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ELFN1 extracellular leucine rich repeat and fibronectin type III domain containing 1 [ Homo sapiens (human) ]

Gene ID: 392617, updated on 26-Oct-2022

Summary

Official Symbol
ELFN1provided by HGNC
Official Full Name
extracellular leucine rich repeat and fibronectin type III domain containing 1provided by HGNC
Primary source
HGNC:HGNC:33154
See related
Ensembl:ENSG00000225968 MIM:614964; AllianceGenome:HGNC:33154
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
PPP1R28
Summary
Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in synapse organization. Predicted to be located in dendrite and excitatory synapse. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in liver (RPKM 1.3), kidney (RPKM 0.9) and 14 other tissues See more
Orthologs
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Genomic context

See ELFN1 in Genome Data Viewer
Location:
7p22.3
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (1666064..1747946)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (1778588..1860511)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (1705700..1787582)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375303 Neighboring gene transcription factor A, mitochondrial pseudogene 1 Neighboring gene uncharacterized LOC124901819 Neighboring gene uncharacterized LOC105375124 Neighboring gene lncRNA radiation induced regulator of PLK1 and RAD51 Neighboring gene ELFN1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13438 Neighboring gene uncharacterized LOC100127955 Neighboring gene mitotic arrest deficient 1 like 1 Neighboring gene microRNA 4655

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein phosphatase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in synapse organization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in excitatory synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein ELFN1
Names
extracellular leucine-rich repeat and fibronectin type III containing 1
extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1
protein phosphatase 1 regulatory subunit 28

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_001128636.4NP_001122108.1  protein ELFN1 precursor

    See identical proteins and their annotated locations for NP_001122108.1

    Status: VALIDATED

    Source sequence(s)
    AC074389
    Consensus CDS
    CCDS59046.1
    UniProtKB/Swiss-Prot
    H3BS57, P0C7U0
    Related
    ENSP00000456548.1, ENST00000424383.5
    Conserved Domains (3) summary
    TIGR00864
    Location:162256
    PCC; polycystin cation channel protein
    sd00031
    Location:6585
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:85144
    LRR_8; Leucine rich repeat
  2. NM_001394187.1NP_001381116.1  protein ELFN1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC074389
    Consensus CDS
    CCDS59046.1
    UniProtKB/Swiss-Prot
    H3BS57
    Related
    ENSP00000510296.1, ENST00000691883.1
    Conserved Domains (3) summary
    TIGR00864
    Location:162256
    PCC; polycystin cation channel protein
    sd00031
    Location:6585
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:85144
    LRR_8; Leucine rich repeat
  3. NM_001394188.1NP_001381117.1  protein ELFN1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC074389
    Consensus CDS
    CCDS59046.1
    UniProtKB/Swiss-Prot
    H3BS57
    Conserved Domains (3) summary
    TIGR00864
    Location:162256
    PCC; polycystin cation channel protein
    sd00031
    Location:6585
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:85144
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    1666064..1747946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715725.4XP_006715788.1  protein ELFN1 isoform X1

    See identical proteins and their annotated locations for XP_006715788.1

    UniProtKB/Swiss-Prot
    H3BS57, P0C7U0
    Related
    ENSP00000457193.1, ENST00000561626.4
    Conserved Domains (3) summary
    TIGR00864
    Location:162256
    PCC; polycystin cation channel protein
    sd00031
    Location:6585
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:85144
    LRR_8; Leucine rich repeat
  2. XM_047420363.1XP_047276319.1  protein ELFN1 isoform X1

    UniProtKB/Swiss-Prot
    H3BS57
  3. XM_047420362.1XP_047276318.1  protein ELFN1 isoform X1

    UniProtKB/Swiss-Prot
    H3BS57
  4. XM_011515398.3XP_011513700.1  protein ELFN1 isoform X1

    See identical proteins and their annotated locations for XP_011513700.1

    UniProtKB/Swiss-Prot
    H3BS57, P0C7U0
    Conserved Domains (3) summary
    TIGR00864
    Location:162256
    PCC; polycystin cation channel protein
    sd00031
    Location:6585
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:85144
    LRR_8; Leucine rich repeat
  5. XM_006715727.4XP_006715790.1  protein ELFN1 isoform X1

    See identical proteins and their annotated locations for XP_006715790.1

    UniProtKB/Swiss-Prot
    H3BS57, P0C7U0
    Conserved Domains (3) summary
    TIGR00864
    Location:162256
    PCC; polycystin cation channel protein
    sd00031
    Location:6585
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:85144
    LRR_8; Leucine rich repeat
  6. XM_011515401.3XP_011513703.1  protein ELFN1 isoform X1

    See identical proteins and their annotated locations for XP_011513703.1

    UniProtKB/Swiss-Prot
    H3BS57, P0C7U0
    Conserved Domains (3) summary
    TIGR00864
    Location:162256
    PCC; polycystin cation channel protein
    sd00031
    Location:6585
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:85144
    LRR_8; Leucine rich repeat

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    1778588..1860511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)