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Protein

Ankyrin repeat domain-containing protein 30B

Gene

ANKRD30B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-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

HGNCiHGNC:24165. ANKRD30B.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134980028.

Polymorphism and mutation databases

BioMutaiANKRD30B.
DMDMi380865477.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13921392Ankyrin repeat domain-containing protein 30BPRO_0000416039Add
BLAST

Proteomic databases

EPDiQ9BXX2.
PaxDbiQ9BXX2.
PRIDEiQ9BXX2.
TopDownProteomicsiQ9BXX2-2. [Q9BXX2-2]

PTM databases

iPTMnetiQ9BXX2.
PhosphoSiteiQ9BXX2.

Expressioni

Tissue specificityi

Expressed in brain, breast and testis.1 Publication

Gene expression databases

BgeeiQ9BXX2.
CleanExiHS_ANKRD30B.
GenevisibleiQ9BXX2. HS.

Organism-specific databases

HPAiHPA060455.

Interactioni

Protein-protein interaction databases

BioGridi131923. 1 interaction.
STRINGi9606.ENSP00000351875.

Structurei

3D structure databases

ProteinModelPortaliQ9BXX2.
SMRiQ9BXX2. Positions 3-317.
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

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili960 – 1168209Sequence analysisAdd
BLAST
Coiled coili1270 – 131849Sequence analysisAdd
BLAST

Sequence similaritiesi

Contains 5 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00560000076605.
HOGENOMiHOG000139942.
HOVERGENiHBG059364.
InParanoidiQ9BXX2.
OMAiEDEEYSW.
OrthoDBiEOG7FBRHS.
PhylomeDBiQ9BXX2.
TreeFamiTF333496.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamiPF12796. 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]

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 AAK27326.1 differs from that shown. Reason: Frameshift at position 120. Curated
The sequence AAK27326.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG57852.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti248 – 2481C → R in AAK27326 (PubMed:11280766).Curated
Sequence conflicti965 – 9651D → G in BAG57852 (PubMed:14702039).Curated
Sequence conflicti977 – 9771T → M in AAK27326 (PubMed:11280766).Curated
Sequence conflicti977 – 9771T → M in BAG57852 (PubMed:14702039).Curated
Sequence conflicti1015 – 10151T → P in AAK27326 (PubMed:11280766).Curated
Sequence conflicti1047 – 10471Q → H in AAK27326 (PubMed:11280766).Curated
Sequence conflicti1345 – 13451N → K in BAG57852 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti375 – 3751V → M.
Corresponds to variant rs9748611 [ dbSNP | Ensembl ].
VAR_042540
Natural varianti477 – 4771F → L.
Corresponds to variant rs9675365 [ dbSNP | Ensembl ].
VAR_042541

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei609 – 61911ESPVKDGLLKP → AYLWKESFSSK in isoform 2. 1 PublicationVSP_032812Add
BLAST
Alternative sequencei620 – 1392773Missing in isoform 2. 1 PublicationVSP_032813Add
BLAST

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

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. Positions 3-317.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131923. 1 interaction.
STRINGi9606.ENSP00000351875.

PTM databases

iPTMnetiQ9BXX2.
PhosphoSiteiQ9BXX2.

Polymorphism and mutation databases

BioMutaiANKRD30B.
DMDMi380865477.

Proteomic databases

EPDiQ9BXX2.
PaxDbiQ9BXX2.
PRIDEiQ9BXX2.
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.
GeneCardsiANKRD30B.
H-InvDBHIX0035126.
HIX0175119.
HGNCiHGNC:24165. ANKRD30B.
HPAiHPA060455.
MIMi616565. gene.
neXtProtiNX_Q9BXX2.
PharmGKBiPA134980028.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00560000076605.
HOGENOMiHOG000139942.
HOVERGENiHBG059364.
InParanoidiQ9BXX2.
OMAiEDEEYSW.
OrthoDBiEOG7FBRHS.
PhylomeDBiQ9BXX2.
TreeFamiTF333496.

Miscellaneous databases

GenomeRNAii374860.
PROiQ9BXX2.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BXX2.
CleanExiHS_ANKRD30B.
GenevisibleiQ9BXX2. HS.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamiPF12796. 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...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  3. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1249 (ISOFORM 1), TISSUE SPECIFICITY.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 831-1392 (ISOFORM 1).
    Tissue: Brain.

Entry informationi

Entry nameiAN30B_HUMAN
AccessioniPrimary (citable) accession number: Q9BXX2
Secondary accession number(s): B4DGP1, F8WAG3, Q4G175
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: March 21, 2012
Last modified: June 8, 2016
This is version 96 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: 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.