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

Gene ID: 26585, updated on 7-May-2016
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 HPRD:07048; 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]
Orthologs
Location:
15q13.3
Exon count:
2
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (32717974..32734669)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (33010175..33026870)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370757 Neighboring gene uncharacterized LOC105370756 Neighboring gene secretogranin V Neighboring gene uncharacterized LOC100131315 Neighboring gene formin 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 71 Neighboring gene uncharacterized LOC105370759

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
NHGRI GWA Catalog
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
NHGRI GWA Catalog
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
NHGRI GWA Catalog
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
NHGRI GWA Catalog
Meta-analysis of new genome-wide association studies of colorectal cancer risk.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126660

Gene Ontology Provided by GOA

Function Evidence Code Pubs
BMP binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cytokine activity IEA
Inferred from Electronic Annotation
more info
 
morphogen activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor agonist activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
transmembrane receptor protein tyrosine kinase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
vascular endothelial growth factor receptor 2 binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
activation of transmembrane receptor protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell migration involved in sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cell morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell signaling IEA
Inferred from Electronic Annotation
more info
 
collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
determination of dorsal identity IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
limb development IMP
Inferred from Mutant Phenotype
more info
PubMed 
mesenchymal to epithelial transition involved in metanephros morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of bone mineralization involved in bone maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of bone remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of bone trabecula formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of monocyte chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of osteoblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of osteoclast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
positive regulation of NF-kappaB import into nucleus IEA
Inferred from Electronic Annotation
more info
 
positive regulation of NF-kappaB transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cardiac muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of peptidyl-tyrosine autophosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of receptor internalization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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 
proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
 
regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
 
NOT regulation of stress-activated MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT signal transduction by p53 class mediator ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
ureteric bud formation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface IEA
Inferred from Electronic Annotation
more info
 
extracellular space NAS
Non-traceable Author Statement
more info
PubMed 
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
increased in high glucose-2

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_033791.1 RefSeqGene

    Range
    5001..21666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001191322.1NP_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:12114
    DAN; DAN domain
  2. NM_001191323.1NP_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, OTTHUMP00000247848, ENST00000560830, OTTHUMT00000417303
    Conserved Domains (1) summary
    pfam03045
    Location:41143
    DAN; DAN domain
  3. NM_013372.6NP_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
    ENSP00000478319, OTTHUMP00000159660, ENST00000622074, OTTHUMT00000251455
    Conserved Domains (1) summary
    pfam03045
    Location:68184
    DAN; DAN domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    32717974..32734669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254301.1XP_005254358.1  

    See identical proteins and their annotated locations for XP_005254358.1

    Conserved Domains (1) summary
    pfam03045
    Location:124240
    DAN; DAN domain

Reference GRCh38.p2 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p2 PATCHES

    Range
    4770116..4786799
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011548909.1XP_011547211.1  

    See identical proteins and their annotated locations for XP_011547211.1

    Conserved Domains (1) summary
    pfam03045
    Location:124240
    DAN; DAN domain

Reference GRCh38.p2 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p2 ALT_REF_LOCI_2

    Range
    4932568..4949251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006725542.1XP_006725605.1  

    See identical proteins and their annotated locations for XP_006725605.1

    Conserved Domains (1) summary
    pfam03045
    Location:124240
    DAN; DAN domain

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    33128259..33144912
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)