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GREM1 gremlin 1, DAN family BMP antagonist [ Homo sapiens (human) ]

Gene ID: 26585, updated on 26-Jul-2021

Summary

Official Symbol
GREM1provided by HGNC
Official Full Name
gremlin 1, DAN family BMP antagonistprovided by HGNC
Primary source
HGNC:HGNC:2001
See related
Ensembl:ENSG00000166923 MIM:603054
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DRM; HMPS; MPSH; PIG2; CRAC1; CRCS4; DAND2; HMPS1; IHG-2; DUP15q; C15DUPq; GREMLIN; CKTSF1B1
Summary
This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Expression
Biased expression in gall bladder (RPKM 205.9), appendix (RPKM 84.5) and 6 other tissues See more
Orthologs
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Genomic context

See GREM1 in Genome Data Viewer
Location:
15q13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (32718004..32745106)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (33010205..33037307)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ARHGAP11A-SCG5 readthrough Neighboring gene uncharacterized LOC105370756 Neighboring gene SCG5 antisense RNA 1 Neighboring gene secretogranin V Neighboring gene GREM1 antisense RNA 1 Neighboring gene uncharacterized LOC107984089 Neighboring gene formin 1 Neighboring gene microtubule-associated proteins 1A/1B light chain 3 beta 2-like

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
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
GeneReviews: Not available
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
GeneReviews: Not available
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
GeneReviews: Not available
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
GeneReviews: Not available
Meta-analysis of new genome-wide association studies of colorectal cancer risk.
GeneReviews: Not available

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2020-08-20)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2020-08-20)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126660

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables BMP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables BMP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables BMP binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables cytokine activity IEA
Inferred from Electronic Annotation
more info
 
enables morphogen activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables receptor ligand activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables receptor ligand activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables transmembrane receptor protein tyrosine kinase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables vascular endothelial growth factor receptor 2 binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
involved_in activation of transmembrane receptor protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cell migration involved in sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cell morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell-cell signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in determination of dorsal identity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in limb development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mesenchymal to epithelial transition involved in metanephros morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of bone mineralization involved in bone maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of bone remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of bone trabecula formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of monocyte chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in negative regulation of osteoblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of osteoclast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of NF-kappaB transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of NIK/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cardiac muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of peptidyl-tyrosine autophosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of receptor internalization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of signaling receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
 
NOT involved_in regulation of stress-activated MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in sequestering of BMP from receptor via BMP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT involved_in signal transduction by p53 class mediator ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in ureteric bud formation IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
gremlin-1
Names
DAN domain family member 2
cell proliferation-inducing gene 2 protein
colorectal adenoma and carcinoma 1
cysteine knot superfamily 1, BMP antagonist 1
down-regulated in Mos-transformed cells protein
gremlin 1, cysteine knot superfamily, homolog
gremlin 1-like protein
hereditary mixed polyposis syndrome
increased in high glucose-2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_033791.2 RefSeqGene

    Range
    5001..32103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1365

mRNA and Protein(s)

  1. NM_001191322.2NP_001178251.1  gremlin-1 isoform 3

    See identical proteins and their annotated locations for NP_001178251.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame segment in the CDS, as compared to variant 1. The resulting isoform (3) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC090877, AK095972
    UniProtKB/TrEMBL
    B3KTR9
    Conserved Domains (1) summary
    pfam03045
    Location:9109
    DAN; DAN domain
  2. NM_001191323.2NP_001178252.1  gremlin-1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001178252.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC090877, AK095890
    Consensus CDS
    CCDS53927.1
    UniProtKB/Swiss-Prot
    O60565
    Related
    ENSP00000453141.1, ENST00000560830.1
    Conserved Domains (1) summary
    pfam03045
    Location:36138
    DAN; DAN domain
  3. NM_001368719.1NP_001355648.1  gremlin-1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC090877
    Related
    ENSP00000498763.1, ENST00000652365.1
    Conserved Domains (1) summary
    pfam03045
    Location:72179
    DAN; DAN domain
  4. NM_013372.7NP_037504.1  gremlin-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_037504.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC090877, AK095890, W19275
    Consensus CDS
    CCDS10029.1
    UniProtKB/Swiss-Prot
    O60565
    UniProtKB/TrEMBL
    A6XAA7
    Related
    ENSP00000498748.1, ENST00000651154.1
    Conserved Domains (1) summary
    pfam03045
    Location:72179
    DAN; DAN domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    32718004..32745106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p13 PATCHES

    Range
    4770146..4797252
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_012132920.1 Reference GRCh38.p13 PATCHES

    Range
    2236418..2263520
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    4932598..4959704
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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