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Q6TFL3

- CC171_HUMAN

UniProt

Q6TFL3 - CC171_HUMAN

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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

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

BgeeiQ6TFL3.
CleanExiHS_C9orf93.
ExpressionAtlasiQ6TFL3. baseline and differential.
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.
GeneTreeiENSGT00390000007924.
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

        10         20         30         40         50
MNLNTSSNTG DTQRLKIASL DVKQILKNET ELDITDNLRK KLHWAKKEKL
60 70 80 90 100
EITTKHNAEL ASYESQIAKL RSEVEKGEAL RQSLEYDLAV ARKEAGLGRR
110 120 130 140 150
AAEERLAEAH RIQEKLCAQN SELQAKTNET EKAFQTSQQK WKEECRRFEH
160 170 180 190 200
DLEERDNMIQ NCNREYDLLM KEKSRLEKTL QEALEKHQRE KNEMESHIRE
210 220 230 240 250
TALEEFRLQE EQWEAERREL QFIVQEQDTA VQNMHKKVEK LETEHMDCSD
260 270 280 290 300
LLRRQTSELE FSTQREERLR KEFEATTLRV RKLEENIEAE RAAHLESKFN
310 320 330 340 350
SEIIQLRIRD LEGALQVEKA SQAEAVADLE IIKNEFKEVE SAYEREKHNA
360 370 380 390 400
QESFAKLNLL EKEYFSKNKK LNEDIEEQKK VIIDLSKRLQ YNEKSCSELQ
410 420 430 440 450
EELVMAKKHQ AFLVETCENN VKELESILDS FTVSGQWTSG IHKDKDKPPS
460 470 480 490 500
FSVVLERLRR TLTDYQNKLE DASNEEKACN ELDSTKQKID SHTKNIKELQ
510 520 530 540 550
DKLADVNKEL SHLHTKCADR EALISTLKVE LQNVLHCWEK EKAQAAQSES
560 570 580 590 600
ELQKLSQAFH KDAEEKLTFL HTLYQHLVAG CVLIKQPEGM LDKFSWSELC
610 620 630 640 650
AVLQENVDAL IADLNRANEK IRHLEYICKN KSDTMRELQQ TQEDTFTKVA
660 670 680 690 700
EQIKAQESCW HRQKKELELQ YSELFLEVQK RAQKFQEIAE KNMEKLNHIE
710 720 730 740 750
KSHEQLVLEN SHFKKLLSQT QREQMSLLAA CALMAGALYP LYSRSCALST
760 770 780 790 800
QRDFLQEQVN TFELFKLEIR TLAQALSTVE EKKQEEAKMK KKTFKGLIRI
810 820 830 840 850
FRKGVIAVLA ANRLKILGQS CASLFTWMES FKEGIGMLVC TGEPQDKHKF
860 870 880 890 900
PKHQKEQLRC LQALSWLTSS DLLAAIISSM AELQDVIGKA DPNSRICGHL
910 920 930 940 950
LIGAAKNSFA KLMDKISLVM ECIPLHSSRS ITYVEKDSLV QRLAHGLHKV
960 970 980 990 1000
NTLALKYGLR GHVPITKSTA SLQKQILGFT QRLHAAEVER RSLRLEVTEF
1010 1020 1030 1040 1050
KRSVNEMKKE LDKAQGLQMQ LNEFKQSKLI THEKFESACE ELNNALLREE
1060 1070 1080 1090 1100
QAQMLLNEQA QQLQELNYKL ELHSSEEADK NQTLGEAVKS LSEAKMELRR
1110 1120 1130 1140 1150
KDQSLRQLNR HLTQLEQDKR RLEENIHDAE SALRMAAKDK ECVANHMRAV
1160 1170 1180 1190 1200
ENTLHKVRDQ ISLSWSAASR NDFTLQLPKL HLETFAMEGL KGGPEVVACQ
1210 1220 1230 1240 1250
AMIKSFMDVY QLASTRIMTL EKEMTSHRSH IAALKSELHT ACLRENASLQ
1260 1270 1280 1290 1300
SIGSRDHSNL SIPSRAPLPA DTTGIGDFLP LKAELDTTYT FLKETFINTV
1310 1320
PHALTSSHSS PVTMSANANR PTQIGL

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

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00390000007924.
HOGENOMi HOG000111652.
HOVERGENi HBG081167.
InParanoidi Q6TFL3.
OMAi AKKHQAF.
OrthoDBi EOG7SJD3R.
PhylomeDBi Q6TFL3.
TreeFami TF330625.

Miscellaneous databases

ChiTaRSi CCDC171. human.
GenomeRNAii 203238.
NextBioi 90382.
PROi Q6TFL3.

Gene expression databases

Bgeei Q6TFL3.
CleanExi HS_C9orf93.
ExpressionAtlasi Q6TFL3. baseline and differential.
Genevestigatori Q6TFL3.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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: November 26, 2014
This is version 82 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