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CGREF1 cell growth regulator with EF-hand domain 1 [ Homo sapiens (human) ]

Gene ID: 10669, updated on 4-Oct-2020

Summary

Official Symbol
CGREF1provided by HGNC
Official Full Name
cell growth regulator with EF-hand domain 1provided by HGNC
Primary source
HGNC:HGNC:16962
See related
Ensembl:ENSG00000138028 MIM:606137
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
CGR11
Expression
Broad expression in kidney (RPKM 22.2), small intestine (RPKM 16.6) and 14 other tissues See more
Orthologs

Genomic context

See CGREF1 in Genome Data Viewer
Location:
2p23.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27099353..27119128, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27322159..27341995, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATP/GTP binding protein like 5 Neighboring gene oligosaccharyltransferase complex subunit 4, non-catalytic Neighboring gene elastin microfibril interfacer 1 Neighboring gene ketohexokinase Neighboring gene abhydrolase domain containing 1 Neighboring gene prolactin regulatory element binding Neighboring gene proline rich 30

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

Associated conditions

Description Tests
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of cell growth regulator with EF-hand domain 1 (CGREF1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell cycle arrest IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cell growth regulator with EF hand domain protein 1
Names
cell growth regulatory gene 11 protein
hydrophobestin

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_001166239.2NP_001159711.1  cell growth regulator with EF hand domain protein 1 isoform a precursor

    See identical proteins and their annotated locations for NP_001159711.1

    Status: VALIDATED

    Description
    This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a) and both contain a 51-nucleotide tandem repeat in their 3' CDS. This tandem repeat is present in the reference genome sequence but is absent or shorter in other human genomes.
    Source sequence(s)
    AC013403
    Consensus CDS
    CCDS33162.2
    UniProtKB/Swiss-Prot
    Q99674
    Related
    ENSP00000386113.1, ENST00000405600.5
    Conserved Domains (2) summary
    TIGR00927
    Location:180309
    2A1904; K+-dependent Na+/Ca+ exchanger
    pfam13499
    Location:71142
    EF-hand_7; EF-hand domain pair
  2. NM_001166240.2NP_001159712.1  cell growth regulator with EF hand domain protein 1 isoform b precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC013403, AK302185, BM849276, BX419588
    Consensus CDS
    CCDS54339.1
    UniProtKB/Swiss-Prot
    Q99674
    Related
    ENSP00000385103.1, ENST00000402550.5
    Conserved Domains (1) summary
    pfam13499
    Location:71106
    EF-hand_7; EF-hand domain pair
  3. NM_001301324.2NP_001288253.1  cell growth regulator with EF hand domain protein 1 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains alternate 3' exon structure, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC013403, AK302185, AL536349, BM849276, BX419588
    UniProtKB/Swiss-Prot
    Q99674
  4. NM_006569.6NP_006560.3  cell growth regulator with EF hand domain protein 1 isoform a precursor

    See identical proteins and their annotated locations for NP_006560.3

    Status: VALIDATED

    Description
    This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 encode the same isoform (a) and both contain a 51-nucleotide tandem repeat in their 3' CDS. This tandem repeat is present in the reference genome sequence but is absent or shorter in other human genomes.
    Source sequence(s)
    AC013403
    Consensus CDS
    CCDS33162.2
    UniProtKB/Swiss-Prot
    Q99674
    Related
    ENSP00000385452.1, ENST00000402394.6
    Conserved Domains (2) summary
    TIGR00927
    Location:180309
    2A1904; K+-dependent Na+/Ca+ exchanger
    pfam13499
    Location:71142
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    27099353..27119128 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001166241.1: Suppressed sequence

    Description
    NM_001166241.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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