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Q8TF17 (S3TC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
SH3 domain and tetratricopeptide repeat-containing protein 2
Gene names
Name:SH3TC2
Synonyms:KIAA1985
ORF Names:PP12494
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1288 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Tissue specificity

Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and sciatic nerve. Weakly expressed in striated muscle. Ref.1

Involvement in disease

Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Mononeuropathy of the median nerve mild (MNMN) [MIM:613353]: A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Contains 1 SH3 domain.

Contains 8 TPR repeats.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TF17-1)

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.
Isoform 2 (identifier: Q8TF17-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1138: Missing.
     1139-1159: LEGYEKALEFATLAARLSTVT → MSEQMMQSVGCRISLSVFQFL
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8TF17-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1138: Missing.
     1139-1159: LEGYEKALEFATLAARLSTVT → MSEQMMQSVGCRISLSVFQFL
     1226-1288: DAHDATEYFL...RWLSGGGLAL → VRARLPRFPD...GGAEKTRVPR
Note: No experimental confirmation available.
Isoform 4 (identifier: Q8TF17-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-453: Missing.
     959-1049: QLQATKSLCH...TDKAAEAWLG → KYVPCCWEAI...WSPWGSFIGT
     1050-1288: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12881288SH3 domain and tetratricopeptide repeat-containing protein 2
PRO_0000106356

Regions

Domain268 – 33164SH3
Repeat528 – 56134TPR 1
Repeat757 – 79034TPR 2
Repeat836 – 86934TPR 3
Repeat1001 – 103737TPR 4
Repeat1084 – 111835TPR 5
Repeat1119 – 115234TPR 6
Repeat1166 – 119934TPR 7
Repeat1210 – 124435TPR 8

Natural variations

Alternative sequence1 – 11381138Missing in isoform 2 and isoform 3.
VSP_009884
Alternative sequence1 – 453453Missing in isoform 4.
VSP_009881
Alternative sequence959 – 104991QLQAT…EAWLG → KYVPCCWEAIERSVGSSFIH FLSQVISFMSLLCVQVSFRP PNPSAISTALCPQTLRHASP TMSTGWPWLSNSGTGRWKEG CWSPWGSFIGT in isoform 4.
VSP_009882
Alternative sequence1050 – 1288239Missing in isoform 4.
VSP_009883
Alternative sequence1139 – 115921LEGYE…LSTVT → MSEQMMQSVGCRISLSVFQF L in isoform 2 and isoform 3.
VSP_009885
Alternative sequence1226 – 128863DAHDA…GGLAL → VRARLPRFPDSHHPTILLPD SKTMRSLCGGAEKTRVPR in isoform 3.
VSP_009886
Natural variant1691Y → H in MNMN. Ref.7
VAR_064421
Natural variant1711G → E.
Corresponds to variant rs17722293 [ dbSNP | Ensembl ].
VAR_052622
Natural variant4681A → S. Ref.5 Ref.6
Corresponds to variant rs6875902 [ dbSNP | Ensembl ].
VAR_018267
Natural variant5291R → Q in CMT4C; homozygous in 2 unrelated Turkish patients; also found in 1 of 320 Turkish control chromosomes. Ref.1
VAR_018268
Natural variant6571E → K in CMT4C; homozygous in a Turkish patient. Ref.1
VAR_018269
Natural variant6581R → C in CMT4C; heterozygous in one German patient with affected sibling. Ref.1
VAR_018270
Natural variant6961H → R.
Corresponds to variant rs17109261 [ dbSNP | Ensembl ].
VAR_052623

Experimental info

Sequence conflict3341M → R in BAB85571. Ref.6
Sequence conflict11581V → I in BAB85571. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 13, 2004. Version 2.
Checksum: 0E7C1B87480207B4

FASTA1,288144,777
        10         20         30         40         50         60 
MGGCFCIPRE RSLTRGPGKE TPSKDPTVSS ECIASSEYKE KCFLPQNINP DLTLSFCVKS 

        70         80         90        100        110        120 
RSRRCVNGPL QEAARRRLWA LENEDQEVRM LFKDLSARLV SIQSQRAQFL ITFKTMEEIW 

       130        140        150        160        170        180 
KFSTYLNLGY VSMCLEHLLF DHKYWLNCIL VEDTEIQVSV DDKHLETIYL GLLIQEGHFF 

       190        200        210        220        230        240 
CRALCSVTPP AEKEGECLTL CKNELISVKM AEAGSELEGV SLVTGQRGLV LVSALEPLPL 

       250        260        270        280        290        300 
PFHQWFLKNY PGSCGLSRKR DWTGSYQIGR GRCKALTGYE PGEKDELNFY QGESIEIIGF 

       310        320        330        340        350        360 
VIPGLQWFIG KSTSSGQVGF VPTRNIDPDS YSPMSRNSAF LSDEERCSLL ALGSDKQTEC 

       370        380        390        400        410        420 
SSFLHTLART DITSVYRLSG FESIQNPPND LSASQPEGFK EVRPGRAWEE HQAVGSRQSS 

       430        440        450        460        470        480 
SSEDSSLEEE LLSATSDSYR LPEPDDLDDP ELLMDLSTGQ EEEAENFAPI LAFLDHEGYA 

       490        500        510        520        530        540 
DHFKSLYDFS FSFLTSSFYS FSEEDEFVAY LEASRKWAKK SHMTWAHARL CFLLGRLSIR 

       550        560        570        580        590        600 
KVKLSQARVY FEEAIHILNG AFEDLSLVAT LYINLAAIYL KQRLRHKGSA LLEKAGALLA 

       610        620        630        640        650        660 
CLPDRESSAK HELDVVAYVL RQGIVVGSSP LEARACFLAI RLLLSLGRHE EVLPFAERLQ 

       670        680        690        700        710        720 
LLSGHPPASE AVASVLSFLY DKKYLPHLAV ASVQQHGIQS AQGMSLPIWQ VHLVLQNTTK 

       730        740        750        760        770        780 
LLGFPSPGWG EVSALACPML RQALAACEEL ADRSTQRALC LILSKVYLEH RSPDGAIHYL 

       790        800        810        820        830        840 
SQALVLGQLL GEQESFESSL CLAWAYLLAS QAKKALDVLE PLLCSLKETE SLTQRGVIYN 

       850        860        870        880        890        900 
LLGLALQGEG RVNRAAKSYL RALNRAQEVG DVHNQAVAMA NLGHLSLKSW AQHPARNYLL 

       910        920        930        940        950        960 
QAVRLYCELQ ASKETDMELV QVFLWLAQVL VSGHQLTHGL LCYEMALLFG LRHRHLKSQL 

       970        980        990       1000       1010       1020 
QATKSLCHFY SSVSPNPEAC ITYHEHWLAL AQQLRDREME GRLLESLGQL YRNLNTARSL 

      1030       1040       1050       1060       1070       1080 
RRSLTCIKES LRIFIDLGET DKAAEAWLGA GRLHYLMQED ELVELCLQAA IQTALKSEEP 

      1090       1100       1110       1120       1130       1140 
LLALKLYEEA GDVFFNGTRH RHHAVEYYRA GAVPLARRLK AVRTELRIFN KLTELQISLE 

      1150       1160       1170       1180       1190       1200 
GYEKALEFAT LAARLSTVTG DQRQELVAFH RLATVYYSLH MYEMAEDCYL KTLSLCPPWL 

      1210       1220       1230       1240       1250       1260 
QSPKEALYYA KVYYRLGRLT FCQLKDAHDA TEYFLLALAA AVLLGDEELQ DTIRSRLDNI 

      1270       1280 
CQSPLWHSRP SGCSSERARW LSGGGLAL 

« Hide

Isoform 2 [UniParc].

Checksum: 8A0BFC9B8FCCDC27
Show »

FASTA15017,155
Isoform 3 [UniParc].

Checksum: BFE110205D4C92EA
Show »

FASTA12514,597
Isoform 4 [UniParc].

Checksum: B50F2AA6E12879C5
Show »

FASTA59666,341

References

« Hide 'large scale' references
[1]"Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy."
Senderek J., Bergmann C., Stendel C., Kirfel J., Verpoorten N., De Jonghe P., Timmerman V., Chrast R., Verheijen M.H.G., Lemke G., Battaloglu E., Parman Y., Erdem S., Tan E., Topaloglu H., Hahn A., Mueller-Felber W., Rizzuto N. expand/collapse author list , Fabrizi G.M., Stuhrmann M., Rudnik-Schoeneborn S., Zuechner S., Schroeder J.M., Buchheim E., Straub V., Klepper J., Huehne K., Rautenstrauss B., Buettner R., Nelis E., Zerres K.
Am. J. Hum. Genet. 73:1106-1119(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS CMT4C GLN-529; LYS-657 AND CYS-658.
Tissue: Sciatic nerve.
[2]"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. expand/collapse author list , 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 2 AND 4).
Tissue: Hippocampus.
[3]"Large-scale cDNA transfection screening for genes related to cancer development and progression."
Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. expand/collapse author list , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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), VARIANT SER-468.
[6]"Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins."
Nagase T., Kikuno R., Ohara O.
DNA Res. 8:319-327(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 334-1288 (ISOFORM 1), VARIANT SER-468.
Tissue: Brain.
[7]"Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy."
Lupski J.R., Reid J.G., Gonzaga-Jauregui C., Rio Deiros D., Chen D.C., Nazareth L., Bainbridge M., Dinh H., Jing C., Wheeler D.A., McGuire A.L., Zhang F., Stankiewicz P., Halperin J.J., Yang C., Gehman C., Guo D., Irikat R.K. expand/collapse author list , Tom W., Fantin N.J., Muzny D.M., Gibbs R.A.
N. Engl. J. Med. 362:1181-1191(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MNMN HIS-169.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY341075 mRNA. Translation: AAR03497.1.
AK124854 mRNA. Translation: BAG54107.1.
AK127248 mRNA. Translation: BAC86899.1.
AK023667 mRNA. Translation: BAB14631.1.
AF370410 mRNA. Translation: AAQ15246.1.
CH471062 Genomic DNA. Translation: EAW61796.1.
BC113879 mRNA. Translation: AAI13880.1.
AB075865 mRNA. Translation: BAB85571.1.
RefSeqNP_078853.2. NM_024577.3.
UniGeneHs.483784.

3D structure databases

ProteinModelPortalQ8TF17.
SMRQ8TF17. Positions 733-1202.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122758. 1 interaction.
STRING9606.ENSP00000313025.

PTM databases

PhosphoSiteQ8TF17.

Polymorphism databases

DMDM46396469.

Proteomic databases

PaxDbQ8TF17.
PRIDEQ8TF17.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000502274; ENSP00000421092; ENSG00000169247. [Q8TF17-2]
ENST00000515425; ENSP00000423660; ENSG00000169247. [Q8TF17-1]
GeneID79628.
KEGGhsa:79628.
UCSCuc003lpt.3. human. [Q8TF17-1]

Organism-specific databases

CTD79628.
GeneCardsGC05M148303.
HGNCHGNC:29427. SH3TC2.
HPAHPA037684.
MIM601596. phenotype.
608206. gene.
613353. phenotype.
neXtProtNX_Q8TF17.
Orphanet99949. Charcot-Marie-Tooth disease type 4C.
PharmGKBPA134951912.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0457.
HOVERGENHBG054553.
InParanoidQ8TF17.
OMAEHLLFDH.
PhylomeDBQ8TF17.
TreeFamTF333167.

Gene expression databases

ArrayExpressQ8TF17.
BgeeQ8TF17.
CleanExHS_SH3TC2.
GenevestigatorQ8TF17.

Family and domain databases

Gene3D1.25.40.10. 3 hits.
InterProIPR001452. SH3_domain.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamPF00515. TPR_1. 1 hit.
[Graphical view]
SMARTSM00326. SH3. 1 hit.
SM00028. TPR. 3 hits.
[Graphical view]
SUPFAMSSF50044. SSF50044. 1 hit.
PROSITEPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSH3TC2.
GenomeRNAi79628.
NextBio68717.
PROQ8TF17.
SOURCESearch...

Entry information

Entry nameS3TC2_HUMAN
AccessionPrimary (citable) accession number: Q8TF17
Secondary accession number(s): B3KWE5, Q14CF5, Q9H8I5
Entry history
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 13, 2004
Last modified: April 16, 2014
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM