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UNC119 unc-119 lipid binding chaperone [ Homo sapiens (human) ]

Gene ID: 9094, updated on 7-Jun-2020

Summary

Official Symbol
UNC119provided by HGNC
Official Full Name
unc-119 lipid binding chaperoneprovided by HGNC
Primary source
HGNC:HGNC:12565
See related
Ensembl:ENSG00000109103 MIM:604011
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
HRG4; POC7; IMD13; POC7A
Summary
This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 17.1), bone marrow (RPKM 16.7) and 25 other tissues See more
Orthologs

Genomic context

See UNC119 in Genome Data Viewer
Location:
17q11.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (28546707..28552633, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26873725..26879647, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 13 member 2 Neighboring gene forkhead box N1 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class S Neighboring gene aldolase, fructose-bisphosphate C

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 Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef Expression of SH3/SH2 ligand-uncoordinated 119 (UNC119) completely reverses the HIV-1 Nef-mediated inhibition of immunological synapse recruitment of LCK PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
lipoprotein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipoprotein transport IDA
Inferred from Direct Assay
more info
PubMed 
mitotic cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of caveolin-mediated endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of caveolin-mediated endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of clathrin-dependent endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of clathrin-dependent endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phototransduction TAS
Traceable Author Statement
more info
PubMed 
positive regulation of protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein tyrosine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
visual perception IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
PubMed 
intercellular bridge IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intercellular bridge IDA
Inferred from Direct Assay
more info
PubMed 
spindle midzone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spindle midzone IDA
Inferred from Direct Assay
more info
PubMed 
spindle pole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein unc-119 homolog A
Names
POC7 centriolar protein homolog A
retinal protein 4
unc-119 homolog

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.

Genomic

  1. NG_012302.1 RefSeqGene

    Range
    5001..10922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_341

mRNA and Protein(s)

  1. NM_001330166.2NP_001317095.1  protein unc-119 homolog A isoform c

    Status: REVIEWED

    Source sequence(s)
    AC005726, U40998
    Consensus CDS
    CCDS82094.1
    UniProtKB/Swiss-Prot
    Q13432
    UniProtKB/TrEMBL
    K7EN86
    Related
    ENSP00000466831.1, ENST00000484980.5
    Conserved Domains (1) summary
    pfam05351
    Location:1141
    GMP_PDE_delta; GMP-PDE, delta subunit
  2. NM_005148.4NP_005139.1  protein unc-119 homolog A isoform a

    See identical proteins and their annotated locations for NP_005139.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the most abundant transcript, and encodes the full-length isoform (a) of 240 aa.
    Source sequence(s)
    AF028788, BM848267
    Consensus CDS
    CCDS11233.1
    UniProtKB/Swiss-Prot
    Q13432
    Related
    ENSP00000337040.3, ENST00000335765.9
    Conserved Domains (1) summary
    pfam05351
    Location:80236
    GMP_PDE_delta; GMP-PDE, delta subunit
  3. NM_054035.2NP_473376.1  protein unc-119 homolog A isoform b

    See identical proteins and their annotated locations for NP_473376.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional segment in the 3' region compared to transcript variant 1. This results in a shorter isoform (b) with a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AF028789, BM848267, U40998
    Consensus CDS
    CCDS11234.1
    UniProtKB/Swiss-Prot
    Q13432
    Related
    ENSP00000301032.4, ENST00000301032.8
    Conserved Domains (1) summary
    pfam05351
    Location:80203
    GMP_PDE_delta; GMP-PDE, delta subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    28546707..28552633 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525459.2XP_011523761.1  protein unc-119 homolog A isoform X1

    Conserved Domains (1) summary
    pfam05351
    Location:80109
    GMP_PDE_delta; GMP-PDE, delta subunit
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