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GOLPH3L Gene

protein-coding GIFtS: 52
GCID: GC01M150618

Golgi Phosphoprotein 3-Like

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Golgi Phosphoprotein 3-Like¹ ²
GPP34R² ³ ⁵
GPP34-Related Protein² ³

External Ids:	HGNC: 24882¹	Entrez Gene: 55204²	Ensembl: ENSG00000143457⁷	OMIM: 612208⁵	UniProtKB: Q9H4A5³

Export aliases for GOLPH3L gene to outside databases

Previous GC identifers: GC01M147432 GC01M148885 GC01M121996

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GOLPH3L Gene:

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic

reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in

Golgi trafficking. (provided by RefSeq, Jul 2008)

GeneCards Summary for GOLPH3L Gene:

GOLPH3L (golgi phosphoprotein 3-like) is a protein-coding gene. GO annotations related to this gene include phosphatidylinositol-4-phosphate binding. An important paralog of this gene is GOLPH3.

UniProtKB/Swiss-Prot: GLP3L_HUMAN, Q9H4A5

Function: Phosphatidylinositol-4-phosphate-binding protein that may antagonize the action of GOLPH3 which is

required for the process of vesicle budding at the Golgi and anterograde transport to the plasma membrane

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000001.10 NT_004487.20 NC_018912.2

Regulatory elements:

Regulatory transcription factor binding sites in the GOLPH3L gene promoter:
SRF HFH-3 RP58 SRF (504 AA) GATA-1 FOXI1 POU2F1 POU2F1a FOXJ2 (long isoform) FOXJ2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GOLPH3L promoter sequence

Search Chromatin IP Primers for GOLPH3L

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GOLPH3L

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.3 Ensembl cytogenetic band: 1q21.3 HGNC cytogenetic band: 1q21

GOLPH3L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GOLPH3L gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M150618: view genomic region (about GC identifiers)

Start:	150,618,701 bp from pter	End:	150,669,672 bp from pter
Size:	50,972 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GLP3L_HUMAN, Q9H4A5 (See protein sequence)

Recommended Name: Golgi phosphoprotein 3-like

Size: 285 amino acids; 32767 Da

Subunit: Homooligomer (By similarity). Does not interact MYO18; differs from GOLPH3 by its inability to interact

with MYO18. May interact with ARF1

Sequence caution: Sequence=BAA91750.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: B1AN09 Q9NVK0

Explore the universe of human proteins at neXtProt for GOLPH3L: NX_Q9H4A5

Explore proteomics data for GOLPH3L at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See GOLPH3L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_060648.2

ENSEMBL proteins:

ENSP00000271732 ENSP00000410476 ENSP00000446070

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:

IPR008628 GPP34

Graphical View of Domain Structure for InterPro Entry Q9H4A5

ProtoNet protein and cluster: Q9H4A5

1 Blocks protein domain: IPB008628 Golgi phosphoprotein 3

UniProtKB/Swiss-Prot: GLP3L_HUMAN, Q9H4A5

Similarity: Belongs to the GOLPH3/VPS74 family

Find genes that share domains with GOLPH3L About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: GLP3L_HUMAN, Q9H4A5

Function: Phosphatidylinositol-4-phosphate-binding protein that may antagonize the action of GOLPH3 which is

required for the process of vesicle budding at the Golgi and anterograde transport to the plasma membrane

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--
GO:0070273	phosphatidylinositol-4-phosphate binding	IDA	--

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Phenotypes:
1 GenomeRNAi human phenotype for GOLPH3L:

Large cells

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for GOLPH3L

miRNA Products:		miRTarBase miRNAs that target GOLPH3L: hsa-mir-15a-5p (MIRT000849), hsa-mir-16-5p (MIRT000848), hsa-mir-128-3p (MIRT022020)

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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

GLP3L_HUMAN, Q9H4A5: Golgi apparatus, Golgi stack membrane; Peripheral membrane protein; Cytoplasmic side. Golgi

apparatus, trans-Golgi network membrane; Peripheral membrane protein; Cytoplasmic side. Note=Phosphatidylinositol

4-phosphate (PtdIns4P)-binding mediates recruitment to Golgi membranes

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
golgi apparatus	5
nucleus	3

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Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	IC	--
GO:0032580	Golgi cisterna membrane	IEA	--
GO:0032588	trans-Golgi network membrane	IC	--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for GOLPH3L About

See pathways by source

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SuperPath

Contained pathways About

Transcriptional misregulation in cancer

Transcriptional misregulation in cancer

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Pathways by source See SuperPaths
Show all pathways

1 Kegg Pathway (Kegg details for GOLPH3L):

Transcriptional misregulation in cancer

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for GOLPH3L
Interactions:

Search GeneGlobe Interaction Network for GOLPH3L

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

Selected Interacting proteins for GOLPH3L (Q9H4A5^{1, 3} ENSP00000271732⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 55)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARCN1	P48444³, ENSP00000264028⁴	I2D: score=1 STRING: ENSP00000264028
COPG2	Q9UBF2³, ENSP00000393912⁴	I2D: score=1 STRING: ENSP00000393912
KIAA0368	Q5VYK3³, ENSP00000259335⁴	I2D: score=1 STRING: ENSP00000259335
COPA	P53621³, ENSP00000357048⁴	I2D: score=1 STRING: ENSP00000357048
COPB1	P53618³, ENSP00000249923⁴	I2D: score=1 STRING: ENSP00000249923

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Gene Ontology (GO): 2 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007030	Golgi organization	IMP	--
GO:0050714	positive regulation of protein secretion	IMP	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for GOLPH3L (GLP3L)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for GOLPH3L gene:

NM_018178.5

Unigene Cluster for GOLPH3L:

Golgi phosphoprotein 3-like

Hs.203699 [show with all ESTs]

Unigene Representative Sequence: NM_018178

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000271732(uc001evj.2 uc010pci.1) ENST00000427665 ENST00000479757

ENST00000540514

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		QuantiFast Probe-based Assays in human, mouse, rat GOLPH3L

Additional mRNA sequence:

AJ296153.1 AK001549.1 AK300635.1 AK315594.1 BC013870.2

9 DOTS entries:

DT.91785466 DT.100760947 DT.100685558 DT.100694501 DT.121367804 DT.121367815 DT.121368030 DT.121368034

DT.95359583

Selected AceView cDNA sequences (see all 156):

BF001715 BQ267824 BQ184958 AW445094 BM928226 AI623448 BM674827 CB243830

AL703369 BF591231 BG742527 BM273025 BM451954 BM969175 NM_018178 BM717550

AU130135 BM750834 CR622887 AA232616 AI017699 AA147436 AI762255 BP341735

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for GOLPH3L (see all 7) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6	^	7a	·	7b	·	7c	·	7d
SP1:											-				-		-
SP2:											-				-		-
SP3:											-				-
SP4:															-		-
SP5:											-				-		-						-

ECgene alternative splicing isoforms for GOLPH3L

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GOLPH3L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AATTGAAACC

About this image

GOLPH3L expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database


Eye (Sensory Organs)
Retina

GOLPH3L Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

GOLPH3L Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.203699

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for GOLPH3L gene from Selected species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Golph3l^{1 , 5}	golgi phosphoprotein 3-like^{1, 5}	89.59(n)¹ 95.09(a)¹		3 (40.74 cM)⁵ 229593¹ NM_146133.3¹ NP_666245.2¹ 95588934⁵
chicken (Gallus gallus)	Aves	GOLPH3L¹	golgi phosphoprotein 3-like	68.22(n) 72.4(a)		425072 XM_004948290.1 XP_004948347.1
lizard (Anolis carolinensis)	Reptilia	GOLPH3L⁶	golgi phosphoprotein 3-like	84(a)	1 ↔ 1	GL343862.1(74320-91999)
tropical clawed frog (Xenopus tropicalis)	Amphibia	CF220195.1²	--	76.53(n)		CF220195.1
zebrafish (Danio rerio)	Actinopterygii	golph3l¹	golgi phosphoprotein 3-like	63.5(n) 63.73(a)		569617 NM_001037699.1 NP_001032788.1
fruit fly (Drosophila melanogaster)	Insecta	l(2)s5379⁶	lethal (2) s5379	59(a)	1 → many	2L(2226523-2231099)
worm (Caenorhabditis elegans)	Secernentea	Y47G6A.18⁶	Protein Y47G6A.18 (Y47G6A.18) mRNA, complete cds	54(a)	1 → many	I(3508635-3512733) WBGene00021644
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	VPS74¹	VPS74	53.62(n) 50.47(a)		851978 NP_010660.1

ENSEMBL Gene Tree for GOLPH3L (if available)
TreeFam Gene Tree for GOLPH3L (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for GOLPH3L gene

GOLPH3²

1 SIMAP similar gene for GOLPH3L using alignment to 3 protein entries: GLP3L_HUMAN F5H4M3_HUMAN Q5T5I6_HUMAN(see first protein):

GOLPH3

Find genes that share paralogs with GOLPH3L About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs71086589^1,2	C	--	150625932(+)	`TTTTT-/TGGAGA`	1	--	int¹		1		NA	2
rs12058548^1,2	A	--	150666273(+)	`TATGTA/GTGTGT`	1	--	int¹		0	--	--	--	--
rs11204703^1,2	C,A	--	150666297(+)	`TGTGTG/ATATAT`	1	--	int¹		3		NA	6
rs190625757^1,2		--	150666299(+)	`TGTATA/GTATAT`	1	--	int¹		0	--	--	--	--
rs11799714^1,2	H	--	150666311(+)	`tatatA/Gtatat`	1	--	int¹		0	--	--	--	--
rs12731712^1,2		--	150666316(+)	`atataC/Tatata`	1	--	int¹		0	--	--	--	--
rs66627372^1,2	C	--	150666324(+)	`TATAT-/TT/TT T/TTTTTTTTTT`	2	--	int¹ cds¹		2		NA	4
rs7556489^1,2	C	--	150666325(+)	`tatatA/Tttttt`	1	--	int¹ trp³		1		NA	2
rs11799727^1,2	C,F,H	--	150666379(+)	`catccG/Aggctg`	1	--	int¹		1		NA	2
rs140984002^1,2		--	157119935(+)	`AATTGA/GCTAAT`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GOLPH3L (150618701 - 150669672 bp)

Structural Variations
Database of Genomic Variants (DGV) 3 variations for GOLPH3L: About this table

Variant ID	Type	Subtype	PubMed ID
esv2427260	CNV	Deletion	19546169
nsv437158	CNV	Loss	16327808
nsv872417	CNV	Loss	21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 612208 OMIM disorders: --

Find genes that share disorders with GOLPH3L About GenesLikeMe

Genetic Association Database (GAD): GOLPH3L
Human Genome Epidemiology (HuGE) Navigator: GOLPH3L (1 document)

Export disorders for GOLPH3L gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for GOLPH3L gene, integrated from 10 sources (see all 17):
(articles sorted by number of sources associating them with GOLPH3L)

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GOLPH3L antagonizes GOLPH3 to determine Golgi morphology. (PubMed id 23345592)^{1, 2} Ng M.M....Field S.J. (Mol. Biol. Cell 2013)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (Mol. Med. 2010)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Proteomics characterization of abundant Golgi membrane proteins. (PubMed id 11042173)^{1, 2} Bell A.W....Bergeron J.J.M. (J. Biol. Chem. 2001)
VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)¹ Yu C.C....Chow L.P. (PLoS ONE 2013)
Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)¹ Suter B....Wanker E.E. (Nucleic Acids Res. 2013)
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. (PubMed id 23585552)¹ Kirin M....Mitry D. (Hum. Mol. Genet. 2013)
A conserved N-terminal arginine-motif in GOLPH3-family proteins mediates binding to coatomer. (PubMed id 22889169)² Tu L.... Banfield D.K. (Traffic 2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (Mol. Cell 2011)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 55204	HGNC: 24882	AceView: GPP34R	Ensembl:ENSG00000143457	euGenes: HUgn55204
ECgene: GOLPH3L	Kegg: 55204	H-InvDB: GOLPH3L

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GOLPH3L	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GOLPH3L gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for GOLPH3L gene:
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Golgi Phosphoprotein 3-Like

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Golgi Phosphoprotein 3-Like

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