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Protein

Tetratricopeptide repeat protein 22

Gene

TTC22

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 22
Short name:
TPR repeat protein 22
Gene namesi
Name:TTC22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:26067. TTC22.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000006555.
PharmGKBiPA142670674.

Polymorphism and mutation databases

BioMutaiTTC22.
DMDMi74745799.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002630981 – 569Tetratricopeptide repeat protein 22Add BLAST569

Proteomic databases

PaxDbiQ5TAA0.
PeptideAtlasiQ5TAA0.
PRIDEiQ5TAA0.

PTM databases

iPTMnetiQ5TAA0.
PhosphoSitePlusiQ5TAA0.

Expressioni

Gene expression databases

BgeeiENSG00000006555.
CleanExiHS_TTC22.
ExpressionAtlasiQ5TAA0. baseline and differential.
GenevisibleiQ5TAA0. HS.

Organism-specific databases

HPAiHPA035072.

Structurei

3D structure databases

ProteinModelPortaliQ5TAA0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati66 – 99TPR 1Add BLAST34
Repeati101 – 133TPR 2Add BLAST33
Repeati203 – 237TPR 3Add BLAST35
Repeati260 – 294TPR 4Add BLAST35
Repeati295 – 328TPR 5Add BLAST34
Repeati383 – 418TPR 6Add BLAST36
Repeati432 – 465TPR 7Add BLAST34

Sequence similaritiesi

Contains 7 TPR repeats.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiENOG410IG44. Eukaryota.
ENOG410XS9G. LUCA.
GeneTreeiENSGT00390000007658.
HOGENOMiHOG000232031.
HOVERGENiHBG080526.
InParanoidiQ5TAA0.
OMAiACFKRAV.
OrthoDBiEOG091G03YG.
PhylomeDBiQ5TAA0.
TreeFamiTF331828.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiIPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
SMARTiSM00028. TPR. 3 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 4 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5TAA0-1) [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
MAELEAVADD LDALIDDLDY LPGHFHLEMQ LNFEPRSPAP QRARDLKLQR
60 70 80 90 100
EGLRQELQLA AAPQRPAVRH LLGAFAFYLE ELDEARECFL EVAHEHPGNL
110 120 130 140 150
NAWANLAHVY GRLGQEEEEE ACAARLADLM GLAEEPEAAG DPQLRAARCL
160 170 180 190 200
AEQGYAHGFD VGCASPEERA RGLAAGIALY DKALGYGQQI PMEEKRGWYF
210 220 230 240 250
TMATLYIRLD GIFLELGSEE QKRLPAFNRT LALLRQVLKS EDPRHRALAW
260 270 280 290 300
CYLGMLLERK DTFSTTPMGV HDCGYSGTDP LDCFGKAIEI AKNQPPILNR
310 320 330 340 350
LAKIFYFLGK QDMAIGTCNM ALDVLRDPEL NWQAYCTRAK IHIRAYLHDL
360 370 380 390 400
KRAKMGLGGM PDRNHLACAK ADLEEVVRVC PGFKAYLDIG QVYYYMGVDA
410 420 430 440 450
VQELLAVDEA ALNQALVFLA KAGESELGAT LPELQLLRGK CLRIKGEDAN
460 470 480 490 500
AAACFKRAVE LDDAGSSHTD GFGCLLEALL AQWSQAQLSD GELGREVDAW
510 520 530 540 550
LRRAQDKYPA ARLRQELQRV WRGHTDEVLG LARALVAQGR PALVRLLFET
560
MEREGEGASA PRDRRAVSF
Length:569
Mass (Da):63,361
Last modified:December 21, 2004 - v1
Checksum:i95AFA00228FF6402
GO
Isoform 2 (identifier: Q5TAA0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     341-372: IHIRAYLHDLKRAKMGLGGMPDRNHLACAKAD → RRGLTMLPRLVSNSWAQAVLPPRPPKVLEFQV
     373-569: Missing.

Note: No experimental confirmation available.
Show »
Length:372
Mass (Da):41,790
Checksum:i79C116A687D3C5E4
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti229R → H in BAA91293 (PubMed:14702039).Curated1
Sequence conflicti324V → A in BAA91293 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02958514L → V.Corresponds to variant rs671108dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_021859341 – 372IHIRA…CAKAD → RRGLTMLPRLVSNSWAQAVL PPRPPKVLEFQV in isoform 2. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_021860373 – 569Missing in isoform 2. 1 PublicationAdd BLAST197

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000626 mRNA. Translation: BAA91293.1.
AL139244, AC096536 Genomic DNA. Translation: CAI18990.1.
CCDSiCCDS44152.1. [Q5TAA0-1]
CCDS598.1. [Q5TAA0-2]
RefSeqiNP_001107580.1. NM_001114108.1. [Q5TAA0-1]
NP_060374.2. NM_017904.3. [Q5TAA0-2]
UniGeneiHs.16230.

Genome annotation databases

EnsembliENST00000371274; ENSP00000360321; ENSG00000006555. [Q5TAA0-2]
ENST00000371276; ENSP00000360323; ENSG00000006555. [Q5TAA0-1]
GeneIDi55001.
KEGGihsa:55001.
UCSCiuc001cxz.5. human. [Q5TAA0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000626 mRNA. Translation: BAA91293.1.
AL139244, AC096536 Genomic DNA. Translation: CAI18990.1.
CCDSiCCDS44152.1. [Q5TAA0-1]
CCDS598.1. [Q5TAA0-2]
RefSeqiNP_001107580.1. NM_001114108.1. [Q5TAA0-1]
NP_060374.2. NM_017904.3. [Q5TAA0-2]
UniGeneiHs.16230.

3D structure databases

ProteinModelPortaliQ5TAA0.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

iPTMnetiQ5TAA0.
PhosphoSitePlusiQ5TAA0.

Polymorphism and mutation databases

BioMutaiTTC22.
DMDMi74745799.

Proteomic databases

PaxDbiQ5TAA0.
PeptideAtlasiQ5TAA0.
PRIDEiQ5TAA0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371274; ENSP00000360321; ENSG00000006555. [Q5TAA0-2]
ENST00000371276; ENSP00000360323; ENSG00000006555. [Q5TAA0-1]
GeneIDi55001.
KEGGihsa:55001.
UCSCiuc001cxz.5. human. [Q5TAA0-1]

Organism-specific databases

CTDi55001.
GeneCardsiTTC22.
HGNCiHGNC:26067. TTC22.
HPAiHPA035072.
neXtProtiNX_Q5TAA0.
OpenTargetsiENSG00000006555.
PharmGKBiPA142670674.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG44. Eukaryota.
ENOG410XS9G. LUCA.
GeneTreeiENSGT00390000007658.
HOGENOMiHOG000232031.
HOVERGENiHBG080526.
InParanoidiQ5TAA0.
OMAiACFKRAV.
OrthoDBiEOG091G03YG.
PhylomeDBiQ5TAA0.
TreeFamiTF331828.

Miscellaneous databases

GenomeRNAii55001.
PROiQ5TAA0.

Gene expression databases

BgeeiENSG00000006555.
CleanExiHS_TTC22.
ExpressionAtlasiQ5TAA0. baseline and differential.
GenevisibleiQ5TAA0. HS.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiIPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
SMARTiSM00028. TPR. 3 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 4 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiTTC22_HUMAN
AccessioniPrimary (citable) accession number: Q5TAA0
Secondary accession number(s): Q9NWT4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: December 21, 2004
Last modified: November 2, 2016
This is version 99 of the entry and version 1 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 1
    Human chromosome 1: 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. SIMILARITY comments
    Index of protein domains and families

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.