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Protein

Tetratricopeptide repeat protein 6

Gene

TTC6

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 6
Short name:
TPR repeat protein 6
Gene namesi
Name:TTC6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:19739. TTC6.

Pathology & Biotechi

Polymorphism and mutation databases

DMDMi37088302.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 520520Tetratricopeptide repeat protein 6PRO_0000106384Add
BLAST

Proteomic databases

PaxDbiQ86TZ1.
PRIDEiQ86TZ1.

Expressioni

Gene expression databases

BgeeiQ86TZ1.
CleanExiHS_TTC6.
ExpressionAtlasiQ86TZ1. baseline and differential.
GenevisibleiQ86TZ1. HS.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000451131.

Structurei

3D structure databases

ProteinModelPortaliQ86TZ1.
SMRiQ86TZ1. Positions 101-514.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati57 – 9034TPR 1Add
BLAST
Repeati101 – 13838TPR 2Add
BLAST
Repeati139 – 17234TPR 3Add
BLAST
Repeati176 – 20934TPR 4Add
BLAST
Repeati210 – 24334TPR 5Add
BLAST
Repeati245 – 28036TPR 6Add
BLAST
Repeati281 – 31434TPR 7Add
BLAST
Repeati320 – 34728TPR 8Add
BLAST
Repeati348 – 38134TPR 9Add
BLAST
Repeati382 – 41534TPR 10Add
BLAST
Repeati416 – 44934TPR 11Add
BLAST
Repeati450 – 48334TPR 12Add
BLAST
Repeati484 – 51734TPR 13Add
BLAST

Sequence similaritiesi

Contains 13 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG1124. Eukaryota.
COG0457. LUCA.
GeneTreeiENSGT00730000110941.
HOGENOMiHOG000132920.
InParanoidiQ86TZ1.
PhylomeDBiQ86TZ1.

Family and domain databases

Gene3Di1.25.40.10. 5 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF00515. TPR_1. 2 hits.
PF13181. TPR_8. 2 hits.
[Graphical view]
SMARTiSM00028. TPR. 12 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 3 hits.
PROSITEiPS50005. TPR. 10 hits.
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: Q86TZ1-1) [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
MMKYYDLAKF TIYQIAEMDK GLSELSPMQQ ALIYSFCENH DKAIEVLDGI
60 70 80 90 100
SWNRAEMTMC ALLAKVQMKA KRTKEAVEVL KKALDAISHS DKGPDATAIS
110 120 130 140 150
ADCLYNLGLC YMEEGNLQMT YKLAITDLTT AISMDKNSYT AFYNRALCYT
160 170 180 190 200
KIRELQMALT DYGIVLLLDA TETVKLNTFL NRGLIYVELG QYGFALEDFK
210 220 230 240 250
QAALISRTNG SLCHATAMCH HRINEFEEAV NFFTWALKIN PCFLDAYVGR
260 270 280 290 300
GNSYMEYGHD EATKQAQKDF LKALHINPAY IKARISFGYN LQAQGKFQKA
310 320 330 340 350
WNHFTIAIDT DPKNYLAYEG RAVVCLQMGN NFAAMQDINA AMKISTTAEF
360 370 380 390 400
LTNRGVIHEF MGHKQNAMKD YQDAITLNPK YSLAYFNAGN IYFHHRQFSQ
410 420 430 440 450
ASDYFSKALK FDPENEYVLM NRAITNTILK KYEEAKEDFA NVIESCPFWA
460 470 480 490 500
AVYFNRAHFY YCLKQYELAE EDLNKALSLK PNDALVYNFR AKVRGKIGLI
510 520
EEAMADYNQA LDLEDYASVI
Length:520
Mass (Da):59,379
Last modified:June 1, 2003 - v1
Checksum:i4F253FF28B54845E
GO
Isoform 2 (identifier: Q86TZ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: Missing.
     119-119: M → MAFDSFTKAV...YRGVLKYYNK
     401-456: ASDYFSKALK...PFWAAVYFNR → EESLGLAWSL...CPRDEMDFTS
     457-520: Missing.

Note: No experimental confirmation available.
Show »
Length:536
Mass (Da):60,701
Checksum:iEFCDAD2E1767CCED
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti87 – 871I → S.
Corresponds to variant rs12896790 [ dbSNP | Ensembl ].
VAR_034132
Natural varianti98 – 981A → T.
Corresponds to variant rs17768654 [ dbSNP | Ensembl ].
VAR_034133
Natural varianti140 – 1401T → I.
Corresponds to variant rs4901284 [ dbSNP | Ensembl ].
VAR_024677
Natural varianti376 – 3761T → S.
Corresponds to variant rs17107176 [ dbSNP | Ensembl ].
VAR_034134

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1717Missing in isoform 2. 1 PublicationVSP_056321Add
BLAST
Alternative sequencei119 – 1191M → MAFDSFTKAVKANPDFAESF YQRGLCKVKLHKDSSILDFN RAITLNPKHYQAYLSRVAFY GLKGRYSKAILNCNKAIKIY PESVRAYLYRGVLKYYNK in isoform 2. 1 PublicationVSP_056322
Alternative sequencei401 – 45656ASDYF…VYFNR → EESLGLAWSLSLDSFLRTGG ATFSSGVNPLQTLHRRMSIL SPLPPTCPRDEMDFTS in isoform 2. 1 PublicationVSP_056323Add
BLAST
Alternative sequencei457 – 52064Missing in isoform 2. 1 PublicationVSP_056324Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX161415 mRNA. Translation: CAD61890.1.
AL121790 Genomic DNA. No translation available.
AL136296 Genomic DNA. No translation available.
AL163151 Genomic DNA. No translation available.
AL359233 Genomic DNA. No translation available.
BC014342 mRNA. Translation: AAH14342.2.
BC103914 mRNA. Translation: AAI03915.1.
UniGeneiHs.659936.

Genome annotation databases

EnsembliENST00000267368; ENSP00000267368; ENSG00000139865. [Q86TZ1-1]
ENST00000476979; ENSP00000417788; ENSG00000139865. [Q86TZ1-1]
UCSCiuc001wuh.4. human. [Q86TZ1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX161415 mRNA. Translation: CAD61890.1.
AL121790 Genomic DNA. No translation available.
AL136296 Genomic DNA. No translation available.
AL163151 Genomic DNA. No translation available.
AL359233 Genomic DNA. No translation available.
BC014342 mRNA. Translation: AAH14342.2.
BC103914 mRNA. Translation: AAI03915.1.
UniGeneiHs.659936.

3D structure databases

ProteinModelPortaliQ86TZ1.
SMRiQ86TZ1. Positions 101-514.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000451131.

Polymorphism and mutation databases

DMDMi37088302.

Proteomic databases

PaxDbiQ86TZ1.
PRIDEiQ86TZ1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000267368; ENSP00000267368; ENSG00000139865. [Q86TZ1-1]
ENST00000476979; ENSP00000417788; ENSG00000139865. [Q86TZ1-1]
UCSCiuc001wuh.4. human. [Q86TZ1-1]

Organism-specific databases

GeneCardsiTTC6.
HGNCiHGNC:19739. TTC6.
neXtProtiNX_Q86TZ1.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1124. Eukaryota.
COG0457. LUCA.
GeneTreeiENSGT00730000110941.
HOGENOMiHOG000132920.
InParanoidiQ86TZ1.
PhylomeDBiQ86TZ1.

Miscellaneous databases

PROiQ86TZ1.

Gene expression databases

BgeeiQ86TZ1.
CleanExiHS_TTC6.
ExpressionAtlasiQ86TZ1. baseline and differential.
GenevisibleiQ86TZ1. HS.

Family and domain databases

Gene3Di1.25.40.10. 5 hits.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF00515. TPR_1. 2 hits.
PF13181. TPR_8. 2 hits.
[Graphical view]
SMARTiSM00028. TPR. 12 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 3 hits.
PROSITEiPS50005. TPR. 10 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Neuroblastoma.
  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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 198-520 (ISOFORM 1).
    Tissue: Urinary bladder.

Entry informationi

Entry nameiTTC6_HUMAN
AccessioniPrimary (citable) accession number: Q86TZ1
Secondary accession number(s): Q3SY88, Q96CE6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: June 1, 2003
Last modified: May 11, 2016
This is version 108 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 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. 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.