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

Gene ID: 10428, updated on 22-Jan-2023

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; AllianceGenome:HGNC:1873
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
Summary
Predicted to act upstream of or within several processes, including cell adhesion; negative regulation of fibroblast apoptotic process; and regulation of cell shape. Predicted to be located in kinetochore. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 25.6), kidney (RPKM 23.5) and 25 other tissues See more
Orthologs
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Genomic context

See CFDP1 in Genome Data Viewer
Location:
16q23.1
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (75293710..75433503, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (81340442..81479377, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75327608..75467401, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene BCAR1 scaffold protein, Cas family member Neighboring gene uncharacterized LOC105371344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75290057-75290597 Neighboring gene RNA, U6 small nuclear 758, pseudogene Neighboring gene CFDP1 intron CAGE-defined high expression enhancer Neighboring gene small nucleolar RNA SNORA76 Neighboring gene tigger transposable element-derived protein 1-like Neighboring gene transmembrane protein 170A

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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in chromatin remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in fibroblast apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of fibroblast apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of Swr1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cellular_component ND
No biological Data available
more info
 
located_in kinetochore IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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, Q9UEF8
    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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011522814.3XP_011521116.1  craniofacial development protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011521116.1

    UniProtKB/TrEMBL
    A0A0H5APX3
  2. XM_047433504.1XP_047289460.1  craniofacial development protein 1 isoform X1

  3. XM_047433503.1XP_047289459.1  craniofacial development protein 1 isoform X1

  4. XM_011522815.3XP_011521117.1  craniofacial development protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011521117.1

    UniProtKB/TrEMBL
    A0A0H5AUJ9

RNA

  1. XR_007064846.1 RNA Sequence

  2. XR_007064847.1 RNA Sequence

  3. XR_007064845.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    81340442..81479377 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)