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

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 act upstream of or within several processes, including chemical synaptic transmission; synapse assembly; and visual perception. Predicted to be located in dendrite and excitatory synapse. Predicted to be active in several cellular components, including axon terminus; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in liver (RPKM 1.3), kidney (RPKM 0.9) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p22.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (1666064..1747946)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (1778588..1860511)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (1705700..1787582)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ELFN1 is a new extracellular matrix (ECM)-associated protein.
Title: ELFN1 is a new extracellular matrix (ECM)-associated protein.
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.
Title: Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.
the binding specificity of ELFN1 and found it to be recruited selectively to all group III mGluRs (mGluR4, mGluR6, mGluR7, and mGluR8), but not other mGluR species.
Title: Synaptic adhesion protein ELFN1 is a selective allosteric modulator of group III metabotropic glutamate receptors in trans.
Damaging missense mutations of ELFN1, that are clustered in the carboxy-terminal region required for mGluR7 recruitment, are found in patients with epilepsy and attention deficit hyperactivity disorder.
Title: Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69569 (e-PCR)
- UniSTS:85125

RH91931 (e-PCR)
- UniSTS:87977

RH102639 (e-PCR)
- UniSTS:96973

RH48889 (e-PCR)
- UniSTS:28642

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 chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in establishment of protein localization	IEA Inferred from Electronic Annotation more info
involved_in synapse assembly	IEA Inferred from Electronic Annotation more info
involved_in synapse organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic membrane adhesion	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon terminus	IEA Inferred from Electronic Annotation more info
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
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info

General protein information

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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)

NM_001128636.4 → NP_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:162 → 256

PCC; polycystin cation channel protein

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat
NM_001394187.1 → NP_001381116.1 protein ELFN1 precursor

Status: VALIDATED

Source sequence(s)

AC074389

Consensus CDS

CCDS59046.1

UniProtKB/Swiss-Prot

H3BS57, P0C7U0

Related

ENSP00000510296.1, ENST00000691883.1

Conserved Domains (3) summary

TIGR00864
Location:162 → 256

PCC; polycystin cation channel protein

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat
NM_001394188.1 → NP_001381117.1 protein ELFN1 precursor

Status: VALIDATED

Source sequence(s)

AC074389

Consensus CDS

CCDS59046.1

UniProtKB/Swiss-Prot

H3BS57, P0C7U0

Conserved Domains (3) summary

TIGR00864
Location:162 → 256

PCC; polycystin cation channel protein

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

1666064..1747946

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006715725.4 → XP_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:162 → 256

PCC; polycystin cation channel protein

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat
XM_047420363.1 → XP_047276319.1 protein ELFN1 isoform X1

UniProtKB/Swiss-Prot

H3BS57, P0C7U0
XM_047420362.1 → XP_047276318.1 protein ELFN1 isoform X1

UniProtKB/Swiss-Prot

H3BS57, P0C7U0
XM_011515398.3 → XP_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:162 → 256

PCC; polycystin cation channel protein

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat
XM_006715727.4 → XP_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:162 → 256

PCC; polycystin cation channel protein

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat
XM_011515401.3 → XP_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:162 → 256

PCC; polycystin cation channel protein

sd00031
Location:65 → 85

LRR_1; leucine-rich repeat [structural motif]

pfam13855
Location:85 → 144

LRR_8; Leucine rich repeat