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Protein

Tetratricopeptide repeat protein 39B

Gene

TTC39B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

EuPathDBiHostDB:ENSG00000155158.20
HGNCiHGNC:23704 TTC39B
MIMi613574 gene
neXtProtiNX_Q5VTQ0

Pathology & Biotechi

Organism-specific databases

DisGeNETi158219
OpenTargetsiENSG00000155158
PharmGKBiPA162407261

Polymorphism and mutation databases

BioMutaiTTC39B
DMDMi384872705

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002920001 – 682Tetratricopeptide repeat protein 39BAdd BLAST682

Proteomic databases

MaxQBiQ5VTQ0
PaxDbiQ5VTQ0
PeptideAtlasiQ5VTQ0
PRIDEiQ5VTQ0
ProteomicsDBi65339
65340 [Q5VTQ0-2]
65341 [Q5VTQ0-3]
65342 [Q5VTQ0-4]
65343 [Q5VTQ0-5]
65344 [Q5VTQ0-6]
65345 [Q5VTQ0-7]

PTM databases

iPTMnetiQ5VTQ0
PhosphoSitePlusiQ5VTQ0

Expressioni

Gene expression databases

BgeeiENSG00000155158
CleanExiHS_TTC39B
ExpressionAtlasiQ5VTQ0 baseline and differential
GenevisibleiQ5VTQ0 HS

Organism-specific databases

HPAiHPA054804
HPA063162

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MEOX2P502223EBI-10247626,EBI-748397

Protein-protein interaction databases

BioGridi127655, 7 interactors
DIPiDIP-62094N
IntActiQ5VTQ0, 3 interactors
STRINGi9606.ENSP00000422496

Structurei

3D structure databases

ProteinModelPortaliQ5VTQ0
SMRiQ5VTQ0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati393 – 426TPR 1Add BLAST34
Repeati626 – 659TPR 2Add BLAST34

Sequence similaritiesi

Belongs to the TTC39 family.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG3783 Eukaryota
ENOG410XS7D LUCA
GeneTreeiENSGT00390000009763
HOGENOMiHOG000016942
HOVERGENiHBG057941
InParanoidiQ5VTQ0
OMAiLAFHTYI
OrthoDBiEOG091G0NXI
PhylomeDBiQ5VTQ0
TreeFamiTF313761

Family and domain databases

InterProiView protein in InterPro
IPR019412 Iml2/TPR_39
IPR019734 TPR_repeat
IPR034305 TTC39B
PANTHERiPTHR31859 PTHR31859, 1 hit
PTHR31859:SF4 PTHR31859:SF4, 1 hit
PfamiView protein in Pfam
PF10300 DUF3808, 1 hit
PF13181 TPR_8, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 3 hits

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)DescriptionActionsGraphical viewLength
Sequence conflicti7C → Y in BAG61086 (PubMed:14702039).Curated1
Sequence conflicti329S → F in BAG61086 (PubMed:14702039).Curated1
Sequence conflicti496R → S in BAG60772 (PubMed:14702039).Curated1
Sequence conflicti500S → G in BAG60772 (PubMed:14702039).Curated1
Sequence conflicti667F → L in AAI42986 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054078128T → P. Corresponds to variant dbSNP:rs10961917Ensembl.1
Natural variantiVAR_032926420I → V2 PublicationsCorresponds to variant dbSNP:rs1407977Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0427981 – 483Missing in isoform 7. 1 PublicationAdd BLAST483
Alternative sequenceiVSP_0427991 – 165Missing in isoform 5. 1 PublicationAdd BLAST165
Alternative sequenceiVSP_0263551 – 97Missing in isoform 2. 1 PublicationAdd BLAST97
Alternative sequenceiVSP_04280092 – 161ISSHS…LLRPW → M in isoform 6. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_042801206 – 207Missing in isoform 4. 1 Publication2
Alternative sequenceiVSP_042802392 – 411GSLVL…GNLEE → VRSVFQS in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_042803484 – 495VVATN…VVTLF → MTFLWGWAGVLH in isoform 7. 1 PublicationAdd BLAST12

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]
XP_016869800.1, XM_017014311.1 [Q5VTQ0-2]
XP_016869801.1, XM_017014312.1 [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

Similar proteinsi

Entry informationi

Entry nameiTT39B_HUMAN
AccessioniPrimary (citable) accession number: Q5VTQ0
Secondary accession number(s): A5PLN1
, B4DQ10, B4DQX4, B4DW93, Q8IVR7, Q8IXZ6, Q8N267
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: April 18, 2012
Last modified: June 20, 2018
This is version 117 of the entry and version 4 of the sequence. See 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

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