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Q6TFL3

- CC171_HUMAN

UniProt

Q6TFL3 - CC171_HUMAN

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Protein

Coiled-coil domain-containing protein 171

Gene
CCDC171, C9orf93
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

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.

Family & Domainsi

Coiled coil

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

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. VSP_043768
Alternative sequencei1201 – 122929AMIKS…TSHRS → VRVQWCDHSSLQSQMPGLKQ SSCLSLLST in isoform 2. VSP_014445Add
BLAST
Alternative sequencei1230 – 132697Missing in isoform 2. VSP_014446Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti417 – 4171C → R in AAI50601. 1 Publication
Sequence conflicti417 – 4171C → R in AAI44215. 1 Publication
Sequence conflicti475 – 4751E → K in BAC87511. 1 Publication
Sequence conflicti823 – 8231S → T in BAC04823. 1 Publication

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

EnsembliENST00000297641; ENSP00000297641; ENSG00000164989. [Q6TFL3-3]
ENST00000380701; 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 ENST00000297641 ; ENSP00000297641 ; ENSG00000164989 . [Q6TFL3-3 ]
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

« 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: July 9, 2014
This is version 79 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

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