).Curated1
Sequence conflicti665L → W in AAK27325 (PubMed:11280766).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035611227Q → E in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_033504611T → A. Corresponds to variant dbSNP:rs16937417Ensembl.1
Natural variantiVAR_033505917K → N. Corresponds to variant dbSNP:rs1209750Ensembl.1
Natural variantiVAR_055515985R → C. Corresponds to variant dbSNP:rs1200875Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
RefSeqiNP_443723.2, NM_052997.2
UniGeneiHs.373787

Genome annotation databases

EnsembliENST00000611781; ENSP00000477963; ENSG00000148513
GeneIDi91074
KEGGihsa:91074
UCSCiuc001iza.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAN30A_HUMAN
AccessioniPrimary (citable) accession number: Q9BXX3
Secondary accession number(s): Q5W025
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: April 8, 2008
Last modified: July 18, 2018
This is version 116 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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