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UNC119 unc-119 homolog (C. elegans) [ Homo sapiens (human) ]

Gene ID: 9094, updated on 27-Apr-2015
Official Symbol
UNC119provided by HGNC
Official Full Name
unc-119 homolog (C. elegans)provided by HGNC
Primary source
HGNC:HGNC:12565
See related
Ensembl:ENSG00000109103; HPRD:04927; MIM:604011; Vega:OTTHUMG00000132606
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]
Orthologs
See UNC119 in MapViewer
Location:
17q11.2
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (28546707..28552628, 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 (sodium-dependent dicarboxylate transporter), member 2 Neighboring gene forkhead box N1 Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class S Neighboring gene aldolase C, fructose-bisphosphate

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

  • IL-5 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    IL-5 Signaling Pathway, organism-specific biosystemInterleukin-5 belongs to the family of cytokines, which includes IL-3 and GM-CSF. It signals through a receptor complex comprising of an IL-5 receptor alpha subunit (IL5RA), and a common beta chain w...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endocytosis IEA
Inferred from Electronic Annotation
more info
 
lipoprotein transport IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of caveolin-mediated endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of clathrin-mediated endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
phototransduction TAS
Traceable Author Statement
more info
PubMed 
positive regulation of protein tyrosine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
PubMed 
intercellular bridge IDA
Inferred from Direct Assay
more info
PubMed 
spindle midzone IDA
Inferred from Direct Assay
more info
PubMed 
spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
protein unc-119 homolog A
Names
protein unc-119 homolog A
POC7 centriolar protein homolog A
retinal protein 4

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_005148.3NP_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, U40998
    Consensus CDS
    CCDS11233.1
    UniProtKB/Swiss-Prot
    Q13432
    Related
    ENSP00000337040, OTTHUMP00000163438, ENST00000335765, OTTHUMT00000255842
    Conserved Domains (1) summary
    pfam05351
    Location:78237
    GMP_PDE_delta; GMP-PDE, delta subunit
  2. 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, OTTHUMP00000163439, ENST00000301032, OTTHUMT00000255843
    Conserved Domains (1) summary
    pfam05351
    Location:78203
    GMP_PDE_delta; GMP-PDE, delta subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    28546707..28552628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525459.1XP_011523761.1  

    Conserved Domains (1) summary
    pfam05351
    Location:78112
    GMP_PDE_delta; GMP-PDE, delta subunit

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    26935427..26941348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)