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Q8TF17

- S3TC2_HUMAN

UniProt

Q8TF17 - S3TC2_HUMAN

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
    • BLAST
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 2 (13 Apr 2004)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiQ8TF17.
    BgeeiQ8TF17.
    CleanExiHS_SH3TC2.
    GenevestigatoriQ8TF17.

    Organism-specific databases

    HPAiHPA037684.

    Interactioni

    Protein-protein interaction databases

    BioGridi122758. 1 interaction.
    STRINGi9606.ENSP00000313025.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TF17.
    SMRiQ8TF17. Positions 272-328, 492-517, 634-660.
    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.
    HOVERGENiHBG054553.
    InParanoidiQ8TF17.
    OMAiEHLLFDH.
    PhylomeDBiQ8TF17.
    TreeFamiTF333167.

    Family and domain databases

    Gene3Di1.25.40.10. 3 hits.
    InterProiIPR001452. SH3_domain.
    IPR011990. TPR-like_helical.
    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

    MGGCFCIPRE RSLTRGPGKE TPSKDPTVSS ECIASSEYKE KCFLPQNINP     50
    DLTLSFCVKS RSRRCVNGPL QEAARRRLWA LENEDQEVRM LFKDLSARLV 100
    SIQSQRAQFL ITFKTMEEIW KFSTYLNLGY VSMCLEHLLF DHKYWLNCIL 150
    VEDTEIQVSV DDKHLETIYL GLLIQEGHFF CRALCSVTPP AEKEGECLTL 200
    CKNELISVKM AEAGSELEGV SLVTGQRGLV LVSALEPLPL PFHQWFLKNY 250
    PGSCGLSRKR DWTGSYQIGR GRCKALTGYE PGEKDELNFY QGESIEIIGF 300
    VIPGLQWFIG KSTSSGQVGF VPTRNIDPDS YSPMSRNSAF LSDEERCSLL 350
    ALGSDKQTEC SSFLHTLART DITSVYRLSG FESIQNPPND LSASQPEGFK 400
    EVRPGRAWEE HQAVGSRQSS SSEDSSLEEE LLSATSDSYR LPEPDDLDDP 450
    ELLMDLSTGQ EEEAENFAPI LAFLDHEGYA DHFKSLYDFS FSFLTSSFYS 500
    FSEEDEFVAY LEASRKWAKK SHMTWAHARL CFLLGRLSIR KVKLSQARVY 550
    FEEAIHILNG AFEDLSLVAT LYINLAAIYL KQRLRHKGSA LLEKAGALLA 600
    CLPDRESSAK HELDVVAYVL RQGIVVGSSP LEARACFLAI RLLLSLGRHE 650
    EVLPFAERLQ LLSGHPPASE AVASVLSFLY DKKYLPHLAV ASVQQHGIQS 700
    AQGMSLPIWQ VHLVLQNTTK LLGFPSPGWG EVSALACPML RQALAACEEL 750
    ADRSTQRALC LILSKVYLEH RSPDGAIHYL SQALVLGQLL GEQESFESSL 800
    CLAWAYLLAS QAKKALDVLE PLLCSLKETE SLTQRGVIYN LLGLALQGEG 850
    RVNRAAKSYL RALNRAQEVG DVHNQAVAMA NLGHLSLKSW AQHPARNYLL 900
    QAVRLYCELQ ASKETDMELV QVFLWLAQVL VSGHQLTHGL LCYEMALLFG 950
    LRHRHLKSQL QATKSLCHFY SSVSPNPEAC ITYHEHWLAL AQQLRDREME 1000
    GRLLESLGQL YRNLNTARSL RRSLTCIKES LRIFIDLGET DKAAEAWLGA 1050
    GRLHYLMQED ELVELCLQAA IQTALKSEEP LLALKLYEEA GDVFFNGTRH 1100
    RHHAVEYYRA GAVPLARRLK AVRTELRIFN KLTELQISLE GYEKALEFAT 1150
    LAARLSTVTG DQRQELVAFH RLATVYYSLH MYEMAEDCYL KTLSLCPPWL 1200
    QSPKEALYYA KVYYRLGRLT FCQLKDAHDA TEYFLLALAA AVLLGDEELQ 1250
    DTIRSRLDNI CQSPLWHSRP SGCSSERARW LSGGGLAL 1288
    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:
    EMBL
    GenBank
    DDBJ
    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]

    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:
    EMBL
    GenBank
    DDBJ
    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, 492-517, 634-660.
    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 ]

    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.
    HOVERGENi HBG054553.
    InParanoidi Q8TF17.
    OMAi EHLLFDH.
    PhylomeDBi Q8TF17.
    TreeFami TF333167.

    Miscellaneous databases

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

    Gene expression databases

    ArrayExpressi Q8TF17.
    Bgeei Q8TF17.
    CleanExi HS_SH3TC2.
    Genevestigatori Q8TF17.

    Family and domain databases

    Gene3Di 1.25.40.10. 3 hits.
    InterProi IPR001452. SH3_domain.
    IPR011990. TPR-like_helical.
    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

    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: October 1, 2014
    This is version 119 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

    Dasty 3