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Protein

Neuroblastoma breakpoint family member 3

Gene

NBPF3

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

Functioni

Miscellaneous

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

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000142794.18
HGNCiHGNC:25076 NBPF3
MIMi612992 gene
neXtProtiNX_Q9H094

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi84224
OpenTargetsiENSG00000142794
PharmGKBiPA142671283

Polymorphism and mutation databases

DMDMi74733518

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002880381 – 633Neuroblastoma breakpoint family member 3Add BLAST633

Proteomic databases

EPDiQ9H094
MaxQBiQ9H094
PaxDbiQ9H094
PeptideAtlasiQ9H094
PRIDEiQ9H094
ProteomicsDBi80221
80222 [Q9H094-2]
80223 [Q9H094-3]
80224 [Q9H094-4]

PTM databases

iPTMnetiQ9H094
PhosphoSitePlusiQ9H094

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

BgeeiENSG00000142794
CleanExiHS_NBPF3
ExpressionAtlasiQ9H094 baseline and differential
GenevisibleiQ9H094 HS

Organism-specific databases

HPAiHPA042595
HPA043692
HPA044023
HPA046971
HPA058050

Interactioni

Protein-protein interaction databases

BioGridi123958, 5 interactors
IntActiQ9H094, 2 interactors
STRINGi9606.ENSP00000316782

Structurei

3D structure databases

ProteinModelPortaliQ9H094
SMRiQ9H094
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini221 – 313NBPF 1PROSITE-ProRule annotationAdd BLAST93
Domaini314 – 402NBPF 2PROSITE-ProRule annotationAdd BLAST89
Domaini405 – 460NBPF 3PROSITE-ProRule annotationAdd BLAST56
Domaini461 – 552NBPF 4PROSITE-ProRule annotationAdd BLAST92
Domaini555 – 633NBPF 5PROSITE-ProRule annotationAdd BLAST79

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili127 – 186Sequence analysisAdd BLAST60

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi335 – 340Poly-Glu6
Compositional biasi467 – 470Poly-Glu4

Sequence similaritiesi

Belongs to the NBPF family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410KG3F Eukaryota
ENOG4110SQ7 LUCA
GeneTreeiENSGT00420000029746
HOGENOMiHOG000049041
HOVERGENiHBG058300
InParanoidiQ9H094
OMAiNESDHEQ
OrthoDBiEOG091G03WI
PhylomeDBiQ9H094
TreeFamiTF341151

Family and domain databases

InterProiView protein in InterPro
IPR010630 NBPF_dom
PfamiView protein in Pfam
PF06758 DUF1220, 5 hits
SMARTiView protein in SMART
SM01148 DUF1220, 5 hits
PROSITEiView protein in PROSITE
PS51316 NBPF, 5 hits

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MPLTPTVQGF QWTLRGPDVE TSPFGAPRAA SHGVGRHQEL RDPTVPGPTS
60 70 80 90 100
SATNVSMVVS AGPWSGEKAE MNILEINKKS RPQLAENKQQ FRNLKQKCLV
110 120 130 140 150
TQVAYFLANR QNNYDYEDCK DLIKSMLRDE RLLTEEKLAE ELGQAEELRQ
160 170 180 190 200
YKVLVHSQER ELTQLREKLQ EGRDASRSLN QHLQALLTPD EPDNSQGRDL
210 220 230 240 250
REQLAEGCRL AQHLVQKLSP ENDDDEDEDV KVEEAEKVQE LYAPREVQKA
260 270 280 290 300
EEKEVPEDSL EECAITCSNS HHPCESNQPY GNTRITFEED QVDSTLIDSS
310 320 330 340 350
SHDEWLDAVC IIPENESDHE QEEEKGPVSP RNLQESEEEE APQESWDEGD
360 370 380 390 400
WTLSIPPDMS ASYQSDRSTF HSVEEQQVGL ALDIGRHWCD QVKKEDQEAT
410 420 430 440 450
SPRLSRELLD EKEPEVLQDS LDRFYSTPFE YLELPDLCQP YRSDFYSLQE
460 470 480 490 500
QHLGLALDLD RMKKDQEEEE DQGPPCPRLS RELPEVVEPE DLQDSLDRWY
510 520 530 540 550
STPFSYPELP DSCQPYGSCF YSLEEEHVGF SLDVDEIEKY QEGEEDQKPP
560 570 580 590 600
CPRLNEVLME AEEPEVLQDS LDRCYSTTST YFQLHASFQQ YRSAFYSFEE
610 620 630
QDVSLALDVD NRFFTLTVIR HHLAFQMGVI FPH
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 differs from that shown. Reason: Frameshift at position 252.Curated
The sequence CAH72077 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH72078 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti70E → Q in AAX85103 (PubMed:16079250).Curated1
Sequence conflicti78K → T in AAX85103 (PubMed:16079250).Curated1
Sequence conflicti263C → Y in AAH24011 (PubMed:15489334).Curated1
Sequence conflicti429 – 430FE → CG in BAG61704 (PubMed:14702039).Curated2
Sequence conflicti429 – 430FE → CG in AAH24011 (PubMed:15489334).Curated2
Sequence conflicti548K → N in BAG61704 (PubMed:14702039).Curated1
Sequence conflicti548K → N in CAD38998 (PubMed:17974005).Curated1
Sequence conflicti548K → N in AAH24011 (PubMed:15489334).Curated1
Sequence conflicti564P → A in CAD38998 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032374114Y → C1 PublicationCorresponds to variant dbSNP:rs1827293Ensembl.1
Natural variantiVAR_053909198R → Q. Corresponds to variant dbSNP:rs16825377Ensembl.1
Natural variantiVAR_047965444D → E2 PublicationsCorresponds to variant dbSNP:rs12043777Ensembl.1
Natural variantiVAR_032375459L → V2 PublicationsCorresponds to variant dbSNP:rs12034222Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0256251 – 358Missing in isoform 4. 1 PublicationAdd BLAST358
Alternative sequenceiVSP_0256261 – 56Missing in isoform 2. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_04470545 – 114Missing in isoform 5. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_025627331R → RSSGRFCCLISVGYIFCHPC PAWLIR in isoform 3. 1 Publication1
Alternative sequenceiVSP_025628350 – 386Missing in isoform 3. 1 PublicationAdd BLAST37

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS81275.1 [Q9H094-2]
RefSeqiNP_001243345.1, NM_001256416.2 [Q9H094-3]
NP_001243346.1, NM_001256417.2 [Q9H094-5]
NP_001317310.1, NM_001330381.1 [Q9H094-2]
NP_115640.1, NM_032264.4 [Q9H094-1]
XP_006711021.1, XM_006710958.1 [Q9H094-2]
XP_006711022.1, XM_006710959.2 [Q9H094-2]
XP_011540578.1, XM_011542276.1 [Q9H094-2]
XP_011540579.1, XM_011542277.1 [Q9H094-2]
XP_011540580.1, XM_011542278.1 [Q9H094-2]
XP_011540583.1, XM_011542281.1 [Q9H094-2]
XP_016857988.1, XM_017002499.1 [Q9H094-2]
UniGeneiHs.325422

Genome annotation databases

EnsembliENST00000318249; ENSP00000316782; ENSG00000142794 [Q9H094-1]
ENST00000342104; ENSP00000340336; ENSG00000142794 [Q9H094-3]
ENST00000454000; ENSP00000415711; ENSG00000142794 [Q9H094-5]
ENST00000619554; ENSP00000484028; ENSG00000142794 [Q9H094-2]
GeneIDi84224
KEGGihsa:84224
UCSCiuc001ber.5 human [Q9H094-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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 historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: March 1, 2001
Last modified: June 20, 2018
This is version 115 of the entry and version 1 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

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