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Q6TFL3

- CC171_HUMAN

UniProt

Q6TFL3 - CC171_HUMAN

Protein

Coiled-coil domain-containing protein 171

Gene

CCDC171

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 80 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 171
    Gene namesi
    Name:CCDC171
    Synonyms:C9orf93
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:29828. CCDC171.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134921892.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13261326Coiled-coil domain-containing protein 171PRO_0000089727Add
    BLAST

    Proteomic databases

    PaxDbiQ6TFL3.
    PRIDEiQ6TFL3.

    PTM databases

    PhosphoSiteiQ6TFL3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6TFL3.
    BgeeiQ6TFL3.
    CleanExiHS_C9orf93.
    GenevestigatoriQ6TFL3.

    Organism-specific databases

    HPAiHPA019803.
    HPA019806.
    HPA024133.

    Interactioni

    Protein-protein interaction databases

    BioGridi128459. 1 interaction.
    STRINGi9606.ENSP00000370077.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6TFL3.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili53 – 294242Sequence AnalysisAdd
    BLAST
    Coiled coili323 – 39169Sequence AnalysisAdd
    BLAST
    Coiled coili450 – 561112Sequence AnalysisAdd
    BLAST
    Coiled coili597 – 63034Sequence AnalysisAdd
    BLAST
    Coiled coili660 – 70748Sequence AnalysisAdd
    BLAST
    Coiled coili765 – 79228Sequence AnalysisAdd
    BLAST
    Coiled coili979 – 1143165Sequence AnalysisAdd
    BLAST
    Coiled coili1217 – 124125Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi103 – 377275Glu-richAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG139989.
    HOGENOMiHOG000111652.
    HOVERGENiHBG081167.
    InParanoidiQ6TFL3.
    OMAiAKKHQAF.
    OrthoDBiEOG7SJD3R.
    PhylomeDBiQ6TFL3.
    TreeFamiTF330625.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6TFL3-1) [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

    MNLNTSSNTG DTQRLKIASL DVKQILKNET ELDITDNLRK KLHWAKKEKL     50
    EITTKHNAEL ASYESQIAKL RSEVEKGEAL RQSLEYDLAV ARKEAGLGRR 100
    AAEERLAEAH RIQEKLCAQN SELQAKTNET EKAFQTSQQK WKEECRRFEH 150
    DLEERDNMIQ NCNREYDLLM KEKSRLEKTL QEALEKHQRE KNEMESHIRE 200
    TALEEFRLQE EQWEAERREL QFIVQEQDTA VQNMHKKVEK LETEHMDCSD 250
    LLRRQTSELE FSTQREERLR KEFEATTLRV RKLEENIEAE RAAHLESKFN 300
    SEIIQLRIRD LEGALQVEKA SQAEAVADLE IIKNEFKEVE SAYEREKHNA 350
    QESFAKLNLL EKEYFSKNKK LNEDIEEQKK VIIDLSKRLQ YNEKSCSELQ 400
    EELVMAKKHQ AFLVETCENN VKELESILDS FTVSGQWTSG IHKDKDKPPS 450
    FSVVLERLRR TLTDYQNKLE DASNEEKACN ELDSTKQKID SHTKNIKELQ 500
    DKLADVNKEL SHLHTKCADR EALISTLKVE LQNVLHCWEK EKAQAAQSES 550
    ELQKLSQAFH KDAEEKLTFL HTLYQHLVAG CVLIKQPEGM LDKFSWSELC 600
    AVLQENVDAL IADLNRANEK IRHLEYICKN KSDTMRELQQ TQEDTFTKVA 650
    EQIKAQESCW HRQKKELELQ YSELFLEVQK RAQKFQEIAE KNMEKLNHIE 700
    KSHEQLVLEN SHFKKLLSQT QREQMSLLAA CALMAGALYP LYSRSCALST 750
    QRDFLQEQVN TFELFKLEIR TLAQALSTVE EKKQEEAKMK KKTFKGLIRI 800
    FRKGVIAVLA ANRLKILGQS CASLFTWMES FKEGIGMLVC TGEPQDKHKF 850
    PKHQKEQLRC LQALSWLTSS DLLAAIISSM AELQDVIGKA DPNSRICGHL 900
    LIGAAKNSFA KLMDKISLVM ECIPLHSSRS ITYVEKDSLV QRLAHGLHKV 950
    NTLALKYGLR GHVPITKSTA SLQKQILGFT QRLHAAEVER RSLRLEVTEF 1000
    KRSVNEMKKE LDKAQGLQMQ LNEFKQSKLI THEKFESACE ELNNALLREE 1050
    QAQMLLNEQA QQLQELNYKL ELHSSEEADK NQTLGEAVKS LSEAKMELRR 1100
    KDQSLRQLNR HLTQLEQDKR RLEENIHDAE SALRMAAKDK ECVANHMRAV 1150
    ENTLHKVRDQ ISLSWSAASR NDFTLQLPKL HLETFAMEGL KGGPEVVACQ 1200
    AMIKSFMDVY QLASTRIMTL EKEMTSHRSH IAALKSELHT ACLRENASLQ 1250
    SIGSRDHSNL SIPSRAPLPA DTTGIGDFLP LKAELDTTYT FLKETFINTV 1300
    PHALTSSHSS PVTMSANANR PTQIGL 1326

    Note: No experimental confirmation available.

    Length:1,326
    Mass (Da):152,810
    Last modified:July 5, 2004 - v1
    Checksum:i27116BFFDBBD46F8
    GO
    Isoform 2 (identifier: Q6TFL3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1201-1229: AMIKSFMDVYQLASTRIMTLEKEMTSHRS → VRVQWCDHSSLQSQMPGLKQSSCLSLLST
         1230-1326: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,229
    Mass (Da):142,275
    Checksum:iAD195926BF60DF90
    GO
    Isoform 3 (identifier: Q6TFL3-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         475-475: E → ELNSMNDVK

    Show »
    Length:1,334
    Mass (Da):153,712
    Checksum:i5E7DFFE323A0356D
    GO

    Sequence cautioni

    The sequence BAC04370.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAC04823.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAC87511.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti417 – 4171C → R in AAI50601. (PubMed:15489334)Curated
    Sequence conflicti417 – 4171C → R in AAI44215. (PubMed:15489334)Curated
    Sequence conflicti475 – 4751E → K in BAC87511. (PubMed:14702039)Curated
    Sequence conflicti823 – 8231S → T in BAC04823. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171I → N.1 Publication
    Corresponds to variant rs443563 [ dbSNP | Ensembl ].
    VAR_022803
    Natural varianti121 – 1211S → T.
    Corresponds to variant rs4741510 [ dbSNP | Ensembl ].
    VAR_022804
    Natural varianti495 – 4951N → I.
    Corresponds to variant rs10962127 [ dbSNP | Ensembl ].
    VAR_033685
    Natural varianti821 – 8211C → Y.
    Corresponds to variant rs34816651 [ dbSNP | Ensembl ].
    VAR_050841
    Natural varianti1069 – 10691K → R.2 Publications
    Corresponds to variant rs1539172 [ dbSNP | Ensembl ].
    VAR_022805

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei475 – 4751E → ELNSMNDVK in isoform 3. 1 PublicationVSP_043768
    Alternative sequencei1201 – 122929AMIKS…TSHRS → VRVQWCDHSSLQSQMPGLKQ SSCLSLLST in isoform 2. 2 PublicationsVSP_014445Add
    BLAST
    Alternative sequencei1230 – 132697Missing in isoform 2. 2 PublicationsVSP_014446Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY422473 mRNA. Translation: AAR13704.1.
    AL359877
    , AL513423, AL592153, AL662788 Genomic DNA. Translation: CAI94977.1.
    AL592153
    , AL359877, AL513423, AL662788 Genomic DNA. Translation: CAI95316.1.
    AL662788
    , AL359877, AL513423, AL592153 Genomic DNA. Translation: CAI95333.1.
    AK094506 mRNA. Translation: BAC04370.1. Different initiation.
    AK096586 mRNA. Translation: BAC04823.1. Different initiation.
    AK128581 mRNA. Translation: BAC87511.1. Different initiation.
    BC026063 mRNA. Translation: AAH26063.2.
    BC064849 mRNA. Translation: AAH64849.1.
    BC144214 mRNA. Translation: AAI44215.1.
    BC150600 mRNA. Translation: AAI50601.1.
    CCDSiCCDS6481.1. [Q6TFL3-1]
    RefSeqiNP_775821.2. NM_173550.2. [Q6TFL3-1]
    XP_005251454.1. XM_005251397.1. [Q6TFL3-4]
    XP_005251455.1. XM_005251398.1. [Q6TFL3-4]
    XP_005251456.1. XM_005251399.2. [Q6TFL3-4]
    UniGeneiHs.17267.

    Genome annotation databases

    EnsembliENST00000380701; ENSP00000370077; ENSG00000164989. [Q6TFL3-1]
    GeneIDi203238.
    KEGGihsa:203238.
    UCSCiuc003zmd.3. human. [Q6TFL3-1]
    uc003zme.3. human. [Q6TFL3-4]

    Polymorphism databases

    DMDMi71658803.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY422473 mRNA. Translation: AAR13704.1 .
    AL359877
    , AL513423 , AL592153 , AL662788 Genomic DNA. Translation: CAI94977.1 .
    AL592153
    , AL359877 , AL513423 , AL662788 Genomic DNA. Translation: CAI95316.1 .
    AL662788
    , AL359877 , AL513423 , AL592153 Genomic DNA. Translation: CAI95333.1 .
    AK094506 mRNA. Translation: BAC04370.1 . Different initiation.
    AK096586 mRNA. Translation: BAC04823.1 . Different initiation.
    AK128581 mRNA. Translation: BAC87511.1 . Different initiation.
    BC026063 mRNA. Translation: AAH26063.2 .
    BC064849 mRNA. Translation: AAH64849.1 .
    BC144214 mRNA. Translation: AAI44215.1 .
    BC150600 mRNA. Translation: AAI50601.1 .
    CCDSi CCDS6481.1. [Q6TFL3-1 ]
    RefSeqi NP_775821.2. NM_173550.2. [Q6TFL3-1 ]
    XP_005251454.1. XM_005251397.1. [Q6TFL3-4 ]
    XP_005251455.1. XM_005251398.1. [Q6TFL3-4 ]
    XP_005251456.1. XM_005251399.2. [Q6TFL3-4 ]
    UniGenei Hs.17267.

    3D structure databases

    ProteinModelPortali Q6TFL3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128459. 1 interaction.
    STRINGi 9606.ENSP00000370077.

    PTM databases

    PhosphoSitei Q6TFL3.

    Polymorphism databases

    DMDMi 71658803.

    Proteomic databases

    PaxDbi Q6TFL3.
    PRIDEi Q6TFL3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000380701 ; ENSP00000370077 ; ENSG00000164989 . [Q6TFL3-1 ]
    GeneIDi 203238.
    KEGGi hsa:203238.
    UCSCi uc003zmd.3. human. [Q6TFL3-1 ]
    uc003zme.3. human. [Q6TFL3-4 ]

    Organism-specific databases

    CTDi 203238.
    GeneCardsi GC09P015554.
    HGNCi HGNC:29828. CCDC171.
    HPAi HPA019803.
    HPA019806.
    HPA024133.
    neXtProti NX_Q6TFL3.
    PharmGKBi PA134921892.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG139989.
    HOGENOMi HOG000111652.
    HOVERGENi HBG081167.
    InParanoidi Q6TFL3.
    OMAi AKKHQAF.
    OrthoDBi EOG7SJD3R.
    PhylomeDBi Q6TFL3.
    TreeFami TF330625.

    Miscellaneous databases

    GenomeRNAii 203238.
    NextBioi 90382.
    PROi Q6TFL3.

    Gene expression databases

    ArrayExpressi Q6TFL3.
    Bgeei Q6TFL3.
    CleanExi HS_C9orf93.
    Genevestigatori Q6TFL3.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. Huang C.Q., Wu S.L., Liu S.
      Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] OF 475-1326 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 752-1326 (ISOFORM 2), VARIANT ARG-1069.
      Tissue: Brain cortex, Fetal brain and Trachea.
    4. "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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 494-1326 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 805-1203 (ISOFORM 2), VARIANTS ASN-17 AND ARG-1069.
      Tissue: Lung and Testis.

    Entry informationi

    Entry nameiCC171_HUMAN
    AccessioniPrimary (citable) accession number: Q6TFL3
    Secondary accession number(s): B7ZM22
    , Q5SU58, Q6P1W1, Q6ZR13, Q8N1Z4, Q8N8L3, Q8TBR2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 2, 2005
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 80 of the entry and version 1 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 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

    External Data

    Dasty 3