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Protein

Tetratricopeptide repeat protein 23-like

Gene

TTC23L

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

Functioni

GO - Biological processi

  • response to endoplasmic reticulum stress Source: ParkinsonsUK-UCL

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 23-like
Gene namesi
Name:TTC23L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000205838.12.
HGNCiHGNC:26355. TTC23L.

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

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

DisGeNETi153657.
OpenTargetsiENSG00000205838.
PharmGKBiPA162407169.

Polymorphism and mutation databases

BioMutaiTTC23L.
DMDMi189041194.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003360801 – 361Tetratricopeptide repeat protein 23-likeAdd BLAST361

Proteomic databases

PaxDbiQ6PF05.
PeptideAtlasiQ6PF05.
PRIDEiQ6PF05.

PTM databases

PhosphoSitePlusiQ6PF05.

Expressioni

Gene expression databases

BgeeiENSG00000205838.
CleanExiHS_TTC23L.
ExpressionAtlasiQ6PF05. baseline and differential.
GenevisibleiQ6PF05. HS.

Organism-specific databases

HPAiHPA037807.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi127509. 8 interactors.
IntActiQ6PF05. 21 interactors.
STRINGi9606.ENSP00000422188.

Structurei

3D structure databases

ProteinModelPortaliQ6PF05.
SMRiQ6PF05.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili67 – 95Sequence analysisAdd BLAST29
Coiled coili176 – 209Sequence analysisAdd BLAST34
Coiled coili256 – 283Sequence analysisAdd BLAST28

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJRU. Eukaryota.
ENOG410XVCY. LUCA.
GeneTreeiENSGT00530000063847.
HOGENOMiHOG000154700.
HOVERGENiHBG108608.
InParanoidiQ6PF05.
OMAiEFCKWLV.
OrthoDBiEOG091G08RQ.
PhylomeDBiQ6PF05.
TreeFamiTF332604.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
1.25.40.10. 1 hit.
InterProiView protein in InterPro
IPR011990. TPR-like_helical_dom.
IPR011991. WHTH_DNA-bd_dom.
SUPFAMiSSF48452. SSF48452. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6PF05-1) [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
MQASPIRIPT VSNDIDWDFC FHMSQQTEIP AHQQTDELYP TGGCGESEEE
60 70 80 90 100
TKAKEKEKAI DCMSHPKEKL AQSQKKVAQL IKEKMNTQAN KELIRCVILS
110 120 130 140 150
RIIFGDHHWK CARALANLAY GYLTLRGLPV QAKKHATSAK NTLLTWKANT
160 170 180 190 200
TSNKEKEEIL EALVKLYYTL GVAWLLQNRG REAYFNLQKA ERNMKELKEL
210 220 230 240 250
YKGGVCELQV SENDLTLALG RASLAIHRLN LALAYFEKAI GDVIAAKGDR
260 270 280 290 300
TSDLISLYEE AAQIEQLRRN HNQAIQYLQQ AHSVCVSLFT EVSPKTAEMS
310 320 330 340 350
ALLAKAYAMS GEAQHRDAVE IYFIRSINAY RATLGSEDFE TLSTTEEFCK
360
WLVQNGEKQD K
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Length:361
Mass (Da):40,837
Last modified:May 20, 2008 - v2
Checksum:i7CF14641AD301D40
GO
Isoform 2 (identifier: Q6PF05-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     281-287: AHSVCVS → MLLRYIS
     288-361: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:287
Mass (Da):32,681
Checksum:i4108DAE482B62BB0
GO
Isoform 3 (identifier: Q6PF05-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     359-361: QDK → QIFQKRRYKHDHKRHEKMFNPISHRGNANENHHTDTRVV

Note: No experimental confirmation available.
Show »
Length:397
Mass (Da):45,311
Checksum:iB70A83133174F2BF
GO

Sequence cautioni

The sequence AK097766 differs from that shown. Reason: Frameshift at position 52.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti115L → P in BAB71699 (PubMed:14702039).Curated1
Sequence conflicti171G → A in AK097766 (PubMed:14702039).Curated1
Sequence conflicti271H → Y in AAR92152 (Ref. 3) Curated1
Sequence conflicti287S → P in AK097766 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04353922H → R1 PublicationCorresponds to variant dbSNP:rs6451173Ensembl.1
Natural variantiVAR_04354067K → E. Corresponds to variant dbSNP:rs6866035Ensembl.1
Natural variantiVAR_043541150T → M. Corresponds to variant dbSNP:rs34566695Ensembl.1
Natural variantiVAR_043542153N → D. Corresponds to variant dbSNP:rs35769440Ensembl.1
Natural variantiVAR_043543247K → N. Corresponds to variant dbSNP:rs34702907Ensembl.1
Natural variantiVAR_043544325R → K. Corresponds to variant dbSNP:rs35665026Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_033814281 – 287AHSVCVS → MLLRYIS in isoform 2. 1 Publication7
Alternative sequenceiVSP_033815288 – 361Missing in isoform 2. 1 PublicationAdd BLAST74
Alternative sequenceiVSP_033816359 – 361QDK → QIFQKRRYKHDHKRHEKMFN PISHRGNANENHHTDTRVV in isoform 3. 1 Publication3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
JN799997 mRNA. Translation: AER93257.1.
AK058168 mRNA. Translation: BAB71699.1.
AK097766 mRNA. No translation available.
AY498865 mRNA. Translation: AAR92152.1.
AC026801 Genomic DNA. No translation available.
BC057775 mRNA. Translation: AAH57775.1.
CCDSiCCDS54840.1. [Q6PF05-1]
RefSeqiNP_001304878.1. NM_001317949.1.
NP_653326.3. NM_144725.3. [Q6PF05-1]
UniGeneiHs.435742.

Genome annotation databases

EnsembliENST00000502674; ENSP00000425242; ENSG00000205838. [Q6PF05-2]
ENST00000505624; ENSP00000422188; ENSG00000205838. [Q6PF05-1]
ENST00000610313; ENSP00000484792; ENSG00000205838. [Q6PF05-2]
GeneIDi153657.
KEGGihsa:153657.
UCSCiuc003jiu.4. human. [Q6PF05-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTT23L_HUMAN
AccessioniPrimary (citable) accession number: Q6PF05
Secondary accession number(s): G8IJH6
, Q6RGS4, Q8N7R3, Q96LJ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 20, 2008
Last modified: September 27, 2017
This is version 111 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. Human chromosome 5
    Human chromosome 5: 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