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Aliases for CCDC163 Gene

Aliases for CCDC163 Gene

  • Coiled-Coil Domain Containing 163 2 3 5
  • Coiled-Coil Domain Containing 163, Pseudogene 2 3
  • Coiled-Coil Domain-Containing Protein 163 3 4
  • Transmembrane Protein CCDC163 3 4
  • C1orf231 3 4
  • CCDC163P 3 4
  • Coiled-Coil Domain Containing 163 Pseudogene 4
  • Chromosome 1 Open Reading Frame 231 2
  • Uncharacterized Protein LOC126661 3

External Ids for CCDC163 Gene

Previous HGNC Symbols for CCDC163 Gene

  • C1orf231
  • CCDC163P

Summaries for CCDC163 Gene

GeneCards Summary for CCDC163 Gene

CCDC163 (Coiled-Coil Domain Containing 163) is a Protein Coding gene. Diseases associated with CCDC163 include Methylmalonic Acidemia With Homocystinuria and Methylmalonic Aciduria And Homocystinuria, Cblc Type.

Additional gene information for CCDC163 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC163 Gene

Genomics for CCDC163 Gene

GeneHancer (GH) Regulatory Elements for CCDC163 Gene

Promoters and enhancers for CCDC163 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
GH01J045498 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 698.8 +0.1 98 3.3 ZFX SP1 ZNF652 ELF3 SIX5 ZNF148 NKRF POLR2A CEBPG GTF2F1 CCDC163 NASP MMACHC PIR33787 PRDX1 MUTYH LRRC41 AKR1A1 HMGB1P48 TOE1
GH01J045519 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 98.5 -21.2 -21171 4.9 MTA3 ZNF652 SP1 CC2D1A ZFX ELF3 MNT CBFA2T2 ZNF148 NKRF PRDX1 CCDC163 TOE1 MUTYH LRRC41 GPBP1L1 NASP ZSWIM5 ENSG00000234329 NSUN4
GH01J045489 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 98.7 +9.4 9378 3 ZFX SP1 CC2D1A ELF3 MNT CBFA2T2 NKRF MLLT1 ZNF121 CEBPG TESK2 CCDC163 NSUN4 PRDX1 LRRC41 TOE1 IPP GPBP1L1 KIF2C ZSWIM5
GH01J045526 Enhancer 1 Ensembl ENCODE 94.8 -26.9 -26862 4.7 MAFK SP1 PRDM1 ZNF384 CAVIN1 PKNOX1 RXRA NFE2L2 FOXA2 MNT CCDC163 MMACHC PRDX1 HMGB1P48
GH01J045582 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 37.8 -84.8 -84770 5.4 MTA3 SP1 CC2D1A ZFX NKRF POLR2A MLLT1 ZNF121 GTF2F1 CSDE1 NASP GC01M045583 TOE1 LRRC41 GPBP1L1 MUTYH ENSG00000234329 CCDC163 RPS8 HECTD3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC163 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CCDC163 Gene

Genomic Locations for CCDC163 Gene
chr1:45,493,866-45,500,079
(GRCh38/hg38)
Size:
6,214 bases
Orientation:
Minus strand
chr1:45,959,538-45,965,751
(GRCh37/hg19)
Size:
6,214 bases
Orientation:
Minus strand

Genomic View for CCDC163 Gene

Genes around CCDC163 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC163 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC163 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC163 Gene

Proteins for CCDC163 Gene

  • Protein details for CCDC163 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0A0D9SF12-CC163_HUMAN
    Recommended name:
    Transmembrane protein CCDC163
    Protein Accession:
    A0A0D9SF12

    Protein attributes for CCDC163 Gene

    Size:
    145 amino acids
    Molecular mass:
    16203 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCDC163 Gene

Post-translational modifications for CCDC163 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CCDC163 Gene

Domains & Families for CCDC163 Gene

Gene Families for CCDC163 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CCDC163 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC163: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CCDC163 Gene

Function for CCDC163 Gene

Phenotypes From GWAS Catalog for CCDC163 Gene

Phenotypes for CCDC163 Gene

genes like me logo Genes that share phenotypes with CCDC163: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC163 Gene

Localization for CCDC163 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC163 Gene

Membrane; Single-pass membrane protein.

Gene Ontology (GO) - Cellular Components for CCDC163 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CCDC163: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for CCDC163 Gene

Pathways & Interactions for CCDC163 Gene

PathCards logo

SuperPathways for CCDC163 Gene

No Data Available

Interacting Proteins for CCDC163 Gene

Gene Ontology (GO) - Biological Process for CCDC163 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC163 Gene

Drugs & Compounds for CCDC163 Gene

No Compound Related Data Available

Transcripts for CCDC163 Gene

mRNA/cDNA for CCDC163 Gene

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC163 Gene

No ASD Table

Relevant External Links for CCDC163 Gene

GeneLoc Exon Structure for
CCDC163
ECgene alternative splicing isoforms for
CCDC163

Expression for CCDC163 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC163 Gene:

CCDC163
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC163 Gene

Orthologs for CCDC163 Gene

Evolution for CCDC163 Gene

ENSEMBL:
Gene Tree for CCDC163 (if available)
TreeFam:
Gene Tree for CCDC163 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC163: view image

No data available for Orthologs for CCDC163 Gene

Paralogs for CCDC163 Gene

No data available for Paralogs for CCDC163 Gene

Variants for CCDC163 Gene

Sequence variations from dbSNP and Humsavar for CCDC163 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1553162317 pathogenic, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC 45,500,413(-) G/A upstream_transcript_variant
rs201898615 uncertain-significance, Disorders of Intracellular Cobalamin Metabolism 45,500,399(-) G/T upstream_transcript_variant
rs368071858 uncertain-significance, Disorders of Intracellular Cobalamin Metabolism 45,500,185(-) T/C upstream_transcript_variant
rs539415170 uncertain-significance, Disorders of Intracellular Cobalamin Metabolism 45,500,210(-) A/T upstream_transcript_variant
rs546099787 pathogenic, Methylmalonic acidemia with homocystinuria 45,500,412(-) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC163 Gene

Variant ID Type Subtype PubMed ID
esv1477203 CNV insertion 17803354
esv1741401 CNV insertion 17803354
esv2747808 CNV deletion 23290073
esv3893512 CNV gain 25118596
nsv829726 CNV loss 17160897

Variation tolerance for CCDC163 Gene

Gene Damage Index Score: 5.78; 73.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC163 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC163

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC163 Gene

Disorders for CCDC163 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CCDC163 Gene - From: GeneCards

Disorder Aliases PubMed IDs
methylmalonic acidemia with homocystinuria
  • vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase
methylmalonic aciduria and homocystinuria, cblc type
  • mahcc
disorders of intracellular cobalamin metabolism
methylmalonic acidemia
  • methylmalonic aciduria
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC163

genes like me logo Genes that share disorders with CCDC163: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC163 Gene

Publications for CCDC163 Gene

  1. Comparative analysis of an unusual gene arrangement in the human chromosome 1. (PMID: 18672041) Makałowska I (Gene 2008) 2 3 58
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for CCDC163 Gene

Sources for CCDC163 Gene

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