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Protein

Ankyrin repeat domain-containing protein 30B

Gene

ANKRD30B

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

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat domain-containing protein 30B
Alternative name(s):
Serologically defined breast cancer antigen NY-BR-1.11 Publication
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000180777.13
HGNCiHGNC:24165 ANKRD30B
MIMi616565 gene
neXtProtiNX_Q9BXX2

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000180777
PharmGKBiPA134980028

Polymorphism and mutation databases

BioMutaiANKRD30B
DMDMi380865477

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00004160391 – 1392Ankyrin repeat domain-containing protein 30BAdd BLAST1392

Proteomic databases

EPDiQ9BXX2
PaxDbiQ9BXX2
PeptideAtlasiQ9BXX2
PRIDEiQ9BXX2
ProteomicsDBi79536
79537 [Q9BXX2-2]
TopDownProteomicsiQ9BXX2-2 [Q9BXX2-2]

PTM databases

iPTMnetiQ9BXX2
PhosphoSitePlusiQ9BXX2

Expressioni

Tissue specificityi

Expressed in brain, breast and testis.1 Publication

Gene expression databases

BgeeiENSG00000180777 Expressed in 68 organ(s), highest expression level in buccal mucosa cell
CleanExiHS_ANKRD30B
GenevisibleiQ9BXX2 HS

Organism-specific databases

HPAiHPA060455
HPA071849

Interactioni

Protein-protein interaction databases

BioGridi131923, 1 interactor
IntActiQ9BXX2, 1 interactor
MINTiQ9BXX2
STRINGi9606.ENSP00000351875

Structurei

3D structure databases

ProteinModelPortaliQ9BXX2
SMRiQ9BXX2
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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili960 – 1168Sequence analysisAdd BLAST209
Coiled coili1270 – 1318Sequence analysisAdd BLAST49

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00560000076605
HOGENOMiHOG000139942
HOVERGENiHBG059364
InParanoidiQ9BXX2
OMAiEREACAN
OrthoDBiEOG091G077A
PhylomeDBiQ9BXX2
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
IPR039497 CC144C-like_CC_dom
PfamiView protein in Pfam
PF12796 Ank_2, 2 hits
PF14915 CCDC144C, 1 hit
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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9BXX2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKRLLAAAGK GVRGPEPPNP FSERVYTEKD YGTIYFGDLG KIHTAASRGQ
60 70 80 90 100
VQKLEKMTVG KKPVNLNKRD MKKRTALHWA CVNGHAEVVT FLVDRKCQLN
110 120 130 140 150
VLDGEGRTPL MKALQCEREA CANILIDAGA DLNYVDVYGN TALHYAVYSE
160 170 180 190 200
NLLMVATLLS YGAVIEVQNK ASLTPLLLAI QKRSKQTVEF LLTKNANANA
210 220 230 240 250
FNESKCTALM LAICEGSSEI VGMLLQQNVD VFAEDIHGIT AERYAAACGV
260 270 280 290 300
NYIHQQLLEH IRKLPKNPQN TNPEGTSTGT PDEAAPLAER TPDTAESLLE
310 320 330 340 350
KTPDEAARLV EGTSAKIQCL GKATSGKFEQ STEETPRKIL RPTKETSEKF
360 370 380 390 400
SWPAKERSRK ITWEEKETSV KTECVAGVTP NKTEVLEKGT SNMIACPTKE
410 420 430 440 450
TSTKASTNVD VSSVEPIFSL FGTRTIENSQ CTKVEEDFNL ATKIISKSAA
460 470 480 490 500
QNYTCLPDAT YQKDIKTINH KIEDQMFPSE SKREEDEEYS WDSGSLFESS
510 520 530 540 550
AKTQVCIPES MYQKVMEINR EVEELPEKPS AFKPAVEMQK TVPNKAFELK
560 570 580 590 600
NEQTLRAAQM FPSESKQKDD EENSWDSESP CETVSQKDVY LPKATHQKEF
610 620 630 640 650
DTLSGKLEES PVKDGLLKPT CGRKVSLPNK ALELKDRETF KAESPDKDGL
660 670 680 690 700
LKPTCGRKVS LPNKALELKD RETLKAESPD NDGLLKPTCG RKVSLPNKAL
710 720 730 740 750
ELKDRETFKA AQMFPSESKQ KDDEENSWDF ESFLETLLQN DVCLPKATHQ
760 770 780 790 800
KEFDTLSGKL EESPDKDGLL KPTCGMKISL PNKALELKDR ETFKAEDVSS
810 820 830 840 850
VESTFSLFGK PTTENSQSTK VEEDFNLTTK EGATKTVTGQ QERDIGIIER
860 870 880 890 900
APQDQTNKMP TSELGRKEDT KSTSDSEIIS VSDTQNYECL PEATYQKEIK
910 920 930 940 950
TTNGKIEESP EKPSHFEPAT EMQNSVPNKG LEWKNKQTLR ADSTTLSKIL
960 970 980 990 1000
DALPSCERGR ELKKDNCEQI TAKMEQTKNK FCVLQKELSE AKEIKSQLEN
1010 1020 1030 1040 1050
QKAKWEQELC SVRLTLNQEE EKRRNVDILK EKIRPEEQLR KKLEVKQQLE
1060 1070 1080 1090 1100
QTLRIQDIEL KSVTSNLNQV SHTHESENDL FHENCMLKKE IAMLKLEVAT
1110 1120 1130 1140 1150
LKHQHQVKEN KYFEDIKILQ EKNAELQMTL KLKQKTVTKR ASQYREQLKV
1160 1170 1180 1190 1200
LTAENTMLTS KLKEKQDKEI LETEIESHHP RLASALQDHD QSVTSRKNQE
1210 1220 1230 1240 1250
LAFHSAGDAP LQGIMNVDVS NTIYNNEVLH QPLYEAQRKS KSPKINLNYA
1260 1270 1280 1290 1300
GDDLRENALV SEHAQRDRCE TQCQMKKAEH MYQNEQDNVD KHTEQQESLE
1310 1320 1330 1340 1350
QKLFQLESKN RWLRQQLVYA HKKVNKSKVT INIQFPEMKM QRHLNEKNEE
1360 1370 1380 1390
VFNYGNHLKE RIDQYEKEKA EREVSIKKYK YFSNFLKESG LG
Length:1,392
Mass (Da):158,049
Last modified:March 21, 2012 - v3
Checksum:iA8E54B496F3C1C5E
GO
Isoform 2 (identifier: Q9BXX2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     609-619: ESPVKDGLLKP → AYLWKESFSSK
     620-1392: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:619
Mass (Da):68,926
Checksum:i8D167CE0CEEE8A71
GO

Sequence cautioni

The sequence AAK27326 differs from that shown. Reason: Frameshift at position 120.Curated
The sequence AAK27326 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG57852 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti248C → R in AAK27326 (PubMed:11280766).Curated1
Sequence conflicti965D → G in BAG57852 (PubMed:14702039).Curated1
Sequence conflicti977T → M in AAK27326 (PubMed:11280766).Curated1
Sequence conflicti977T → M in BAG57852 (PubMed:14702039).Curated1
Sequence conflicti1015T → P in AAK27326 (PubMed:11280766).Curated1
Sequence conflicti1047Q → H in AAK27326 (PubMed:11280766).Curated1
Sequence conflicti1345N → K in BAG57852 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_042540375V → M. Corresponds to variant dbSNP:rs9748611Ensembl.1
Natural variantiVAR_042541477F → L. Corresponds to variant dbSNP:rs9675365Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_032812609 – 619ESPVKDGLLKP → AYLWKESFSSK in isoform 2. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_032813620 – 1392Missing in isoform 2. 1 PublicationAdd BLAST773

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP006507 Genomic DNA No translation available.
AP006564 Genomic DNA No translation available.
AP006565 Genomic DNA No translation available.
BC028407 mRNA No translation available.
AF269088 mRNA Translation: AAK27326.1 Sequence problems.
AK294693 mRNA Translation: BAG57852.1 Different initiation.
CCDSiCCDS54182.1 [Q9BXX2-1]
RefSeqiNP_001138501.1, NM_001145029.1 [Q9BXX2-1]
UniGeneiHs.567889

Genome annotation databases

EnsembliENST00000358984; ENSP00000351875; ENSG00000180777 [Q9BXX2-1]
ENST00000580206; ENSP00000463332; ENSG00000180777 [Q9BXX2-2]
GeneIDi374860
KEGGihsa:374860
UCSCiuc060nsr.1 human [Q9BXX2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP006507 Genomic DNA No translation available.
AP006564 Genomic DNA No translation available.
AP006565 Genomic DNA No translation available.
BC028407 mRNA No translation available.
AF269088 mRNA Translation: AAK27326.1 Sequence problems.
AK294693 mRNA Translation: BAG57852.1 Different initiation.
CCDSiCCDS54182.1 [Q9BXX2-1]
RefSeqiNP_001138501.1, NM_001145029.1 [Q9BXX2-1]
UniGeneiHs.567889

3D structure databases

ProteinModelPortaliQ9BXX2
SMRiQ9BXX2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131923, 1 interactor
IntActiQ9BXX2, 1 interactor
MINTiQ9BXX2
STRINGi9606.ENSP00000351875

PTM databases

iPTMnetiQ9BXX2
PhosphoSitePlusiQ9BXX2

Polymorphism and mutation databases

BioMutaiANKRD30B
DMDMi380865477

Proteomic databases

EPDiQ9BXX2
PaxDbiQ9BXX2
PeptideAtlasiQ9BXX2
PRIDEiQ9BXX2
ProteomicsDBi79536
79537 [Q9BXX2-2]
TopDownProteomicsiQ9BXX2-2 [Q9BXX2-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358984; ENSP00000351875; ENSG00000180777 [Q9BXX2-1]
ENST00000580206; ENSP00000463332; ENSG00000180777 [Q9BXX2-2]
GeneIDi374860
KEGGihsa:374860
UCSCiuc060nsr.1 human [Q9BXX2-1]

Organism-specific databases

CTDi374860
EuPathDBiHostDB:ENSG00000180777.13
GeneCardsiANKRD30B
H-InvDBiHIX0035126
HIX0175119
HGNCiHGNC:24165 ANKRD30B
HPAiHPA060455
HPA071849
MIMi616565 gene
neXtProtiNX_Q9BXX2
OpenTargetsiENSG00000180777
PharmGKBiPA134980028
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00560000076605
HOGENOMiHOG000139942
HOVERGENiHBG059364
InParanoidiQ9BXX2
OMAiEREACAN
OrthoDBiEOG091G077A
PhylomeDBiQ9BXX2
TreeFamiTF333496

Miscellaneous databases

ChiTaRSiANKRD30B human
GenomeRNAii374860
PROiPR:Q9BXX2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180777 Expressed in 68 organ(s), highest expression level in buccal mucosa cell
CleanExiHS_ANKRD30B
GenevisibleiQ9BXX2 HS

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
IPR039497 CC144C-like_CC_dom
PfamiView protein in Pfam
PF12796 Ank_2, 2 hits
PF14915 CCDC144C, 1 hit
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
ProtoNetiSearch...

Entry informationi

Entry nameiAN30B_HUMAN
AccessioniPrimary (citable) accession number: Q9BXX2
Secondary accession number(s): B4DGP1, F8WAG3, Q4G175
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: March 21, 2012
Last modified: November 7, 2018
This is version 111 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
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