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Q13432

- U119A_HUMAN

UniProt

Q13432 - U119A_HUMAN

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Protein
Protein unc-119 homolog A
Gene
UNC119, RG4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Myristoyl-binding protein that acts as a cargo adapter: 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. Binds myristoylated NPHP3; however, in contrast to UNC119B, does not seem to play a major role in ciliary membrane localization of NPHP3. Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells.2 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei131 – 1311Lipid

GO - Molecular functioni

  1. lipid binding Source: UniProtKB
  2. protein binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. cytokinesis, completion of separation Source: UniProtKB
  2. lipoprotein transport Source: UniProtKB
  3. negative regulation of caveolin-mediated endocytosis Source: UniProtKB
  4. negative regulation of clathrin-mediated endocytosis Source: UniProtKB
  5. phototransduction Source: ProtInc
  6. positive regulation of protein tyrosine kinase activity Source: UniProtKB
  7. synaptic transmission Source: ProtInc
  8. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Protein transport, Sensory transduction, Transport, Vision

Keywords - Ligandi

Lipid-binding

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:12565. UNC119.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 1 Publication

GO - Cellular componenti

  1. centrosome Source: UniProtKB
  2. cytosol Source: ProtInc
  3. intercellular bridge Source: UniProtKB
  4. spindle midzone Source: UniProtKB
  5. 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.

Keywords - Diseasei

Cone-rod dystrophy

Organism-specific databases

Orphaneti1872. Cone rod dystrophy.
228000. Idiopathic CD4 lymphocytopenia.
PharmGKBiPA37202.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 240240Protein unc-119 homolog A
PRO_0000221212Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei37 – 371Phosphoserine By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ13432.
PaxDbiQ13432.
PRIDEiQ13432.

PTM databases

PhosphoSiteiQ13432.

Expressioni

Tissue specificityi

Retinal-specific. Localized in photoreceptor synapses in the outer plexiform layer of the retina.

Gene expression databases

ArrayExpressiQ13432.
BgeeiQ13432.
CleanExiHS_UNC119.
GenevestigatoriQ13432.

Organism-specific databases

HPAiHPA041912.

Interactioni

Subunit structurei

Interacts with CABP4; in the absence of calcium. May interact with ARL1, ARL2 and ARL3 GTP-bound forms. 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.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ARL2P364042EBI-711260,EBI-752365
Arl2Q9D0J42EBI-711260,EBI-1033319From a different organism.
ARL3P364055EBI-711260,EBI-712710
Arl3Q9WUL73EBI-711260,EBI-6860857From a different organism.

Protein-protein interaction databases

BioGridi114548. 90 interactions.
IntActiQ13432. 88 interactions.
MINTiMINT-1372196.
STRINGi9606.ENSP00000337040.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi62 – 643
Turni65 – 673
Helixi79 – 813
Beta strandi87 – 959
Turni96 – 983
Beta strandi101 – 1066
Beta strandi128 – 1325
Helixi135 – 1395
Beta strandi141 – 15010
Beta strandi158 – 16710
Beta strandi170 – 1789
Beta strandi186 – 19510
Helixi201 – 2099
Beta strandi214 – 2229
Beta strandi225 – 23511

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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[»]
ProteinModelPortaliQ13432.
SMRiQ13432. Positions 57-239.

Miscellaneous databases

EvolutionaryTraceiQ13432.

Family & Domainsi

Domaini

Adopts an immunoglobulin-like beta-sandwich fold forming a hydrophobic cavity that capture N-terminally myristoylated target peptides (1 Publication). Phe residues within the hydrophobic beta sandwich are required for myristate binding (1 Publication).

Sequence similaritiesi

Belongs to the PDE6D/unc-119 family.

Phylogenomic databases

eggNOGiNOG305476.
HOGENOMiHOG000258286.
HOVERGENiHBG108625.
InParanoidiQ13432.
OMAiIHERRPQ.
OrthoDBiEOG7288SP.
PhylomeDBiQ13432.
TreeFamiTF314474.

Family and domain databases

Gene3Di2.70.50.40. 1 hit.
InterProiIPR008015. GMP_PDE_delta.
IPR014756. Ig_E-set.
[Graphical view]
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. Align

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

MKVKKGGGGA GTATESAPGP SGQSVAPIPQ PPAESESGSE SEPDAGPGPR    50
PGPLQRKQPI GPEDVLGLQR ITGDYLCSPE ENIYKIDFVR FKIRDMDSGT 100
VLFEIKKPPV SERLPINRRD LDPNAGRFVR YQFTPAFLRL RQVGATVEFT 150
VGDKPVNNFR MIERHYFRNQ LLKSFDFHFG FCIPSSKNTC EHIYDFPPLS 200
EELISEMIRH PYETQSDSFY FVDDRLVMHN KADYSYSGTP 240
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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei204 – 24037ISEMI…YSGTP → SARAGSSGSGEVGASRD in isoform B.
VSP_004545Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_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.2. human. [Q13432-1]
uc002hbm.2. human. [Q13432-2]

Polymorphism databases

DMDMi2498854.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS11233.1. [Q13432-1 ]
CCDS11234.1. [Q13432-2 ]
RefSeqi NP_005139.1. NM_005148.3. [Q13432-1 ]
NP_473376.1. NM_054035.2. [Q13432-2 ]
UniGenei Hs.410455.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3GQQ X-ray 1.95 A/B/C/D/E/F 56-240 [» ]
3RBQ X-ray 2.00 A/B/C/D/E/F 56-240 [» ]
4GOJ X-ray 2.10 C/D 1-240 [» ]
4GOK X-ray 2.60 C/G 1-240 [» ]
ProteinModelPortali Q13432.
SMRi Q13432. Positions 57-239.
ModBasei Search...

Protein-protein interaction databases

BioGridi 114548. 90 interactions.
IntActi Q13432. 88 interactions.
MINTi MINT-1372196.
STRINGi 9606.ENSP00000337040.

PTM databases

PhosphoSitei Q13432.

Polymorphism databases

DMDMi 2498854.

Proteomic databases

MaxQBi Q13432.
PaxDbi Q13432.
PRIDEi Q13432.

Protocols and materials databases

DNASUi 9094.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000301032 ; ENSP00000301032 ; ENSG00000109103 . [Q13432-2 ]
ENST00000335765 ; ENSP00000337040 ; ENSG00000109103 . [Q13432-1 ]
GeneIDi 9094.
KEGGi hsa:9094.
UCSCi uc002hbk.2. human. [Q13432-1 ]
uc002hbm.2. human. [Q13432-2 ]

Organism-specific databases

CTDi 9094.
GeneCardsi GC17M026873.
HGNCi HGNC:12565. UNC119.
HPAi HPA041912.
MIMi 604011. gene.
neXtProti NX_Q13432.
Orphaneti 1872. Cone rod dystrophy.
228000. Idiopathic CD4 lymphocytopenia.
PharmGKBi PA37202.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG305476.
HOGENOMi HOG000258286.
HOVERGENi HBG108625.
InParanoidi Q13432.
OMAi IHERRPQ.
OrthoDBi EOG7288SP.
PhylomeDBi Q13432.
TreeFami TF314474.

Miscellaneous databases

ChiTaRSi UNC119. human.
EvolutionaryTracei Q13432.
GeneWikii Protein_unc-119_homolog.
GenomeRNAii 9094.
NextBioi 34075.
PROi Q13432.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q13432.
Bgeei Q13432.
CleanExi HS_UNC119.
Genevestigatori Q13432.

Family and domain databases

Gene3Di 2.70.50.40. 1 hit.
InterProi IPR008015. GMP_PDE_delta.
IPR014756. Ig_E-set.
[Graphical view ]
Pfami PF05351. GMP_PDE_delta. 1 hit.
[Graphical view ]
SUPFAMi SSF81296. SSF81296. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of the cDNA for a novel photoreceptor protein."
    Higashide T., Murakami A., McLaren M.J., Inana G.
    J. Biol. Chem. 271:1797-1804(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    Tissue: Retina.
  2. "Mammalian orthologs of C. elegans unc-119 highly expressed in photoreceptors."
    Swanson D.A., Chang J.T., Campochiaro P.A., Zack D.J., Valle D.
    Invest. Ophthalmol. Vis. Sci. 39:2085-2094(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B).
    Tissue: Retina.
  3. "Characterization of the gene for HRG4 (UNC119), a novel photoreceptor synaptic protein homologous to unc-119."
    Higashide T., Inana G.
    Genomics 57:446-450(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM A).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
    Tissue: Testis.
  5. "Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method."
    Oshikawa M., Tsutsui C., Ikegami T., Fuchida Y., Matsubara M., Toyama S., Usami R., Ohtoko K., Kato S.
    Invest. Ophthalmol. Vis. Sci. 52:6662-6670(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
    Tissue: Retinoblastoma.
  6. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
    Tissue: Lymph.
  9. "HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model."
    Kobayashi A., Higashide T., Hamasaki D., Kubota S., Sakuma H., An W., Fujimaki T., McLaren M.J., Weleber R.G., Inana G.
    Invest. Ophthalmol. Vis. Sci. 41:3268-3277(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CONE-ROD DYSTROPHY.
  10. "ADP-ribosylation factors (ARFs) and ARF-like 1 (ARL1) have both specific and shared effectors: characterizing ARL1-binding proteins."
    Van Valkenburgh H., Shern J.F., Sharer J.D., Zhu X., Kahn R.A.
    J. Biol. Chem. 276:22826-22837(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ARL1; ARL2 AND ARL3.
  11. "Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex."
    Veltel S., Kravchenko A., Ismail S., Wittinghofer A.
    FEBS Lett. 582:2501-2507(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN A COMPLEX WITH ARL3 AND RP2.
  12. Cited for: FUNCTION, LIPID-BINDING, SUBCELLULAR LOCATION, INTERACTION WITH NPHP3; CYS1 AND C5ORF30.
  13. Cited for: X-RAY CRYSTALLOGRAPHY (1.94 ANGSTROMS) OF 56-240 IN COMPLEX WITH LAURYLATED GNAT1, FUNCTION, INTERACTION WITH GNAT1.

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: July 9, 2014
This is version 115 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 (1 Publication). According to a another report, rather acts by targeting proteins to membranes (1 Publication).

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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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