Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9H094 (NBPF3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neuroblastoma breakpoint family member 3
Alternative name(s):
Protein AE2
Protein SHIIIa4
Gene names
Name:NBPF3
ORF Names:L7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length633 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Cytoplasm Probable.

Tissue specificity

Expressed in testis and fetal heart, as well as in non small cell lung carcinoma and neuroblastoma cell line. Ref.2

Miscellaneous

Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1.

Sequence similarities

Belongs to the NBPF family.

Contains 5 NBPF domains.

Sequence caution

The sequence AAH24011.1 differs from that shown. Reason: Frameshift at position 252.

The sequence CAH72077.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAH72078.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H094-1)

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: Q9H094-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9H094-3)

The sequence of this isoform differs from the canonical sequence as follows:
     331-331: R → RSSGRFCCLISVGYIFCHPCPAWLIR
     350-386: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9H094-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-358: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9H094-5)

The sequence of this isoform differs from the canonical sequence as follows:
     45-114: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 633633Neuroblastoma breakpoint family member 3
PRO_0000288038

Regions

Domain221 – 31393NBPF 1
Domain314 – 40289NBPF 2
Domain405 – 46056NBPF 3
Domain461 – 55292NBPF 4
Domain555 – 63379NBPF 5
Coiled coil127 – 18660 Potential
Compositional bias335 – 3406Poly-Glu
Compositional bias467 – 4704Poly-Glu

Natural variations

Alternative sequence1 – 358358Missing in isoform 4.
VSP_025625
Alternative sequence1 – 5656Missing in isoform 2.
VSP_025626
Alternative sequence45 – 11470Missing in isoform 5.
VSP_044705
Alternative sequence3311R → RSSGRFCCLISVGYIFCHPC PAWLIR in isoform 3.
VSP_025627
Alternative sequence350 – 38637Missing in isoform 3.
VSP_025628
Natural variant1141Y → C. Ref.7
Corresponds to variant rs1827293 [ dbSNP | Ensembl ].
VAR_032374
Natural variant1981R → Q.
Corresponds to variant rs16825377 [ dbSNP | Ensembl ].
VAR_053909
Natural variant4441D → E. Ref.4 Ref.7
Corresponds to variant rs12043777 [ dbSNP | Ensembl ].
VAR_047965
Natural variant4591L → V. Ref.4 Ref.7
Corresponds to variant rs12034222 [ dbSNP | Ensembl ].
VAR_032375

Experimental info

Sequence conflict701E → Q in AAX85103. Ref.2
Sequence conflict781K → T in AAX85103. Ref.2
Sequence conflict2631C → Y in AAH24011. Ref.7
Sequence conflict429 – 4302FE → CG in BAG61704. Ref.4
Sequence conflict429 – 4302FE → CG in AAH24011. Ref.7
Sequence conflict5481K → N in BAG61704. Ref.4
Sequence conflict5481K → N in CAD38998. Ref.5
Sequence conflict5481K → N in AAH24011. Ref.7
Sequence conflict5641P → A in CAD38998. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 54B627C8AACB0187

FASTA63372,951
        10         20         30         40         50         60 
MPLTPTVQGF QWTLRGPDVE TSPFGAPRAA SHGVGRHQEL RDPTVPGPTS SATNVSMVVS 

        70         80         90        100        110        120 
AGPWSGEKAE MNILEINKKS RPQLAENKQQ FRNLKQKCLV TQVAYFLANR QNNYDYEDCK 

       130        140        150        160        170        180 
DLIKSMLRDE RLLTEEKLAE ELGQAEELRQ YKVLVHSQER ELTQLREKLQ EGRDASRSLN 

       190        200        210        220        230        240 
QHLQALLTPD EPDNSQGRDL REQLAEGCRL AQHLVQKLSP ENDDDEDEDV KVEEAEKVQE 

       250        260        270        280        290        300 
LYAPREVQKA EEKEVPEDSL EECAITCSNS HHPCESNQPY GNTRITFEED QVDSTLIDSS 

       310        320        330        340        350        360 
SHDEWLDAVC IIPENESDHE QEEEKGPVSP RNLQESEEEE APQESWDEGD WTLSIPPDMS 

       370        380        390        400        410        420 
ASYQSDRSTF HSVEEQQVGL ALDIGRHWCD QVKKEDQEAT SPRLSRELLD EKEPEVLQDS 

       430        440        450        460        470        480 
LDRFYSTPFE YLELPDLCQP YRSDFYSLQE QHLGLALDLD RMKKDQEEEE DQGPPCPRLS 

       490        500        510        520        530        540 
RELPEVVEPE DLQDSLDRWY STPFSYPELP DSCQPYGSCF YSLEEEHVGF SLDVDEIEKY 

       550        560        570        580        590        600 
QEGEEDQKPP CPRLNEVLME AEEPEVLQDS LDRCYSTTST YFQLHASFQQ YRSAFYSFEE 

       610        620        630 
QDVSLALDVD NRFFTLTVIR HHLAFQMGVI FPH 

« Hide

Isoform 2 [UniParc].

Checksum: 61DAE53FE2F76565
Show »

FASTA57767,071
Isoform 3 [UniParc].

Checksum: FC1DC2EE6B89D267
Show »

FASTA62171,643
Isoform 4 [UniParc].

Checksum: A7824BBCFF6C75C7
Show »

FASTA27532,245
Isoform 5 [UniParc].

Checksum: 5F33E67F8B6FEC34
Show »

FASTA56365,144

References

« Hide 'large scale' references
[1]"Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer."
Petroziello J., Yamane A., Westendorf L., Thompson M., McDonagh C., Cerveny C., Law C.-L., Wahl A., Carter P.
Oncogene 23:7734-7745(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution."
Vandepoele K., Van Roy N., Staes K., Speleman F., van Roy F.
Mol. Biol. Evol. 22:2265-2274(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
[3]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[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. expand/collapse author list , 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] (ISOFORMS 1 AND 5), VARIANTS GLU-444 AND VAL-459.
Tissue: Brain and Testis.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Testis.
[6]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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 3), VARIANTS CYS-114; GLU-444 AND VAL-459.
Tissue: Testis.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY598326 mRNA. Translation: AAT06737.1.
AF379629 mRNA. Translation: AAO15397.1.
AY894564 mRNA. Translation: AAX85103.1.
AK292580 mRNA. Translation: BAF85269.1.
AK299840 mRNA. Translation: BAG61704.1.
AL136890 mRNA. Translation: CAB66824.1.
AL834330 mRNA. Translation: CAD38998.2.
AL592309 Genomic DNA. Translation: CAH72075.1.
AL592309 Genomic DNA. Translation: CAH72077.1. Sequence problems.
AL592309 Genomic DNA. Translation: CAH72078.1. Sequence problems.
BC024011 mRNA. Translation: AAH24011.1. Frameshift.
RefSeqNP_001243345.1. NM_001256416.2.
NP_001243346.1. NM_001256417.2.
NP_115640.1. NM_032264.4.
UniGeneHs.325422.

3D structure databases

ProteinModelPortalQ9H094.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123958. 6 interactions.
IntActQ9H094. 2 interactions.
MINTMINT-1448002.

PTM databases

PhosphoSiteQ9H094.

Polymorphism databases

DMDM74733518.

Proteomic databases

PaxDbQ9H094.
PRIDEQ9H094.

Protocols and materials databases

DNASU84224.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000318220; ENSP00000316739; ENSG00000142794. [Q9H094-2]
ENST00000318249; ENSP00000316782; ENSG00000142794. [Q9H094-1]
ENST00000342104; ENSP00000340336; ENSG00000142794. [Q9H094-3]
ENST00000454000; ENSP00000415711; ENSG00000142794. [Q9H094-5]
GeneID84224.
KEGGhsa:84224.
UCSCuc001ber.4. human. [Q9H094-1]
uc009vqb.4. human. [Q9H094-3]

Organism-specific databases

CTD84224.
GeneCardsGC01P021766.
H-InvDBHIX0000224.
HIX0023154.
HGNCHGNC:25076. NBPF3.
MIM612992. gene.
neXtProtNX_Q9H094.
PharmGKBPA142671283.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG243407.
HOVERGENHBG058300.
InParanoidQ9H094.
OMANESDHEQ.
OrthoDBEOG7GBFWV.
PhylomeDBQ9H094.
TreeFamTF341151.

Gene expression databases

BgeeQ9H094.
CleanExHS_NBPF3.
GenevestigatorQ9H094.

Family and domain databases

InterProIPR010630. NBPF_dom.
[Graphical view]
PfamPF06758. DUF1220. 5 hits.
[Graphical view]
PROSITEPS51316. NBPF. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNBPF3.
GenomeRNAi84224.
NextBio73664.
PROQ9H094.
SOURCESearch...

Entry information

Entry nameNBPF3_HUMAN
AccessionPrimary (citable) accession number: Q9H094
Secondary accession number(s): A8K965 expand/collapse secondary AC list , B4DSP2, I3L0I8, Q3BBW1, Q5VTG2, Q5VTG3, Q5VTG4, Q8IX78, Q8ND86, Q8TC96
Entry history
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: March 1, 2001
Last modified: March 19, 2014
This is version 85 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM