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Protein

Protein unc-119 homolog A

Gene

UNC119

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid-binding chaperone with specificity for a diverse subset of myristoylated proteins. Specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons. Probably plays a role in trafficking proteins in photoreceptor cells. Plays important roles in mediating Src family kinase signals for the completion of cytokinesis via RAB11A.1 Publication6 Publications

Caution

According to some authors, acts by extracting target proteins from membranes (PubMed:21642972). According to a another report, rather acts by targeting proteins to membranes (PubMed:22085962).2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei131Lipid1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • lipid binding Source: UniProtKB

GO - Biological processi

  • chemical synaptic transmission Source: ProtInc
  • endocytosis Source: UniProtKB-KW
  • lipoprotein transport Source: UniProtKB
  • mitotic cytokinesis Source: UniProtKB
  • negative regulation of caveolin-mediated endocytosis Source: UniProtKB
  • negative regulation of clathrin-dependent endocytosis Source: UniProtKB
  • nervous system development Source: GO_Central
  • phototransduction Source: ProtInc
  • positive regulation of protein tyrosine kinase activity Source: UniProtKB
  • visual perception Source: ProtInc

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processEndocytosis, Protein transport, Sensory transduction, Transport, Vision
LigandLipid-binding

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein unc-119 homolog A
Alternative name(s):
Retinal protein 4
Short name:
hRG4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:UNC119
Synonyms:RG4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000109103.11

Human Gene Nomenclature Database

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HGNCi
HGNC:12565 UNC119

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604011 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q13432

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Defects in UNC119 may be a cause of cone-rod dystrophy. A mutation was found in a 57-year-old woman with late-onset cone-rod dystrophy: from 40 year old, the patient suffered from poor night vision, defective color vision and light-sensitivity. At 57 year old, she displayed reduced visual acuity, myopa, macular atrophy and pericentral ring scotomas. The disease was caused by a heterozygous mutation causing premature termination and truncated UNC119 protein with dominant-negative effect.1 Publication
Immunodeficiency 13 (IMD13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T-cells) in the absence of HIV infection or other known causes of immunodeficiency. IMD13 predisposes to infections and malignancy.
See also OMIM:615518
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07118422G → V in IMD13; impairs interaction with LCK; impairs LCK activation; induces LCK mislocalization. 1 PublicationCorresponds to variant dbSNP:rs199714731EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi29 – 32PQPP → AQPA: Impairs interaction with LCK. 1 Publication4

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
9094

MalaCards human disease database

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MalaCardsi
UNC119
MIMi615518 phenotype

Open Targets

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OpenTargetsi
ENSG00000109103

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1872 Cone rod dystrophy
228000 Idiopathic CD4 lymphocytopenia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA37202

Chemistry databases

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
3011

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
UNC119

Domain mapping of disease mutations (DMDM)

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DMDMi
2498854

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002212121 – 240Protein unc-119 homolog AAdd BLAST240

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei37PhosphoserineBy similarity1
Modified residuei39PhosphoserineBy similarity1
Modified residuei41PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q13432

MaxQB - The MaxQuant DataBase

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MaxQBi
Q13432

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q13432

PeptideAtlas

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PeptideAtlasi
Q13432

PRoteomics IDEntifications database

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PRIDEi
Q13432

ProteomicsDB human proteome resource

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ProteomicsDBi
59426
59427 [Q13432-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q13432

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q13432

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Abundantly expressed in retina, in photoreceptor synapses and inner segments. Expressed in a much lesser extent in several other tissues.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000109103 Expressed in 190 organ(s), highest expression level in pigmented layer of retina

CleanEx database of gene expression profiles

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CleanExi
HS_UNC119

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13432 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13432 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA041912

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CABP4; in the absence of calcium (By similarity). Interacts with DNM1; leading to a decrease of DNM1 GTPase activity (By similarity). May interact with GTP-bound ARL1. Interacts with ARL2 and ARL3 (GTP-bound forms); this promotes the release of myyristoylated cargo proteins (PubMed:22960633). Found in a complex with ARL3, RP2 and UNC119; RP2 induces hydrolysis of GTP ARL3 in the complex, leading to the release of UNC119. Interacts with NPHP3 (when myristoylated). Interacts with CYS1 (when myristoylated). Interacts with C5orf30; interaction only takes place when UNC119 is not liganded with myristoylated proteins. Interacts with LCK; this interaction plays a crucial role in activation of LCK. Interacts with FYN. Interacts with RAB11A; in a cell cycle-dependent manner. Interacts with LYN (via SH2 and SH3 domains); leading to LYN activation. Found in a complex with ABL1, ABL2, CRK and UNC119; leading to the inhibition of CRK phosphorylation by ABL kinases. Interacts with CD44; leading to Shigella invasion.By similarity9 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114548, 120 interactors

Database of interacting proteins

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DIPi
DIP-42697N

Protein interaction database and analysis system

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IntActi
Q13432, 101 interactors

Molecular INTeraction database

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MINTi
Q13432

STRING: functional protein association networks

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STRINGi
9606.ENSP00000337040

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1240
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q13432

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q13432

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q13432

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 59Required for midbody localizationAdd BLAST59
Regioni121 – 240Required for centrosome localizationAdd BLAST120

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Adopts an immunoglobulin-like beta-sandwich fold forming a hydrophobic cavity that captures N-terminally myristoylated target peptides (PubMed:21642972). Phe residues within the hydrophobic beta sandwich are required for myristate binding (PubMed:22085962).2 Publications

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the PDE6D/unc-119 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4037 Eukaryota
ENOG410YJ3E LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000014595

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000258286

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG108625

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13432

Identification of Orthologs from Complete Genome Data

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OMAi
CTSRGNS

Database of Orthologous Groups

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OrthoDBi
EOG091G0J2K

Database for complete collections of gene phylogenies

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PhylomeDBi
Q13432

TreeFam database of animal gene trees

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TreeFami
TF314474

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.70.50.40, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR014756 Ig_E-set
IPR008015 PDED_dom
IPR037036 PDED_dom_sf
IPR032977 UNC119_homologue_A

The PANTHER Classification System

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PANTHERi
PTHR12951:SF5 PTHR12951:SF5, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF05351 GMP_PDE_delta, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF81296 SSF81296, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q13432-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKVKKGGGGA GTATESAPGP SGQSVAPIPQ PPAESESGSE SEPDAGPGPR
60 70 80 90 100
PGPLQRKQPI GPEDVLGLQR ITGDYLCSPE ENIYKIDFVR FKIRDMDSGT
110 120 130 140 150
VLFEIKKPPV SERLPINRRD LDPNAGRFVR YQFTPAFLRL RQVGATVEFT
160 170 180 190 200
VGDKPVNNFR MIERHYFRNQ LLKSFDFHFG FCIPSSKNTC EHIYDFPPLS
210 220 230 240
EELISEMIRH PYETQSDSFY FVDDRLVMHN KADYSYSGTP
Length:240
Mass (Da):26,962
Last modified:November 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i22FD19C3518A4446
GO
Isoform B (identifier: Q13432-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     204-240: ISEMIRHPYETQSDSFYFVDDRLVMHNKADYSYSGTP → SARAGSSGSGEVGASRD

Show »
Length:220
Mass (Da):24,112
Checksum:i70146298DD2628C7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EN86K7EN86_HUMAN
Protein unc-119 homolog A
UNC119 hCG_31798
145Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JSK0C9JSK0_HUMAN
Protein unc-119 homolog A
UNC119
208Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EJU3K7EJU3_HUMAN
Protein unc-119 homolog A
UNC119
125Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QQT8J3QQT8_HUMAN
Protein unc-119 homolog A
UNC119
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07118422G → V in IMD13; impairs interaction with LCK; impairs LCK activation; induces LCK mislocalization. 1 PublicationCorresponds to variant dbSNP:rs199714731EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_004545204 – 240ISEMI…YSGTP → SARAGSSGSGEVGASRD in isoform B. 3 PublicationsAdd BLAST37

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U40998 mRNA Translation: AAC50360.1
AF028788 mRNA Translation: AAD01875.1
AF028789 mRNA Translation: AAD01876.1
AF125998, AF125997 Genomic DNA Translation: AAD31422.1
AK292329 mRNA Translation: BAF85018.1
AB593014 mRNA Translation: BAJ83969.1
AC005726 Genomic DNA No translation available.
CH471159 Genomic DNA Translation: EAW51095.1
BC027176 mRNA Translation: AAH27176.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11233.1 [Q13432-1]
CCDS11234.1 [Q13432-2]

NCBI Reference Sequences

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RefSeqi
NP_001317095.1, NM_001330166.1
NP_005139.1, NM_005148.3 [Q13432-1]
NP_473376.1, NM_054035.2 [Q13432-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.410455

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000301032; ENSP00000301032; ENSG00000109103 [Q13432-2]
ENST00000335765; ENSP00000337040; ENSG00000109103 [Q13432-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9094

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9094

UCSC genome browser

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UCSCi
uc002hbk.3 human [Q13432-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U40998 mRNA Translation: AAC50360.1
AF028788 mRNA Translation: AAD01875.1
AF028789 mRNA Translation: AAD01876.1
AF125998, AF125997 Genomic DNA Translation: AAD31422.1
AK292329 mRNA Translation: BAF85018.1
AB593014 mRNA Translation: BAJ83969.1
AC005726 Genomic DNA No translation available.
CH471159 Genomic DNA Translation: EAW51095.1
BC027176 mRNA Translation: AAH27176.1
CCDSiCCDS11233.1 [Q13432-1]
CCDS11234.1 [Q13432-2]
RefSeqiNP_001317095.1, NM_001330166.1
NP_005139.1, NM_005148.3 [Q13432-1]
NP_473376.1, NM_054035.2 [Q13432-2]
UniGeneiHs.410455

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3GQQX-ray1.95A/B/C/D/E/F56-240[»]
3RBQX-ray2.00A/B/C/D/E/F56-240[»]
4GOJX-ray2.10C/D1-240[»]
4GOKX-ray2.60C/G1-240[»]
5L7KX-ray2.10A/G58-237[»]
6H6AX-ray2.00D/G/J59-240[»]
ProteinModelPortaliQ13432
SMRiQ13432
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114548, 120 interactors
DIPiDIP-42697N
IntActiQ13432, 101 interactors
MINTiQ13432
STRINGi9606.ENSP00000337040

Chemistry databases

GuidetoPHARMACOLOGYi3011

PTM databases

iPTMnetiQ13432
PhosphoSitePlusiQ13432

Polymorphism and mutation databases

BioMutaiUNC119
DMDMi2498854

Proteomic databases

EPDiQ13432
MaxQBiQ13432
PaxDbiQ13432
PeptideAtlasiQ13432
PRIDEiQ13432
ProteomicsDBi59426
59427 [Q13432-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
9094
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000301032; ENSP00000301032; ENSG00000109103 [Q13432-2]
ENST00000335765; ENSP00000337040; ENSG00000109103 [Q13432-1]
GeneIDi9094
KEGGihsa:9094
UCSCiuc002hbk.3 human [Q13432-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9094
DisGeNETi9094
EuPathDBiHostDB:ENSG00000109103.11

GeneCards: human genes, protein and diseases

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GeneCardsi
UNC119
HGNCiHGNC:12565 UNC119
HPAiHPA041912
MalaCardsiUNC119
MIMi604011 gene
615518 phenotype
neXtProtiNX_Q13432
OpenTargetsiENSG00000109103
Orphaneti1872 Cone rod dystrophy
228000 Idiopathic CD4 lymphocytopenia
PharmGKBiPA37202

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4037 Eukaryota
ENOG410YJ3E LUCA
GeneTreeiENSGT00390000014595
HOGENOMiHOG000258286
HOVERGENiHBG108625
InParanoidiQ13432
OMAiCTSRGNS
OrthoDBiEOG091G0J2K
PhylomeDBiQ13432
TreeFamiTF314474

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
UNC119 human
EvolutionaryTraceiQ13432

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Protein_unc-119_homolog

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9094

Protein Ontology

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PROi
PR:Q13432

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000109103 Expressed in 190 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_UNC119
ExpressionAtlasiQ13432 baseline and differential
GenevisibleiQ13432 HS

Family and domain databases

Gene3Di2.70.50.40, 1 hit
InterProiView protein in InterPro
IPR014756 Ig_E-set
IPR008015 PDED_dom
IPR037036 PDED_dom_sf
IPR032977 UNC119_homologue_A
PANTHERiPTHR12951:SF5 PTHR12951:SF5, 1 hit
PfamiView protein in Pfam
PF05351 GMP_PDE_delta, 1 hit
SUPFAMiSSF81296 SSF81296, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiU119A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13432
Secondary accession number(s): A8K8G4, F1T095, O95126
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: November 7, 2018
This is version 151 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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