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NPIPB4 nuclear pore complex interacting protein family member B4 [ Homo sapiens (human) ]

Gene ID: 440345, updated on 3-Apr-2024

Summary

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Official Symbol
NPIPB4provided by HGNC
Official Full Name
nuclear pore complex interacting protein family member B4provided by HGNC
Primary source
HGNC:HGNC:41985
See related
Ensembl:ENSG00000185864 AllianceGenome:HGNC:41985
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
61E3.4
Summary
Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 29.6), bone marrow (RPKM 21.2) and 24 other tissues See more
Orthologs
all
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Genomic context

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Location:
16p12.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (21834582..21857756, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (22359822..22382362)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (21845903..21869077, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371126 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:21801669-21802169 Neighboring gene RRN3 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:21830990-21831795 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:21831796-21832600 Neighboring gene uncharacterized LOC112268174 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:21875652-21876336 Neighboring gene small nucleolar RNA U13 Neighboring gene SMG1 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21945923-21946424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21946425-21946924 Neighboring gene ABCA3 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. Nagase T, et al. DNA Res, 1996 Oct 31. PMID 9039502
  2. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Loftus BJ, et al. Genomics, 1999 Sep 15. PMID 10493829
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Homology

Clone Names

  • KIAA0220

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
nuclear pore complex-interacting protein family member B4; LOW QUALITY PROTEIN: nuclear pore complex-interacting protein family member B4
Names
nuclear pore complex interacting protein-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001310148.2 → NP_001297077.1  nuclear pore complex-interacting protein family member B4 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-3 all encode the same isoform (a).
    Source sequence(s)
    AC092375
    Consensus CDS
    CCDS92123.1
    UniProtKB/TrEMBL
    A0A804HK81
    Conserved Domains (3) summary
    PHA03307
    Location:955 → 1220
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam06409
    Location:46 → 303
    NPIP; Nuclear pore complex interacting protein (NPIP)
    cl17068
    Location:2 → 41
    AFD_class_I; Adenylate forming domain, Class I superfamily

  2. NM_001384979.1 → NP_001371908.1  nuclear pore complex-interacting protein family member B4 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 all encode the same isoform (a).
    Source sequence(s)
    AC092375
    Consensus CDS
    CCDS92123.1
    UniProtKB/TrEMBL
    A0A804HK81
    Conserved Domains (3) summary
    PHA03307
    Location:955 → 1220
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam06409
    Location:46 → 303
    NPIP; Nuclear pore complex interacting protein (NPIP)
    cl17068
    Location:2 → 41
    AFD_class_I; Adenylate forming domain, Class I superfamily

  3. NM_001384980.1 → NP_001371909.1  nuclear pore complex-interacting protein family member B4 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-3 all encode the same isoform (a).
    Source sequence(s)
    AC092375
    Consensus CDS
    CCDS92123.1
    UniProtKB/TrEMBL
    A0A804HK81
    Related
    ENSP00000507812.1, ENST00000682606.1
    Conserved Domains (3) summary
    PHA03307
    Location:955 → 1220
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam06409
    Location:46 → 303
    NPIP; Nuclear pore complex interacting protein (NPIP)
    cl17068
    Location:2 → 41
    AFD_class_I; Adenylate forming domain, Class I superfamily

  4. NM_001384981.1 → NP_001371910.1  nuclear pore complex-interacting protein family member B4 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC092375
    Conserved Domains (2) summary
    PHA03307
    Location:952 → 1219
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam06409
    Location:43 → 300
    NPIP; Nuclear pore complex interacting protein (NPIP)

  5. NM_001384982.1 → NP_001371911.1  nuclear pore complex-interacting protein family member B4 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC092375
    Conserved Domains (2) summary
    PHA03307
    Location:936 → 1201
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam06409
    Location:27 → 284
    NPIP; Nuclear pore complex interacting protein (NPIP)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    21834582..21857756 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450286.2 → XP_024306054.2  nuclear pore complex-interacting protein family member B4 isoform X10

  2. XM_024450289.2 → XP_024306057.1  nuclear pore complex-interacting protein family member B4 isoform X8

    Conserved Domains (3) summary
    pfam06409
    Location:41 → 221
    NPIP; Nuclear pore complex interacting protein (NPIP)
    cl17068
    Location:1 → 41
    AFD_class_I; Adenylate forming domain, Class I superfamily
    cl28033
    Location:703 → 928
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

  3. XM_017023247.2 → XP_016878736.1  nuclear pore complex-interacting protein family member B4 isoform X6

  4. XM_024450285.2 → XP_024306053.1  nuclear pore complex-interacting protein family member B4 isoform X5

    Conserved Domains (3) summary
    pfam06409
    Location:41 → 221
    NPIP; Nuclear pore complex interacting protein (NPIP)
    cl17068
    Location:1 → 41
    AFD_class_I; Adenylate forming domain, Class I superfamily
    cl28033
    Location:880 → 1140
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

  5. XM_024450283.2 → XP_024306051.1  nuclear pore complex-interacting protein family member B4 isoform X1

    Conserved Domains (3) summary
    pfam06409
    Location:70 → 250
    NPIP; Nuclear pore complex interacting protein (NPIP)
    cl17068
    Location:1 → 41
    AFD_class_I; Adenylate forming domain, Class I superfamily
    cl28033
    Location:984 → 1249
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

  6. XM_047434156.1 → XP_047290112.1  nuclear pore complex-interacting protein family member B4 isoform X2

  7. XM_047434158.1 → XP_047290114.1  nuclear pore complex-interacting protein family member B4 isoform X4

  8. XM_047434157.1 → XP_047290113.1  nuclear pore complex-interacting protein family member B4 isoform X3

  9. XM_024450288.2 → XP_024306056.1  nuclear pore complex-interacting protein family member B4 isoform X7

    Conserved Domains (2) summary
    pfam06409
    Location:1 → 38
    NPIP; Nuclear pore complex interacting protein (NPIP)
    cl28033
    Location:772 → 1039
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

  10. XM_047434159.1 → XP_047290115.1  nuclear pore complex-interacting protein family member B4 isoform X9

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_017852933.1 Reference GRCh38.p14 PATCHES

    Range
    1247282..1270193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    22359822..22382362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446682.1 → XP_047302638.1  LOW QUALITY PROTEIN: nuclear pore complex-interacting protein family member B4 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
C9JG80.2 GenPept UniProtKB/Swiss-Prot:C9JG80

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