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Protein

Neuroblastoma breakpoint family member 1

Gene

NBPF1

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 1
Gene namesi
Name:NBPF1
Synonyms:KIAA1693
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000219481.10
HGNCiHGNC:26088 NBPF1
MIMi610501 gene
neXtProtiNX_Q3BBV0

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi55672
OpenTargetsiENSG00000219481
PharmGKBiPA128395786

Polymorphism and mutation databases

DMDMi121942439

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002880371 – 1214Neuroblastoma breakpoint family member 1Add BLAST1214

Proteomic databases

EPDiQ3BBV0
MaxQBiQ3BBV0
PeptideAtlasiQ3BBV0
PRIDEiQ3BBV0
ProteomicsDBi61674

PTM databases

iPTMnetiQ3BBV0
PhosphoSitePlusiQ3BBV0

Expressioni

Tissue specificityi

Widely expressed. The only tissue which shows a weak expression is kidney.1 Publication

Gene expression databases

BgeeiENSG00000219481 Expressed in 162 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_NBPF1

Organism-specific databases

HPAiHPA038748
HPA042595
HPA043105
HPA043692
HPA044023
HPA046971
HPA058050

Interactioni

Protein-protein interaction databases

BioGridi120804, 4 interactors
IntActiQ3BBV0, 3 interactors

Structurei

3D structure databases

ProteinModelPortaliQ3BBV0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini165 – 259NBPF 1PROSITE-ProRule annotationAdd BLAST95
Domaini436 – 530NBPF 2PROSITE-ProRule annotationAdd BLAST95
Domaini707 – 799NBPF 3PROSITE-ProRule annotationAdd BLAST93
Domaini800 – 888NBPF 4PROSITE-ProRule annotationAdd BLAST89
Domaini891 – 946NBPF 5PROSITE-ProRule annotationAdd BLAST56
Domaini947 – 1038NBPF 6PROSITE-ProRule annotationAdd BLAST92
Domaini1041 – 1114NBPF 7PROSITE-ProRule annotationAdd BLAST74
Domaini1116 – 1214NBPF 8PROSITE-ProRule annotationAdd BLAST99

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili70 – 128Sequence analysisAdd BLAST59
Coiled coili292 – 399Sequence analysisAdd BLAST108
Coiled coili610 – 670Sequence analysisAdd BLAST61

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi806 – 810Poly-Glu5
Compositional biasi821 – 826Poly-Glu6
Compositional biasi1028 – 1031Poly-Glu4
Compositional biasi1116 – 1121Poly-Arg6

Sequence similaritiesi

Belongs to the NBPF family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

GeneTreeiENSGT00420000029746
HOVERGENiHBG058300
InParanoidiQ3BBV0
OMAiNEKLHPQ
OrthoDBiEOG091G03WI
PhylomeDBiQ3BBV0

Family and domain databases

InterProiView protein in InterPro
IPR010630 NBPF_dom
PfamiView protein in Pfam
PF06758 DUF1220, 8 hits
SMARTiView protein in SMART
SM01148 DUF1220, 8 hits
PROSITEiView protein in PROSITE
PS51316 NBPF, 8 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q3BBV0-1) [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
MVVSAGPWSS EKAETNILEI NEKLRPQLAE NKQQFRNLKE KCFVTQLAGF
60 70 80 90 100
LANRQKKYKY EECKDLIKFM LRNERQFKEE KLAEQLKQAE ELRQYKVLVH
110 120 130 140 150
SQERELTQLR EKLREGRDAS RSLNQHLQAL LTPDKPDKSQ GQDLQEQLAE
160 170 180 190 200
GCRLAQQLFQ KLSPENDEDE DEDVQVEEAE KVLESSAPRE VQKAEESKVP
210 220 230 240 250
EDSLEECAIT CSNSHSPCDS NQPHKNINIT FEEDKVNSTL VVDRESSHDE
260 270 280 290 300
CQDAVNILPV PGPTSSATNV SMVVSAGPLS SEKAEMNILE INEKLHPQLA
310 320 330 340 350
EKKQQFRNLK EKCFVTQLAC FLANQQNKYK YEECKDLIKS MLRNERQFKE
360 370 380 390 400
EKLAEQLKQA EELRQYKVLV HSQERELTQL REKLREGRDA SRSLNQHLQA
410 420 430 440 450
LLTPDKPDKS QGQDLQEQLA EGCRLAQQLF QKLSPENDED EDEDVQVEEA
460 470 480 490 500
EKVLESSAPR EVQKAEESKV PEDSLEECAI TCSNSHGPCD SNQPHKNINI
510 520 530 540 550
TFEEDKVNSA LVVDRESSHD ECQDAVNILP VPGPTSSATN VSMVVSAGPL
560 570 580 590 600
SSEKAEMNIL EINEKLHPQL AEKKQQFRNL KEKCFVTQLA CFLANQQNKY
610 620 630 640 650
KNEECKDLIK SMLRNERQFK EEKLAEQLKQ AEELRQYKVL VHSQERELTQ
660 670 680 690 700
LREKLREGRD ASCSLNQHLQ ALLTPDEPDK SQGQDLQEQL AEGCRLAQHL
710 720 730 740 750
VQKLSPENDN DDDEDVQVEV AEKVQKSSAP REMPKAEEKE VPEDSLEECA
760 770 780 790 800
ITCSNSHGPY DSNQPHRKTK ITFEEDKVDS TLIGSSSHVE WEDAVHIIPE
810 820 830 840 850
NESDDEEEEE KGPVSPRNLQ ESEEEEVPQE SWDEGYSTLS IPPEMLASYK
860 870 880 890 900
SYSGTFHSLE EQQVCMAVDI GGHRWDQVKK EDQEATGPRL SRELLDEKGP
910 920 930 940 950
EVLQDSLDRC YSTPSGYLEL TDSCQPYRSA FYILEQQRVG WALDMDEIEK
960 970 980 990 1000
YQEVEEDQDP SCPRLSRELL DEKEPEVLQD SLDRCYSTPS GYLELPDLGQ
1010 1020 1030 1040 1050
PYRSAVYSLE EQYLGLALDV DRIKKDQEEE EDQGPPCPRL SRELLEAVEP
1060 1070 1080 1090 1100
EVLQDSLDRC YSTPSSCLEQ PDSCLPYGSS FYALEEKHVG FSLDVGEIEK
1110 1120 1130 1140 1150
KGKGKKRRGR RSTKKRRRRG RKEGEEDQNP PCPRLSGMLM EVEEPEVLQD
1160 1170 1180 1190 1200
SLDRCYSTPS MYFELPDSFQ HYRSVFYSFE EQHISFALDV DNRFLTLMGT
1210
SLHLVFQMGV IFPQ
Length:1,214
Mass (Da):139,258
Last modified:March 28, 2018 - v2
Checksum:iEEE78B814EEF5BDF
GO
Isoform 2 (identifier: Q3BBV0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     962-1036: Missing.

Note: No experimental confirmation available. Derived from EST data.
Show »
Length:1,139
Mass (Da):130,646
Checksum:i0A875285213FAB69
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
S4R2X0S4R2X0_HUMAN
Neuroblastoma breakpoint family mem...
NBPF1
1,096Annotation score:
S4R2Z6S4R2Z6_HUMAN
Neuroblastoma breakpoint family mem...
NBPF1
71Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti135K → E in AAX85114 (PubMed:16079250).Curated1
Sequence conflicti157 – 159QLF → HLV in AAX85114 (PubMed:16079250).Curated3
Sequence conflicti216S → G in AAX85114 (PubMed:16079250).Curated1
Sequence conflicti291I → M in AAX85114 (PubMed:16079250).Curated1
Sequence conflicti296H → R in AAX85114 (PubMed:16079250).Curated1
Sequence conflicti320C → G in AAX85114 (PubMed:16079250).Curated1
Sequence conflicti335K → E in AAX85114 (PubMed:16079250).Curated1
Sequence conflicti406K → E in AAX85114 (PubMed:16079250).Curated1
Sequence conflicti428 – 430QLF → HLV in AAX85114 (PubMed:16079250).Curated3
Sequence conflicti487G → S in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti562I → M in AAX85114 (PubMed:16079250).Curated1
Sequence conflicti567H → R in AAX85114 (PubMed:16079250).Curated1
Sequence conflicti602N → Y in AAX85114 (PubMed:16079250).Curated1
Sequence conflicti699 – 701HLV → QLF in AAX85114 (PubMed:16079250).Curated3
Sequence conflicti1138M → V in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti1138M → V in AAH34418 (PubMed:15489334).Curated1
Sequence conflicti1162Y → F in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti1162Y → F in AAH34418 (PubMed:15489334).Curated1
Sequence conflicti1200T → R in BAB21784 (PubMed:11214970).Curated1
Sequence conflicti1200T → R in AAH34418 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03236420I → M. Corresponds to variant dbSNP:rs9730080Ensembl.1
Natural variantiVAR_03236531N → K. Corresponds to variant dbSNP:rs9730077Ensembl.1
Natural variantiVAR_032366510A → T1 PublicationCorresponds to variant dbSNP:rs681623Ensembl.1
Natural variantiVAR_032367591C → G. Corresponds to variant dbSNP:rs3738661Ensembl.1
Natural variantiVAR_032368612M → V1 PublicationCorresponds to variant dbSNP:rs672812Ensembl.1
Natural variantiVAR_032369663C → R1 PublicationCorresponds to variant dbSNP:rs28453011Ensembl.1
Natural variantiVAR_032370712D → H1 PublicationCorresponds to variant dbSNP:rs3901680Ensembl.1
Natural variantiVAR_032371726K → E. Corresponds to variant dbSNP:rs3901679Ensembl.1
Natural variantiVAR_032372734P → Q1 PublicationCorresponds to variant dbSNP:rs9727080Ensembl.1
Natural variantiVAR_032373850K → Q2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_059360962 – 1036Missing in isoform 2. CuratedAdd BLAST75

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY894575 mRNA Translation: AAX85114.1
AL137798 Genomic DNA No translation available.
AL355149 Genomic DNA No translation available.
AB051480 mRNA Translation: BAB21784.1
BC034418 mRNA Translation: AAH34418.1
RefSeqiNP_060410.2, NM_017940.4
UniGeneiHs.467587
Hs.523572
Hs.714127
Hs.721588
Hs.732154
Hs.745004

Genome annotation databases

EnsembliENST00000430580; ENSP00000474456; ENSG00000219481 [Q3BBV0-2]
GeneIDi55672
KEGGihsa:55672

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY894575 mRNA Translation: AAX85114.1
AL137798 Genomic DNA No translation available.
AL355149 Genomic DNA No translation available.
AB051480 mRNA Translation: BAB21784.1
BC034418 mRNA Translation: AAH34418.1
RefSeqiNP_060410.2, NM_017940.4
UniGeneiHs.467587
Hs.523572
Hs.714127
Hs.721588
Hs.732154
Hs.745004

3D structure databases

ProteinModelPortaliQ3BBV0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120804, 4 interactors
IntActiQ3BBV0, 3 interactors

PTM databases

iPTMnetiQ3BBV0
PhosphoSitePlusiQ3BBV0

Polymorphism and mutation databases

DMDMi121942439

Proteomic databases

EPDiQ3BBV0
MaxQBiQ3BBV0
PeptideAtlasiQ3BBV0
PRIDEiQ3BBV0
ProteomicsDBi61674

Protocols and materials databases

DNASUi55672
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000430580; ENSP00000474456; ENSG00000219481 [Q3BBV0-2]
GeneIDi55672
KEGGihsa:55672

Organism-specific databases

CTDi55672
DisGeNETi55672
EuPathDBiHostDB:ENSG00000219481.10
GeneCardsiNBPF1
H-InvDBiHIX0000173
HGNCiHGNC:26088 NBPF1
HPAiHPA038748
HPA042595
HPA043105
HPA043692
HPA044023
HPA046971
HPA058050
MIMi610501 gene
neXtProtiNX_Q3BBV0
OpenTargetsiENSG00000219481
PharmGKBiPA128395786
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00420000029746
HOVERGENiHBG058300
InParanoidiQ3BBV0
OMAiNEKLHPQ
OrthoDBiEOG091G03WI
PhylomeDBiQ3BBV0

Miscellaneous databases

ChiTaRSiNBPF1 human
GenomeRNAii55672
PROiPR:Q3BBV0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000219481 Expressed in 162 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_NBPF1

Family and domain databases

InterProiView protein in InterPro
IPR010630 NBPF_dom
PfamiView protein in Pfam
PF06758 DUF1220, 8 hits
SMARTiView protein in SMART
SM01148 DUF1220, 8 hits
PROSITEiView protein in PROSITE
PS51316 NBPF, 8 hits
ProtoNetiSearch...

Entry informationi

Entry nameiNBPF1_HUMAN
AccessioniPrimary (citable) accession number: Q3BBV0
Secondary accession number(s): Q8N4E8, Q9C0H0, S4R3K2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: March 28, 2018
Last modified: November 7, 2018
This is version 92 of the entry and version 2 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

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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