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CFDP1 craniofacial development protein 1 [ Homo sapiens (human) ]

Gene ID: 10428, updated on 17-Jun-2019

Summary

Official Symbol
CFDP1provided by HGNC
Official Full Name
craniofacial development protein 1provided by HGNC
Primary source
HGNC:HGNC:1873
See related
Ensembl:ENSG00000153774 MIM:608108
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p97; BCNT; CP27; SWC5; Yeti; CENP-29; BUCENTAUR
Expression
Ubiquitous expression in testis (RPKM 25.6), kidney (RPKM 23.5) and 25 other tissues See more
Orthologs

Genomic context

See CFDP1 in Genome Data Viewer
Location:
16q23.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (75293710..75433503, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75327608..75467387, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene BCAR1 scaffold protein, Cas family member Neighboring gene uncharacterized LOC105371344 Neighboring gene Sharpr-MPRA regulatory region 10346 Neighboring gene uncharacterized LOC105371345 Neighboring gene RNA, U6 small nuclear 758, pseudogene Neighboring gene CFDP1 intron CAGE-defined high expression enhancer Neighboring gene transmembrane protein 170A Neighboring gene carbohydrate sulfotransferase 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
NHGRI GWA Catalog
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
NHGRI GWA Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of fibroblast apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
craniofacial development protein 1
Names
centromere protein 29
phosphoprotein (Bucentaur)

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_006324.3NP_006315.1  craniofacial development protein 1

    See identical proteins and their annotated locations for NP_006315.1

    Status: VALIDATED

    Source sequence(s)
    AC009163, AW160432, BC000991, D86549
    Consensus CDS
    CCDS10916.1
    UniProtKB/Swiss-Prot
    Q9UEE9
    Related
    ENSP00000283882.3, ENST00000283882.4
    Conserved Domains (1) summary
    pfam07572
    Location:222295
    BCNT; Bucentaur or craniofacial development

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    75293710..75433503 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522814.2XP_011521116.1  craniofacial development protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011521116.1

    UniProtKB/TrEMBL
    A0A0H5APX3
  2. XM_011522815.2XP_011521117.1  craniofacial development protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011521117.1

    UniProtKB/TrEMBL
    A0A0H5AUJ9

RNA

  1. XR_001751819.2 RNA Sequence

  2. XR_001751818.2 RNA Sequence

  3. XR_933183.2 RNA Sequence

  4. XR_933182.3 RNA Sequence

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