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CACFD1 calcium channel flower domain containing 1 [ Homo sapiens (human) ]

Gene ID: 11094, updated on 7-Jun-2020

Summary

Official Symbol
CACFD1provided by HGNC
Official Full Name
calcium channel flower domain containing 1provided by HGNC
Primary source
HGNC:HGNC:1365
See related
Ensembl:ENSG00000160325 MIM:613104
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
C9orf7; FLOWER; D9S2135
Expression
Broad expression in stomach (RPKM 8.2), colon (RPKM 7.0) and 25 other tissues See more
Orthologs

Genomic context

See CACFD1 in Genome Data Viewer
Location:
9q34.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (133459965..133470848)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136325087..136335909)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene surfeit 4 Neighboring gene serine/threonine kinase like domain containing 1 Neighboring gene REX4 homolog, 3'-5' exonuclease Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 13 Neighboring gene solute carrier family 2 member 6 Neighboring gene uncharacterized LOC102723855

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

Phenotypes

NHGRI GWAS Catalog

Description
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
NHGRI GWA Catalog

Pathways from PubChem

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
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
calcium channel flower homolog
Names
calcium channel flower domain-containing protein 1

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_001135775.3NP_001129247.1  calcium channel flower homolog isoform b

    See identical proteins and their annotated locations for NP_001129247.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an two alternate exons compared to variant 3. The resulting isoform (b) has a shorter and distinct C-terminus, compared to isoform c.
    Source sequence(s)
    AA436195, AK075416, AL593848, DB165724
    Consensus CDS
    CCDS48051.1
    UniProtKB/Swiss-Prot
    Q9UGQ2
    Related
    ENSP00000291722.7, ENST00000291722.11
    Conserved Domains (1) summary
    cl10918
    Location:35101
    Cg6151-P; Uncharacterized conserved protein CG6151-P
  2. NM_001242369.1NP_001229298.1  calcium channel flower homolog isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
    Source sequence(s)
    AA436195, AK296343, AL593848, BC030558, DB165724
    Consensus CDS
    CCDS56591.1
    UniProtKB/Swiss-Prot
    Q9UGQ2
    Related
    ENSP00000440832.1, ENST00000540581.5
    Conserved Domains (1) summary
    smart01077
    Location:35143
    Cg6151-P; Uncharacterized conserved protein CG6151-P
  3. NM_001242370.1NP_001229299.1  calcium channel flower homolog isoform d

    See identical proteins and their annotated locations for NP_001229299.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform c.
    Source sequence(s)
    AA436195, AK074852, AK298820, AL593848, DB165724
    Consensus CDS
    CCDS56592.1
    UniProtKB/Swiss-Prot
    Q9UGQ2
    Related
    ENSP00000444328.1, ENST00000542192.5
    Conserved Domains (1) summary
    cl10918
    Location:35101
    Cg6151-P; Uncharacterized conserved protein CG6151-P
  4. NM_017586.5NP_060056.1  calcium channel flower homolog isoform a

    See identical proteins and their annotated locations for NP_060056.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks an alternate exon compared to variant 3. The resulting isoform (a) has a shorter and distinct C-terminus, compared to isoform c.
    Source sequence(s)
    AA436195, AL593848, BC030558, DB165724
    Consensus CDS
    CCDS6974.1
    UniProtKB/Swiss-Prot
    Q9UGQ2
    Related
    ENSP00000317121.4, ENST00000316948.8
    Conserved Domains (1) summary
    smart01077
    Location:35143
    Cg6151-P; Uncharacterized conserved protein CG6151-P

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    133459965..133470848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518182.1XP_011516484.1  calcium channel flower homolog isoform X2

    See identical proteins and their annotated locations for XP_011516484.1

    Conserved Domains (1) summary
    smart01077
    Location:180
    Cg6151-P; Uncharacterized conserved protein CG6151-P
  2. XM_011518186.1XP_011516488.1  calcium channel flower homolog isoform X5

    See identical proteins and their annotated locations for XP_011516488.1

    Conserved Domains (1) summary
    cl10918
    Location:180
    Cg6151-P; Uncharacterized conserved protein CG6151-P
  3. XM_011518181.2XP_011516483.1  calcium channel flower homolog isoform X1

    See identical proteins and their annotated locations for XP_011516483.1

    Conserved Domains (1) summary
    smart01077
    Location:14115
    Cg6151-P; Uncharacterized conserved protein CG6151-P
  4. XM_011518185.2XP_011516487.1  calcium channel flower homolog isoform X4

    See identical proteins and their annotated locations for XP_011516487.1

    Conserved Domains (1) summary
    smart01077
    Location:14115
    Cg6151-P; Uncharacterized conserved protein CG6151-P
  5. XM_024447398.1XP_024303166.1  calcium channel flower homolog isoform X2

    Conserved Domains (1) summary
    smart01077
    Location:180
    Cg6151-P; Uncharacterized conserved protein CG6151-P
  6. XM_011518184.1XP_011516486.1  calcium channel flower homolog isoform X3

    See identical proteins and their annotated locations for XP_011516486.1

    Conserved Domains (1) summary
    cl10918
    Location:1473
    Cg6151-P; Uncharacterized conserved protein CG6151-P

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_009646201.1 Reference GRCh38.p13 PATCHES

    Range
    286059..296942
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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