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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-Experimental evidence at protein leveli

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei131Lipid1

GO - Molecular functioni

  • lipid binding Source: UniProtKB

GO - Biological processi

  • chemical synaptic transmission Source: ProtInc
  • endocytosis Source: UniProtKB-KW
  • lipoprotein transport Source: UniProtKB
  • negative regulation of caveolin-mediated endocytosis Source: UniProtKB
  • negative regulation of clathrin-dependent endocytosis Source: UniProtKB
  • phototransduction Source: ProtInc
  • positive regulation of protein tyrosine kinase activity Source: UniProtKB
  • protein transport Source: UniProtKB-KW
  • visual perception Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Endocytosis, Protein transport, Sensory transduction, Transport, Vision

Keywords - Ligandi

Lipid-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000109103-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein unc-119 homolog A
Alternative name(s):
Retinal protein 4
Short name:
hRG4
Gene namesi
Name:UNC119
Synonyms:RG4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:12565. UNC119.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • cytosol Source: ProtInc
  • intercellular bridge Source: UniProtKB
  • spindle midzone Source: UniProtKB
  • spindle pole Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

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.

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
Natural variantiVAR_07118422G → V in IMD13; impairs interaction with LCK; impairs LCK activation; induces LCK mislocalization. 1 PublicationCorresponds to variant rs199714731dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi29 – 32PQPP → AQPA: Impairs interaction with LCK. 1 Publication4

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation

Organism-specific databases

DisGeNETi9094.
MalaCardsiUNC119.
MIMi615518. phenotype.
OpenTargetsiENSG00000109103.
Orphaneti1872. Cone rod dystrophy.
228000. Idiopathic CD4 lymphocytopenia.
PharmGKBiPA37202.

Polymorphism and mutation databases

BioMutaiUNC119.
DMDMi2498854.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002212121 – 240Protein unc-119 homolog AAdd BLAST240

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei37PhosphoserineBy similarity1
Modified residuei39PhosphoserineBy similarity1
Modified residuei41PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ13432.
MaxQBiQ13432.
PaxDbiQ13432.
PeptideAtlasiQ13432.
PRIDEiQ13432.

PTM databases

iPTMnetiQ13432.
PhosphoSitePlusiQ13432.

Expressioni

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

BgeeiENSG00000109103.
CleanExiHS_UNC119.
ExpressionAtlasiQ13432. baseline and differential.
GenevisibleiQ13432. HS.

Organism-specific databases

HPAiHPA041912.

Interactioni

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

Binary interactionsi

WithEntry#Exp.IntActNotes
AMOTQ4VCS5-23EBI-711260,EBI-3891843
ARL2P364048EBI-711260,EBI-752365
Arl2Q9D0J42EBI-711260,EBI-1033319From a different organism.
ARL3P364059EBI-711260,EBI-712710
Arl3Q9WUL73EBI-711260,EBI-6860857From a different organism.
C16orf74R4GN893EBI-711260,EBI-10225238
NPHP3Q7Z4943EBI-711260,EBI-2804263

Protein-protein interaction databases

BioGridi114548. 116 interactors.
DIPiDIP-42697N.
IntActiQ13432. 94 interactors.
MINTiMINT-1372196.
STRINGi9606.ENSP00000337040.

Structurei

Secondary structure

1240
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi62 – 64Combined sources3
Turni65 – 67Combined sources3
Helixi79 – 81Combined sources3
Beta strandi87 – 95Combined sources9
Turni96 – 98Combined sources3
Beta strandi101 – 106Combined sources6
Beta strandi128 – 132Combined sources5
Helixi135 – 139Combined sources5
Beta strandi141 – 150Combined sources10
Beta strandi158 – 167Combined sources10
Beta strandi170 – 178Combined sources9
Beta strandi186 – 195Combined sources10
Helixi201 – 209Combined sources9
Beta strandi214 – 222Combined sources9
Beta strandi225 – 235Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ13432.
SMRiQ13432.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13432.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 59Required for midbody localizationAdd BLAST59
Regioni121 – 240Required for centrosome localizationAdd BLAST120

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

Sequence similaritiesi

Belongs to the PDE6D/unc-119 family.Curated

Phylogenomic databases

eggNOGiKOG4037. Eukaryota.
ENOG410YJ3E. LUCA.
GeneTreeiENSGT00390000014595.
HOGENOMiHOG000258286.
HOVERGENiHBG108625.
InParanoidiQ13432.
OMAiYKIDFIR.
OrthoDBiEOG091G0J2K.
PhylomeDBiQ13432.
TreeFamiTF314474.

Family and domain databases

Gene3Di2.70.50.40. 1 hit.
InterProiIPR014756. Ig_E-set.
IPR008015. PDED_dom.
IPR032977. UNC119.
[Graphical view]
PANTHERiPTHR12951:SF2. PTHR12951:SF2. 1 hit.
PfamiPF05351. GMP_PDE_delta. 1 hit.
[Graphical view]
SUPFAMiSSF81296. SSF81296. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

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 rs199714731dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_004545204 – 240ISEMI…YSGTP → SARAGSSGSGEVGASRD in isoform B. 3 PublicationsAdd BLAST37

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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

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:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ13432.
SMRiQ13432.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114548. 116 interactors.
DIPiDIP-42697N.
IntActiQ13432. 94 interactors.
MINTiMINT-1372196.
STRINGi9606.ENSP00000337040.

PTM databases

iPTMnetiQ13432.
PhosphoSitePlusiQ13432.

Polymorphism and mutation databases

BioMutaiUNC119.
DMDMi2498854.

Proteomic databases

EPDiQ13432.
MaxQBiQ13432.
PaxDbiQ13432.
PeptideAtlasiQ13432.
PRIDEiQ13432.

Protocols and materials databases

DNASUi9094.
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

CTDi9094.
DisGeNETi9094.
GeneCardsiUNC119.
HGNCiHGNC:12565. UNC119.
HPAiHPA041912.
MalaCardsiUNC119.
MIMi604011. gene.
615518. phenotype.
neXtProtiNX_Q13432.
OpenTargetsiENSG00000109103.
Orphaneti1872. Cone rod dystrophy.
228000. Idiopathic CD4 lymphocytopenia.
PharmGKBiPA37202.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4037. Eukaryota.
ENOG410YJ3E. LUCA.
GeneTreeiENSGT00390000014595.
HOGENOMiHOG000258286.
HOVERGENiHBG108625.
InParanoidiQ13432.
OMAiYKIDFIR.
OrthoDBiEOG091G0J2K.
PhylomeDBiQ13432.
TreeFamiTF314474.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000109103-MONOMER.

Miscellaneous databases

ChiTaRSiUNC119. human.
EvolutionaryTraceiQ13432.
GeneWikiiProtein_unc-119_homolog.
GenomeRNAii9094.
PROiQ13432.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109103.
CleanExiHS_UNC119.
ExpressionAtlasiQ13432. baseline and differential.
GenevisibleiQ13432. HS.

Family and domain databases

Gene3Di2.70.50.40. 1 hit.
InterProiIPR014756. Ig_E-set.
IPR008015. PDED_dom.
IPR032977. UNC119.
[Graphical view]
PANTHERiPTHR12951:SF2. PTHR12951:SF2. 1 hit.
PfamiPF05351. GMP_PDE_delta. 1 hit.
[Graphical view]
SUPFAMiSSF81296. SSF81296. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiU119A_HUMAN
AccessioniPrimary (citable) accession number: Q13432
Secondary accession number(s): A8K8G4, F1T095, O95126
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: November 30, 2016
This is version 138 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.