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

Gene ID: 8825, updated on 22-Apr-2017
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; Vega:OTTHUMG00000170168
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; 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]
Orthologs
Location:
12q21.31
Exon count:
7
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (80792520..80937915, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (81191171..81331702, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene myogenic factor 5 Neighboring gene long intergenic non-protein coding RNA 1490 Neighboring gene tripartite motif-containing 75 pseudogene Neighboring gene microRNA 617 Neighboring gene uncharacterized LOC105369869 Neighboring gene uncharacterized LOC107987179 Neighboring gene microRNA 618 Neighboring gene uncharacterized LOC107984535 Neighboring gene acyl-CoA synthetase short-chain family member 3 Neighboring gene microRNA 4699

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.
NHGRI GWA Catalog
Genome-wide association scan of dental caries in the permanent dentition.
NHGRI GWA Catalog
  • Dopamine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Dopamine Neurotransmitter Release Cycle, organism-specific biosystemDopamine neurotransmitter cycle occurs in dopaminergic neurons. Dopamine is synthesized and loaded into the clathrin sculpted monoamine transport vesicles. The vesicles are docked, primed and fused w...
  • Interactions of neurexins and neuroligins at synapses, organism-specific biosystem (from REACTOME)
    Interactions of neurexins and neuroligins at synapses, organism-specific biosystemNeurexins (NRXNs) and neuroligins (NLGNs) are best characterized synaptic cell-adhesion molecules. They are part of excitatory glutamatergic and inhibitory GABAergic synapses in mammalian brain, medi...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
  • Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
    Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC148143

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L27 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
exocytosis IEA
Inferred from Electronic Annotation
more info
 
inner ear development IEA
Inferred from Electronic Annotation
more info
 
maintenance of epithelial cell apical/basal polarity IBA
Inferred from Biological aspect of Ancestor
more info
 
neurotransmitter secretion IBA
Inferred from Biological aspect of Ancestor
more info
 
neurotransmitter secretion TAS
Traceable Author Statement
more info
 
protein complex assembly TAS
Traceable Author Statement
more info
PubMed 
protein localization to basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
protein lin-7 homolog A
Names
mammalian lin-seven protein 1
tax interaction protein 33
vertebrate LIN7 homolog 1

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

  1. NG_050580.1 RefSeqGene

    Range
    5009..150404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC025568, AC068798, AC078886
    Conserved Domains (1) summary
    cd00992
    Location:35116
    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) ...
  2. NM_004664.3NP_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, AF173081, BC041400
    Consensus CDS
    CCDS9021.1
    UniProtKB/Swiss-Prot
    O14910
    Related
    ENSP00000447488.1, OTTHUMP00000243111, ENST00000552864.5, OTTHUMT00000407760
    Conserved Domains (2) summary
    smart00569
    Location:3183
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd00992
    Location:106187
    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) ...

RNA

  1. NR_136887.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC025568, AC068798, AC078886
  2. NR_136888.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC025568, AC068798, AC078886

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

    Range
    80792520..80937915 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538928.2XP_011537230.1  protein lin-7 homolog A isoform X1

    Conserved Domains (2) summary
    smart00569
    Location:3183
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd00992
    Location:106170
    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) ...

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    81152694..81298106 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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