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Protein

Tetratricopeptide repeat protein 39B

Gene

TTC39B

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

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 39B
Short name:
TPR repeat protein 39B
Gene namesi
Name:TTC39B
Synonyms:C9orf52
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:23704. TTC39B.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162407261.

Polymorphism and mutation databases

BioMutaiTTC39B.
DMDMi384872705.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 682682Tetratricopeptide repeat protein 39BPRO_0000292000Add
BLAST

Proteomic databases

MaxQBiQ5VTQ0.
PaxDbiQ5VTQ0.
PeptideAtlasiQ5VTQ0.
PRIDEiQ5VTQ0.

PTM databases

iPTMnetiQ5VTQ0.
PhosphoSiteiQ5VTQ0.

Expressioni

Gene expression databases

BgeeiENSG00000155158.
CleanExiHS_TTC39B.
ExpressionAtlasiQ5VTQ0. baseline and differential.
GenevisibleiQ5VTQ0. HS.

Organism-specific databases

HPAiHPA054804.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MEOX2A4D1273EBI-10247626,EBI-10172134

Protein-protein interaction databases

BioGridi127655. 7 interactions.
IntActiQ5VTQ0. 1 interaction.
STRINGi9606.ENSP00000422496.

Structurei

3D structure databases

ProteinModelPortaliQ5VTQ0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati393 – 42634TPR 1Add
BLAST
Repeati626 – 65934TPR 2Add
BLAST

Sequence similaritiesi

Belongs to the TTC39 family.Curated
Contains 2 TPR repeats.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG3783. Eukaryota.
ENOG410XS7D. LUCA.
GeneTreeiENSGT00390000009763.
HOGENOMiHOG000016942.
HOVERGENiHBG057941.
InParanoidiQ5VTQ0.
OMAiHEIQKNK.
OrthoDBiEOG091G0NXI.
PhylomeDBiQ5VTQ0.
TreeFamiTF313761.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR019412. OMP_Iml2/TPR_39.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
IPR030416. TTC39A/B.
[Graphical view]
PANTHERiPTHR31859:SF4. PTHR31859:SF4. 1 hit.
PfamiPF10300. DUF3808. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 3 hits.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5VTQ0-1) [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
MDAVLACRLR GRGNRVAALR PRPRPGGSAG PSPFALLCAG LSPEPRAGVG
60 70 80 90 100
SEFPAWFLGG SSQRRNMALL GSRAELEADE DVFEDALETI SISSHSDMAT
110 120 130 140 150
SSLHFASCDT QQAPRQRGAS TVSSSSSTKV DLKSGLEECA VALNLFLSNK
160 170 180 190 200
FTDALELLRP WAKESMYHAL GYSTIVVLQA VLTFEQQDIQ NGISAMKDAL
210 220 230 240 250
QTCQKYRKKY TVVESFSSLL SRGSLEQLSE EEMHAEICYA ECLLQKAALT
260 270 280 290 300
FVQDENMINF IKGGLKIRTS YQIYKECLSI LHEIQKNKLQ QEFFYEFEGG
310 320 330 340 350
VKLGSGAFNL MLSLLPARII RLLEFIGFSG NRELGLLQLR EGASGRSMRS
360 370 380 390 400
ALCCLTILAF HTYISLILGT GEVNVAEAER LLAPFLQQFP NGSLVLFYHA
410 420 430 440 450
RIELLKGNLE EAQEVFQKCI SVQEEWKQFH HLCYWELMWI NVFQQNWMQA
460 470 480 490 500
YYYSDLLCKE SKWSKATYVF LKAAILSMLP EEDVVATNEN VVTLFRQVDS
510 520 530 540 550
LKQRIAGKSI PTEKFAVRKA RRYSASLPAP VKLILPALEM MYVWNGFSIV
560 570 580 590 600
SKRKDLSENL LVTVEKAEAA LQSQNFNSFS VDDECLVKLL KGCCLKNLQR
610 620 630 640 650
PLQAELCYNH VVESEKLLKY DHYLVPFTLF ELASLYKSQG EIDKAIKFLE
660 670 680
TARNNYKDYS LESRLHFRIQ AALHLWRKPS SD
Length:682
Mass (Da):76,956
Last modified:April 18, 2012 - v4
Checksum:i6A61462D635A4373
GO
Isoform 2 (identifier: Q5VTQ0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: Missing.

Note: No experimental confirmation available.
Show »
Length:585
Mass (Da):66,766
Checksum:iC5D0C28D9362B082
GO
Isoform 3 (identifier: Q5VTQ0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     392-411: GSLVLFYHARIELLKGNLEE → VRSVFQS

Show »
Length:669
Mass (Da):75,476
Checksum:i009F5C3C3A954F81
GO
Isoform 4 (identifier: Q5VTQ0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     206-207: Missing.

Show »
Length:680
Mass (Da):76,636
Checksum:i43A01F3DE014B34F
GO
Isoform 5 (identifier: Q5VTQ0-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-165: Missing.

Show »
Length:517
Mass (Da):59,465
Checksum:iB25A5DD0B3FC9B4E
GO
Isoform 6 (identifier: Q5VTQ0-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     92-161: ISSHSDMATSSLHFASCDTQQAPRQRGASTVSSSSSTKVDLKSGLEECAVALNLFLSNKFTDALELLRPW → M

Show »
Length:613
Mass (Da):69,574
Checksum:iFACE3BD334D26630
GO
Isoform 7 (identifier: Q5VTQ0-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-483: Missing.
     484-495: VVATNENVVTLF → MTFLWGWAGVLH

Show »
Length:199
Mass (Da):22,955
Checksum:iF3A0DFA41D1518C1
GO

Sequence cautioni

The sequence AAH42417 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAI42986 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC03603 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG60772 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH71481 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti7 – 71C → Y in BAG61086 (PubMed:14702039).Curated
Sequence conflicti329 – 3291S → F in BAG61086 (PubMed:14702039).Curated
Sequence conflicti496 – 4961R → S in BAG60772 (PubMed:14702039).Curated
Sequence conflicti500 – 5001S → G in BAG60772 (PubMed:14702039).Curated
Sequence conflicti667 – 6671F → L in AAI42986 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti128 – 1281T → P.
Corresponds to variant rs10961917 [ dbSNP | Ensembl ].
VAR_054078
Natural varianti420 – 4201I → V.2 Publications
Corresponds to variant rs1407977 [ dbSNP | Ensembl ].
VAR_032926

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 483483Missing in isoform 7. 1 PublicationVSP_042798Add
BLAST
Alternative sequencei1 – 165165Missing in isoform 5. 1 PublicationVSP_042799Add
BLAST
Alternative sequencei1 – 9797Missing in isoform 2. 1 PublicationVSP_026355Add
BLAST
Alternative sequencei92 – 16170ISSHS…LLRPW → M in isoform 6. 1 PublicationVSP_042800Add
BLAST
Alternative sequencei206 – 2072Missing in isoform 4. 1 PublicationVSP_042801
Alternative sequencei392 – 41120GSLVL…GNLEE → VRSVFQS in isoform 3. 1 PublicationVSP_042802Add
BLAST
Alternative sequencei484 – 49512VVATN…VVTLF → MTFLWGWAGVLH in isoform 7. 1 PublicationVSP_042803Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091187 mRNA. Translation: BAC03603.1. Different initiation.
AK298581 mRNA. Translation: BAG60772.1. Different initiation.
AK298998 mRNA. Translation: BAG61086.1.
AK301427 mRNA. Translation: BAG62955.1.
AL591393 Genomic DNA. Translation: CAH71479.1.
AL591393 Genomic DNA. Translation: CAH71481.1. Different initiation.
BC038592 mRNA. Translation: AAH38592.1.
BC042417 mRNA. Translation: AAH42417.1. Different initiation.
BC142985 mRNA. Translation: AAI42986.1. Different initiation.
CCDSiCCDS55294.1. [Q5VTQ0-5]
CCDS55295.1. [Q5VTQ0-6]
CCDS55296.1. [Q5VTQ0-3]
CCDS6477.2. [Q5VTQ0-1]
RefSeqiNP_001161811.1. NM_001168339.1. [Q5VTQ0-4]
NP_001161812.1. NM_001168340.1. [Q5VTQ0-3]
NP_001161813.1. NM_001168341.1. [Q5VTQ0-6]
NP_001161814.1. NM_001168342.1. [Q5VTQ0-5]
NP_689787.2. NM_152574.2. [Q5VTQ0-1]
XP_011516034.1. XM_011517732.2. [Q5VTQ0-2]
UniGeneiHs.563630.

Genome annotation databases

EnsembliENST00000297615; ENSP00000297615; ENSG00000155158. [Q5VTQ0-6]
ENST00000380850; ENSP00000370231; ENSG00000155158. [Q5VTQ0-3]
ENST00000507285; ENSP00000426539; ENSG00000155158. [Q5VTQ0-5]
ENST00000507993; ENSP00000423392; ENSG00000155158. [Q5VTQ0-5]
ENST00000512701; ENSP00000422496; ENSG00000155158. [Q5VTQ0-1]
GeneIDi158219.
KEGGihsa:158219.
UCSCiuc003zlr.3. human. [Q5VTQ0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091187 mRNA. Translation: BAC03603.1. Different initiation.
AK298581 mRNA. Translation: BAG60772.1. Different initiation.
AK298998 mRNA. Translation: BAG61086.1.
AK301427 mRNA. Translation: BAG62955.1.
AL591393 Genomic DNA. Translation: CAH71479.1.
AL591393 Genomic DNA. Translation: CAH71481.1. Different initiation.
BC038592 mRNA. Translation: AAH38592.1.
BC042417 mRNA. Translation: AAH42417.1. Different initiation.
BC142985 mRNA. Translation: AAI42986.1. Different initiation.
CCDSiCCDS55294.1. [Q5VTQ0-5]
CCDS55295.1. [Q5VTQ0-6]
CCDS55296.1. [Q5VTQ0-3]
CCDS6477.2. [Q5VTQ0-1]
RefSeqiNP_001161811.1. NM_001168339.1. [Q5VTQ0-4]
NP_001161812.1. NM_001168340.1. [Q5VTQ0-3]
NP_001161813.1. NM_001168341.1. [Q5VTQ0-6]
NP_001161814.1. NM_001168342.1. [Q5VTQ0-5]
NP_689787.2. NM_152574.2. [Q5VTQ0-1]
XP_011516034.1. XM_011517732.2. [Q5VTQ0-2]
UniGeneiHs.563630.

3D structure databases

ProteinModelPortaliQ5VTQ0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127655. 7 interactions.
IntActiQ5VTQ0. 1 interaction.
STRINGi9606.ENSP00000422496.

PTM databases

iPTMnetiQ5VTQ0.
PhosphoSiteiQ5VTQ0.

Polymorphism and mutation databases

BioMutaiTTC39B.
DMDMi384872705.

Proteomic databases

MaxQBiQ5VTQ0.
PaxDbiQ5VTQ0.
PeptideAtlasiQ5VTQ0.
PRIDEiQ5VTQ0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297615; ENSP00000297615; ENSG00000155158. [Q5VTQ0-6]
ENST00000380850; ENSP00000370231; ENSG00000155158. [Q5VTQ0-3]
ENST00000507285; ENSP00000426539; ENSG00000155158. [Q5VTQ0-5]
ENST00000507993; ENSP00000423392; ENSG00000155158. [Q5VTQ0-5]
ENST00000512701; ENSP00000422496; ENSG00000155158. [Q5VTQ0-1]
GeneIDi158219.
KEGGihsa:158219.
UCSCiuc003zlr.3. human. [Q5VTQ0-1]

Organism-specific databases

CTDi158219.
GeneCardsiTTC39B.
HGNCiHGNC:23704. TTC39B.
HPAiHPA054804.
MIMi613574. gene.
neXtProtiNX_Q5VTQ0.
PharmGKBiPA162407261.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3783. Eukaryota.
ENOG410XS7D. LUCA.
GeneTreeiENSGT00390000009763.
HOGENOMiHOG000016942.
HOVERGENiHBG057941.
InParanoidiQ5VTQ0.
OMAiHEIQKNK.
OrthoDBiEOG091G0NXI.
PhylomeDBiQ5VTQ0.
TreeFamiTF313761.

Miscellaneous databases

ChiTaRSiTTC39B. human.
GenomeRNAii158219.
PROiQ5VTQ0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000155158.
CleanExiHS_TTC39B.
ExpressionAtlasiQ5VTQ0. baseline and differential.
GenevisibleiQ5VTQ0. HS.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR019412. OMP_Iml2/TPR_39.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
IPR030416. TTC39A/B.
[Graphical view]
PANTHERiPTHR31859:SF4. PTHR31859:SF4. 1 hit.
PfamiPF10300. DUF3808. 1 hit.
PF13181. TPR_8. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTT39B_HUMAN
AccessioniPrimary (citable) accession number: Q5VTQ0
Secondary accession number(s): A5PLN1
, B4DQ10, B4DQX4, B4DW93, Q8IVR7, Q8IXZ6, Q8N267
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: April 18, 2012
Last modified: September 7, 2016
This is version 104 of the entry and version 4 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 9
    Human chromosome 9: 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.