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Protein

Tetratricopeptide repeat protein 9B

Gene

TTC9B

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

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 9B
Short name:
TPR repeat protein 9B
Gene namesi
Name:TTC9B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:26395. TTC9B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670684.

Polymorphism and mutation databases

BioMutaiTTC9B.
DMDMi74759948.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 239239Tetratricopeptide repeat protein 9BPRO_0000294459Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei7 – 71PhosphoserineBy similarity
Modified residuei27 – 271PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8N6N2.
PRIDEiQ8N6N2.

PTM databases

PhosphoSiteiQ8N6N2.

Expressioni

Gene expression databases

BgeeiQ8N6N2.
CleanExiHS_TTC9B.
GenevisibleiQ8N6N2. HS.

Organism-specific databases

HPAiHPA042496.

Interactioni

Protein-protein interaction databases

BioGridi127113. 5 interactions.
IntActiQ8N6N2. 1 interaction.
STRINGi9606.ENSP00000311760.

Structurei

3D structure databases

ProteinModelPortaliQ8N6N2.
SMRiQ8N6N2. Positions 65-93.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati65 – 9935TPR 1Add
BLAST
Repeati171 – 20434TPR 2Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi17 – 5034Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the TTC9 family.Curated
Contains 2 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiENOG410IF40. Eukaryota.
ENOG4111GJ5. LUCA.
GeneTreeiENSGT00390000016022.
HOGENOMiHOG000012996.
HOVERGENiHBG062451.
InParanoidiQ8N6N2.
OMAiNREPTDT.
OrthoDBiEOG7PZRZP.
PhylomeDBiQ8N6N2.
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. 3 hits.
PfamiPF07719. TPR_2. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 2 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 2 hits.
PROSITEiPS50005. TPR. 1 hit.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8N6N2-1) [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
MQRGALSPVL MLSAAPEPPP RPPPALSPPG SGPGSGSRHG SARPGPTPEP
60 70 80 90 100
SGSLGAALDS SLRAAVAFKA EGQRCYREKK FREAIGKYHR ALLQLKAAQG
110 120 130 140 150
ARPSGLPAPA PGPTSSPGPA RLSEEQRRLV ESTEVECYDS LTACLLQSEL
160 170 180 190 200
VNYERVREYC LKVLEKQQGN FKATYRAGIA FYHLGDYARA LRYLQEARSR
210 220 230
EPTDTNVLRY IQLTQLKMNR CSLQREDSGA GSQTRDVIG
Length:239
Mass (Da):25,932
Last modified:October 1, 2002 - v1
Checksum:i4976497A9B84ABD0
GO
Isoform 2 (identifier: Q8N6N2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     143-239: ACLLQSELVN...AGSQTRDVIG → GTPSGGGGMG...SLQSLIKERD

Note: No experimental confirmation available. May be due to an intron retention.
Show »
Length:192
Mass (Da):19,480
Checksum:i1110B95DA3B042D8
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti223 – 2231L → P.
Corresponds to variant rs11553464 [ dbSNP | Ensembl ].
VAR_052625

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei143 – 23997ACLLQ…RDVIG → GTPSGGGGMGHEGRGQSGEL GDLGARGPGAEGSRAVGFSG SLQSLIKERD in isoform 2. 1 PublicationVSP_026650Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054935 mRNA. Translation: BAB70830.1.
AK289550 mRNA. Translation: BAF82239.1.
AC118344 Genomic DNA. No translation available.
CH471126 Genomic DNA. Translation: EAW56938.1.
BC029539 mRNA. Translation: AAH29539.1.
CCDSiCCDS12550.1. [Q8N6N2-1]
RefSeqiNP_689692.2. NM_152479.5. [Q8N6N2-1]
UniGeneiHs.631572.

Genome annotation databases

EnsembliENST00000311308; ENSP00000311760; ENSG00000174521. [Q8N6N2-1]
GeneIDi148014.
KEGGihsa:148014.
UCSCiuc002onc.3. human. [Q8N6N2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054935 mRNA. Translation: BAB70830.1.
AK289550 mRNA. Translation: BAF82239.1.
AC118344 Genomic DNA. No translation available.
CH471126 Genomic DNA. Translation: EAW56938.1.
BC029539 mRNA. Translation: AAH29539.1.
CCDSiCCDS12550.1. [Q8N6N2-1]
RefSeqiNP_689692.2. NM_152479.5. [Q8N6N2-1]
UniGeneiHs.631572.

3D structure databases

ProteinModelPortaliQ8N6N2.
SMRiQ8N6N2. Positions 65-93.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127113. 5 interactions.
IntActiQ8N6N2. 1 interaction.
STRINGi9606.ENSP00000311760.

PTM databases

PhosphoSiteiQ8N6N2.

Polymorphism and mutation databases

BioMutaiTTC9B.
DMDMi74759948.

Proteomic databases

PaxDbiQ8N6N2.
PRIDEiQ8N6N2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311308; ENSP00000311760; ENSG00000174521. [Q8N6N2-1]
GeneIDi148014.
KEGGihsa:148014.
UCSCiuc002onc.3. human. [Q8N6N2-1]

Organism-specific databases

CTDi148014.
GeneCardsiTTC9B.
HGNCiHGNC:26395. TTC9B.
HPAiHPA042496.
neXtProtiNX_Q8N6N2.
PharmGKBiPA142670684.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF40. Eukaryota.
ENOG4111GJ5. LUCA.
GeneTreeiENSGT00390000016022.
HOGENOMiHOG000012996.
HOVERGENiHBG062451.
InParanoidiQ8N6N2.
OMAiNREPTDT.
OrthoDBiEOG7PZRZP.
PhylomeDBiQ8N6N2.
TreeFamiTF331917.

Miscellaneous databases

GenomeRNAii148014.
NextBioi85811.
PROiQ8N6N2.

Gene expression databases

BgeeiQ8N6N2.
CleanExiHS_TTC9B.
GenevisibleiQ8N6N2. 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. 3 hits.
PfamiPF07719. TPR_2. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 2 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 2 hits.
PROSITEiPS50005. TPR. 1 hit.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Cerebellum.
  2. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] (ISOFORM 1).
    Tissue: Brain.

Entry informationi

Entry nameiTTC9B_HUMAN
AccessioniPrimary (citable) accession number: Q8N6N2
Secondary accession number(s): A8K0I5, Q96NP9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: October 1, 2002
Last modified: May 11, 2016
This is version 110 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 19
    Human chromosome 19: 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.