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Protein

Tctex1 domain-containing protein 2

Gene

TCTEX1D2

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

Functioni

Required for proper retrograde ciliary transport.1 Publication

GO - Molecular functioni

  • dynein intermediate chain binding Source: GO_Central

GO - Biological processi

  • cilium assembly Source: GO_Central
  • regulation of cilium assembly Source: GO_Central
  • regulation of intraciliary retrograde transport Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-5620924 Intraflagellar transport

Names & Taxonomyi

Protein namesi
Recommended name:
Tctex1 domain-containing protein 2
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000213123.10
HGNCiHGNC:28482 TCTEX1D2
MIMi617353 gene
neXtProtiNX_Q8WW35

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Short-rib thoracic dysplasia 17 with or without polydactyly (SRTD17)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
See also OMIM:617405
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07855488 – 142Missing in SRTD17. 1 PublicationAdd BLAST55

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi255758
MalaCardsiTCTEX1D2
MIMi617405 phenotype
OpenTargetsiENSG00000213123
PharmGKBiPA162405435

Polymorphism and mutation databases

BioMutaiTCTEX1D2
DMDMi166987400

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003168691 – 142Tctex1 domain-containing protein 2Add BLAST142

Proteomic databases

EPDiQ8WW35
MaxQBiQ8WW35
PaxDbiQ8WW35
PeptideAtlasiQ8WW35
PRIDEiQ8WW35
ProteomicsDBi74856

PTM databases

iPTMnetiQ8WW35
PhosphoSitePlusiQ8WW35

Expressioni

Gene expression databases

BgeeiENSG00000213123 Expressed in 180 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ8WW35 baseline and differential
GenevisibleiQ8WW35 HS

Organism-specific databases

HPAiHPA049555

Interactioni

Subunit structurei

Interacts with WDR60.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi129118, 28 interactors
CORUMiQ8WW35
IntActiQ8WW35, 15 interactors
MINTiQ8WW35
STRINGi9606.ENSP00000324323

Structurei

3D structure databases

ProteinModelPortaliQ8WW35
SMRiQ8WW35
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG4108 Eukaryota
ENOG4111RVM LUCA
GeneTreeiENSGT00530000063097
HOGENOMiHOG000258424
HOVERGENiHBG073716
InParanoidiQ8WW35
KOiK22866
OMAiKECIHQV
OrthoDBiEOG091G0PRF
PhylomeDBiQ8WW35
TreeFamiTF313904

Family and domain databases

Gene3Di3.30.1140.40, 1 hit
InterProiView protein in InterPro
IPR005334 Tctex
IPR038586 Tctex-1-like_sf
PANTHERiPTHR21255 PTHR21255, 1 hit
PfamiView protein in Pfam
PF03645 Tctex-1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q8WW35-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MATSIGVSFS VGDGVPEAEK NAGEPENTYI LRPVFQQRFR PSVVKDCIHA
60 70 80 90 100
VLKEELANAE YSPEEMPQLT KHLSENIKDK LKEMGFDRYK MVVQVVIGEQ
110 120 130 140
RGEGVFMASR CFWDADTDNY THDVFMNDSL FCVVAAFGCF YY
Length:142
Mass (Da):16,122
Last modified:February 5, 2008 - v2
Checksum:i9497791BE19EFFCB
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ER86E7ER86_HUMAN
Tctex1 domain-containing protein 2
TCTEX1D2
132Annotation score:
F8WD40F8WD40_HUMAN
Tctex1 domain-containing protein 2
TCTEX1D2
45Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti55E → G in AAH21177 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07855488 – 142Missing in SRTD17. 1 PublicationAdd BLAST55

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC069257 Genomic DNA No translation available.
BC021177 mRNA Translation: AAH21177.1
CCDSiCCDS33929.1
RefSeqiNP_689986.2, NM_152773.4
UniGeneiHs.733180

Genome annotation databases

EnsembliENST00000325318; ENSP00000324323; ENSG00000213123
GeneIDi255758
KEGGihsa:255758
UCSCiuc003fwi.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC069257 Genomic DNA No translation available.
BC021177 mRNA Translation: AAH21177.1
CCDSiCCDS33929.1
RefSeqiNP_689986.2, NM_152773.4
UniGeneiHs.733180

3D structure databases

ProteinModelPortaliQ8WW35
SMRiQ8WW35
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129118, 28 interactors
CORUMiQ8WW35
IntActiQ8WW35, 15 interactors
MINTiQ8WW35
STRINGi9606.ENSP00000324323

PTM databases

iPTMnetiQ8WW35
PhosphoSitePlusiQ8WW35

Polymorphism and mutation databases

BioMutaiTCTEX1D2
DMDMi166987400

Proteomic databases

EPDiQ8WW35
MaxQBiQ8WW35
PaxDbiQ8WW35
PeptideAtlasiQ8WW35
PRIDEiQ8WW35
ProteomicsDBi74856

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325318; ENSP00000324323; ENSG00000213123
GeneIDi255758
KEGGihsa:255758
UCSCiuc003fwi.4 human

Organism-specific databases

CTDi255758
DisGeNETi255758
EuPathDBiHostDB:ENSG00000213123.10
GeneCardsiTCTEX1D2
HGNCiHGNC:28482 TCTEX1D2
HPAiHPA049555
MalaCardsiTCTEX1D2
MIMi617353 gene
617405 phenotype
neXtProtiNX_Q8WW35
OpenTargetsiENSG00000213123
PharmGKBiPA162405435
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4108 Eukaryota
ENOG4111RVM LUCA
GeneTreeiENSGT00530000063097
HOGENOMiHOG000258424
HOVERGENiHBG073716
InParanoidiQ8WW35
KOiK22866
OMAiKECIHQV
OrthoDBiEOG091G0PRF
PhylomeDBiQ8WW35
TreeFamiTF313904

Enzyme and pathway databases

ReactomeiR-HSA-5620924 Intraflagellar transport

Miscellaneous databases

ChiTaRSiTCTEX1D2 human
GenomeRNAii255758
PROiPR:Q8WW35
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000213123 Expressed in 180 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ8WW35 baseline and differential
GenevisibleiQ8WW35 HS

Family and domain databases

Gene3Di3.30.1140.40, 1 hit
InterProiView protein in InterPro
IPR005334 Tctex
IPR038586 Tctex-1-like_sf
PANTHERiPTHR21255 PTHR21255, 1 hit
PfamiView protein in Pfam
PF03645 Tctex-1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTC1D2_HUMAN
AccessioniPrimary (citable) accession number: Q8WW35
Secondary accession number(s): A6NCN5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 5, 2008
Last modified: November 7, 2018
This is version 108 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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