Human Gene CCDC91 (uc001riq.3)
  Description: Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr12:28,410,135-28,703,099 Size: 292,965 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr12:28,410,149-28,702,106 Size: 291,958 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:28,410,135-28,703,099)mRNA (may differ from genome)Protein (441 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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MGIneXtProtOMIMPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: CCD91_HUMAN
DESCRIPTION: RecName: Full=Coiled-coil domain-containing protein 91; AltName: Full=GGA-binding partner; AltName: Full=p56 accessory protein;
FUNCTION: Involved in the regulation of membrane traffic through the trans-Golgi network (TGN).
SUBUNIT: Homodimer. Interacts with GGA1, GGA2 and AP1G1.
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Note=Colocalizes with GGA1 and GGA2. May be recruited to the TGN by GGA1 and GGA2.
TISSUE SPECIFICITY: Widely expressed.
SEQUENCE CAUTION: Sequence=BAA91995.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CCDC91
CDC HuGE Published Literature: CCDC91
Positive Disease Associations: Alcohol Drinking , Body Height , Echocardiography , Respiratory Function Tests
Related Studies:
  1. Alcohol Drinking
    , , . [PubMed 0]
  2. Body Height
    Hana Lango Allen et al. Nature 2010, Hundreds of variants clustered in genomic loci and biological pathways affect human height., Nature. [PubMed 20881960]
  3. Echocardiography
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 33.12 RPKM in Testis
Total median expression: 256.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -212.46993-0.214 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Protein Data Bank (PDB) 3-D Structure
MuPIT help
1OM9 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q7Z6B0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0042802 identical protein binding

Biological Process:
GO:0015031 protein transport
GO:0048193 Golgi vesicle transport
GO:0090160 Golgi to lysosome transport

Cellular Component:
GO:0005654 nucleoplasm
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK093152 - Homo sapiens cDNA FLJ35833 fis, clone TESTI2006565, highly similar to Coiled-coil domain-containing protein 91.
AX747957 - Sequence 1482 from Patent EP1308459.
AK309181 - Homo sapiens cDNA, FLJ99222.
BC018679 - Homo sapiens coiled-coil domain containing 91, mRNA (cDNA clone IMAGE:4663649), partial cds.
AY289196 - Homo sapiens p56 mRNA, complete cds.
AB587421 - Synthetic construct DNA, clone: pF1KB6636, Homo sapiens CCDC91 gene for coiled-coil domain containing 91, without stop codon, in Flexi system.
BC028682 - Homo sapiens coiled-coil domain containing 91, mRNA (cDNA clone MGC:26162 IMAGE:4827882), complete cds.
KJ902808 - Synthetic construct Homo sapiens clone ccsbBroadEn_12202 CCDC91 gene, encodes complete protein.
CR749586 - Homo sapiens mRNA; cDNA DKFZp779L1558 (from clone DKFZp779L1558).
AK001950 - Homo sapiens cDNA FLJ11088 fis, clone PLACE1005287, weakly similar to INNER CENTROMERE PROTEIN.
AY251168 - Homo sapiens HSD8 mRNA, complete cds.
CR457277 - Homo sapiens full open reading frame cDNA clone RZPDo834F029D for gene FLJ11088, GGA binding partner; complete cds, incl. stopcodon.
DQ576348 - Homo sapiens piRNA piR-44460, complete sequence.
JD038079 - Sequence 19103 from Patent EP1572962.
JD082261 - Sequence 63285 from Patent EP1572962.
JD501167 - Sequence 482191 from Patent EP1572962.
JD377373 - Sequence 358397 from Patent EP1572962.
JD359475 - Sequence 340499 from Patent EP1572962.
JD349831 - Sequence 330855 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KSA3, C9JR07, CCD91_HUMAN, GGABP, HSD8, NM_018318, NP_060788, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
UCSC ID: uc001riq.3
RefSeq Accession: NM_018318
Protein: Q7Z6B0 (aka CCD91_HUMAN)
CCDS: CCDS8716.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_018318.3
exon count: 12CDS single in 3' UTR: no RNA size: 2352
ORF size: 1326CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2849.00frame shift in genome: no % Coverage: 99.19
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.