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Q6TFL3 (CC171_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 79. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil domain-containing protein 171
Gene names
Name:CCDC171
Synonyms:C9orf93
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1326 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence caution

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.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6TFL3-1)

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.
Note: No experimental confirmation available.
Isoform 2 (identifier: Q6TFL3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1201-1229: AMIKSFMDVYQLASTRIMTLEKEMTSHRS → VRVQWCDHSSLQSQMPGLKQSSCLSLLST
     1230-1326: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q6TFL3-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13261326Coiled-coil domain-containing protein 171
PRO_0000089727

Regions

Coiled coil53 – 294242 Potential
Coiled coil323 – 39169 Potential
Coiled coil450 – 561112 Potential
Coiled coil597 – 63034 Potential
Coiled coil660 – 70748 Potential
Coiled coil765 – 79228 Potential
Coiled coil979 – 1143165 Potential
Coiled coil1217 – 124125 Potential
Compositional bias103 – 377275Glu-rich

Natural variations

Alternative sequence4751E → ELNSMNDVK in isoform 3.
VSP_043768
Alternative sequence1201 – 122929AMIKS…TSHRS → VRVQWCDHSSLQSQMPGLKQ SSCLSLLST in isoform 2.
VSP_014445
Alternative sequence1230 – 132697Missing in isoform 2.
VSP_014446
Natural variant171I → N. Ref.4
Corresponds to variant rs443563 [ dbSNP | Ensembl ].
VAR_022803
Natural variant1211S → T.
Corresponds to variant rs4741510 [ dbSNP | Ensembl ].
VAR_022804
Natural variant4951N → I.
Corresponds to variant rs10962127 [ dbSNP | Ensembl ].
VAR_033685
Natural variant8211C → Y.
Corresponds to variant rs34816651 [ dbSNP | Ensembl ].
VAR_050841
Natural variant10691K → R. Ref.3 Ref.4
Corresponds to variant rs1539172 [ dbSNP | Ensembl ].
VAR_022805

Experimental info

Sequence conflict4171C → R in AAI50601. Ref.4
Sequence conflict4171C → R in AAI44215. Ref.4
Sequence conflict4751E → K in BAC87511. Ref.3
Sequence conflict8231S → T in BAC04823. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 27116BFFDBBD46F8

FASTA1,326152,810
        10         20         30         40         50         60 
MNLNTSSNTG DTQRLKIASL DVKQILKNET ELDITDNLRK KLHWAKKEKL EITTKHNAEL 

        70         80         90        100        110        120 
ASYESQIAKL RSEVEKGEAL RQSLEYDLAV ARKEAGLGRR AAEERLAEAH RIQEKLCAQN 

       130        140        150        160        170        180 
SELQAKTNET EKAFQTSQQK WKEECRRFEH DLEERDNMIQ NCNREYDLLM KEKSRLEKTL 

       190        200        210        220        230        240 
QEALEKHQRE KNEMESHIRE TALEEFRLQE EQWEAERREL QFIVQEQDTA VQNMHKKVEK 

       250        260        270        280        290        300 
LETEHMDCSD LLRRQTSELE FSTQREERLR KEFEATTLRV RKLEENIEAE RAAHLESKFN 

       310        320        330        340        350        360 
SEIIQLRIRD LEGALQVEKA SQAEAVADLE IIKNEFKEVE SAYEREKHNA QESFAKLNLL 

       370        380        390        400        410        420 
EKEYFSKNKK LNEDIEEQKK VIIDLSKRLQ YNEKSCSELQ EELVMAKKHQ AFLVETCENN 

       430        440        450        460        470        480 
VKELESILDS FTVSGQWTSG IHKDKDKPPS FSVVLERLRR TLTDYQNKLE DASNEEKACN 

       490        500        510        520        530        540 
ELDSTKQKID SHTKNIKELQ DKLADVNKEL SHLHTKCADR EALISTLKVE LQNVLHCWEK 

       550        560        570        580        590        600 
EKAQAAQSES ELQKLSQAFH KDAEEKLTFL HTLYQHLVAG CVLIKQPEGM LDKFSWSELC 

       610        620        630        640        650        660 
AVLQENVDAL IADLNRANEK IRHLEYICKN KSDTMRELQQ TQEDTFTKVA EQIKAQESCW 

       670        680        690        700        710        720 
HRQKKELELQ YSELFLEVQK RAQKFQEIAE KNMEKLNHIE KSHEQLVLEN SHFKKLLSQT 

       730        740        750        760        770        780 
QREQMSLLAA CALMAGALYP LYSRSCALST QRDFLQEQVN TFELFKLEIR TLAQALSTVE 

       790        800        810        820        830        840 
EKKQEEAKMK KKTFKGLIRI FRKGVIAVLA ANRLKILGQS CASLFTWMES FKEGIGMLVC 

       850        860        870        880        890        900 
TGEPQDKHKF PKHQKEQLRC LQALSWLTSS DLLAAIISSM AELQDVIGKA DPNSRICGHL 

       910        920        930        940        950        960 
LIGAAKNSFA KLMDKISLVM ECIPLHSSRS ITYVEKDSLV QRLAHGLHKV NTLALKYGLR 

       970        980        990       1000       1010       1020 
GHVPITKSTA SLQKQILGFT QRLHAAEVER RSLRLEVTEF KRSVNEMKKE LDKAQGLQMQ 

      1030       1040       1050       1060       1070       1080 
LNEFKQSKLI THEKFESACE ELNNALLREE QAQMLLNEQA QQLQELNYKL ELHSSEEADK 

      1090       1100       1110       1120       1130       1140 
NQTLGEAVKS LSEAKMELRR KDQSLRQLNR HLTQLEQDKR RLEENIHDAE SALRMAAKDK 

      1150       1160       1170       1180       1190       1200 
ECVANHMRAV ENTLHKVRDQ ISLSWSAASR NDFTLQLPKL HLETFAMEGL KGGPEVVACQ 

      1210       1220       1230       1240       1250       1260 
AMIKSFMDVY QLASTRIMTL EKEMTSHRSH IAALKSELHT ACLRENASLQ SIGSRDHSNL 

      1270       1280       1290       1300       1310       1320 
SIPSRAPLPA DTTGIGDFLP LKAELDTTYT FLKETFINTV PHALTSSHSS PVTMSANANR 


PTQIGL 

« Hide

Isoform 2 [UniParc].

Checksum: AD195926BF60DF90
Show »

FASTA1,229142,275
Isoform 3 [UniParc].

Checksum: 5E7DFFE323A0356D
Show »

FASTA1,334153,712

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY422473 mRNA. Translation: AAR13704.1.
AL359877 expand/collapse EMBL AC list , AL513423, AL592153, AL662788 Genomic DNA. Translation: CAI94977.1.
AL592153 expand/collapse EMBL AC list , AL359877, AL513423, AL662788 Genomic DNA. Translation: CAI95316.1.
AL662788 expand/collapse EMBL AC list , 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.
CCDSCCDS6481.1. [Q6TFL3-1]
RefSeqNP_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]
UniGeneHs.17267.

3D structure databases

ProteinModelPortalQ6TFL3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128459. 1 interaction.
STRING9606.ENSP00000370077.

PTM databases

PhosphoSiteQ6TFL3.

Polymorphism databases

DMDM71658803.

Proteomic databases

PaxDbQ6TFL3.
PRIDEQ6TFL3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297641; ENSP00000297641; ENSG00000164989. [Q6TFL3-3]
ENST00000380701; ENSP00000370077; ENSG00000164989. [Q6TFL3-1]
GeneID203238.
KEGGhsa:203238.
UCSCuc003zmd.3. human. [Q6TFL3-1]
uc003zme.3. human. [Q6TFL3-4]

Organism-specific databases

CTD203238.
GeneCardsGC09P015554.
HGNCHGNC:29828. CCDC171.
HPAHPA019803.
HPA019806.
HPA024133.
neXtProtNX_Q6TFL3.
PharmGKBPA134921892.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG139989.
HOGENOMHOG000111652.
HOVERGENHBG081167.
InParanoidQ6TFL3.
OMAAKKHQAF.
OrthoDBEOG7SJD3R.
PhylomeDBQ6TFL3.
TreeFamTF330625.

Gene expression databases

ArrayExpressQ6TFL3.
BgeeQ6TFL3.
CleanExHS_C9orf93.
GenevestigatorQ6TFL3.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi203238.
NextBio90382.
PROQ6TFL3.

Entry information

Entry nameCC171_HUMAN
AccessionPrimary (citable) accession number: Q6TFL3
Secondary accession number(s): B7ZM22 expand/collapse secondary AC list , Q5SU58, Q6P1W1, Q6ZR13, Q8N1Z4, Q8N8L3, Q8TBR2
Entry history
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 statusReviewed (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.

Relevant documents

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM