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Q49AM3

- TTC31_HUMAN

UniProt

Q49AM3 - TTC31_HUMAN

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Protein

Tetratricopeptide repeat protein 31

Gene

TTC31

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 31
Short name:
TPR repeat protein 31
Gene namesi
Name:TTC31
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:25759. TTC31.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145147843.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 519519Tetratricopeptide repeat protein 31PRO_0000281149Add
BLAST

Proteomic databases

MaxQBiQ49AM3.
PaxDbiQ49AM3.
PRIDEiQ49AM3.

PTM databases

PhosphoSiteiQ49AM3.

Expressioni

Gene expression databases

BgeeiQ49AM3.
CleanExiHS_TTC31.
ExpressionAtlasiQ49AM3. baseline and differential.
GenevestigatoriQ49AM3.

Organism-specific databases

HPAiHPA041783.

Interactioni

Protein-protein interaction databases

BioGridi122175. 1 interaction.
STRINGi9606.ENSP00000233623.

Structurei

3D structure databases

ProteinModelPortaliQ49AM3.
SMRiQ49AM3. Positions 302-401.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati305 – 33834TPR 1Add
BLAST
Repeati339 – 37234TPR 2Add
BLAST
Repeati373 – 40634TPR 3Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili147 – 19751Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 3 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat, TPR repeat

Phylogenomic databases

eggNOGiNOG305435.
GeneTreeiENSGT00750000117686.
HOGENOMiHOG000154705.
HOVERGENiHBG086296.
InParanoidiQ49AM3.
OMAiKSFLYPP.
PhylomeDBiQ49AM3.
TreeFamiTF341776.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF07719. TPR_2. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 3 hits.
[Graphical view]
PROSITEiPS50005. TPR. 2 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q49AM3) [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
MAPIPKTVGR IKLDCSLRPS CPLEVAAAPK LCKEFGPEDY GEEDIVDFLR
60 70 80 90 100
RLVESDPQGL HRIHVDGSSG RLQLWHHDYL LGHLDDEGKS TGQSDRGKGA
110 120 130 140 150
EGLGTYCGLR KSFLYPPQES EPCPQSPSAS ATFPSVSDSL LQVAMPQKLL
160 170 180 190 200
VTEEEANRLA EELVAEEERM KQKAEKKRLK KKRQKERKRQ ERLEQYCGEP
210 220 230 240 250
KASTTSDGDE SPPSSPGNPV QGQCGEEEDS LDLSSTFVSL ALRKVGDWPL
260 270 280 290 300
SARREKGLNQ EPQGRGLALQ KMGQEEESPP REERPQQSPK VQASPGLLAA
310 320 330 340 350
ALQQSQELAK LGTSFAQNGF YHEAVVLFTQ ALKLNPQDHR LFGNRSFCHE
360 370 380 390 400
RLGQPAWALA DAQVALTLRP GWPRGLFRLG KALMGLQRFR EAAAVFQETL
410 420 430 440 450
RGGSQPDAAR ELRSCLLHLT LQGQRGGICA PPLSPGALQP LPHAELAPSG
460 470 480 490 500
LPSLRCPRST ALRSPGLSPL LHYPSCHRSH PNQPLSQTQS RRPHPLKPQD
510
PSKGWDILGL GLQHLSQAR
Length:519
Mass (Da):57,105
Last modified:November 25, 2008 - v3
Checksum:iB618E043E0FBD78E
GO
Isoform 2 (identifier: Q49AM3-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     281-285: REERP → ATSPC
     286-519: Missing.

Show »
Length:285
Mass (Da):31,450
Checksum:iF8E931CF4B82D3AB
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti141 – 1411L → P in BAB14272. (PubMed:14702039)Curated
Sequence conflicti216 – 2161P → T in AAH36017. (PubMed:15489334)Curated
Sequence conflicti413 – 4131R → H in AAH36017. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti28 – 281A → V.1 Publication
Corresponds to variant rs6707475 [ dbSNP | Ensembl ].
VAR_047357
Natural varianti205 – 2051T → P.
Corresponds to variant rs35852562 [ dbSNP | Ensembl ].
VAR_047358

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei281 – 2855REERP → ATSPC in isoform 2. 2 PublicationsVSP_023990
Alternative sequencei286 – 519234Missing in isoform 2. 2 PublicationsVSP_023991Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK022850 mRNA. Translation: BAB14272.1.
AC005041 Genomic DNA. No translation available.
BC036017 mRNA. Translation: AAH36017.1.
BC096709 mRNA. Translation: AAH96709.1.
AK223355 mRNA. Translation: BAD97075.1.
CCDSiCCDS42701.1. [Q49AM3-1]
RefSeqiNP_071937.4. NM_022492.4. [Q49AM3-1]
UniGeneiHs.557709.

Genome annotation databases

EnsembliENST00000233623; ENSP00000233623; ENSG00000115282. [Q49AM3-1]
ENST00000442235; ENSP00000416823; ENSG00000115282. [Q49AM3-2]
GeneIDi64427.
KEGGihsa:64427.
UCSCiuc002slt.2. human. [Q49AM3-1]

Polymorphism databases

DMDMi215274203.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK022850 mRNA. Translation: BAB14272.1 .
AC005041 Genomic DNA. No translation available.
BC036017 mRNA. Translation: AAH36017.1 .
BC096709 mRNA. Translation: AAH96709.1 .
AK223355 mRNA. Translation: BAD97075.1 .
CCDSi CCDS42701.1. [Q49AM3-1 ]
RefSeqi NP_071937.4. NM_022492.4. [Q49AM3-1 ]
UniGenei Hs.557709.

3D structure databases

ProteinModelPortali Q49AM3.
SMRi Q49AM3. Positions 302-401.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122175. 1 interaction.
STRINGi 9606.ENSP00000233623.

PTM databases

PhosphoSitei Q49AM3.

Polymorphism databases

DMDMi 215274203.

Proteomic databases

MaxQBi Q49AM3.
PaxDbi Q49AM3.
PRIDEi Q49AM3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000233623 ; ENSP00000233623 ; ENSG00000115282 . [Q49AM3-1 ]
ENST00000442235 ; ENSP00000416823 ; ENSG00000115282 . [Q49AM3-2 ]
GeneIDi 64427.
KEGGi hsa:64427.
UCSCi uc002slt.2. human. [Q49AM3-1 ]

Organism-specific databases

CTDi 64427.
GeneCardsi GC02P074710.
HGNCi HGNC:25759. TTC31.
HPAi HPA041783.
neXtProti NX_Q49AM3.
PharmGKBi PA145147843.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG305435.
GeneTreei ENSGT00750000117686.
HOGENOMi HOG000154705.
HOVERGENi HBG086296.
InParanoidi Q49AM3.
OMAi KSFLYPP.
PhylomeDBi Q49AM3.
TreeFami TF341776.

Miscellaneous databases

GenomeRNAii 64427.
NextBioi 66433.
PROi Q49AM3.

Gene expression databases

Bgeei Q49AM3.
CleanExi HS_TTC31.
ExpressionAtlasi Q49AM3. baseline and differential.
Genevestigatori Q49AM3.

Family and domain databases

Gene3Di 1.25.40.10. 1 hit.
InterProi IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view ]
Pfami PF07719. TPR_2. 1 hit.
[Graphical view ]
SMARTi SM00028. TPR. 3 hits.
[Graphical view ]
PROSITEi PS50005. TPR. 2 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

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] (ISOFORM 2).
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [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] (ISOFORMS 1 AND 2), VARIANT VAL-28.
    Tissue: Testis.
  4. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-369.
    Tissue: Testis.

Entry informationi

Entry nameiTTC31_HUMAN
AccessioniPrimary (citable) accession number: Q49AM3
Secondary accession number(s): Q4KN40, Q53FD4, Q9H9F7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: November 25, 2008
Last modified: October 29, 2014
This is version 79 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 2
    Human chromosome 2: 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

External Data

Dasty 3