LIN7A lin-7 homolog A, crumbs cell polarity complex component [Homo sapiens (human)] - Gene

Summary

Official Symbol: LIN7Aprovided by HGNC
Official Full Name: lin-7 homolog A, crumbs cell polarity complex componentprovided by HGNC
Primary source: HGNC:HGNC:17787
See related: Ensembl:ENSG00000111052 MIM:603380; AllianceGenome:HGNC:17787
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LIN7; MALS1; VELI1; LIN-7A; MALS-1; TIP-33
Summary: The protein encoded by this gene is involved in generating and maintaining the asymmetric distribution of channels and receptors at the cell membrane. The encoded protein also is required for the localization of some specific channels and can be part of a protein complex that couples synaptic vesicle exocytosis to cell adhesion in the brain. [provided by RefSeq, May 2016]
Expression: Broad expression in bone marrow (RPKM 7.9), brain (RPKM 5.7) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q21.31

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (80792520..80937934, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (80771214..80916777, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (81186299..81331713, complement)

Chromosome 12 - NC_000012.12 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miR-501-3p suppresses metastasis and progression of hepatocellular carcinoma through targeting LIN7A.
Title: microRNA-501-3p suppresses metastasis and progression of hepatocellular carcinoma through targeting LIN7A.
Overexpression of LIN7 or IRSp53 did not prevent the formation of hyperfused mitochondria in cells coexpressing the Drp1 K38A mutant, thus suggesting that LIN7-IRSp53 complex requires functional Drp1 to regulate mitochondrial morphology.
Title: Novel localisation and possible function of LIN7 and IRSp53 in mitochondria of HeLa cells.
This study therefore shows that LIN7A has a crucial role in the polarity abnormalities associated with breast carcinogenesis.
Title: LIN7A is a major determinant of cell-polarity defects in breast carcinomas.
LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome.
Title: LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Allelic and haplotype association was found between both BDNF and adult ADHD, and LIN-7 and adult ADHD.
Title: Association study of brain-derived neurotrophic factor (BDNF) and LIN-7 homolog (LIN-7) genes with adult attention-deficit/hyperactivity disorder.
coordinated folding and association of the LIN-2, -7 domain
Title: Coordinated folding and association of the LIN-2, -7 (L27) domain. An obligate heterodimerization involved in assembly of signaling and cell polarity complexes.
LIN7A is a PDZ protein that interacts with human papillomavirus-16 E6 and forms a tripartite complex with MPP7 and DLG1, regulating the stability and localization of DLG1 to cell junctions.
Title: The stardust family protein MPP7 forms a tripartite complex with LIN7 and DLG1 that regulates the stability and localization of DLG1 to cell junctions.

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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

EBI GWAS Catalog

Description
Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan of dental caries in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

G62497 (e-PCR)
- UniSTS:139555

RH46592 (e-PCR)
- UniSTS:90182

SHGC-142287 (e-PCR)
- UniSTS:171366

RH66117 (e-PCR)
- UniSTS:80012

G60266 (e-PCR)
- UniSTS:137371

G64269 (e-PCR)
- UniSTS:158645

SHGC-81706 (e-PCR)
- UniSTS:103888

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L27 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in exocytosis	IEA Inferred from Electronic Annotation more info
involved_in inner ear development	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in regulation of synaptic assembly at neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of MPP7-DLG1-LIN7 complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IEA Inferred from Electronic Annotation more info
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein lin-7 homolog A

Names: mammalian lin-seven protein 1; tax interaction protein 33; vertebrate LIN7 homolog 1

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.

Genomic

NG_050580.1 RefSeqGene

Range

4990..150404

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001324423.2 → NP_001311352.1 protein lin-7 homolog A isoform 2

Status: REVIEWED

Source sequence(s)

AC025568, AC068798, AC078886

Conserved Domains (1) summary

cd00992
Location:35 → 116

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_004664.4 → NP_004655.1 protein lin-7 homolog A isoform 1

See identical proteins and their annotated locations for NP_004655.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC025568, AC068798, AC078886

Consensus CDS

CCDS9021.1

UniProtKB/Swiss-Prot

A4FTY3, O14910, Q147W1, Q6LES3, Q7LDS4

Related

ENSP00000447488.1, ENST00000552864.6

Conserved Domains (2) summary

smart00569
Location:31 → 83

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd00992
Location:106 → 187

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...