Reviewed, UniProtKB/Swiss-Prot Q9BXX2 (AN30B_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat domain-containing protein 30B
Alternative name(s):
    Serologically defined breast cancer antigen NY-BR-1.1

Gene names

Name:

ANKRD30B

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1477 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Tissue specificity	Expressed in brain, breast and testis. Ref.3
Sequence similarities	Contains 5 ANK repeats.
Sequence caution	The sequence AAK27326.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAK27326.1 differs from that shown. Reason: Frameshift at position 120.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	ANK repeat Coiled coil Repeat
Technical term	Complete proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BXX2-1)

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.

Isoform 2 (identifier: Q9BXX2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     609-619: ESPVKDGLLKP → AYLWKESFSSK
     620-1477: 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.

Isoform 3 (identifier: Q9BXX2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     643-727: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1477	1477	Ankyrin repeat domain-containing protein 30B		PRO_0000328838
Regions
	Repeat	72 – 101	30	ANK 1
	Repeat	105 – 134	30	ANK 2
	Repeat	138 – 167	30	ANK 3
	Repeat	171 – 200	30	ANK 4
	Repeat	204 – 233	30	ANK 5
	Coiled coil	1045 – 1253	209	Potential
	Coiled coil	1355 – 1465	111	Potential
Natural variations
	Alternative sequence	609 – 619	11	ESPVKDGLLKP → AYLWKESFSSK in isoform 2.		VSP_032812
	Alternative sequence	620 – 1477	858	Missing in isoform 2.		VSP_032813
	Alternative sequence	643 – 727	85	Missing in isoform 3.		VSP_032814
	Natural variant	375	1	V → M: dbSNP rs9748611.		VAR_042540
	Natural variant	477	1	F → L: dbSNP rs9675365.		VAR_042541
Experimental info
	Sequence conflict	248	1	C → R in AAK27326. Ref.3
	Sequence conflict	438	1	F → L in BC028407. Ref.2
	Sequence conflict	766	1	K → N in AAK27326. Ref.3
	Sequence conflict	775	1	V → G in AAK27326. Ref.3
	Sequence conflict	793	1	L → F in AAK27326. Ref.3
	Sequence conflict	821	1	A → T in AAK27326. Ref.3
	Sequence conflict	827	1	G → V in AAK27326. Ref.3
	Sequence conflict	1062	1	T → M in AAK27326. Ref.3
	Sequence conflict	1100	1	T → P in AAK27326. Ref.3
	Sequence conflict	1132	1	Q → H in AAK27326. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 8, 2008. Version 2. Checksum: BDB4B05304292AEC	FASTA	1,477	167,707
	10 20 30 40 50 60 MKRLLAAAGK GVRGPEPPNP FSERVYTEKD YGTIYFGDLG KIHTAASRGQ VQKLEKMTVG 70 80 90 100 110 120 KKPVNLNKRD MKKRTALHWA CVNGHAEVVT FLVDRKCQLN VLDGEGRTPL MKALQCEREA 130 140 150 160 170 180 CANILIDAGA DLNYVDVYGN TALHYAVYSE NLLMVATLLS YGAVIEVQNK ASLTPLLLAI 190 200 210 220 230 240 QKRSKQTVEF LLTKNANANA FNESKCTALM LAICEGSSEI VGMLLQQNVD VFAEDIHGIT 250 260 270 280 290 300 AERYAAACGV NYIHQQLLEH IRKLPKNPQN TNPEGTSTGT PDEAAPLAER TPDTAESLLE 310 320 330 340 350 360 KTPDEAARLV EGTSAKIQCL GKATSGKFEQ STEETPRKIL RPTKETSEKF SWPAKERSRK 370 380 390 400 410 420 ITWEEKETSV KTECVAGVTP NKTEVLEKGT SNMIACPTKE TSTKASTNVD VSSVEPIFSL 430 440 450 460 470 480 FGTRTIENSQ CTKVEEDFNL ATKIISKSAA QNYTCLPDAT YQKDIKTINH KIEDQMFPSE 490 500 510 520 530 540 SKREEDEEYS WDSGSLFESS AKTQVCIPES MYQKVMEINR EVEELPEKPS AFKPAVEMQK 550 560 570 580 590 600 TVPNKAFELK NEQTLRAAQM FPSESKQKDD EENSWDSESP CETVSQKDVY LPKATHQKEF 610 620 630 640 650 660 DTLSGKLEES PVKDGLLKPT CGRKVSLPNK ALELKDRETF KAESPDKDGL LKPTCGRKVS 670 680 690 700 710 720 LPNKALELKD RETLKAEQMF PSESKQKDDE ENSWDFESFL ETLLQNDVCL PKATHQKEFD 730 740 750 760 770 780 TLSGKLEESP DKDGLLKPTC GRKVSLPNKA LELKDRETLK AESPDKDGLL KPTCVRKVSL 790 800 810 820 830 840 PNKALELKDR ETLKAAQMFP SESKQKDDEE NSWDFESFLE ALLQNDGCLP KATHQKEFDT 850 860 870 880 890 900 LSGKLEESPD KDGLLKPTCG MKISLPNKAL ELKDRETFKA EDVSSVESTF SLFGKPTTEN 910 920 930 940 950 960 SQSTKVEEDF NLTTKEGATK TVTGQQERDI GIIERAPQDQ TNKMPTSELG RKEDTKSTSD 970 980 990 1000 1010 1020 SEIISVSDTQ NYECLPEATY QKEIKTTNGK IEESPEKPSH FEPATEMQNS VPNKGLEWKN 1030 1040 1050 1060 1070 1080 KQTLRADSTT LSKILDALPS CERGRELKKD NCEQITAKME QTKNKFCVLQ KELSEAKEIK 1090 1100 1110 1120 1130 1140 SQLENQKAKW EQELCSVRLT LNQEEEKRRN VDILKEKIRP EEQLRKKLEV KQQLEQTLRI 1150 1160 1170 1180 1190 1200 QDIELKSVTS NLNQVSHTHE SENDLFHENC MLKKEIAMLK LEVATLKHQH QVKENKYFED 1210 1220 1230 1240 1250 1260 IKILQEKNAE LQMTLKLKQK TVTKRASQYR EQLKVLTAEN TMLTSKLKEK QDKEILETEI 1270 1280 1290 1300 1310 1320 ESHHPRLASA LQDHDQSVTS RKNQELAFHS AGDAPLQGIM NVDVSNTIYN NEVLHQPLYE 1330 1340 1350 1360 1370 1380 AQRKSKSPKI NLNYAGDDLR ENALVSEHAQ RDRCETQCQM KKAEHMYQNE QDNVDKHTEQ 1390 1400 1410 1420 1430 1440 QESLEQKLFQ LESKNRWLRQ QLVYAHKKVN KSKVTINIQF PEMKMQRHLN EKNEEVFNYG 1450 1460 1470 NHLKERIDQY EKEKAEREVS IKKYKYFSNF LKESGLG
	Isoform 2. Checksum: 8D167CE0CEEE8A71	FASTA	619	68,926
	10 20 30 40 50 60 MKRLLAAAGK GVRGPEPPNP FSERVYTEKD YGTIYFGDLG KIHTAASRGQ VQKLEKMTVG 70 80 90 100 110 120 KKPVNLNKRD MKKRTALHWA CVNGHAEVVT FLVDRKCQLN VLDGEGRTPL MKALQCEREA 130 140 150 160 170 180 CANILIDAGA DLNYVDVYGN TALHYAVYSE NLLMVATLLS YGAVIEVQNK ASLTPLLLAI 190 200 210 220 230 240 QKRSKQTVEF LLTKNANANA FNESKCTALM LAICEGSSEI VGMLLQQNVD VFAEDIHGIT 250 260 270 280 290 300 AERYAAACGV NYIHQQLLEH IRKLPKNPQN TNPEGTSTGT PDEAAPLAER TPDTAESLLE 310 320 330 340 350 360 KTPDEAARLV EGTSAKIQCL GKATSGKFEQ STEETPRKIL RPTKETSEKF SWPAKERSRK 370 380 390 400 410 420 ITWEEKETSV KTECVAGVTP NKTEVLEKGT SNMIACPTKE TSTKASTNVD VSSVEPIFSL 430 440 450 460 470 480 FGTRTIENSQ CTKVEEDFNL ATKIISKSAA QNYTCLPDAT YQKDIKTINH KIEDQMFPSE 490 500 510 520 530 540 SKREEDEEYS WDSGSLFESS AKTQVCIPES MYQKVMEINR EVEELPEKPS AFKPAVEMQK 550 560 570 580 590 600 TVPNKAFELK NEQTLRAAQM FPSESKQKDD EENSWDSESP CETVSQKDVY LPKATHQKEF 610 DTLSGKLEAY LWKESFSSK
	Isoform 3. Checksum: 83B72573CCC87179	FASTA	1,392	157,999
	10 20 30 40 50 60 MKRLLAAAGK GVRGPEPPNP FSERVYTEKD YGTIYFGDLG KIHTAASRGQ VQKLEKMTVG 70 80 90 100 110 120 KKPVNLNKRD MKKRTALHWA CVNGHAEVVT FLVDRKCQLN VLDGEGRTPL MKALQCEREA 130 140 150 160 170 180 CANILIDAGA DLNYVDVYGN TALHYAVYSE NLLMVATLLS YGAVIEVQNK ASLTPLLLAI 190 200 210 220 230 240 QKRSKQTVEF LLTKNANANA FNESKCTALM LAICEGSSEI VGMLLQQNVD VFAEDIHGIT 250 260 270 280 290 300 AERYAAACGV NYIHQQLLEH IRKLPKNPQN TNPEGTSTGT PDEAAPLAER TPDTAESLLE 310 320 330 340 350 360 KTPDEAARLV EGTSAKIQCL GKATSGKFEQ STEETPRKIL RPTKETSEKF SWPAKERSRK 370 380 390 400 410 420 ITWEEKETSV KTECVAGVTP NKTEVLEKGT SNMIACPTKE TSTKASTNVD VSSVEPIFSL 430 440 450 460 470 480 FGTRTIENSQ CTKVEEDFNL ATKIISKSAA QNYTCLPDAT YQKDIKTINH KIEDQMFPSE 490 500 510 520 530 540 SKREEDEEYS WDSGSLFESS AKTQVCIPES MYQKVMEINR EVEELPEKPS AFKPAVEMQK 550 560 570 580 590 600 TVPNKAFELK NEQTLRAAQM FPSESKQKDD EENSWDSESP CETVSQKDVY LPKATHQKEF 610 620 630 640 650 660 DTLSGKLEES PVKDGLLKPT CGRKVSLPNK ALELKDRETF KAESPDKDGL LKPTCGRKVS 670 680 690 700 710 720 LPNKALELKD RETLKAESPD KDGLLKPTCV RKVSLPNKAL ELKDRETLKA AQMFPSESKQ 730 740 750 760 770 780 KDDEENSWDF ESFLEALLQN DGCLPKATHQ KEFDTLSGKL EESPDKDGLL KPTCGMKISL 790 800 810 820 830 840 PNKALELKDR ETFKAEDVSS VESTFSLFGK PTTENSQSTK VEEDFNLTTK EGATKTVTGQ 850 860 870 880 890 900 QERDIGIIER APQDQTNKMP TSELGRKEDT KSTSDSEIIS VSDTQNYECL PEATYQKEIK 910 920 930 940 950 960 TTNGKIEESP EKPSHFEPAT EMQNSVPNKG LEWKNKQTLR ADSTTLSKIL DALPSCERGR 970 980 990 1000 1010 1020 ELKKDNCEQI TAKMEQTKNK FCVLQKELSE AKEIKSQLEN QKAKWEQELC SVRLTLNQEE 1030 1040 1050 1060 1070 1080 EKRRNVDILK EKIRPEEQLR KKLEVKQQLE QTLRIQDIEL KSVTSNLNQV SHTHESENDL 1090 1100 1110 1120 1130 1140 FHENCMLKKE IAMLKLEVAT LKHQHQVKEN KYFEDIKILQ EKNAELQMTL KLKQKTVTKR 1150 1160 1170 1180 1190 1200 ASQYREQLKV LTAENTMLTS KLKEKQDKEI LETEIESHHP RLASALQDHD QSVTSRKNQE 1210 1220 1230 1240 1250 1260 LAFHSAGDAP LQGIMNVDVS NTIYNNEVLH QPLYEAQRKS KSPKINLNYA GDDLRENALV 1270 1280 1290 1300 1310 1320 SEHAQRDRCE TQCQMKKAEH MYQNEQDNVD KHTEQQESLE QKLFQLESKN RWLRQQLVYA 1330 1340 1350 1360 1370 1380 HKKVNKSKVT INIQFPEMKM QRHLNEKNEE VFNYGNHLKE RIDQYEKEKA EREVSIKKYK 1390 YFSNFLKESG LG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S. Nature 437:551-555(2005) [PubMed: 16177791] [Abstract] 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: 15489334] [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: 11280766] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1249 (ISOFORM 3), TISSUE SPECIFICITY.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00000514. IPI00889594. IPI00921426.
RefSeq	NP_001138501.1.
UniGene	Hs.567889
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENST00000320584; ENSP00000317892; ENSG00000180777; Homo sapiens. [Genome view]
GeneID	374860.
KEGG	hsa:374860.
UCSC	uc010dlo.1. human.
Organism-specific databases
CTD	374860.
GeneCards	GC18P014741.
HGNC	HGNC:24165. ANKRD30B.
PharmGKB	PA134980028.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9BXX2.
OrthoDB	EOG9HDWH8
Gene expression databases
ArrayExpress	Q9BXX2.
Bgee	Q9BXX2.
CleanEx	HS_ANKRD30B.
Genevestigator	Q9BXX2.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF00023. Ank. 5 hits. [Graphical view]
SMART	SM00248. ANK. 6 hits. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 4 hits. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

AN30B_HUMAN

Accession

Primary (citable) accession number: Q9BXX2
Secondary accession number(s): Q4G175

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 8, 2008
Last sequence update:	April 8, 2008
Last modified:	November 24, 2009
This is version 44 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.