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Q9H094

- NBPF3_HUMAN

UniProt

Q9H094 - NBPF3_HUMAN

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Protein
Neuroblastoma breakpoint family member 3
Gene
NBPF3, L7
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Neuroblastoma breakpoint family member 3
Alternative name(s):
Protein AE2
Protein SHIIIa4
Gene namesi
Name:NBPF3
ORF Names:L7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:25076. NBPF3.

Subcellular locationi

Cytoplasm Inferred

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671283.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 633633Neuroblastoma breakpoint family member 3
PRO_0000288038Add
BLAST

Proteomic databases

PaxDbiQ9H094.
PRIDEiQ9H094.

PTM databases

PhosphoSiteiQ9H094.

Expressioni

Tissue specificityi

Expressed in testis and fetal heart, as well as in non small cell lung carcinoma and neuroblastoma cell line.1 Publication

Gene expression databases

BgeeiQ9H094.
CleanExiHS_NBPF3.
GenevestigatoriQ9H094.

Interactioni

Protein-protein interaction databases

BioGridi123958. 6 interactions.
IntActiQ9H094. 2 interactions.
MINTiMINT-1448002.

Structurei

3D structure databases

ProteinModelPortaliQ9H094.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini221 – 31393NBPF 1
Add
BLAST
Domaini314 – 40289NBPF 2
Add
BLAST
Domaini405 – 46056NBPF 3
Add
BLAST
Domaini461 – 55292NBPF 4
Add
BLAST
Domaini555 – 63379NBPF 5
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili127 – 18660 Reviewed prediction
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi335 – 3406Poly-Glu
Compositional biasi467 – 4704Poly-Glu

Sequence similaritiesi

Belongs to the NBPF family.
Contains 5 NBPF domains.

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiNOG243407.
HOVERGENiHBG058300.
InParanoidiQ9H094.
OMAiNESDHEQ.
OrthoDBiEOG7GBFWV.
PhylomeDBiQ9H094.
TreeFamiTF341151.

Family and domain databases

InterProiIPR010630. NBPF_dom.
[Graphical view]
PfamiPF06758. DUF1220. 5 hits.
[Graphical view]
PROSITEiPS51316. NBPF. 5 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9H094-1) [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

MPLTPTVQGF QWTLRGPDVE TSPFGAPRAA SHGVGRHQEL RDPTVPGPTS    50
SATNVSMVVS AGPWSGEKAE MNILEINKKS RPQLAENKQQ FRNLKQKCLV 100
TQVAYFLANR QNNYDYEDCK DLIKSMLRDE RLLTEEKLAE ELGQAEELRQ 150
YKVLVHSQER ELTQLREKLQ EGRDASRSLN QHLQALLTPD EPDNSQGRDL 200
REQLAEGCRL AQHLVQKLSP ENDDDEDEDV KVEEAEKVQE LYAPREVQKA 250
EEKEVPEDSL EECAITCSNS HHPCESNQPY GNTRITFEED QVDSTLIDSS 300
SHDEWLDAVC IIPENESDHE QEEEKGPVSP RNLQESEEEE APQESWDEGD 350
WTLSIPPDMS ASYQSDRSTF HSVEEQQVGL ALDIGRHWCD QVKKEDQEAT 400
SPRLSRELLD EKEPEVLQDS LDRFYSTPFE YLELPDLCQP YRSDFYSLQE 450
QHLGLALDLD RMKKDQEEEE DQGPPCPRLS RELPEVVEPE DLQDSLDRWY 500
STPFSYPELP DSCQPYGSCF YSLEEEHVGF SLDVDEIEKY QEGEEDQKPP 550
CPRLNEVLME AEEPEVLQDS LDRCYSTTST YFQLHASFQQ YRSAFYSFEE 600
QDVSLALDVD NRFFTLTVIR HHLAFQMGVI FPH 633
Length:633
Mass (Da):72,951
Last modified:March 1, 2001 - v1
Checksum:i54B627C8AACB0187
GO
Isoform 2 (identifier: Q9H094-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.

Note: No experimental confirmation available.

Show »
Length:577
Mass (Da):67,071
Checksum:i61DAE53FE2F76565
GO
Isoform 3 (identifier: Q9H094-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     331-331: R → RSSGRFCCLISVGYIFCHPCPAWLIR
     350-386: Missing.

Note: No experimental confirmation available.

Show »
Length:621
Mass (Da):71,643
Checksum:iFC1DC2EE6B89D267
GO
Isoform 4 (identifier: Q9H094-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-358: Missing.

Note: No experimental confirmation available.

Show »
Length:275
Mass (Da):32,245
Checksum:iA7824BBCFF6C75C7
GO
Isoform 5 (identifier: Q9H094-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     45-114: Missing.

Note: No experimental confirmation available.

Show »
Length:563
Mass (Da):65,144
Checksum:i5F33E67F8B6FEC34
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti114 – 1141Y → C.1 Publication
Corresponds to variant rs1827293 [ dbSNP | Ensembl ].
VAR_032374
Natural varianti198 – 1981R → Q.
Corresponds to variant rs16825377 [ dbSNP | Ensembl ].
VAR_053909
Natural varianti444 – 4441D → E.2 Publications
Corresponds to variant rs12043777 [ dbSNP | Ensembl ].
VAR_047965
Natural varianti459 – 4591L → V.2 Publications
Corresponds to variant rs12034222 [ dbSNP | Ensembl ].
VAR_032375

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 358358Missing in isoform 4.
VSP_025625Add
BLAST
Alternative sequencei1 – 5656Missing in isoform 2.
VSP_025626Add
BLAST
Alternative sequencei45 – 11470Missing in isoform 5.
VSP_044705Add
BLAST
Alternative sequencei331 – 3311R → RSSGRFCCLISVGYIFCHPC PAWLIR in isoform 3.
VSP_025627
Alternative sequencei350 – 38637Missing in isoform 3.
VSP_025628Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti70 – 701E → Q in AAX85103. 1 Publication
Sequence conflicti78 – 781K → T in AAX85103. 1 Publication
Sequence conflicti263 – 2631C → Y in AAH24011. 1 Publication
Sequence conflicti429 – 4302FE → CG in BAG61704. 1 Publication
Sequence conflicti429 – 4302FE → CG in AAH24011. 1 Publication
Sequence conflicti548 – 5481K → N in BAG61704. 1 Publication
Sequence conflicti548 – 5481K → N in CAD38998. 1 Publication
Sequence conflicti548 – 5481K → N in AAH24011. 1 Publication
Sequence conflicti564 – 5641P → A in CAD38998. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS216.1. [Q9H094-1]
CCDS57976.1. [Q9H094-3]
CCDS57977.1. [Q9H094-5]
RefSeqiNP_001243345.1. NM_001256416.2. [Q9H094-3]
NP_001243346.1. NM_001256417.2. [Q9H094-5]
NP_115640.1. NM_032264.4. [Q9H094-1]
XP_006711021.1. XM_006710958.1. [Q9H094-2]
XP_006711022.1. XM_006710959.1. [Q9H094-2]
UniGeneiHs.325422.

Genome annotation databases

EnsembliENST00000318220; ENSP00000316739; ENSG00000142794. [Q9H094-2]
ENST00000318249; ENSP00000316782; ENSG00000142794. [Q9H094-1]
ENST00000342104; ENSP00000340336; ENSG00000142794. [Q9H094-3]
ENST00000454000; ENSP00000415711; ENSG00000142794. [Q9H094-5]
GeneIDi84224.
KEGGihsa:84224.
UCSCiuc001ber.4. human. [Q9H094-1]
uc009vqb.4. human. [Q9H094-3]

Polymorphism databases

DMDMi74733518.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS216.1. [Q9H094-1 ]
CCDS57976.1. [Q9H094-3 ]
CCDS57977.1. [Q9H094-5 ]
RefSeqi NP_001243345.1. NM_001256416.2. [Q9H094-3 ]
NP_001243346.1. NM_001256417.2. [Q9H094-5 ]
NP_115640.1. NM_032264.4. [Q9H094-1 ]
XP_006711021.1. XM_006710958.1. [Q9H094-2 ]
XP_006711022.1. XM_006710959.1. [Q9H094-2 ]
UniGenei Hs.325422.

3D structure databases

ProteinModelPortali Q9H094.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123958. 6 interactions.
IntActi Q9H094. 2 interactions.
MINTi MINT-1448002.

PTM databases

PhosphoSitei Q9H094.

Polymorphism databases

DMDMi 74733518.

Proteomic databases

PaxDbi Q9H094.
PRIDEi Q9H094.

Protocols and materials databases

DNASUi 84224.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000318220 ; ENSP00000316739 ; ENSG00000142794 . [Q9H094-2 ]
ENST00000318249 ; ENSP00000316782 ; ENSG00000142794 . [Q9H094-1 ]
ENST00000342104 ; ENSP00000340336 ; ENSG00000142794 . [Q9H094-3 ]
ENST00000454000 ; ENSP00000415711 ; ENSG00000142794 . [Q9H094-5 ]
GeneIDi 84224.
KEGGi hsa:84224.
UCSCi uc001ber.4. human. [Q9H094-1 ]
uc009vqb.4. human. [Q9H094-3 ]

Organism-specific databases

CTDi 84224.
GeneCardsi GC01P021766.
H-InvDB HIX0000224.
HIX0023154.
HGNCi HGNC:25076. NBPF3.
MIMi 612992. gene.
neXtProti NX_Q9H094.
PharmGKBi PA142671283.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG243407.
HOVERGENi HBG058300.
InParanoidi Q9H094.
OMAi NESDHEQ.
OrthoDBi EOG7GBFWV.
PhylomeDBi Q9H094.
TreeFami TF341151.

Miscellaneous databases

GeneWikii NBPF3.
GenomeRNAii 84224.
NextBioi 73664.
PROi Q9H094.
SOURCEi Search...

Gene expression databases

Bgeei Q9H094.
CleanExi HS_NBPF3.
Genevestigatori Q9H094.

Family and domain databases

InterProi IPR010630. NBPF_dom.
[Graphical view ]
Pfami PF06758. DUF1220. 5 hits.
[Graphical view ]
PROSITEi PS51316. NBPF. 5 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    , 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. 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.
    , 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.

Entry informationi

Entry nameiNBPF3_HUMAN
AccessioniPrimary (citable) accession number: Q9H094
Secondary accession number(s): A8K965
, B4DSP2, I3L0I8, Q3BBW1, Q5VTG2, Q5VTG3, Q5VTG4, Q8IX78, Q8ND86, Q8TC96
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 87 of the entry and version 1 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

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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

External Data

Dasty 3

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