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Q96G28

- CC104_HUMAN

UniProt

Q96G28 - CC104_HUMAN

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Protein

Coiled-coil domain-containing protein 104

Gene

CCDC104

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

May act as an effector for ARL3.

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 104
Gene namesi
Name:CCDC104
ORF Names:UNQ163/PRO189
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:30540. CCDC104.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145008608.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 342342Coiled-coil domain-containing protein 104PRO_0000278638Add
BLAST

Proteomic databases

MaxQBiQ96G28.
PaxDbiQ96G28.
PRIDEiQ96G28.

PTM databases

PhosphoSiteiQ96G28.

Miscellaneous databases

PMAP-CutDBQ96G28.

Expressioni

Gene expression databases

BgeeiQ96G28.
CleanExiHS_CCDC104.
ExpressionAtlasiQ96G28. baseline and differential.
GenevestigatoriQ96G28.

Organism-specific databases

HPAiHPA008994.
HPA017061.

Interactioni

Subunit structurei

Interacts with ARL3.1 Publication

Protein-protein interaction databases

BioGridi125218. 4 interactions.
IntActiQ96G28. 3 interactions.
STRINGi9606.ENSP00000295117.

Structurei

3D structure databases

ProteinModelPortaliQ96G28.
SMRiQ96G28. Positions 6-121.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili150 – 18738Sequence AnalysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG321232.
GeneTreeiENSGT00390000012785.
HOGENOMiHOG000007745.
HOVERGENiHBG062543.
InParanoidiQ96G28.
OMAiMTEKPEM.
OrthoDBiEOG7C8GJF.
PhylomeDBiQ96G28.
TreeFamiTF315143.

Family and domain databases

Gene3Di1.20.1520.10. 1 hit.
InterProiIPR023379. ARF-like_2-bdp_dom.
[Graphical view]
PfamiPF11527. ARL2_Bind_BART. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96G28-1) [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
MAAEEEDEVE WVVESIAGFL RGPDWSIPIL DFVEQKCEVF DDEEESKLTY
60 70 80 90 100
TEIHQEYKEL VEKLLEGYLK EIGINEDQFQ EACTSPLAKT HTSQAILQPV
110 120 130 140 150
LAAEDFTIFK AMMVQKNIEM QLQAIRIIQE RNGVLPDCLT DGSDVVSDLE
160 170 180 190 200
HEEMKILREV LRKSKEEYDQ EEERKRKKQL SEAKTEEPTV HSSEAAIMNN
210 220 230 240 250
SQGDGEHFAH PPSEVKMHFA NQSIEPLGRK VERSETSSLP QKDLKIPGLE
260 270 280 290 300
HASIEGPIAN LSVLGTEELR QREHYLKQKR DKLMSMRKDM RTKQIQNMEQ
310 320 330 340
KGKPTGEVEE MTEKPEMTAE EKQTLLKRRL LAEKLKEEVI NK
Length:342
Mass (Da):39,447
Last modified:February 20, 2007 - v2
Checksum:iC8ACF26FC57DFBD6
GO
Isoform 2 (identifier: Q96G28-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:367
Mass (Da):41,929
Checksum:i2E0F8C275213CE05
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61E → D.
Corresponds to variant rs34891804 [ dbSNP | Ensembl ].
VAR_050725
Natural varianti243 – 2431D → G.2 Publications
Corresponds to variant rs1045910 [ dbSNP | Ensembl ].
VAR_030795
Natural varianti246 – 2461I → F.1 Publication
Corresponds to variant rs1045920 [ dbSNP | Ensembl ].
VAR_030796

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei39 – 391V → VNCKGGHVITPGSPEPVILV ACVPLV in isoform 2. 1 PublicationVSP_023338

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY358097 mRNA. Translation: AAQ88464.1.
BC010011 mRNA. Translation: AAH10011.1.
AC019198 Genomic DNA. Translation: AAY14933.1.
AC015982 Genomic DNA. Translation: AAY24269.1.
CCDSiCCDS1854.2. [Q96G28-1]
CCDS62911.1. [Q96G28-2]
RefSeqiNP_001269690.1. NM_001282761.1. [Q96G28-2]
NP_542398.3. NM_080667.6. [Q96G28-1]
UniGeneiHs.264208.

Genome annotation databases

EnsembliENST00000339012; ENSP00000342699; ENSG00000163001. [Q96G28-2]
ENST00000349456; ENSP00000295117; ENSG00000163001. [Q96G28-1]
GeneIDi112942.
KEGGihsa:112942.
UCSCiuc002ryx.2. human. [Q96G28-2]
uc002ryy.2. human. [Q96G28-1]

Polymorphism databases

DMDMi126215682.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY358097 mRNA. Translation: AAQ88464.1 .
BC010011 mRNA. Translation: AAH10011.1 .
AC019198 Genomic DNA. Translation: AAY14933.1 .
AC015982 Genomic DNA. Translation: AAY24269.1 .
CCDSi CCDS1854.2. [Q96G28-1 ]
CCDS62911.1. [Q96G28-2 ]
RefSeqi NP_001269690.1. NM_001282761.1. [Q96G28-2 ]
NP_542398.3. NM_080667.6. [Q96G28-1 ]
UniGenei Hs.264208.

3D structure databases

ProteinModelPortali Q96G28.
SMRi Q96G28. Positions 6-121.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125218. 4 interactions.
IntActi Q96G28. 3 interactions.
STRINGi 9606.ENSP00000295117.

PTM databases

PhosphoSitei Q96G28.

Polymorphism databases

DMDMi 126215682.

Proteomic databases

MaxQBi Q96G28.
PaxDbi Q96G28.
PRIDEi Q96G28.

Protocols and materials databases

DNASUi 112942.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000339012 ; ENSP00000342699 ; ENSG00000163001 . [Q96G28-2 ]
ENST00000349456 ; ENSP00000295117 ; ENSG00000163001 . [Q96G28-1 ]
GeneIDi 112942.
KEGGi hsa:112942.
UCSCi uc002ryx.2. human. [Q96G28-2 ]
uc002ryy.2. human. [Q96G28-1 ]

Organism-specific databases

CTDi 112942.
GeneCardsi GC02P055746.
H-InvDB HIX0002064.
HGNCi HGNC:30540. CCDC104.
HPAi HPA008994.
HPA017061.
neXtProti NX_Q96G28.
PharmGKBi PA145008608.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG321232.
GeneTreei ENSGT00390000012785.
HOGENOMi HOG000007745.
HOVERGENi HBG062543.
InParanoidi Q96G28.
OMAi MTEKPEM.
OrthoDBi EOG7C8GJF.
PhylomeDBi Q96G28.
TreeFami TF315143.

Miscellaneous databases

ChiTaRSi CCDC104. human.
GenomeRNAii 112942.
NextBioi 78717.
PMAP-CutDB Q96G28.
PROi Q96G28.

Gene expression databases

Bgeei Q96G28.
CleanExi HS_CCDC104.
ExpressionAtlasi Q96G28. baseline and differential.
Genevestigatori Q96G28.

Family and domain databases

Gene3Di 1.20.1520.10. 1 hit.
InterProi IPR023379. ARF-like_2-bdp_dom.
[Graphical view ]
Pfami PF11527. ARL2_Bind_BART. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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. Cited for: INTERACTION WITH ARL3, POSSIBLE FUNCTION.

Entry informationi

Entry nameiCC104_HUMAN
AccessioniPrimary (citable) accession number: Q96G28
Secondary accession number(s): Q53SF0, Q53ST9, Q6UY34
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: October 29, 2014
This is version 85 of the entry and version 2 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 2
    Human chromosome 2: 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