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Protein

Trafficking protein particle complex subunit 11

Gene

TRAPPC11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

ER-Golgi transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Trafficking protein particle complex subunit 11
Gene namesi
Name:TRAPPC11
Synonyms:C4orf41
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:25751. TRAPPC11.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Limb-girdle muscular dystrophy 2S (LGMD2S)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay.
See also OMIM:615356
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti980 – 9801G → R in LGMD2S. 1 Publication
Corresponds to variant rs397509417 [ dbSNP | Ensembl ].
VAR_070158

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

MalaCardsiTRAPPC11.
MIMi615356. phenotype.
Orphaneti369840. Autosomal recessive limb-girdle muscular dystrophy type 2S.
369847. Intellectual disability-hyperkinetic movement-truncal ataxia syndrome.
PharmGKBiPA162379849.

Polymorphism and mutation databases

BioMutaiTRAPPC11.
DMDMi205696378.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11331133Trafficking protein particle complex subunit 11PRO_0000348072Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei245 – 2451N6-acetyllysineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ7Z392.
MaxQBiQ7Z392.
PaxDbiQ7Z392.
PeptideAtlasiQ7Z392.
PRIDEiQ7Z392.

PTM databases

iPTMnetiQ7Z392.
PhosphoSiteiQ7Z392.

Expressioni

Gene expression databases

BgeeiENSG00000168538.
CleanExiHS_C4orf41.
ExpressionAtlasiQ7Z392. baseline and differential.
GenevisibleiQ7Z392. HS.

Organism-specific databases

HPAiHPA045427.

Interactioni

Subunit structurei

Component of the multisubunit TRAPP (transport protein particle) complex, which includes at least TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12.1 Publication

Protein-protein interaction databases

BioGridi121957. 20 interactions.
DIPiDIP-48282N.
IntActiQ7Z392. 4 interactions.
STRINGi9606.ENSP00000335371.

Structurei

3D structure databases

ProteinModelPortaliQ7Z392.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TRAPPC11 family.Curated

Phylogenomic databases

eggNOGiKOG4386. Eukaryota.
ENOG410XSTE. LUCA.
GeneTreeiENSGT00390000006550.
HOVERGENiHBG107625.
InParanoidiQ7Z392.
KOiK20308.
OMAiVTYPNPD.
OrthoDBiEOG091G00VZ.
PhylomeDBiQ7Z392.
TreeFamiTF314022.

Family and domain databases

InterProiIPR021773. Foie-gras_1.
IPR025876. TRAPPC11_C.
[Graphical view]
PfamiPF11817. Foie-gras_1. 1 hit.
PF12742. Gryzun-like. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z392-1) [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
MSPTQWDFPV ELCCRPMAFV TLTGLDVVYN AVHRAVWDAF CANRRADRVP
60 70 80 90 100
ISFKVLPGDH EYPKCRPKRT SYEWYIPKGI LKTGWMNKHL NLVPALVVVF
110 120 130 140 150
YELDWDEPQW KEKQSECATR VEIVRQSLQG RNTKVAVVLI QKKTPLPPGE
160 170 180 190 200
DVIASERAAA LCNACELSGK SLFVLPHTDH LVGYIIRLEN AFYEHAQTYY
210 220 230 240 250
YTEIRRVKSH KEFLNKTTHQ LLFVRHQFKI AFFSELKQDT QNALKNYRTA
260 270 280 290 300
YNLVHELRAH ETNILEIKTM AGFINYKICR LCFQHNTPLD AIAQFRKHID
310 320 330 340 350
LCKKKIGSAE LSFEHDAWMS KQFQAFGDLF DEAIKLGLTA IQTQNPGFYY
360 370 380 390 400
QQAAYYAQER KQLAKTLCNH EASVMYPNPD PLETQTGVLD FYGQRSWRQG
410 420 430 440 450
ILSFDLSDPE KEKVGILAIQ LKERNVVHSE IIITLLSNAV AQFKKYKCPR
460 470 480 490 500
MKSHLMVQMG EEYYYAKDYT KALKLLDYVM CDYRSEGWWT LLTSVLTTAL
510 520 530 540 550
KCSYLMAQLK DYITYSLELL GRASTLKDDQ KSRIEKNLIN VLMNESPDPE
560 570 580 590 600
PDCDILAVKT AQKLWADRIS LAGSNIFTIG VQDFVPFVQC KAKFHAPSFH
610 620 630 640 650
VDVPVQFDIY LKADCPHPIR FSKLCVSFNN QEYNQFCVIE EASKANEVLE
660 670 680 690 700
NLTQGKMCLV PGKTRKLLFK FVAKTEDVGK KIEITSVDLA LGNETGRCVV
710 720 730 740 750
LNWQGGGGDA ASSQEALQAA RSFKRRPKLP DNEVHWDSII IQASTMIISR
760 770 780 790 800
VPNISVHLLH EPPALTNEMY CLVVTVQSHE KTQIRDVKLT AGLKPGQDAN
810 820 830 840 850
LTQKTHVTLH GTELCDESYP ALLTDIPVGD LHPGEQLEKM LYVRCGTVGS
860 870 880 890 900
RMFLVYVSYL INTTVEEKEI VCKCHKDETV TIETVFPFDV AVKFVSTKFE
910 920 930 940 950
HLERVYADIP FLLMTDLLSA SPWALTIVSS ELQLAPSMTT VDQLESQVDN
960 970 980 990 1000
VILQTGESAS ECFCLQCPSL GNIEGGVATG HYIISWKRTS AMENIPIITT
1010 1020 1030 1040 1050
VITLPHVIVE NIPLHVNADL PSFGRVRESL PVKYHLQNKT DLVQDVEISV
1060 1070 1080 1090 1100
EPSDAFMFSG LKQIRLRILP GTEQEMLYNF YPLMAGYQQL PSLNINLLRF
1110 1120 1130
PNFTNQLLRR FIPTSIFVKP QGRLMDDTSI AAA
Length:1,133
Mass (Da):128,881
Last modified:September 2, 2008 - v2
Checksum:i6048FB396E946D4A
GO
Isoform 2 (identifier: Q7Z392-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-656: Missing.
     1067-1086: RILPGTEQEMLYNFYPLMAG → PAQAFYTYQYFCQATGSTHG
     1087-1133: Missing.

Note: No experimental confirmation available.
Show »
Length:430
Mass (Da):47,632
Checksum:i727C5FC79B7310A9
GO
Isoform 3 (identifier: Q7Z392-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1067-1086: RILPGTEQEMLYNFYPLMAG → PAQAFYTYQYFCQATGSTHG
     1087-1133: Missing.

Note: No experimental confirmation available.
Show »
Length:1,086
Mass (Da):123,376
Checksum:i12B530B43141DEFE
GO
Isoform 4 (identifier: Q7Z392-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     962-1018: CFCLQCPSLG...VENIPLHVNA → LYYLLEKDLS...VVTCQVSPTE
     1019-1133: Missing.

Note: No experimental confirmation available.
Show »
Length:1,018
Mass (Da):115,985
Checksum:i077A324FCE23D967
GO

Sequence cautioni

The sequence BAB14240 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14556 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15617 differs from that shown. Reason: Erroneous termination at position 1063. Translated as Gln.Curated
The sequence BAG37533 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAB66686 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAD91169 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAD97983 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti70 – 701T → A in AAH51724 (PubMed:15489334).Curated
Sequence conflicti197 – 1971Q → L in AAH51724 (PubMed:15489334).Curated
Sequence conflicti312 – 3121S → F in AAH51724 (PubMed:15489334).Curated
Sequence conflicti397 – 3971W → R in BAG37533 (PubMed:14702039).Curated
Sequence conflicti467 – 4671K → E in AAH51724 (PubMed:15489334).Curated
Sequence conflicti544 – 5441N → K in BAB15617 (PubMed:14702039).Curated
Sequence conflicti660 – 6601V → L in AAH51724 (PubMed:15489334).Curated
Sequence conflicti661 – 6611P → L in BAB15617 (PubMed:14702039).Curated
Sequence conflicti697 – 6971R → K in CAG38584 (Ref. 4) Curated
Sequence conflicti723 – 74422Missing in BAB14556 (PubMed:14702039).CuratedAdd
BLAST
Sequence conflicti812 – 8121T → P in CAD91169 (PubMed:17974005).Curated
Sequence conflicti812 – 8121T → P in CAG38584 (Ref. 4) Curated
Sequence conflicti812 – 8121T → P in CAB66686 (PubMed:11230166).Curated
Sequence conflicti842 – 8421Y → C in BAB15617 (PubMed:14702039).Curated
Sequence conflicti865 – 8651V → I in BAB14240 (PubMed:14702039).Curated
Sequence conflicti869 – 8691E → G in BAB14556 (PubMed:14702039).Curated
Sequence conflicti1011 – 10111N → S in BAB14240 (PubMed:14702039).Curated
Sequence conflicti1030 – 10301L → S in BAB14556 (PubMed:14702039).Curated
Sequence conflicti1112 – 11121I → L in CAD97983 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti980 – 9801G → R in LGMD2S. 1 Publication
Corresponds to variant rs397509417 [ dbSNP | Ensembl ].
VAR_070158

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 656656Missing in isoform 2. 1 PublicationVSP_035095Add
BLAST
Alternative sequencei962 – 101857CFCLQ…LHVNA → LYYLLEKDLSNGEYPHHHNC HHSAARDCGEYPSPCECRSA VIWACQRVVTCQVSPTE in isoform 4. 1 PublicationVSP_035096Add
BLAST
Alternative sequencei1019 – 1133115Missing in isoform 4. 1 PublicationVSP_035097Add
BLAST
Alternative sequencei1067 – 108620RILPG…PLMAG → PAQAFYTYQYFCQATGSTHG in isoform 2 and isoform 3. 1 PublicationVSP_035098Add
BLAST
Alternative sequencei1087 – 113347Missing in isoform 2 and isoform 3. 1 PublicationVSP_035099Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL833571 mRNA. Translation: CAD91169.1. Different initiation.
BX538044 mRNA. Translation: CAD97983.1. Different initiation.
BC051724 mRNA. Translation: AAH51724.1.
BC139745 mRNA. Translation: AAI39746.1.
AK022778 mRNA. Translation: BAB14240.1. Different initiation.
AK023390 mRNA. Translation: BAB14556.1. Different initiation.
AK026992 mRNA. Translation: BAB15617.1. Sequence problems.
AK315057 mRNA. Translation: BAG37533.1. Different initiation.
CR533553 mRNA. Translation: CAG38584.1.
AL136752 mRNA. Translation: CAB66686.1. Different initiation.
CCDSiCCDS34112.1. [Q7Z392-1]
CCDS47166.1. [Q7Z392-3]
RefSeqiNP_068761.4. NM_021942.5. [Q7Z392-1]
NP_951008.1. NM_199053.2. [Q7Z392-3]
UniGeneiHs.443240.

Genome annotation databases

EnsembliENST00000334690; ENSP00000335371; ENSG00000168538. [Q7Z392-1]
ENST00000357207; ENSP00000349738; ENSG00000168538. [Q7Z392-3]
GeneIDi60684.
KEGGihsa:60684.
UCSCiuc003ivw.3. human. [Q7Z392-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL833571 mRNA. Translation: CAD91169.1. Different initiation.
BX538044 mRNA. Translation: CAD97983.1. Different initiation.
BC051724 mRNA. Translation: AAH51724.1.
BC139745 mRNA. Translation: AAI39746.1.
AK022778 mRNA. Translation: BAB14240.1. Different initiation.
AK023390 mRNA. Translation: BAB14556.1. Different initiation.
AK026992 mRNA. Translation: BAB15617.1. Sequence problems.
AK315057 mRNA. Translation: BAG37533.1. Different initiation.
CR533553 mRNA. Translation: CAG38584.1.
AL136752 mRNA. Translation: CAB66686.1. Different initiation.
CCDSiCCDS34112.1. [Q7Z392-1]
CCDS47166.1. [Q7Z392-3]
RefSeqiNP_068761.4. NM_021942.5. [Q7Z392-1]
NP_951008.1. NM_199053.2. [Q7Z392-3]
UniGeneiHs.443240.

3D structure databases

ProteinModelPortaliQ7Z392.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121957. 20 interactions.
DIPiDIP-48282N.
IntActiQ7Z392. 4 interactions.
STRINGi9606.ENSP00000335371.

PTM databases

iPTMnetiQ7Z392.
PhosphoSiteiQ7Z392.

Polymorphism and mutation databases

BioMutaiTRAPPC11.
DMDMi205696378.

Proteomic databases

EPDiQ7Z392.
MaxQBiQ7Z392.
PaxDbiQ7Z392.
PeptideAtlasiQ7Z392.
PRIDEiQ7Z392.

Protocols and materials databases

DNASUi60684.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334690; ENSP00000335371; ENSG00000168538. [Q7Z392-1]
ENST00000357207; ENSP00000349738; ENSG00000168538. [Q7Z392-3]
GeneIDi60684.
KEGGihsa:60684.
UCSCiuc003ivw.3. human. [Q7Z392-1]

Organism-specific databases

CTDi60684.
GeneCardsiTRAPPC11.
H-InvDBHIX0004658.
HGNCiHGNC:25751. TRAPPC11.
HPAiHPA045427.
MalaCardsiTRAPPC11.
MIMi614138. gene.
615356. phenotype.
neXtProtiNX_Q7Z392.
Orphaneti369840. Autosomal recessive limb-girdle muscular dystrophy type 2S.
369847. Intellectual disability-hyperkinetic movement-truncal ataxia syndrome.
PharmGKBiPA162379849.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4386. Eukaryota.
ENOG410XSTE. LUCA.
GeneTreeiENSGT00390000006550.
HOVERGENiHBG107625.
InParanoidiQ7Z392.
KOiK20308.
OMAiVTYPNPD.
OrthoDBiEOG091G00VZ.
PhylomeDBiQ7Z392.
TreeFamiTF314022.

Miscellaneous databases

ChiTaRSiTRAPPC11. human.
GenomeRNAii60684.
PROiQ7Z392.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168538.
CleanExiHS_C4orf41.
ExpressionAtlasiQ7Z392. baseline and differential.
GenevisibleiQ7Z392. HS.

Family and domain databases

InterProiIPR021773. Foie-gras_1.
IPR025876. TRAPPC11_C.
[Graphical view]
PfamiPF11817. Foie-gras_1. 1 hit.
PF12742. Gryzun-like. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTPC11_HUMAN
AccessioniPrimary (citable) accession number: Q7Z392
Secondary accession number(s): A4QPB8
, B2RCD6, Q5U5I7, Q6FI73, Q86T25, Q9H0L1, Q9H5K9, Q9H8Q1, Q9H9I7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: September 2, 2008
Last modified: September 7, 2016
This is version 96 of the entry and version 2 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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. SIMILARITY comments
    Index of protein domains and families
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

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.