CCDC91 Gene (Protein Coding)

Coiled-Coil Domain Containing 91

GC12P028133
GIFtS:
36
See more...

Aliases for CCDC91 Gene

Aliases for CCDC91 Gene

  • Coiled-Coil Domain Containing 91 2 3 5
  • Coiled-Coil Domain-Containing Protein 91 3 4
  • P56 Accessory Protein 3 4
  • GGA-Binding Partner 3 4
  • P56 2 3
  • GGA Binding Partner 2
  • DKFZp779L1558 2
  • FLJ11088 2
  • CCDC91 5
  • GGABP 4
  • HSD8 3

External Ids for CCDC91 Gene

Previous GeneCards Identifiers for CCDC91 Gene

  • GC12P028302
  • GC12P028410
  • GC12P028179

Summaries for CCDC91 Gene

GeneCards Summary for CCDC91 Gene

CCDC91 (Coiled-Coil Domain Containing 91) is a Protein Coding gene. Diseases associated with CCDC91 include Ossification Of The Posterior Longitudinal Ligament Of Spine and Autism. Gene Ontology (GO) annotations related to this gene include identical protein binding.

UniProtKB/Swiss-Prot Summary for CCDC91 Gene

  • Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes.

Additional gene information for CCDC91 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC91 Gene

Genomics for CCDC91 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CCDC91 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J028126 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 262.5 -3.7 -3654 6.8 TBP MNT IKZF1 HES1 BHLHE40 ARNT ZNF395 NFATC3 VEZF1 NBN CCDC91 LOC105369710 REP15 PTHLH LOC107984462
GH12J028257 Promoter 0.3 EPDnew 250.1 +123.9 123929 0.1 CCDC91 piR-50444-076 piR-44460 FAR2
GH12J028189 Promoter/Enhancer 2.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.7 +57.7 57707 3.3 ZSCAN16 TBP ZBTB10 MXD4 NR2C1 MNT IKZF1 SMAD5 ETS1 ZFP64 ENSG00000247934 LOC729291 lnc-KLHL42-5 CCDC91 piR-56759-111 FAR2
GH12J028222 Enhancer 0.7 Ensembl ENCODE 14.1 +89.9 89852 3.8 IRF4 SPI1 BATF ZNF24 ATF4 ZNF133 JUNB RUNX3 ETV6 HMBOX1 CCDC91 ENSG00000247934 ENSG00000273989 piR-30957 lnc-KLHL42-5 FAR2
GH12J027998 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.2 -133.6 -133635 2 FOSL1 GATA3 TCF7L2 ZNF217 FOXA1 ZBTB33 EP300 ATF7 CEBPB PTHLH CCDC91 ENSG00000257042 piR-61580-121 piR-33614-054
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC91 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC91

Top Transcription factor binding sites by QIAGEN in the CCDC91 gene promoter:
  • AML1a
  • NF-AT
  • Pax-2
  • Pax-2a
  • Pax-2b
  • ZID

Genomic Locations for CCDC91 Gene

Latest Assembly
chr12:28,133,249-28,581,511
(GRCh38/hg38)
Size:
448,263 bases
Orientation:
Plus strand

Previous Assembly
chr12:28,343,389-28,703,099
(GRCh37/hg19 by Entrez Gene)
Size:
359,711 bases
Orientation:
Plus strand

chr12:28,286,182-28,732,883
(GRCh37/hg19 by Ensembl)
Size:
446,702 bases
Orientation:
Plus strand

Genomic View for CCDC91 Gene

Genes around CCDC91 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC91 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC91 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CCDC91 Gene

Proteins for CCDC91 Gene

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  1. Antibodies for research
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  • Protein details for CCDC91 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z6B0-CCD91_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 91
    Protein Accession:
    Q7Z6B0
    Secondary Accessions:
    • B3KSA3
    • C9JR07
    • Q68D43
    • Q6IA78
    • Q8NEN7
    • Q9NUW9

    Protein attributes for CCDC91 Gene

    Size:
    441 amino acids
    Molecular mass:
    49971 Da
    Quaternary structure:
    • Homodimer. Interacts with GGA1, GGA2 and AP1G1.
    SequenceCaution:
    • Sequence=BAA91995.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: Binds GGAs.
    • [Isoform 2]: Does not bind GGAs.

    Three dimensional structures from OCA and Proteopedia for CCDC91 Gene

    Alternative splice isoforms for CCDC91 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC91 Gene

Protein Expression for CCDC91 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CCDC91 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC91 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for CCDC91
  • Santa Cruz Biotechnology (SCBT) Antibodies for CCDC91

No data available for DME Specific Peptides for CCDC91 Gene

Domains & Families for CCDC91 Gene

Gene Families for CCDC91 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC91 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC91 Gene

GenScript: Design optimal peptide antigens:
  • p56 accessory protein (CCD91_HUMAN)
  • CCDC91 protein (Q05D28_HUMAN)
genes like me logo Genes that share domains with CCDC91: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC91 Gene

Function for CCDC91 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for CCDC91 Gene

UniProtKB/Swiss-Prot Function:
Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes.

Phenotypes From GWAS Catalog for CCDC91 Gene

Gene Ontology (GO) - Molecular Function for CCDC91 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with CCDC91: view
genes like me logo Genes that share phenotypes with CCDC91: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC91

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC91 Gene

Localization for CCDC91 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC91 Gene

Membrane. Peripheral membrane protein. Golgi apparatus, trans-Golgi network membrane. Peripheral membrane protein. Golgi apparatus, trans-Golgi network. Note=Colocalizes with GGA1, GGA2 and GGA3. {ECO:0000269 PubMed:12808037, ECO:0000269 PubMed:17596511}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC91 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC91 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005794 Golgi apparatus IEA,IDA --
GO:0005802 trans-Golgi network IBA,IDA 17596511
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CCDC91: view

Pathways & Interactions for CCDC91 Gene

PathCards logo

SuperPathways for CCDC91 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC91 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0048193 Golgi vesicle transport IEA --
GO:0090160 Golgi to lysosome transport IBA,IMP 17596511
genes like me logo Genes that share ontologies with CCDC91: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC91 Gene

Drugs & Compounds for CCDC91 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for CCDC91 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for CCDC91 Gene

12 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC91

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC91 Gene

No ASD Table

Relevant External Links for CCDC91 Gene

GeneLoc Exon Structure for
CCDC91

Expression for CCDC91 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC91 Gene

mRNA expression in normal human tissues for CCDC91 Gene
mRNA expression by GTEx for CCDC91 GenemRNA expression by BioGPS for CCDC91 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC91 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (34.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC91 Gene



Protein tissue co-expression partners for CCDC91 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC91

SOURCE GeneReport for Unigene cluster for CCDC91 Gene:

Hs.653125

mRNA Expression by UniProt/SwissProt for CCDC91 Gene:

Q7Z6B0-CCD91_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for CCDC91 Gene

  • Liver(4.3)
  • Nervous system(2.2)
  • Heart(2.2)
  • Skin(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with CCDC91: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC91 Gene

Orthologs for CCDC91 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC91 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CCDC91 30 31
  • 97.1 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CCDC91 30 31
  • 94.56 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CCDC91 30 31
  • 92.52 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ccdc91 30 17 31
  • 77.4 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ccdc91 30
  • 76.57 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CCDC91 31
  • 64 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CCDC91 31
  • 53 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CCDC91 30
  • 69.3 (n)
Lizard
(Anolis carolinensis)
 Reptilia CCDC91 31
  • 52 (a)
 OneToOne
Species where no ortholog for CCDC91 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CCDC91 Gene

ENSEMBL:
Gene Tree for CCDC91 (if available)
TreeFam:
Gene Tree for CCDC91 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC91: view image

Paralogs for CCDC91 Gene

No data available for Paralogs for CCDC91 Gene

Variants for CCDC91 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC91 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs143087318 Benign: not provided 28,306,836(+) A/G
NM_018318.5(CCDC91):c.362A>G (p.Asp121Gly) 		MISSENSE_VARIANT,FIVE_PRIME_UTR
rs61731729 Benign: not provided 28,484,157(+) C/A
NM_018318.5(CCDC91):c.1207C>A (p.Gln403Lys) 		MISSENSE
rs10771427 - p.Val314Met
rs1133028 - p.Met261Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCDC91 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CCDC91 Gene

Variant ID Type Subtype PubMed ID
dgv1408n100 CNV gain 25217958
dgv190n27 CNV loss 19166990
dgv191n27 CNV loss 19166990
dgv2434n54 CNV loss 21841781
dgv2435n54 CNV loss 21841781
dgv2436n54 CNV loss 21841781
dgv2437n54 CNV gain 21841781
dgv93n21 CNV loss 19592680
esv1402084 CNV insertion 17803354
esv3304110 CNV mobile element insertion 20981092
esv3304556 CNV mobile element insertion 20981092
esv3307294 CNV mobile element insertion 20981092
esv3307638 CNV mobile element insertion 20981092
esv3342264 CNV insertion 20981092
esv3343158 CNV insertion 20981092
esv3372141 CNV insertion 20981092
esv3396129 CNV insertion 20981092
esv3400173 CNV insertion 20981092
esv3407308 CNV insertion 20981092
esv3446167 CNV insertion 20981092
esv3628963 CNV loss 21293372
esv3628965 CNV loss 21293372
esv3628966 CNV loss 21293372
esv3628970 CNV loss 21293372
esv3628971 CNV gain 21293372
esv3892168 CNV loss 25118596
nsv1038470 CNV loss 25217958
nsv1043710 CNV loss 25217958
nsv1046821 CNV gain 25217958
nsv469179 CNV loss 19166990
nsv469181 CNV loss 19166990
nsv469188 CNV loss 19166990
nsv469189 CNV gain 19166990
nsv516088 CNV gain 19592680
nsv519119 CNV gain 19592680
nsv521777 CNV loss 19592680
nsv523622 CNV gain 19592680
nsv523992 CNV loss 19592680
nsv527047 CNV loss 19592680
nsv557864 CNV gain 21841781
nsv557876 CNV gain 21841781
nsv557879 CNV loss 21841781
nsv557882 CNV loss 21841781
nsv653 CNV deletion 18451855
nsv654 CNV insertion 18451855
nsv826290 CNV loss 20364138
nsv973985 CNV duplication 23825009

Variation tolerance for CCDC91 Gene

Residual Variation Intolerance Score: 55.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.99; 84.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC91 Gene

Human Gene Mutation Database (HGMD)
CCDC91
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC91

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC91 Gene

Disorders for CCDC91 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CCDC91 Gene - From: CVR and COP

Disorder Aliases PubMed IDs
ossification of the posterior longitudinal ligament of spine
  • opll
autism
  • autistic disorder
diffuse idiopathic skeletal hyperostosis
  • ankylosing vertebral hyperostosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC91

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CCDC91: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC91 Gene

Publications for CCDC91 Gene

  1. The trans-Golgi network accessory protein p56 promotes long-range movement of GGA/clathrin-containing transport carriers and lysosomal enzyme sorting. (PMID: 17596511) Mardones GA … Bonifacino JS (Molecular biology of the cell 2007) 3 4 23
  2. Structural basis for binding of accessory proteins by the appendage domain of GGAs. (PMID: 12858163) Collins BM … Owen DJ (Nature structural biology 2003) 3 4 23
  3. Binding partners for the COOH-terminal appendage domains of the GGAs and gamma-adaptin. (PMID: 12808037) Lui WW … Robinson MS (Molecular biology of the cell 2003) 2 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 41

ExternalLinks

View latest publications for CCDC91 gene in Mastermind

Products for CCDC91 Gene

Sources for CCDC91 Gene