TRAPPC11 - trafficking protein particle complex subunit 11 Gene

Homo sapiens

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

Gene ID: 60684 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21525244	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

Bioactive Molecules (1)

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