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Protein

Tetratricopeptide repeat protein 9A

Gene

TTC9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 9A
Short name:
TPR repeat protein 9A
Gene namesi
Name:TTC9
Synonyms:KIAA0227, TTC9A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:20267. TTC9.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134905515.

Polymorphism and mutation databases

BioMutaiTTC9.
DMDMi296453008.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 222222Tetratricopeptide repeat protein 9APRO_0000106390Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei105 – 1051Phosphoserine; in variant Ala-103Combined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ92623.
MaxQBiQ92623.
PaxDbiQ92623.
PeptideAtlasiQ92623.
PRIDEiQ92623.

PTM databases

iPTMnetiQ92623.
PhosphoSiteiQ92623.

Expressioni

Gene expression databases

BgeeiQ92623.
CleanExiHS_TTC9.
ExpressionAtlasiQ92623. baseline and differential.
GenevisibleiQ92623. HS.

Organism-specific databases

HPAiHPA047082.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000256367.

Structurei

3D structure databases

ProteinModelPortaliQ92623.
SMRiQ92623. Positions 57-221.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati56 – 8934TPR 1Add
BLAST
Repeati125 – 16036TPR 2Add
BLAST
Repeati161 – 19434TPR 3Add
BLAST

Sequence similaritiesi

Belongs to the TTC9 family.Curated
Contains 3 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiENOG410IWRH. Eukaryota.
ENOG4111HXI. LUCA.
GeneTreeiENSGT00390000016022.
HOGENOMiHOG000012996.
HOVERGENiHBG062451.
InParanoidiQ92623.
OMAiCHGRHEA.
OrthoDBiEOG7PZRZP.
PhylomeDBiQ92623.
TreeFamiTF331917.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR023566. PPIase_FKBP.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view]
PANTHERiPTHR10516. PTHR10516. 2 hits.
PfamiPF07719. TPR_2. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 3 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 1 hit.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q92623-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MERKGSAAGA KGNPSPPAAG EGQRPPPPLC VPGGGGGAPA RGQVGAAAEP
60 70 80 90 100
AELIRRAHEF KSQGAQCYKD KKFREAIGKY HRALLELKGL LPPPGERERD
110 120 130 140 150
SRPASPAGAL KPGRLSEEQS KTVEAIEIDC YNSLAACLLQ AELVNYERVK
160 170 180 190 200
EYCLKVLKKE GENFKALYRS GVAFYHLGDY DKALYYLKEA RTQQPTDTNV
210 220
IRYIQLTEMK LSRCSQREKE AM
Length:222
Mass (Da):24,379
Last modified:May 18, 2010 - v3
Checksum:i0D003880776EA85F
GO

Sequence cautioni

The sequence AAH47950.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAA13216.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti103 – 1031P → A.Combined sources2 Publications
Corresponds to variant rs4902834 [ dbSNP | Ensembl ].
VAR_060330

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D86980 mRNA. Translation: BAA13216.1. Different initiation.
AC004816 Genomic DNA. No translation available.
AL357153 Genomic DNA. No translation available.
BC047950 mRNA. Translation: AAH47950.1. Different initiation.
CCDSiCCDS45132.1.
RefSeqiNP_056166.1. NM_015351.1.
UniGeneiHs.79170.

Genome annotation databases

EnsembliENST00000256367; ENSP00000256367; ENSG00000133985.
GeneIDi23508.
KEGGihsa:23508.
UCSCiuc001xmi.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D86980 mRNA. Translation: BAA13216.1. Different initiation.
AC004816 Genomic DNA. No translation available.
AL357153 Genomic DNA. No translation available.
BC047950 mRNA. Translation: AAH47950.1. Different initiation.
CCDSiCCDS45132.1.
RefSeqiNP_056166.1. NM_015351.1.
UniGeneiHs.79170.

3D structure databases

ProteinModelPortaliQ92623.
SMRiQ92623. Positions 57-221.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000256367.

PTM databases

iPTMnetiQ92623.
PhosphoSiteiQ92623.

Polymorphism and mutation databases

BioMutaiTTC9.
DMDMi296453008.

Proteomic databases

EPDiQ92623.
MaxQBiQ92623.
PaxDbiQ92623.
PeptideAtlasiQ92623.
PRIDEiQ92623.

Protocols and materials databases

DNASUi23508.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256367; ENSP00000256367; ENSG00000133985.
GeneIDi23508.
KEGGihsa:23508.
UCSCiuc001xmi.2. human.

Organism-specific databases

CTDi23508.
GeneCardsiTTC9.
H-InvDBHIX0011778.
HGNCiHGNC:20267. TTC9.
HPAiHPA047082.
MIMi610488. gene.
neXtProtiNX_Q92623.
PharmGKBiPA134905515.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWRH. Eukaryota.
ENOG4111HXI. LUCA.
GeneTreeiENSGT00390000016022.
HOGENOMiHOG000012996.
HOVERGENiHBG062451.
InParanoidiQ92623.
OMAiCHGRHEA.
OrthoDBiEOG7PZRZP.
PhylomeDBiQ92623.
TreeFamiTF331917.

Miscellaneous databases

GenomeRNAii23508.
PROiQ92623.
SOURCEiSearch...

Gene expression databases

BgeeiQ92623.
CleanExiHS_TTC9.
ExpressionAtlasiQ92623. baseline and differential.
GenevisibleiQ92623. HS.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR023566. PPIase_FKBP.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view]
PANTHERiPTHR10516. PTHR10516. 2 hits.
PfamiPF07719. TPR_2. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 3 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 1 hit.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain."
    Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N.
    DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-103.
    Tissue: Bone marrow.
  2. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-103.
    Tissue: Brain.
  4. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-105 (VARIANT ALA-103), VARIANT [LARGE SCALE ANALYSIS] ALA-103, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiTTC9A_HUMAN
AccessioniPrimary (citable) accession number: Q92623
Secondary accession number(s): Q86WT2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: May 18, 2010
Last modified: July 6, 2016
This is version 125 of the entry and version 3 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 14
    Human chromosome 14: 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

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.