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    EGFLAM EGF like, fibronectin type III and laminin G domains [ Homo sapiens (human) ]

    Gene ID: 133584, updated on 17-Jun-2019

    Summary

    Official Symbol
    EGFLAMprovided by HGNC
    Official Full Name
    EGF like, fibronectin type III and laminin G domainsprovided by HGNC
    Primary source
    HGNC:HGNC:26810
    See related
    Ensembl:ENSG00000164318 MIM:617683
    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
    PIKA; AGRNL; AGRINL
    Expression
    Broad expression in placenta (RPKM 12.2), fat (RPKM 7.7) and 17 other tissues See more
    Orthologs

    Genomic context

    See EGFLAM in Genome Data Viewer
    Location:
    5p13.2-p13.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (38258559..38465480)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (38258511..38465582)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2107 Neighboring gene long intergenic non-protein coding RNA 2119 Neighboring gene peroxiredoxin 4 pseudogene 2 Neighboring gene EGFLAM antisense RNA 4 Neighboring gene Sharpr-MPRA regulatory region 7458 Neighboring gene EGFLAM antisense RNA 2 Neighboring gene 60S ribosomal protein L27 pseudogene Neighboring gene uncharacterized LOC105374732 Neighboring gene LIF receptor subunit alpha Neighboring gene uncharacterized LOC105374735 Neighboring gene LIFR antisense RNA 1 Neighboring gene microRNA 3650

    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 FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ39155

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    glycosaminoglycan binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    animal organ morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    substrate adhesion-dependent cell spreading IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    basement membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    interstitial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pikachurin
    Names
    EGF-like, fibronectin type-III and laminin G-like domain-containing protein
    agrin-like protein

    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_001205301.2NP_001192230.1  pikachurin isoform 5 precursor

      See identical proteins and their annotated locations for NP_001192230.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate in-frame exon in the coding region, compared to variant 1. The encoded isoform (5) is longer than isoform 1.
      Source sequence(s)
      AC010338, AC010457, AC091839
      Consensus CDS
      CCDS56363.1
      UniProtKB/Swiss-Prot
      Q63HQ2
      Related
      ENSP00000346964.3, ENST00000354891.7
      Conserved Domains (4) summary
      cd00054
      Location:792820
      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 ...
      cd00063
      Location:36133
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00110
      Location:391541
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam02210
      Location:868993
      Laminin_G_2; Laminin G domain
    2. NM_152403.4NP_689616.2  pikachurin isoform 1 precursor

      See identical proteins and their annotated locations for NP_689616.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC010338, AC010457, AC091839
      Consensus CDS
      CCDS3924.1
      UniProtKB/Swiss-Prot
      Q63HQ2
      Related
      ENSP00000313084.5, ENST00000322350.10
      Conserved Domains (4) summary
      cd00054
      Location:792820
      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 ...
      cd00063
      Location:36133
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00110
      Location:391541
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam02210
      Location:860985
      Laminin_G_2; Laminin G domain
    3. NM_182798.3NP_877950.1  pikachurin isoform 2

      See identical proteins and their annotated locations for NP_877950.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC010457, AC091839, AK097549
      Consensus CDS
      CCDS3925.1
      UniProtKB/Swiss-Prot
      Q63HQ2
      Related
      ENSP00000337607.6, ENST00000336740.10
      Conserved Domains (3) summary
      cd00054
      Location:558586
      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 ...
      cd00110
      Location:157307
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam02210
      Location:626751
      Laminin_G_2; Laminin G domain
    4. NM_182801.3NP_877953.1  pikachurin isoform 4

      See identical proteins and their annotated locations for NP_877953.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC010457, BC033188, DN995271
      Consensus CDS
      CCDS47199.1
      UniProtKB/Swiss-Prot
      Q63HQ2
      Related
      ENSP00000380393.3, ENST00000397210.7
      Conserved Domains (1) summary
      pfam02210
      Location:3128
      Laminin_G_2; Laminin G domain

    RefSeqs of Annotated Genomes: Homo sapiens 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_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      38258559..38465480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182799.1: Suppressed sequence

      Description
      NM_182799.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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