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Protein

Kremen protein 1

Gene

KREMEN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. In the absence of DKK1, potentiates Wnt-beta-catenin signaling by maintaining LRP5 or LRP6 at the cell membrane. Can trigger apoptosis in a Wnt-independent manner and this apoptotic activity is inhibited upon binding of the ligand DKK1. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation. Modulates cell fate decisions in the developing cochlea with an inhibitory role in hair cell fate specification.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processWnt signaling pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-3772470 Negative regulation of TCF-dependent signaling by WNT ligand antagonists
R-HSA-5339717 Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q96MU8

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q96MU8

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Kremen protein 1
Alternative name(s):
Dickkopf receptor
Kringle domain-containing transmembrane protein 1
Kringle-containing protein marking the eye and the nose
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KREMEN1
Synonyms:KREMEN, KRM1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000183762.12

Human Gene Nomenclature Database

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HGNCi
HGNC:17550 KREMEN1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609898 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96MU8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini21 – 392ExtracellularSequence analysisAdd BLAST372
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei393 – 413HelicalSequence analysisAdd BLAST21
Topological domaini414 – 473CytoplasmicSequence analysisAdd BLAST60

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Ectodermal dysplasia 13, hair/tooth type (ECTD13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD13 is an autosomal recessive form characterized by severe oligodontia accompanied by anomalies of hair and skin.
See also OMIM:617392
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078807207F → S in ECTD13. 1 PublicationCorresponds to variant dbSNP:rs1057524917Ensembl.1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNET

More...
DisGeNETi
83999

MalaCards human disease database

More...
MalaCardsi
KREMEN1
MIMi617392 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000183762

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA38241

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KREMEN1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
212287927

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 19Sequence analysisAdd BLAST19
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002156420 – 473Kremen protein 1Add BLAST454

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi32 ↔ 114Combined sources1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi45N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi55 ↔ 95Combined sources1 Publication
Glycosylationi59N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi84 ↔ 109Combined sources1 Publication
Disulfide bondi122 ↔ 186Combined sources1 Publication
Disulfide bondi147 ↔ 167Combined sources1 Publication
Disulfide bondi151 ↔ 169Combined sources1 Publication
Disulfide bondi190 ↔ 198Combined sources1 Publication
Disulfide bondi214 ↔ 240Combined sources1 Publication
Glycosylationi217N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi293N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi333N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi345N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q96MU8

PeptideAtlas

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PeptideAtlasi
Q96MU8

PRoteomics IDEntifications database

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PRIDEi
Q96MU8

ProteomicsDB human proteome resource

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ProteomicsDBi
77415
77416 [Q96MU8-2]
77417 [Q96MU8-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96MU8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q96MU8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000183762 Expressed in 203 organ(s), highest expression level in islet of Langerhans

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96MU8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96MU8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA058513

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms a ternary complex with DKK1 and LRP6 (PubMed:27524201). Interacts with LRP6 in a DKK1-dependent manner. Interacts with DKK1 and RSPO1 (via FU repeats) (PubMed:17804805).2 Publications

Protein-protein interaction databases

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q96MU8

Database of interacting proteins

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DIPi
DIP-46462N

Protein interaction database and analysis system

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IntActi
Q96MU8, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000331242

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1473
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q96MU8

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96MU8

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini31 – 114KringlePROSITE-ProRule annotationAdd BLAST84
Domaini116 – 210WSCPROSITE-ProRule annotationAdd BLAST95
Domaini214 – 321CUBPROSITE-ProRule annotationAdd BLAST108

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni414 – 473Essential for apoptotic activityBy similarityAdd BLAST60

Keywords - Domaini

Kringle, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IR07 Eukaryota
ENOG41112QM LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158390

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG052290

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96MU8

Identification of Orthologs from Complete Genome Data

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OMAi
FNGRNRP

Database of Orthologous Groups

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OrthoDBi
EOG091G053O

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96MU8

TreeFam database of animal gene trees

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TreeFami
TF331319

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00041 CUB, 1 hit
cd00108 KR, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.40.20.10, 1 hit
2.60.120.290, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000859 CUB_dom
IPR017076 Kremen
IPR000001 Kringle
IPR013806 Kringle-like
IPR018056 Kringle_CS
IPR038178 Kringle_sf
IPR035914 Sperma_CUB_dom_sf
IPR002889 WSC_carb-bd

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00431 CUB, 1 hit
PF00051 Kringle, 1 hit
PF01822 WSC, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF036961 Kremen, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00042 CUB, 1 hit
SM00130 KR, 1 hit
SM00321 WSC, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49854 SSF49854, 1 hit
SSF57440 SSF57440, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01180 CUB, 1 hit
PS00021 KRINGLE_1, 1 hit
PS50070 KRINGLE_2, 1 hit
PS51212 WSC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96MU8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAPPAARLAL LSAAALTLAA RPAPSPGLGP ECFTANGADY RGTQNWTALQ
60 70 80 90 100
GGKPCLFWNE TFQHPYNTLK YPNGEGGLGE HNYCRNPDGD VSPWCYVAEH
110 120 130 140 150
EDGVYWKYCE IPACQMPGNL GCYKDHGNPP PLTGTSKTSN KLTIQTCISF
160 170 180 190 200
CRSQRFKFAG MESGYACFCG NNPDYWKYGE AASTECNSVC FGDHTQPCGG
210 220 230 240 250
DGRIILFDTL VGACGGNYSA MSSVVYSPDF PDTYATGRVC YWTIRVPGAS
260 270 280 290 300
HIHFSFPLFD IRDSADMVEL LDGYTHRVLA RFHGRSRPPL SFNVSLDFVI
310 320 330 340 350
LYFFSDRINQ AQGFAVLYQA VKEELPQERP AVNQTVAEVI TEQANLSVSA
360 370 380 390 400
ARSSKVLYVI TTSPSHPPQT VPGSNSWAPP MGAGSHRVEG WTVYGLATLL
410 420 430 440 450
ILTVTAIVAK ILLHVTFKSH RVPASGDLRD CHQPGTSGEI WSIFYKPSTS
460 470
ISIFKKKLKG QSQQDDRNPL VSD
Note: No experimental confirmation available. Exon 1 splicing donor site is not canonical.
Length:473
Mass (Da):51,744
Last modified:July 22, 2008 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF6D30DDE708C186B
GO
Isoform 2 (identifier: Q96MU8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-31: E → GPE
     471-473: VSD → AIQDSEVTSLIWSQGQPRSI

Note: No experimental confirmation available.
Show »
Length:492
Mass (Da):53,795
Checksum:iBCCDBC62C07AFF56
GO
Isoform 3 (identifier: Q96MU8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-31: E → GPE
     373-389: Missing.

Note: No experimental confirmation available.
Show »
Length:458
Mass (Da):50,177
Checksum:i8A56506A033E1D4C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BZ87H7BZ87_HUMAN
Kremen protein 1
KREMEN1
82Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti204I → V in BAB71180 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078807207F → S in ECTD13. 1 PublicationCorresponds to variant dbSNP:rs1057524917Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_03491431E → GPE in isoform 2 and isoform 3. 2 Publications1
Alternative sequenceiVSP_015698373 – 389Missing in isoform 3. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_003900471 – 473VSD → AIQDSEVTSLIWSQGQPRSI in isoform 2. 1 Publication3

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB059618 mRNA Translation: BAB40969.1
AK056425 mRNA Translation: BAB71180.1
AL021393 Genomic DNA No translation available.
Z95116 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW59774.1
BC063787 mRNA Translation: AAH63787.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS13849.1 [Q96MU8-2]
CCDS43000.2 [Q96MU8-3]

NCBI Reference Sequences

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RefSeqi
NP_001034659.2, NM_001039570.2 [Q96MU8-3]
NP_114434.3, NM_032045.4 [Q96MU8-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.229335

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000327813; ENSP00000331242; ENSG00000183762 [Q96MU8-2]
ENST00000400335; ENSP00000383189; ENSG00000183762 [Q96MU8-3]
ENST00000407188; ENSP00000385431; ENSG00000183762 [Q96MU8-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
83999

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:83999

UCSC genome browser

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UCSCi
uc003ael.3 human [Q96MU8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB059618 mRNA Translation: BAB40969.1
AK056425 mRNA Translation: BAB71180.1
AL021393 Genomic DNA No translation available.
Z95116 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW59774.1
BC063787 mRNA Translation: AAH63787.1
CCDSiCCDS13849.1 [Q96MU8-2]
CCDS43000.2 [Q96MU8-3]
RefSeqiNP_001034659.2, NM_001039570.2 [Q96MU8-3]
NP_114434.3, NM_032045.4 [Q96MU8-2]
UniGeneiHs.229335

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5FWSX-ray1.90A29-373[»]
5FWTX-ray2.10A29-373[»]
5FWUX-ray2.80A29-373[»]
5FWVX-ray3.20A29-373[»]
5FWWX-ray3.50B30-322[»]
ProteinModelPortaliQ96MU8
SMRiQ96MU8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

CORUMiQ96MU8
DIPiDIP-46462N
IntActiQ96MU8, 2 interactors
STRINGi9606.ENSP00000331242

PTM databases

iPTMnetiQ96MU8
PhosphoSitePlusiQ96MU8

Polymorphism and mutation databases

BioMutaiKREMEN1
DMDMi212287927

Proteomic databases

PaxDbiQ96MU8
PeptideAtlasiQ96MU8
PRIDEiQ96MU8
ProteomicsDBi77415
77416 [Q96MU8-2]
77417 [Q96MU8-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000327813; ENSP00000331242; ENSG00000183762 [Q96MU8-2]
ENST00000400335; ENSP00000383189; ENSG00000183762 [Q96MU8-3]
ENST00000407188; ENSP00000385431; ENSG00000183762 [Q96MU8-1]
GeneIDi83999
KEGGihsa:83999
UCSCiuc003ael.3 human [Q96MU8-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
83999
DisGeNETi83999
EuPathDBiHostDB:ENSG00000183762.12

GeneCards: human genes, protein and diseases

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GeneCardsi
KREMEN1
HGNCiHGNC:17550 KREMEN1
HPAiHPA058513
MalaCardsiKREMEN1
MIMi609898 gene
617392 phenotype
neXtProtiNX_Q96MU8
OpenTargetsiENSG00000183762
PharmGKBiPA38241

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR07 Eukaryota
ENOG41112QM LUCA
GeneTreeiENSGT00940000158390
HOVERGENiHBG052290
InParanoidiQ96MU8
OMAiFNGRNRP
OrthoDBiEOG091G053O
PhylomeDBiQ96MU8
TreeFamiTF331319

Enzyme and pathway databases

ReactomeiR-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-3772470 Negative regulation of TCF-dependent signaling by WNT ligand antagonists
R-HSA-5339717 Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling
SignaLinkiQ96MU8
SIGNORiQ96MU8

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
KREMEN1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KREMEN1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
83999

Protein Ontology

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PROi
PR:Q96MU8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000183762 Expressed in 203 organ(s), highest expression level in islet of Langerhans
ExpressionAtlasiQ96MU8 baseline and differential
GenevisibleiQ96MU8 HS

Family and domain databases

CDDicd00041 CUB, 1 hit
cd00108 KR, 1 hit
Gene3Di2.40.20.10, 1 hit
2.60.120.290, 1 hit
InterProiView protein in InterPro
IPR000859 CUB_dom
IPR017076 Kremen
IPR000001 Kringle
IPR013806 Kringle-like
IPR018056 Kringle_CS
IPR038178 Kringle_sf
IPR035914 Sperma_CUB_dom_sf
IPR002889 WSC_carb-bd
PfamiView protein in Pfam
PF00431 CUB, 1 hit
PF00051 Kringle, 1 hit
PF01822 WSC, 1 hit
PIRSFiPIRSF036961 Kremen, 1 hit
SMARTiView protein in SMART
SM00042 CUB, 1 hit
SM00130 KR, 1 hit
SM00321 WSC, 1 hit
SUPFAMiSSF49854 SSF49854, 1 hit
SSF57440 SSF57440, 1 hit
PROSITEiView protein in PROSITE
PS01180 CUB, 1 hit
PS00021 KRINGLE_1, 1 hit
PS50070 KRINGLE_2, 1 hit
PS51212 WSC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKREM1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96MU8
Secondary accession number(s): B0QY46
, B0QY47, B1AJR5, Q5TIB9, Q6P3X6, Q9BY70, Q9UGS5, Q9UGU1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2002
Last sequence update: July 22, 2008
Last modified: December 5, 2018
This is version 158 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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