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    NPNT nephronectin [ Homo sapiens (human) ]

    Gene ID: 255743, updated on 12-Jun-2016
    Official Symbol
    NPNTprovided by HGNC
    Official Full Name
    nephronectinprovided by HGNC
    Primary source
    HGNC:HGNC:27405
    See related
    Ensembl:ENSG00000168743 HPRD:14141; MIM:610306; Vega:OTTHUMG00000161189
    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
    Orthologs
    Location:
    4q24
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (105895440..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 uncharacterized LOC101929529 Neighboring gene uncharacterized LOC101929577 Neighboring gene TBC1 domain containing kinase Neighboring gene aminoacyl tRNA synthetase complex interacting multifunctional protein 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    integrin alpha8-beta1 complex IEA
    Inferred from Electronic Annotation
    more info
     
    proteinaceous extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    smooth muscle contractile fiber IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    nephronectin
    Names
    preosteoblast EGF-like repeat protein with MAM domain

    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_001033047.2NP_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, OTTHUMP00000219846, ENST00000379987, OTTHUMT00000364083
      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 ...
      cd00054
      Location:214249
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00629
      Location:422563
      MAM; MAM domain
      pfam12662
      Location:150172
      cEGF; Complement Clr-like EGF-like
      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_001184690.1NP_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, OTTHUMP00000219847, ENST00000453617, OTTHUMT00000364084
      Conserved Domains (5) 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 ...
      cd00054
      Location:231266
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00629
      Location:439580
      MAM; MAM domain
      pfam12662
      Location:167189
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:181221
      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_001184691.1NP_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, OTTHUMP00000219848, ENST00000427316, OTTHUMT00000364085
      Conserved Domains (5) 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 ...
      cd00054
      Location:244279
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00629
      Location:452593
      MAM; MAM domain
      pfam07645
      Location:199231
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:180202
      cEGF; Complement Clr-like EGF-like
    4. NM_001184692.1NP_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, AK295772, AK304279, AK304721, AW607534
      Consensus CDS
      CCDS54787.1
      UniProtKB/Swiss-Prot
      Q6UXI9
      Related
      ENSP00000422044, OTTHUMP00000219849, ENST00000514622, OTTHUMT00000364086
      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 ...
      cd00054
      Location:214249
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00629
      Location:393534
      MAM; MAM domain
      pfam12662
      Location:150172
      cEGF; Complement Clr-like EGF-like
      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_001184693.1NP_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, OTTHUMP00000219851, ENST00000506666, OTTHUMT00000364088
      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 ...
      cd00054
      Location:244279
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00629
      Location:423564
      MAM; MAM domain
      pfam12662
      Location:180202
      cEGF; Complement Clr-like EGF-like
      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 Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      105895440..105971671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531820.2XP_011530122.1  

      Conserved Domains (5) 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 ...
      cd00054
      Location:262297
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00629
      Location:470611
      MAM; MAM domain
      pfam07645
      Location:217249
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:198220
      cEGF; Complement Clr-like EGF-like
    2. XM_017007984.1XP_016863473.1  

      Related
      ENSP00000427507, OTTHUMP00000219852, ENST00000514837, OTTHUMT00000364090
    3. XM_011531823.2XP_011530125.1  

      Conserved Domains (5) 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 ...
      cd00054
      Location:262297
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00629
      Location:441582
      MAM; MAM domain
      pfam07645
      Location:217249
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:198220
      cEGF; Complement Clr-like EGF-like
    4. XM_011531824.2XP_011530126.1  

      Conserved Domains (5) 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 ...
      cd00054
      Location:232267
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00629
      Location:440581
      MAM; MAM domain
      pfam12662
      Location:168190
      cEGF; Complement Clr-like EGF-like
      cl00057
      Location:182222
      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  

      Conserved Domains (5) 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 ...
      cd00054
      Location:245280
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00629
      Location:453594
      MAM; MAM domain
      pfam07645
      Location:200232
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:181203
      cEGF; Complement Clr-like EGF-like
    6. XM_011531825.2XP_011530127.1  

      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 ...
      cd00054
      Location:215250
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00629
      Location:423564
      MAM; MAM domain
      pfam12662
      Location:151173
      cEGF; Complement Clr-like EGF-like
      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  

      Related
      ENSP00000426146, OTTHUMP00000219903, ENST00000503451, OTTHUMT00000364173
      Conserved Domains (5) 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 ...
      cd00054
      Location:261296
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00629
      Location:469610
      MAM; MAM domain
      pfam07645
      Location:216248
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:197219
      cEGF; Complement Clr-like EGF-like
    8. XM_005262890.1XP_005262947.1  

      Conserved Domains (5) summary
      cd06263
      Location:318457
      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 ...
      cd00054
      Location:110145
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00629
      Location:318459
      MAM; MAM domain
      pfam07645
      Location:6597
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:4668
      cEGF; Complement Clr-like EGF-like

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      106793392..106869624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.