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KREMEN1 kringle containing transmembrane protein 1 [ Homo sapiens (human) ]

Gene ID: 83999, updated on 26-Apr-2020

Summary

Official Symbol
KREMEN1provided by HGNC
Official Full Name
kringle containing transmembrane protein 1provided by HGNC
Primary source
HGNC:HGNC:17550
See related
Ensembl:ENSG00000183762 MIM:609898
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
KRM1; ECTD13; KREMEN
Summary
This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in skin (RPKM 9.8), esophagus (RPKM 9.6) and 23 other tissues See more
Orthologs

Genomic context

See KREMEN1 in Genome Data Viewer
Location:
22q12.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (29073035..29168333)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29469066..29564321)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene zinc and ring finger 3 Neighboring gene Sharpr-MPRA regulatory region 13625 Neighboring gene ZNRF3 antisense RNA 1 Neighboring gene chromosome 22 open reading frame 31 Neighboring gene RNA, U6 small nuclear 810, pseudogene Neighboring gene uncharacterized LOC101929638 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1165 Neighboring gene RNA, U6 small nuclear 1219, pseudogene

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
Ectodermal dysplasia 13, hair/tooth type
MedGen: C4479322 OMIM: 617392 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
NHGRI GWA Catalog
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31863

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
cell communication TAS
Traceable Author Statement
more info
PubMed 
limb development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of axon regeneration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of ossification IEA
Inferred from Electronic Annotation
more info
 
regulation of canonical Wnt signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
kremen protein 1
Names
dickkopf receptor
kringle domain-containing transmembrane protein 1
kringle-coding gene marking the eye and the nose
kringle-containing protein marking the eye and the nose
NP_001034659.2
NP_114434.3
XP_011528731.1
XP_011528732.1
XP_011528733.1
XP_011528734.1
XP_016884478.1

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.

Genomic

  1. NG_052986.1 RefSeqGene

    Range
    4958..100256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039570.3NP_001034659.2  kremen protein 1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001034659.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region, compared to variant 2. The resulting isoform has a distinct C-terminus and is shorter than isoform 2.
    Source sequence(s)
    AL021393, Z95116
    Consensus CDS
    CCDS43000.2
    UniProtKB/Swiss-Prot
    Q96MU8
    Related
    ENSP00000383189.4, ENST00000400335.8
    Conserved Domains (3) summary
    cd00041
    Location:216322
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00108
    Location:33116
    KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...
    pfam01822
    Location:121202
    WSC; WSC domain
  2. NM_032045.5NP_114434.3  kremen protein 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_114434.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the shorter transcript but encodes the longer isoform (2).
    Source sequence(s)
    AK056425, AL021393, Z95116
    Consensus CDS
    CCDS13849.1
    UniProtKB/Swiss-Prot
    Q96MU8
    Related
    ENSP00000331242.5, ENST00000327813.9
    Conserved Domains (3) summary
    cd00041
    Location:216322
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00108
    Location:33116
    KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...
    pfam01822
    Location:121202
    WSC; WSC domain

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_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    29073035..29168333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530430.2XP_011528732.1  kremen protein 1 isoform X2

    Conserved Domains (2) summary
    cd00041
    Location:123229
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00108
    Location:33116
    KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...
  2. XM_017028989.1XP_016884478.1  kremen protein 1 isoform X4

  3. XM_011530429.2XP_011528731.1  kremen protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011528731.1

    Conserved Domains (3) summary
    cd00041
    Location:216322
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00108
    Location:33116
    KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...
    pfam01822
    Location:121202
    WSC; WSC domain
  4. XM_011530432.2XP_011528734.1  kremen protein 1 isoform X5

    Conserved Domains (2) summary
    cd00041
    Location:77183
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam01822
    Location:2063
    WSC; WSC domain
  5. XM_011530431.2XP_011528733.1  kremen protein 1 isoform X3

    Conserved Domains (2) summary
    cd00041
    Location:111217
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam01822
    Location:1697
    WSC; WSC domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_153379.2: Suppressed sequence

    Description
    NM_153379.2: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
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