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Q8TF17

- S3TC2_HUMAN

UniProt

Q8TF17 - S3TC2_HUMAN

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Protein

SH3 domain and tetratricopeptide repeat-containing protein 2

Gene

SH3TC2

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

Functioni

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. peripheral nervous system myelin maintenance Source: Ensembl
  3. regulation of ERBB signaling pathway Source: Ensembl
  4. regulation of intracellular protein transport Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
SH3 domain and tetratricopeptide repeat-containing protein 2
Gene namesi
Name:SH3TC2
Synonyms:KIAA1985
ORF Names:PP12494
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:29427. SH3TC2.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasmic vesicle Source: Ensembl
  2. plasma membrane Source: Ensembl
  3. recycling endosome Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti529 – 5291R → Q in CMT4C; homozygous in 2 unrelated Turkish patients; also found in 1 of 320 Turkish control chromosomes. 1 Publication
VAR_018268
Natural varianti657 – 6571E → K in CMT4C; homozygous in a Turkish patient. 1 Publication
VAR_018269
Natural varianti658 – 6581R → C in CMT4C; heterozygous in one German patient with affected sibling. 1 Publication
VAR_018270
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti169 – 1691Y → H in MNMN. 1 Publication
VAR_064421

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

MIMi601596. phenotype.
613353. phenotype.
Orphaneti99949. Charcot-Marie-Tooth disease type 4C.
PharmGKBiPA134951912.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12881288SH3 domain and tetratricopeptide repeat-containing protein 2PRO_0000106356Add
BLAST

Proteomic databases

PaxDbiQ8TF17.
PRIDEiQ8TF17.

PTM databases

PhosphoSiteiQ8TF17.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ8TF17.
CleanExiHS_SH3TC2.
ExpressionAtlasiQ8TF17. baseline and differential.
GenevestigatoriQ8TF17.

Organism-specific databases

HPAiHPA037684.

Interactioni

Protein-protein interaction databases

BioGridi122758. 1 interaction.
STRINGi9606.ENSP00000313025.

Structurei

3D structure databases

ProteinModelPortaliQ8TF17.
SMRiQ8TF17. Positions 272-328, 634-660, 1129-1195.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini268 – 33164SH3PROSITE-ProRule annotationAdd
BLAST
Repeati528 – 56134TPR 1Add
BLAST
Repeati757 – 79034TPR 2Add
BLAST
Repeati836 – 86934TPR 3Add
BLAST
Repeati1001 – 103737TPR 4Add
BLAST
Repeati1084 – 111835TPR 5Add
BLAST
Repeati1119 – 115234TPR 6Add
BLAST
Repeati1166 – 119934TPR 7Add
BLAST
Repeati1210 – 124435TPR 8Add
BLAST

Sequence similaritiesi

Contains 1 SH3 domain.PROSITE-ProRule annotation
Contains 8 TPR repeats.Curated

Keywords - Domaini

Repeat, SH3 domain, TPR repeat

Phylogenomic databases

eggNOGiCOG0457.
GeneTreeiENSGT00530000063812.
HOVERGENiHBG054553.
InParanoidiQ8TF17.
OMAiEHLLFDH.
PhylomeDBiQ8TF17.
TreeFamiTF333167.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiIPR001452. SH3_domain.
IPR011990. TPR-like_helical_dom.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF14604. SH3_9. 1 hit.
PF00515. TPR_1. 1 hit.
[Graphical view]
SMARTiSM00326. SH3. 1 hit.
SM00028. TPR. 3 hits.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8TF17-1) [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
MGGCFCIPRE RSLTRGPGKE TPSKDPTVSS ECIASSEYKE KCFLPQNINP
60 70 80 90 100
DLTLSFCVKS RSRRCVNGPL QEAARRRLWA LENEDQEVRM LFKDLSARLV
110 120 130 140 150
SIQSQRAQFL ITFKTMEEIW KFSTYLNLGY VSMCLEHLLF DHKYWLNCIL
160 170 180 190 200
VEDTEIQVSV DDKHLETIYL GLLIQEGHFF CRALCSVTPP AEKEGECLTL
210 220 230 240 250
CKNELISVKM AEAGSELEGV SLVTGQRGLV LVSALEPLPL PFHQWFLKNY
260 270 280 290 300
PGSCGLSRKR DWTGSYQIGR GRCKALTGYE PGEKDELNFY QGESIEIIGF
310 320 330 340 350
VIPGLQWFIG KSTSSGQVGF VPTRNIDPDS YSPMSRNSAF LSDEERCSLL
360 370 380 390 400
ALGSDKQTEC SSFLHTLART DITSVYRLSG FESIQNPPND LSASQPEGFK
410 420 430 440 450
EVRPGRAWEE HQAVGSRQSS SSEDSSLEEE LLSATSDSYR LPEPDDLDDP
460 470 480 490 500
ELLMDLSTGQ EEEAENFAPI LAFLDHEGYA DHFKSLYDFS FSFLTSSFYS
510 520 530 540 550
FSEEDEFVAY LEASRKWAKK SHMTWAHARL CFLLGRLSIR KVKLSQARVY
560 570 580 590 600
FEEAIHILNG AFEDLSLVAT LYINLAAIYL KQRLRHKGSA LLEKAGALLA
610 620 630 640 650
CLPDRESSAK HELDVVAYVL RQGIVVGSSP LEARACFLAI RLLLSLGRHE
660 670 680 690 700
EVLPFAERLQ LLSGHPPASE AVASVLSFLY DKKYLPHLAV ASVQQHGIQS
710 720 730 740 750
AQGMSLPIWQ VHLVLQNTTK LLGFPSPGWG EVSALACPML RQALAACEEL
760 770 780 790 800
ADRSTQRALC LILSKVYLEH RSPDGAIHYL SQALVLGQLL GEQESFESSL
810 820 830 840 850
CLAWAYLLAS QAKKALDVLE PLLCSLKETE SLTQRGVIYN LLGLALQGEG
860 870 880 890 900
RVNRAAKSYL RALNRAQEVG DVHNQAVAMA NLGHLSLKSW AQHPARNYLL
910 920 930 940 950
QAVRLYCELQ ASKETDMELV QVFLWLAQVL VSGHQLTHGL LCYEMALLFG
960 970 980 990 1000
LRHRHLKSQL QATKSLCHFY SSVSPNPEAC ITYHEHWLAL AQQLRDREME
1010 1020 1030 1040 1050
GRLLESLGQL YRNLNTARSL RRSLTCIKES LRIFIDLGET DKAAEAWLGA
1060 1070 1080 1090 1100
GRLHYLMQED ELVELCLQAA IQTALKSEEP LLALKLYEEA GDVFFNGTRH
1110 1120 1130 1140 1150
RHHAVEYYRA GAVPLARRLK AVRTELRIFN KLTELQISLE GYEKALEFAT
1160 1170 1180 1190 1200
LAARLSTVTG DQRQELVAFH RLATVYYSLH MYEMAEDCYL KTLSLCPPWL
1210 1220 1230 1240 1250
QSPKEALYYA KVYYRLGRLT FCQLKDAHDA TEYFLLALAA AVLLGDEELQ
1260 1270 1280
DTIRSRLDNI CQSPLWHSRP SGCSSERARW LSGGGLAL
Length:1,288
Mass (Da):144,777
Last modified:April 13, 2004 - v2
Checksum:i0E7C1B87480207B4
GO
Isoform 2 (identifier: Q8TF17-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1138: Missing.
     1139-1159: LEGYEKALEFATLAARLSTVT → MSEQMMQSVGCRISLSVFQFL

Note: No experimental confirmation available.

Show »
Length:150
Mass (Da):17,155
Checksum:i8A0BFC9B8FCCDC27
GO
Isoform 3 (identifier: Q8TF17-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:125
Mass (Da):14,597
Checksum:iBFE110205D4C92EA
GO
Isoform 4 (identifier: Q8TF17-4) [UniParc]FASTAAdd to Basket

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.

Show »
Length:596
Mass (Da):66,341
Checksum:iB50F2AA6E12879C5
GO
Isoform 5 (identifier: Q8TF17-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     128-134: Missing.

Note: No experimental confirmation available.

Show »
Length:1,281
Mass (Da):144,023
Checksum:i2A839EB226735B59
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti334 – 3341M → R in BAB85571. (PubMed:11853319)Curated
Sequence conflicti1158 – 11581V → I in BAB85571. (PubMed:11853319)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti169 – 1691Y → H in MNMN. 1 Publication
VAR_064421
Natural varianti171 – 1711G → E.
Corresponds to variant rs17722293 [ dbSNP | Ensembl ].
VAR_052622
Natural varianti468 – 4681A → S.2 Publications
Corresponds to variant rs6875902 [ dbSNP | Ensembl ].
VAR_018267
Natural varianti529 – 5291R → Q in CMT4C; homozygous in 2 unrelated Turkish patients; also found in 1 of 320 Turkish control chromosomes. 1 Publication
VAR_018268
Natural varianti657 – 6571E → K in CMT4C; homozygous in a Turkish patient. 1 Publication
VAR_018269
Natural varianti658 – 6581R → C in CMT4C; heterozygous in one German patient with affected sibling. 1 Publication
VAR_018270
Natural varianti696 – 6961H → R.
Corresponds to variant rs17109261 [ dbSNP | Ensembl ].
VAR_052623

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11381138Missing in isoform 2 and isoform 3. 2 PublicationsVSP_009884Add
BLAST
Alternative sequencei1 – 453453Missing in isoform 4. 1 PublicationVSP_009881Add
BLAST
Alternative sequencei128 – 1347Missing in isoform 5. 1 PublicationVSP_054499
Alternative sequencei959 – 104991QLQAT…EAWLG → KYVPCCWEAIERSVGSSFIH FLSQVISFMSLLCVQVSFRP PNPSAISTALCPQTLRHASP TMSTGWPWLSNSGTGRWKEG CWSPWGSFIGT in isoform 4. 1 PublicationVSP_009882Add
BLAST
Alternative sequencei1050 – 1288239Missing in isoform 4. 1 PublicationVSP_009883Add
BLAST
Alternative sequencei1139 – 115921LEGYE…LSTVT → MSEQMMQSVGCRISLSVFQF L in isoform 2 and isoform 3. 2 PublicationsVSP_009885Add
BLAST
Alternative sequencei1226 – 128863DAHDA…GGLAL → VRARLPRFPDSHHPTILLPD SKTMRSLCGGAEKTRVPR in isoform 3. 1 PublicationVSP_009886Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
AC011364 Genomic DNA. No translation available.
AC116312 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW61796.1.
BC113879 mRNA. Translation: AAI13880.1.
BC114486 mRNA. Translation: AAI14487.1.
AB075865 mRNA. Translation: BAB85571.1.
CCDSiCCDS4293.1. [Q8TF17-1]
RefSeqiNP_078853.2. NM_024577.3. [Q8TF17-1]
UniGeneiHs.483784.

Genome annotation databases

EnsembliENST00000502274; ENSP00000421092; ENSG00000169247. [Q8TF17-2]
ENST00000512049; ENSP00000421860; ENSG00000169247. [Q8TF17-5]
ENST00000515425; ENSP00000423660; ENSG00000169247. [Q8TF17-1]
GeneIDi79628.
KEGGihsa:79628.
UCSCiuc003lpt.3. human. [Q8TF17-1]
uc010jgx.3. human.

Polymorphism databases

DMDMi46396469.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
AC011364 Genomic DNA. No translation available.
AC116312 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW61796.1 .
BC113879 mRNA. Translation: AAI13880.1 .
BC114486 mRNA. Translation: AAI14487.1 .
AB075865 mRNA. Translation: BAB85571.1 .
CCDSi CCDS4293.1. [Q8TF17-1 ]
RefSeqi NP_078853.2. NM_024577.3. [Q8TF17-1 ]
UniGenei Hs.483784.

3D structure databases

ProteinModelPortali Q8TF17.
SMRi Q8TF17. Positions 272-328, 634-660, 1129-1195.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122758. 1 interaction.
STRINGi 9606.ENSP00000313025.

PTM databases

PhosphoSitei Q8TF17.

Polymorphism databases

DMDMi 46396469.

Proteomic databases

PaxDbi Q8TF17.
PRIDEi Q8TF17.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000502274 ; ENSP00000421092 ; ENSG00000169247 . [Q8TF17-2 ]
ENST00000512049 ; ENSP00000421860 ; ENSG00000169247 . [Q8TF17-5 ]
ENST00000515425 ; ENSP00000423660 ; ENSG00000169247 . [Q8TF17-1 ]
GeneIDi 79628.
KEGGi hsa:79628.
UCSCi uc003lpt.3. human. [Q8TF17-1 ]
uc010jgx.3. human.

Organism-specific databases

CTDi 79628.
GeneCardsi GC05M148303.
GeneReviewsi SH3TC2.
HGNCi HGNC:29427. SH3TC2.
HPAi HPA037684.
MIMi 601596. phenotype.
608206. gene.
613353. phenotype.
neXtProti NX_Q8TF17.
Orphaneti 99949. Charcot-Marie-Tooth disease type 4C.
PharmGKBi PA134951912.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0457.
GeneTreei ENSGT00530000063812.
HOVERGENi HBG054553.
InParanoidi Q8TF17.
OMAi EHLLFDH.
PhylomeDBi Q8TF17.
TreeFami TF333167.

Miscellaneous databases

ChiTaRSi SH3TC2. human.
GeneWikii SH3TC2.
GenomeRNAii 79628.
NextBioi 68717.
PROi Q8TF17.
SOURCEi Search...

Gene expression databases

Bgeei Q8TF17.
CleanExi HS_SH3TC2.
ExpressionAtlasi Q8TF17. baseline and differential.
Genevestigatori Q8TF17.

Family and domain databases

Gene3Di 1.25.40.10. 3 hits.
InterProi IPR001452. SH3_domain.
IPR011990. TPR-like_helical_dom.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view ]
Pfami PF14604. SH3_9. 1 hit.
PF00515. TPR_1. 1 hit.
[Graphical view ]
SMARTi SM00326. SH3. 1 hit.
SM00028. TPR. 3 hits.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 1 hit.
PROSITEi PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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.
    , 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. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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 5), VARIANT SER-468.
  7. "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.
  8. Cited for: VARIANT MNMN HIS-169.

Entry informationi

Entry nameiS3TC2_HUMAN
AccessioniPrimary (citable) accession number: Q8TF17
Secondary accession number(s): B3KWE5
, Q14CC0, Q14CF5, Q9H8I5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 13, 2004
Last modified: November 26, 2014
This is version 121 of the entry and version 2 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 5
    Human chromosome 5: 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

External Data

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