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NPNT nephronectin [ Homo sapiens (human) ]

Gene ID: 255743, updated on 1-Jun-2020

Summary

Official Symbol
NPNTprovided by HGNC
Official Full Name
nephronectinprovided by HGNC
Primary source
HGNC:HGNC:27405
See related
Ensembl:ENSG00000168743 MIM:610306
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
POEM; EGFL6L
Expression
Biased expression in thyroid (RPKM 91.1), lung (RPKM 60.2) and 10 other tissues See more
Orthologs

Genomic context

See NPNT in Genome Data Viewer
Location:
4q24
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (105895453..105971671)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (106816588..106892828)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene glutathione S-transferase C-terminal domain containing Neighboring gene uncharacterized LOC107986190 Neighboring gene GSTCD antisense RNA 1 Neighboring gene uncharacterized LOC101929577 Neighboring gene Sharpr-MPRA regulatory region 11278

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
integrin binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
integrin binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
branching involved in ureteric bud morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cell-cell adhesion mediated by integrin ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cell-matrix adhesion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cellular response to tumor necrosis factor ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
establishment of protein localization IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
pilomotor reflex IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ERK1 and ERK2 cascade ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of alkaline phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell-substrate adhesion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
ureteric bud development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
basement membrane IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
collagen-containing extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome HDA PubMed 
extracellular region ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
integrin alpha8-beta1 complex IEA
Inferred from Electronic Annotation
more info
 
smooth muscle contractile fiber IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
nephronectin
Names
preosteoblast EGF-like repeat protein with MAM domain

NCBI Reference Sequences (RefSeq)

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_001033047.3NP_001028219.1  nephronectin isoform B precursor

    See identical proteins and their annotated locations for NP_001028219.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1, and encodes a shorter protein (isoform B), compared to isoform A. This variant is also known as isoform 1.
    Source sequence(s)
    AC109361, AK290029, AK295772, AW607534
    Consensus CDS
    CCDS34046.1
    UniProtKB/Swiss-Prot
    Q6UXI9
    Related
    ENSP00000369323.2, ENST00000379987.6
    Conserved Domains (5) summary
    cd06263
    Location:422561
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    pfam00629
    Location:422563
    MAM; MAM domain, meprin/A5/mu
    pfam12662
    Location:150172
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:218253
    EGF_3; EGF domain
    cl00057
    Location:164204
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  2. NM_001184690.2NP_001171619.1  nephronectin isoform A precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes a protein (isoform A) of 582 amino acids.
    Source sequence(s)
    AC109361, AK295772, AW607534
    Consensus CDS
    CCDS54784.1
    UniProtKB/Swiss-Prot
    Q6UXI9
    Related
    ENSP00000402884.2, ENST00000453617.6
    Conserved Domains (6) summary
    cd06263
    Location:439578
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    pfam00629
    Location:439580
    MAM; MAM domain, meprin/A5/mu
    pfam07645
    Location:186218
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:167189
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:235270
    EGF_3; EGF domain
    cl00057
    Location:100142
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  3. NM_001184691.2NP_001171620.1  nephronectin isoform C precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences in the presence/absence of in-frame exons in the 5' coding region, compared to variant 1, and encodes a longer protein (isoform C), compared to isoform A.
    Source sequence(s)
    AC109361, AK295772, AK302477, AW607534
    Consensus CDS
    CCDS54785.1
    UniProtKB/Swiss-Prot
    Q6UXI9
    Related
    ENSP00000389252.2, ENST00000427316.6
    Conserved Domains (6) summary
    cd06263
    Location:452591
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    pfam00629
    Location:452593
    MAM; MAM domain, meprin/A5/mu
    pfam07645
    Location:199231
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:180202
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:248283
    EGF_3; EGF domain
    pfam14670
    Location:123157
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  4. NM_001184692.2NP_001171621.1  nephronectin isoform D precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks multiple in-frame exons in the coding region, compared to variant 1, and encodes a shorter protein (isoform D), compared to isoform A.
    Source sequence(s)
    AC109361, AK304279, AK304721, AW607534
    Consensus CDS
    CCDS54787.1
    UniProtKB/Swiss-Prot
    Q6UXI9
    Related
    ENSP00000422044.1, ENST00000514622.5
    Conserved Domains (5) summary
    cd06263
    Location:393532
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    pfam00629
    Location:393534
    MAM; MAM domain, meprin/A5/mu
    pfam12662
    Location:150172
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:218253
    EGF_3; EGF domain
    cl00057
    Location:164204
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  5. NM_001184693.2NP_001171622.1  nephronectin isoform E precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has multiple differences in the presence/absence of in-frame exons in the coding region, compared to variant 1, and encodes a shorter protein (isoform E), compared to isoform A.
    Source sequence(s)
    AC109361, AK295772, AK304721, AW607534
    Consensus CDS
    CCDS54786.1
    UniProtKB/Swiss-Prot
    Q6UXI9
    Related
    ENSP00000422474.1, ENST00000506666.5
    Conserved Domains (6) summary
    cd06263
    Location:423562
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    pfam00629
    Location:423564
    MAM; MAM domain, meprin/A5/mu
    pfam12662
    Location:180202
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:248283
    EGF_3; EGF domain
    pfam14670
    Location:123157
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:194234
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    105895453..105971671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531820.2XP_011530122.1  nephronectin isoform X1

    Conserved Domains (6) summary
    cd06263
    Location:470609
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    pfam00629
    Location:470611
    MAM; MAM domain, meprin/A5/mu
    pfam07645
    Location:217249
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:198220
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:266301
    EGF_3; EGF domain
    pfam14670
    Location:141175
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  2. XM_017007984.1XP_016863473.1  nephronectin isoform X7

    Related
    ENSP00000427507.1, ENST00000514837.1
  3. XM_011531823.2XP_011530125.1  nephronectin isoform X4

    Conserved Domains (6) summary
    cd06263
    Location:441580
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    pfam00629
    Location:441582
    MAM; MAM domain, meprin/A5/mu
    pfam07645
    Location:217249
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:198220
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:266301
    EGF_3; EGF domain
    pfam14670
    Location:141175
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  4. XM_011531824.2XP_011530126.1  nephronectin isoform X5

    Conserved Domains (6) summary
    cd06263
    Location:440579
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    pfam00629
    Location:440581
    MAM; MAM domain, meprin/A5/mu
    pfam07645
    Location:187219
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:168190
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:236271
    EGF_3; EGF domain
    cl00057
    Location:101143
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  5. XM_011531822.2XP_011530124.1  nephronectin isoform X3

    Conserved Domains (6) summary
    cd06263
    Location:453592
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    pfam00629
    Location:453594
    MAM; MAM domain, meprin/A5/mu
    pfam07645
    Location:200232
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:181203
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:249284
    EGF_3; EGF domain
    pfam14670
    Location:124158
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  6. XM_011531825.2XP_011530127.1  nephronectin isoform X6

    Conserved Domains (5) summary
    cd06263
    Location:423562
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    pfam00629
    Location:423564
    MAM; MAM domain, meprin/A5/mu
    pfam12662
    Location:151173
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:219254
    EGF_3; EGF domain
    cl00057
    Location:165205
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  7. XM_005262888.4XP_005262945.1  nephronectin isoform X2

    Related
    ENSP00000426146.1, ENST00000503451.5
    Conserved Domains (6) summary
    cd06263
    Location:469608
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    pfam00629
    Location:469610
    MAM; MAM domain, meprin/A5/mu
    pfam07645
    Location:216248
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:197219
    cEGF; Complement Clr-like EGF-like
    pfam12947
    Location:265300
    EGF_3; EGF domain
    pfam14670
    Location:140174
    FXa_inhibition; Coagulation Factor Xa inhibitory site

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_198278.1: Suppressed sequence

    Description
    NM_198278.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
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