TRAPPC11 - trafficking protein particle complex subunit 11 Gene

Also Known as GRY; FOIGR; LGMD2S; C4orf41; LGMDR18

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 60684

About TRAPPC11

Cytogenetic location: 4q35.1 Genomic coordinates (GRCh38): 4:183,659,293-183,713,589 (from NCBI)

This gene has 10 transcripts (splice variants), 201 orthologues and is associated with 5 phenotypes. Ubiquitous expression in adrenal (RPKM 9.6), thyroid (RPKM 9.5) and 25 other tissues.

Summary

The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]

TRAPPC11 Products (2)

mRNA	Protein	Name
NM_021942.6	NP_068761.4	trafficking protein particle complex subunit 11 isoform a
NM_199053.3	NP_951008.1	trafficking protein particle complex subunit 11 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21525244	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi organization	IMP IMP: Inferred from mutant phenotype	21525244	GOA
involved in constitutive secretory pathway	IMP IMP: Inferred from mutant phenotype	19942856	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	21525244	GOA
involved in regulation of protein complex stability	IMP IMP: Inferred from mutant phenotype	21525244	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	27862579	GOA
part of TRAPP complex	IMP IMP: Inferred from mutant phenotype	21525244	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TRAPPC11 Protein Structure

Foie-gras_1

Gryzun

0
200
400
600
800
1000
1133 a.a.

Protein Preferred Names	Protein Names
trafficking protein particle complex subunit 11	foie gras homolog

Related Diseases

Diseases	Alias
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Lgmd2s LGMDR18 Muscular Dystrophy, Limb-Girdle, Type 2s Trappc11-Related Limb-Girdle Muscular Dystrophy R18 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s Lgmd Type 2s Limb-Girdle Muscular Dystrophy Type 2s Trappc11-Related Lgmd R18 Limb-Girdle Muscular Dystrophy 2s
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	LGMDR23 Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Calpainopathy Lgmd2a Muscular Dystrophy, Limb-Girdle, Type 2a Lgmd2 Muscular Dystrophy, Pelvofemoral LGMDR1 Muscular Dystrophy, Limb-Girdle, Type 2 Leyden-Moebius Muscular Dystrophy Limb-Girdle Muscular Dystrophy Type 2a Muscular Dystrophy Limb Girdle Type 2a, Erb Type Limb-Girdle Muscular Dystrophy, Type 2e Limb-Girdle Muscular Dystrophy Type 2 Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy Lgmd2e Muscular Dystrophy Limb-Girdle With Beta-Sarcoglycan Deficiency Leyden-Moebious Muscular Dystrophy Limb-Girdle Muscular Dystrophy 2a Limb-Girdle Muscular Dystrophy, Type 2a Limb-Girdle Muscular Dystrophy, Type 2s Dystrophy, Muscular, Limb-Girdle, Type 2e Dystrophy, Muscular, Limb-Girdle, Type 2s Muscular Dystrophy, Limb-Girdle, Type 2s Beta-Sarcoglycanopathy
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Achalasia-Addisonianism-Alacrima Syndrome	Allgrove Syndrome Triple-A Syndrome Achalasia-Addisonianism-Alacrimia Syndrome Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder Triple A Syndrome Aaa Syndrome AAAS Glucocorticoid Deficiency With Achalasia Glucocorticoid Deficiency And Achalasia Addisonian-Achalasia Syndrome Hypoadrenalism With Achalasia Alacrima-Achalasia-Addisonianism Aaa Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima Achalasia Addisonianism Alacrimia Syndrome Achalasia Alacrima Syndrome Addisonian Achalasia Syndrome Achalasia-Addisonian Syndrome Achalasia-Alacrima Syndrome 2a Syndrome 3a Syndrome 4a Syndrome Adrenal Insufficiency-Achalasia-Alacrima Syndrome Double A Syndrome Quaternary A Syndrome Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima Allgrove'S Syndrome Adrenal Gland Hypofunction Adrenal Cortical Hypofunction
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloepiphyseal Dysplasia Tarda X-Linked Spondyloepiphyseal Dysplasia Tarda SEDT Sed Tarda, X-Linked Spondyloepiphyseal Dysplasia, Late Spondyloepiphyseal Dysplasia Tarda X-Linked Sed X Linked Spondyloepiphyseal Dysplasia Tarda X-Linked Spondyloepiphyseal Dysplasia Late Onset Spondyloepiphyseal Dysplasia Sed Tarda X-Linked Sed X-Linked Sedt Dysplasia, Spondyloepiphyseal, Tarda Spondyloepiphyseal Dysplasia
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w	Lgmd2w Muscular Dystrophy, Limb-Girdle, Type 2w
Cardiomyopathy, Dilated, 1g	Dilated Cardiomyopathy 1g CMD1G Cardiomyopathy, Dilated 1g Cardiomyopathy, Dilated, Type 1g
Mitochondrial Dna Depletion Syndrome 13	MTDPS13 Fbxl4 Deficiency Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies Fbxl4-Related Early-Onset Mitochondrial Encephalopathy Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type Bxl4-Related Early-Onset Mitochondrial Encephalopathy Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13 Fbxl4-Related Early Onset Mitochondrial Encephalopathy Mitochondrial Dna Depletion Syndrome, Type 13
Muscular Dystrophy-Dystroglycanopathy , Type C, 7	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u Lgmd2u MDDGC7 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 20 Lgmdr20 Muscular Dystrophy, Limb-Girdle, Type 2u Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Ispd Deficiency Muscular Dystrophy Limb-Girdle Type 2u Muscular Dystrophy-Dystroglycanopathy Type C7 Ispd-Related Limb-Girdle Muscular Dystrophy R20 Ispd-Related Lgmd R20 Lgmd Type 2u Limb-Girdle Muscular Dystrophy Type 2u Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C7 Dystrophy, Muscular, Dystroglycanopathy, Type C7
Achalasia	Cardiospasm Achalasia Of Cardia Esophageal Achalasia Hypertensive Lower Esophageal Sphincter Idiopathic Achalasia Achalasia Cardia Idiopathic Achalasia Of Esophagus Primary Achalasia Achalasia Of Esophagus Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter Aperistalsis Of The Oesophagus Achalasia Of Oesophagus Oesophageal Achalasia Achalasia Nos Cardia Spasm Cardia Achalasia Oesophageal Cardiospasm Oesophagus Achalasia Reflex Cardiospasm
Muscular Dystrophy-Dystroglycanopathy , Type C, 14	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t Lgmd2t MDDGC14 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19 Lgmdr19 Muscular Dystrophy Limb-Girdle Type 2t Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related Muscular Dystrophy, Limb-Girdle, Type 2t Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related Muscular Dystrophy-Dystroglycanopathy Type C14 Gmppb-Related Limb-Girdle Muscular Dystrophy R19 Gmppb-Related Lgmd R19 Lgmd Type 2t Limb-Girdle Muscular Dystrophy Type 2t Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14 Dystrophy, Muscular, Limb-Girdle, Type 2t
Muscular Dystrophy-Dystroglycanopathy , Type C, 9	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p Lgmd2p MDDGC9 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 16 Lgmdr16 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Dag1-Related Muscular Dystrophy, Limb-Girdle, Type 2p Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related Muscular Dystrophy-Dystroglycanopathy Type C9 Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 Alpha-Dystroglycan-Related Lgmd R16 Lgmd Type 2p Limb-Girdle Muscular Dystrophy Type 2p Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C9 Muscular Dystrophy Limb-Girdle Type 2p Dystrophy, Muscular, Limb-Girdle, Type 2p
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Developmental And Epileptic Encephalopathy 36	Congenital Disorder Of Glycosylation Type I Epileptic Encephalopathy, Early Infantile, 36 Congenital Disorder Of Glycosylation, Type Is Cdg1s Congenital Disorder Of Glycosylation, Type Ie CDG1E Congenital Disorder Of Glycosylation Type 1e DEE36 Eiee36 Cdg Is Cdgis Congenital Disorder Of Glycosylation Ie Congenital Disorder Of Glycosylation 1e Cdg-Is Congenital Disorder Of Glycosylation Type Is Developmental And Epileptic Encephalopathy, 36 Cdg Ie Cdgie Early Infantile Epileptic Encephalopathy 36 Alg13-Cdg Cdg Syndrome Type Is Congenital Disorder Of Glycosylation Type 1s Dpm1-Cdg Cdg Syndrome Type Ie Cdg-Ie Carbohydrate Deficient Glycoprotein Syndrome Type Ie Congenital Disorder Of Glycosylation Type Ie Dol-P-Mannosyltransferase Deficiency Congenital Disorder Of Glycosylation 1s Glycosylation, Congenital Disorder Of, Type I Glycosylation, Congenital Disorder Of, Type Ie Congenital Disorder Of Glycosylation Type 1a Congenital Disorder Of Glycosylation, Type Iu
Deafness, Autosomal Dominant 24	DFNA24 Autosomal Dominant Nonsyndromic Deafness 24 Autosomal Dominant Deafness 24
Muscular Dystrophy, Limb-Girdle, Type 1h	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h LGMD1H Muscular Dystrophy Limb-Girdle Type 1h Dystrophy, Muscular, Limb-Girdle, Type 1h
Alzheimer Disease 8	Ad8 Alzheimer'S Disease 8 Alzheimer Disease, Familial, 8 Alzheimer Disease, Familial 8 Alzheimer'S Disease 8, Late Onset
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Myopathy, Congenital, Bailey-Bloch	Native American Myopathy Nam MYPBB Myopathy, Congenital, Baily-Bloch Anti-Hmg-Coa Myopathy Anti-Srp Myopathy Autoimmune Necrotizing Myositis Imnm Immune Myopathy With Myocyte Necrosis Immune-Mediated Necrotizing Myopathy Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia Necrotizing Autoimmune Myopathy Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome Congenital Myopathy With Cleft Palate And Malignant Hyperthermia
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Lgmd1g Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g LGMDD3 Muscular Dystrophy, Limb-Girdle, Type 1g Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3 Limb-Girdle Muscular Dystrophy, Type 1g Muscular Dystrophy Limb-Girdle Type 1g Hnrnpdl-Related Limb-Girdle Muscular Dystrophy D3 Hnrnpdl-Related Lgmd D3 Lgmd Type 1g Limb-Girdle Muscular Dystrophy Type 1g Limb-Girdle Muscular Dystrophy 1g Dystrophy, Muscular, Limb-Girdle, Type 1g
Muscular Dystrophy-Dystroglycanopathy , Type C, 2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n Lgmd2n MDDGC2 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14 Lgmdr14 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related Limb-Girdle Muscular Dystrophy Type 2n Muscular Dystrophy, Limb-Girdle, Type 2n Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related Muscular Dystrophy-Dystroglycanopathy Type C 2 Pomt2-Related Limb-Girdle Muscular Dystrophy R14 Lgmd Type 2n Pomt2-Related Lgmd R14 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2 Mdgd2c Dystrophy, Muscular, Limb-Girdle, Type 2n
Muscular Dystrophy-Dystroglycanopathy , Type C, 3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o MDDGC3 Lgmd2o Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15 Lgmdr15 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related Muscular Dystrophy, Limb-Girdle, Type 2o Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related Muscular Dystrophy-Dystroglycanopathy Type C3 Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15 Lgmd Type 2o Limb-Girdle Muscular Dystrophy Type 2o Pomgnt1-Related Lgmd R15 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3 Dystrophy, Muscular, Limb-Girdle, Type 2o
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q	Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Plectin Deficiency Lgmd2q Muscular Dystrophy, Limb-Girdle, Type 2q
Bethlem Myopathy 1	Bethlem Myopathy Myopathy, Benign Congenital, With Contractures Muscular Dystrophy, Benign Congenital BTHLM1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 Lgmdd5 Benign Congenital Muscular Dystrophy Benign Autosomal Dominant Myopathy Myopathy, Bethlem Myopathy, Bethlem, Type 1
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14986	TRAPPC11 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TRAPPC11	RGD	RGD:1309765
Mus musculus	TRAPPC11	MGD	MGI:2444585
Canis familiaris	TRAPPC11	VGNC	VGNC:47778
Macaca mulatta	TRAPPC11	VGNC	VGNC:79537
Bos taurus	TRAPPC11	VGNC	VGNC:36285
Felis catus	TRAPPC11	VGNC	VGNC:66509
Others	TRAPPC11	NCBI