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Q96G28 (CC104_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 83. 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 104
Gene names
Name:CCDC104
ORF Names:UNQ163/PRO189
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length342 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May act as an effector for ARL3. Ref.5

Subunit structure

Interacts with ARL3. Ref.5

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 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96G28-1)

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.
Isoform 2 (identifier: Q96G28-2)

The sequence of this isoform differs from the canonical sequence as follows:
     39-39: V → VNCKGGHVITPGSPEPVILVACVPLV

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 342342Coiled-coil domain-containing protein 104
PRO_0000278638

Regions

Coiled coil150 – 18738 Potential

Natural variations

Alternative sequence391V → VNCKGGHVITPGSPEPVILV ACVPLV in isoform 2.
VSP_023338
Natural variant61E → D.
Corresponds to variant rs34891804 [ dbSNP | Ensembl ].
VAR_050725
Natural variant2431D → G. Ref.1 Ref.3
Corresponds to variant rs1045910 [ dbSNP | Ensembl ].
VAR_030795
Natural variant2461I → F. Ref.3
Corresponds to variant rs1045920 [ dbSNP | Ensembl ].
VAR_030796

Sequences

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

Last modified February 20, 2007. Version 2.
Checksum: C8ACF26FC57DFBD6

FASTA34239,447
        10         20         30         40         50         60 
MAAEEEDEVE WVVESIAGFL RGPDWSIPIL DFVEQKCEVF DDEEESKLTY TEIHQEYKEL 

        70         80         90        100        110        120 
VEKLLEGYLK EIGINEDQFQ EACTSPLAKT HTSQAILQPV LAAEDFTIFK AMMVQKNIEM 

       130        140        150        160        170        180 
QLQAIRIIQE RNGVLPDCLT DGSDVVSDLE HEEMKILREV LRKSKEEYDQ EEERKRKKQL 

       190        200        210        220        230        240 
SEAKTEEPTV HSSEAAIMNN SQGDGEHFAH PPSEVKMHFA NQSIEPLGRK VERSETSSLP 

       250        260        270        280        290        300 
QKDLKIPGLE HASIEGPIAN LSVLGTEELR QREHYLKQKR DKLMSMRKDM RTKQIQNMEQ 

       310        320        330        340 
KGKPTGEVEE MTEKPEMTAE EKQTLLKRRL LAEKLKEEVI NK 

« Hide

Isoform 2 [UniParc].

Checksum: 2E0F8C275213CE05
Show »

FASTA36741,929

References

« Hide 'large scale' references
[1]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLY-243.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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 1), VARIANTS GLY-243 AND PHE-246.
Tissue: B-cell.
[4]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[5]"An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium."
Wright K.J., Baye L.M., Olivier-Mason A., Mukhopadhyay S., Sang L., Kwong M., Wang W., Pretorius P.R., Sheffield V.C., Sengupta P., Slusarski D.C., Jackson P.K.
Genes Dev. 25:2347-2360(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ARL3, POSSIBLE FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY358097 mRNA. Translation: AAQ88464.1.
BC010011 mRNA. Translation: AAH10011.1.
AC019198 Genomic DNA. Translation: AAY14933.1.
AC015982 Genomic DNA. Translation: AAY24269.1.
CCDSCCDS1854.2. [Q96G28-1]
CCDS62911.1. [Q96G28-2]
RefSeqNP_001269690.1. NM_001282761.1. [Q96G28-2]
NP_542398.3. NM_080667.6. [Q96G28-1]
UniGeneHs.264208.

3D structure databases

ProteinModelPortalQ96G28.
SMRQ96G28. Positions 6-121.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125218. 4 interactions.
IntActQ96G28. 3 interactions.
STRING9606.ENSP00000295117.

PTM databases

PhosphoSiteQ96G28.

Polymorphism databases

DMDM126215682.

Proteomic databases

MaxQBQ96G28.
PaxDbQ96G28.
PRIDEQ96G28.

Protocols and materials databases

DNASU112942.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000339012; ENSP00000342699; ENSG00000163001. [Q96G28-2]
ENST00000349456; ENSP00000295117; ENSG00000163001. [Q96G28-1]
GeneID112942.
KEGGhsa:112942.
UCSCuc002ryx.2. human. [Q96G28-2]
uc002ryy.2. human. [Q96G28-1]

Organism-specific databases

CTD112942.
GeneCardsGC02P055746.
H-InvDBHIX0002064.
HGNCHGNC:30540. CCDC104.
HPAHPA008994.
HPA017061.
neXtProtNX_Q96G28.
PharmGKBPA145008608.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG321232.
HOGENOMHOG000007745.
HOVERGENHBG062543.
OMAMTEKPEM.
OrthoDBEOG7C8GJF.
PhylomeDBQ96G28.
TreeFamTF315143.

Gene expression databases

ArrayExpressQ96G28.
BgeeQ96G28.
CleanExHS_CCDC104.
GenevestigatorQ96G28.

Family and domain databases

Gene3D1.20.1520.10. 1 hit.
InterProIPR023379. ARF-like_2-bdp_dom.
[Graphical view]
PfamPF11527. ARL2_Bind_BART. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCCDC104. human.
GenomeRNAi112942.
NextBio78717.
PMAP-CutDBQ96G28.
PROQ96G28.

Entry information

Entry nameCC104_HUMAN
AccessionPrimary (citable) accession number: Q96G28
Secondary accession number(s): Q53SF0, Q53ST9, Q6UY34
Entry history
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: July 9, 2014
This is version 83 of the entry and version 2 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 2

Human chromosome 2: entries, gene names and cross-references to MIM