NPIPB11 (nuclear pore complex interacting protein family member B11) - Rat Genome Database

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Gene: NPIPB11 (nuclear pore complex interacting protein family member B11) Homo sapiens
Analyze
Symbol: NPIPB11
Name: nuclear pore complex interacting protein family member B11
RGD ID: 7246504
HGNC Page HGNC:37453
Description: Predicted to act upstream of or within prevention of polyspermy. Predicted to be located in external side of plasma membrane and sperm head plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: NPIP; NPIP-like locus; nuclear pore complex interacting protein family, member B11; Nuclear pore complex-interacting protein family member B11
RGD Orthologs
Mouse
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381629,381,167 - 29,406,711 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1629,381,310 - 29,406,711 (-)EnsemblGRCh38hg38GRCh38
GRCh371629,392,631 - 29,418,032 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,300,268 - 29,322,624 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map16p11.2NCBI
CHM1_11630,404,474 - 30,433,500 (-)NCBICHM1_1
T2T-CHM13v2.01629,663,351 - 29,688,504 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Autistic behavior  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:15616553   PMID:21873635   PMID:36543142  


Genomics

Comparative Map Data
NPIPB11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381629,381,167 - 29,406,711 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1629,381,310 - 29,406,711 (-)EnsemblGRCh38hg38GRCh38
GRCh371629,392,631 - 29,418,032 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361629,300,268 - 29,322,624 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map16p11.2NCBI
CHM1_11630,404,474 - 30,433,500 (-)NCBICHM1_1
T2T-CHM13v2.01629,663,351 - 29,688,504 (-)NCBIT2T-CHM13v2.0
Adam24
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39841,128,118 - 41,135,238 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl841,128,118 - 41,135,238 (+)EnsemblGRCm39 Ensembl
GRCm38840,675,077 - 40,682,199 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl840,675,077 - 40,682,199 (+)EnsemblGRCm38mm10GRCm38
MGSCv37841,760,448 - 41,767,553 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36842,173,911 - 42,181,016 (+)NCBIMGSCv36mm8
Celera843,321,556 - 43,328,596 (+)NCBICelera
Cytogenetic Map8A4NCBI
cM Map823.89NCBI

Variants

.
Variants in NPIPB11
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3 copy number gain See cases [RCV000135765] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3 copy number gain See cases [RCV000136065] Chr16:29318115..30179272 [GRCh38]
Chr16:29329436..30190593 [GRCh37]
Chr16:29236937..30098094 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1 copy number loss See cases [RCV000137580] Chr16:28392832..30186020 [GRCh38]
Chr16:28404153..30197341 [GRCh37]
Chr16:28311654..30104842 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3 copy number gain See cases [RCV000138501] Chr16:29318115..30321248 [GRCh38]
Chr16:29329436..30332569 [GRCh37]
Chr16:29236937..30240070 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1 copy number loss See cases [RCV000139916] Chr16:28392832..30320693 [GRCh38]
Chr16:28404153..30332014 [GRCh37]
Chr16:28311654..30239515 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3 copy number gain See cases [RCV000141716] Chr16:28320366..29415078 [GRCh38]
Chr16:28331687..29426399 [GRCh37]
Chr16:28239188..29333900 [NCBI36]
Chr16:16p12.1-11.2
uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000148148] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3 copy number gain See cases [RCV000148119] Chr16:29170820..30179247 [GRCh38]
Chr16:29182141..30190568 [GRCh37]
Chr16:29089642..30098069 [NCBI36]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 copy number gain See cases [RCV000148125] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 copy number loss See cases [RCV000148095] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 copy number gain See cases [RCV000050652] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 copy number loss See cases [RCV000050653] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1 copy number loss See cases [RCV000052520] Chr16:28456967..30295107 [GRCh38]
Chr16:28468288..30306428 [GRCh37]
Chr16:28375789..30213929 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3 copy number gain See cases [RCV000053118] Chr16:28293803..29531653 [GRCh38]
Chr16:28305124..29542974 [GRCh37]
Chr16:28212625..29450475 [NCBI36]
Chr16:16p12.1-11.2
uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000054252] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1 copy number loss See cases [RCV000054253] Chr16:28531783..30183432 [GRCh38]
Chr16:28543104..30194753 [GRCh37]
Chr16:28450605..30102254 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3 copy number gain See cases [RCV000054346] Chr16:28366111..30183432 [GRCh38]
Chr16:28377432..30194753 [GRCh37]
Chr16:28284933..30102254 [NCBI36]
Chr16:16p12.1-11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29086504-30333716)x3 copy number gain See cases [RCV000054347] Chr16:29086504..30333716 [GRCh38]
Chr16:29097825..30345037 [GRCh37]
Chr16:29005326..30252538 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29170620-30179388)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054348]|See cases [RCV000054348] Chr16:29170620..30179388 [GRCh38]
Chr16:29181941..30190709 [GRCh37]
Chr16:29089442..30098210 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3 copy number gain See cases [RCV000054364] Chr16:29170820..30179247 [GRCh38]
Chr16:29182141..30190568 [GRCh37]
Chr16:29089642..30098069 [NCBI36]
Chr16:16p11.2
pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227072-30179388)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054365]|Global developmental delay [RCV000054366]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054365]|See cases [RCV000054365] Chr16:29227072..30179388 [GRCh38]
Chr16:29238393..30190709 [GRCh37]
Chr16:29145894..30098210 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30321260)x3 copy number gain See cases [RCV000051168] Chr16:29227272..30321260 [GRCh38]
Chr16:29238593..30332581 [GRCh37]
Chr16:29146094..30240082 [NCBI36]
Chr16:16p11.2
pathogenic|uncertain significance
NC_000016.10:g.(?_29390980)_(30215610_?)dup duplication Autism spectrum disorder [RCV000208728] Chr16:29390980..30215610 [GRCh38]
Chr16:29402301..30226931 [GRCh37]
Chr16:16p11.2
likely pathogenic
Single allele duplication Autism [RCV000754182] Chr16:29401125..30312960 [GRCh38]
Chr16:16p11.2
pathogenic
NM_001310137.5(NPIPB11):c.1659G>C (p.Ala553=) single nucleotide variant not provided [RCV003456925] Chr16:29383273 [GRCh38]
Chr16:29394594 [GRCh37]
Chr16:16p11.2
likely benign
NM_001310137.5(NPIPB11):c.1808C>G (p.Pro603Arg) single nucleotide variant not provided [RCV003419271] Chr16:29383124 [GRCh38]
Chr16:29394445 [GRCh37]
Chr16:16p11.2
likely benign
NM_001310137.5(NPIPB11):c.1431T>C (p.Ser477=) single nucleotide variant not provided [RCV003426648] Chr16:29383501 [GRCh38]
Chr16:29394822 [GRCh37]
Chr16:16p11.2
likely benign
GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV003883244] Chr16:29329272..30178707 [GRCh38]
Chr16:16p11.2
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:102
Count of miRNA genes:101
Interacting mature miRNAs:101
Transcripts:ENST00000524087
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2430 2788 2244 4938 1713 2325 4 614 1899 456 2264 7214 6401 51 3708 841 1727 1602 171

Sequence


Ensembl Acc Id: ENST00000524087   ⟹   ENSP00000430853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,381,354 - 29,404,029 (-)Ensembl
Ensembl Acc Id: ENST00000614927   ⟹   ENSP00000479201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,385,034 - 29,397,696 (-)Ensembl
Ensembl Acc Id: ENST00000698511   ⟹   ENSP00000513761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1629,381,310 - 29,406,711 (-)Ensembl
RefSeq Acc Id: NM_001310137   ⟹   NP_001297066
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,381,310 - 29,406,711 (-)NCBI
T2T-CHM13v2.01629,663,351 - 29,688,504 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047434576   ⟹   XP_047290532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,381,167 - 29,403,802 (-)NCBI
RefSeq Acc Id: XM_047434577   ⟹   XP_047290533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,381,169 - 29,403,802 (-)NCBI
RefSeq Acc Id: XM_047434578   ⟹   XP_047290534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,381,169 - 29,398,851 (-)NCBI
RefSeq Acc Id: NP_001297066   ⟸   NM_001310137
- UniProtKB: E5RHQ5 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000479201   ⟸   ENST00000614927
Ensembl Acc Id: ENSP00000430853   ⟸   ENST00000524087
RefSeq Acc Id: XP_047290532   ⟸   XM_047434576
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047290533   ⟸   XM_047434577
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047290534   ⟸   XM_047434578
- Peptide Label: isoform X3
Ensembl Acc Id: ENSP00000513761   ⟸   ENST00000698511
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-E5RHQ5-F1-model_v2 AlphaFold E5RHQ5 1-1161 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC NPIPB11 COSMIC
Ensembl Genes ENSG00000254206 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000284454 UniProtKB/TrEMBL
Ensembl Transcript ENST00000524087.5 UniProtKB/Swiss-Prot
  ENST00000614927.1 UniProtKB/TrEMBL
  ENST00000639127.1 UniProtKB/TrEMBL
  ENST00000644019.1 UniProtKB/TrEMBL
  ENST00000644668.1 UniProtKB/TrEMBL
  ENST00000645293.1 UniProtKB/TrEMBL
  ENST00000698511 ENTREZGENE
  ENST00000698511.1 UniProtKB/Swiss-Prot
GTEx ENSG00000254206 GTEx
  ENSG00000284454 GTEx
HGNC ID HGNC:37453 ENTREZGENE
Human Proteome Map NPIPB11 Human Proteome Map
InterPro NPB13-like_MII_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPIP_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene NPIPB11 ENTREZGENE
PANTHER NUCLEAR PORE COMPLEX-INTERACTING PROTEIN FAMILY MEMBER B11-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15438 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15438:SF11 UniProtKB/TrEMBL
Pfam NPB13-l_MII_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166123720 PharmGKB
UniProt A0A087WV59_HUMAN UniProtKB/TrEMBL
  A0AAG2TF21_HUMAN UniProtKB/TrEMBL
  A0AAG2TK56_HUMAN UniProtKB/TrEMBL
  E5RHQ5 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NPIPB11  nuclear pore complex interacting protein family member B11    nuclear pore complex interacting protein family, member B11  Symbol and/or name change 5135510 APPROVED