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Protein

Ankyrin repeat domain-containing protein 30A

Gene

ANKRD30A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  • DNA binding Source: UniProtKB
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  • regulation of transcription, DNA-templated Source: UniProtKB
Complete GO annotation...

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

HGNCiHGNC:17234. ANKRD30A.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134974407.

Polymorphism and mutation databases

BioMutaiANKRD30A.
DMDMi182676432.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13971397Ankyrin repeat domain-containing protein 30APRO_0000243905Add
BLAST

Proteomic databases

EPDiQ9BXX3.
PaxDbiQ9BXX3.
PeptideAtlasiQ9BXX3.
PRIDEiQ9BXX3.

PTM databases

iPTMnetiQ9BXX3.
PhosphoSiteiQ9BXX3.

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

HPAiCAB017771.
HPA011981.

Interactioni

Protein-protein interaction databases

BioGridi124793. 1 interaction.
STRINGi9606.ENSP00000354432.

Structurei

3D structure databases

ProteinModelPortaliQ9BXX3.
SMRiQ9BXX3. Positions 40-307.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati72 – 10130ANK 1Add
BLAST
Repeati105 – 13430ANK 2Add
BLAST
Repeati138 – 16730ANK 3Add
BLAST
Repeati171 – 20030ANK 4Add
BLAST
Repeati204 – 23330ANK 5Add
BLAST
Repeati237 – 27135ANK 6Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili998 – 1188191Sequence analysisAdd
BLAST
Coiled coili1282 – 132746Sequence analysisAdd
BLAST

Sequence similaritiesi

Contains 6 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00560000076605.
HOGENOMiHOG000139942.
HOVERGENiHBG059364.
InParanoidiQ9BXX3.
PhylomeDBiQ9BXX3.
TreeFamiTF333496.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 2 hits.
[Graphical view]
SMARTiSM00248. ANK. 6 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 4 hits.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti141 – 1411T → M in AAK27325 (PubMed:11280766).Curated
Sequence conflicti665 – 6651L → W in AAK27325 (PubMed:11280766).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti227 – 2271Q → E in a breast cancer sample; somatic mutation. 1 Publication
VAR_035611
Natural varianti611 – 6111T → A.
Corresponds to variant rs16937417 [ dbSNP | Ensembl ].
VAR_033504
Natural varianti917 – 9171K → N.
Corresponds to variant rs1209750 [ dbSNP | Ensembl ].
VAR_033505
Natural varianti985 – 9851R → C.
Corresponds to variant rs1200875 [ dbSNP | Ensembl ].
VAR_055515

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9BXX3.
SMRiQ9BXX3. Positions 40-307.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124793. 1 interaction.
STRINGi9606.ENSP00000354432.

PTM databases

iPTMnetiQ9BXX3.
PhosphoSiteiQ9BXX3.

Polymorphism and mutation databases

BioMutaiANKRD30A.
DMDMi182676432.

Proteomic databases

EPDiQ9BXX3.
PaxDbiQ9BXX3.
PeptideAtlasiQ9BXX3.
PRIDEiQ9BXX3.

Protocols and materials databases

DNASUi91074.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi91074.
GeneCardsiANKRD30A.
H-InvDBHIX0020535.
HIX0035333.
HGNCiHGNC:17234. ANKRD30A.
HPAiCAB017771.
HPA011981.
MIMi610856. gene.
neXtProtiNX_Q9BXX3.
PharmGKBiPA134974407.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00560000076605.
HOGENOMiHOG000139942.
HOVERGENiHBG059364.
InParanoidiQ9BXX3.
PhylomeDBiQ9BXX3.
TreeFamiTF333496.

Miscellaneous databases

ChiTaRSiANKRD30A. human.
GenomeRNAii91074.
PROiQ9BXX3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148513.
CleanExiHS_ANKRD30A.
ExpressionAtlasiQ9BXX3. baseline and differential.
GenevisibleiQ9BXX3. HS.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 2 hits.
[Graphical view]
SMARTiSM00248. ANK. 6 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAN30A_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 106 of the entry and version 3 of the sequence. [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

Caution

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

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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.