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Entry version 148 (17 Jun 2020)
Sequence version 2 (10 Apr 2019)
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Protein

Chordin-like protein 1

Gene

CHRDL1

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

Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation (By similarity). May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior segment eye development.By similarity2 Publications

Caution

It is uncertain whether Met-1 or Met-7 is the initiator.Curated

<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

Molecular functionDevelopmental protein
Biological processDifferentiation, Neurogenesis, Osteogenesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-201451 Signaling by BMP
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

<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%5Fand%5Ftaxonomy%5Fsection">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:
Chordin-like protein 1
Alternative name(s):
Neuralin-1
Neurogenesin-1
Ventroptin
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CHRDL1
Synonyms:NRLN1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000101938.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29861 CHRDL1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300350 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BU40

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<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

Megalocornea 1, X-linked (MGC1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as anterior megalophthalmos, since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation.
Related information in OMIM
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_068175260C → F in MGC1. 1 PublicationCorresponds to variant dbSNP:rs387906713Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
91851

MalaCards human disease database

More...
MalaCardsi
CHRDL1
MIMi309300 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000101938

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
91489 Isolated congenital megalocornea

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134933380

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9BU40 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CHRDL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
27805644

<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 – 27Sequence analysisAdd BLAST27
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000536828 – 456Chordin-like protein 1Add BLAST429

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi118N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi291N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9BU40

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

More...
PaxDbi
Q9BU40

PeptideAtlas

More...
PeptideAtlasi
Q9BU40

PRoteomics IDEntifications database

More...
PRIDEi
Q9BU40

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
12767
20381
79052 [Q9BU40-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BU40

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

More...
PhosphoSitePlusi
Q9BU40

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the developing cornea and in the eye anterior segment in addition to the retina. Differentially expressed in the fetal brain. There is high expression in cerebellum and neocortex. Expressed in retinal pericytes.2 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By hypoxia in retinal pericytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000101938 Expressed in adipose tissue and 218 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BU40 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BU40 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000101938 Low tissue specificity

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
124885, 7 interactors

Protein interaction database and analysis system

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IntActi
Q9BU40, 9 interactors

Molecular INTeraction database

More...
MINTi
Q9BU40

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000361112

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9BU40 protein

<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

3D structure databases

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

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SMRi
Q9BU40

Database of comparative protein structure models

More...
ModBasei
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%5Fand%5Fdomains%5Fsection">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>Domaini35 – 100VWFC 1PROSITE-ProRule annotationAdd BLAST66
Domaini113 – 179VWFC 2PROSITE-ProRule annotationAdd BLAST67
Domaini258 – 323VWFC 3PROSITE-ProRule annotationAdd BLAST66

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi179 – 181Cell attachment siteSequence analysis3

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IF8R Eukaryota
ENOG410YI5E LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160983

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_048288_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BU40

Identification of Orthologs from Complete Genome Data

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OMAi
LPYFKQI

Database of Orthologous Groups

More...
OrthoDBi
454087at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BU40

TreeFam database of animal gene trees

More...
TreeFami
TF106451

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001007 VWF_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00093 VWC, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00214 VWC, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01208 VWFC_1, 3 hits
PS50184 VWFC_2, 3 hits

<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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 4 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BU40-6) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MRKKWKMGGM KYIFSLLFFL LLEGGKTEQV KHSETYCMFQ DKKYRVGERW
60 70 80 90 100
HPYLEPYGLV YCVNCICSEN GNVLCSRVRC PNVHCLSPVH IPHLCCPRCP
110 120 130 140 150
DSLPPVNNKV TSKSCEYNGT TYQHGELFVA EGLFQNRQPN QCTQCSCSEG
160 170 180 190 200
NVYCGLKTCP KLTCAFPVSV PDSCCRVCRG DGELSWEHSD GDIFRQPANR
210 220 230 240 250
EARHSYHRSH YDPPPSRQAG GLSRFPGARS HRGALMDSQQ ASGTIVQIVI
260 270 280 290 300
NNKHKHGQVC VSNGKTYSHG ESWHPNLRAF GIVECVLCTC NVTKQECKKI
310 320 330 340 350
HCPNRYPCKY PQKIDGKCCK VCPGKKAKEL PGQSFDNKGY FCGEETMPVY
360 370 380 390 400
ESVFMEDGET TRKIALETER PPQVEVHVWT IRKGILQHFH IEKISKRMFE
410 420 430 440 450
ELPHFKLVTR TTLSQWKIFT EGEAQISQMC SSRVCRTELE DLVKVLYLER

SEKGHC
Length:456
Mass (Da):52,026
Last modified:April 10, 2019 - v2
<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:i345A3C739493A545
GO
Isoform 2 (identifier: Q9BU40-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-179: Missing.
     328-328: K → KE

Show »
Length:378
Mass (Da):43,516
Checksum:iEA581757BD2A66F2
GO
Isoform 3 (identifier: Q9BU40-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     100-100: P → PE
     328-328: K → KE

Show »
Length:458
Mass (Da):52,284
Checksum:i2E6FD80F2B44960F
GO
Isoform 4 (identifier: Q9BU40-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     328-328: K → KE

Show »
Length:457
Mass (Da):52,155
Checksum:iE306E04B501FE8D1
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
A0A452Q6Z9A0A452Q6Z9_HUMAN
Chordin-like protein 1
CHRDL1
450Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068175260C → F in MGC1. 1 PublicationCorresponds to variant dbSNP:rs387906713Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_060078100P → PE in isoform 3. 1
Alternative sequenceiVSP_060079101 – 179Missing in isoform 2. Add BLAST79
Alternative sequenceiVSP_060080328K → KE in isoform 2, isoform 3 and isoform 4. 1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY608914 mRNA Translation: AAU25841.1
AK293106 mRNA Translation: BAF85795.1
AK297563 mRNA Translation: BAG59955.1
AK312270 mRNA No translation available.
AL049176 Genomic DNA No translation available.
AL591489 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02656.1
CH471120 Genomic DNA Translation: EAX02657.1
BC002909 mRNA Translation: AAH02909.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14553.1 [Q9BU40-6]
CCDS48148.2 [Q9BU40-3]
CCDS48149.1 [Q9BU40-4]
CCDS48150.1 [Q9BU40-5]

NCBI Reference Sequences

More...
RefSeqi
NP_001137453.1, NM_001143981.1 [Q9BU40-4]
NP_001137454.1, NM_001143982.1 [Q9BU40-5]
NP_001137455.2, NM_001143983.2 [Q9BU40-3]
NP_660277.2, NM_145234.3 [Q9BU40-6]
XP_005262278.1, XM_005262221.1
XP_005262279.1, XM_005262222.3 [Q9BU40-5]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000372042; ENSP00000361112; ENSG00000101938 [Q9BU40-4]
ENST00000394797; ENSP00000378276; ENSG00000101938 [Q9BU40-6]
ENST00000444321; ENSP00000399739; ENSG00000101938 [Q9BU40-5]
ENST00000482160; ENSP00000418443; ENSG00000101938 [Q9BU40-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
91851

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:91851

UCSC genome browser

More...
UCSCi
uc004eou.5 human [Q9BU40-6]

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
AY608914 mRNA Translation: AAU25841.1
AK293106 mRNA Translation: BAF85795.1
AK297563 mRNA Translation: BAG59955.1
AK312270 mRNA No translation available.
AL049176 Genomic DNA No translation available.
AL591489 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02656.1
CH471120 Genomic DNA Translation: EAX02657.1
BC002909 mRNA Translation: AAH02909.2
CCDSiCCDS14553.1 [Q9BU40-6]
CCDS48148.2 [Q9BU40-3]
CCDS48149.1 [Q9BU40-4]
CCDS48150.1 [Q9BU40-5]
RefSeqiNP_001137453.1, NM_001143981.1 [Q9BU40-4]
NP_001137454.1, NM_001143982.1 [Q9BU40-5]
NP_001137455.2, NM_001143983.2 [Q9BU40-3]
NP_660277.2, NM_145234.3 [Q9BU40-6]
XP_005262278.1, XM_005262221.1
XP_005262279.1, XM_005262222.3 [Q9BU40-5]

3D structure databases

SMRiQ9BU40
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi124885, 7 interactors
IntActiQ9BU40, 9 interactors
MINTiQ9BU40
STRINGi9606.ENSP00000361112

PTM databases

iPTMnetiQ9BU40
PhosphoSitePlusiQ9BU40

Polymorphism and mutation databases

BioMutaiCHRDL1
DMDMi27805644

Proteomic databases

MassIVEiQ9BU40
PaxDbiQ9BU40
PeptideAtlasiQ9BU40
PRIDEiQ9BU40
ProteomicsDBi12767
20381
79052 [Q9BU40-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
365 257 antibodies

Genome annotation databases

EnsembliENST00000372042; ENSP00000361112; ENSG00000101938 [Q9BU40-4]
ENST00000394797; ENSP00000378276; ENSG00000101938 [Q9BU40-6]
ENST00000444321; ENSP00000399739; ENSG00000101938 [Q9BU40-5]
ENST00000482160; ENSP00000418443; ENSG00000101938 [Q9BU40-3]
GeneIDi91851
KEGGihsa:91851
UCSCiuc004eou.5 human [Q9BU40-6]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
91851
DisGeNETi91851
EuPathDBiHostDB:ENSG00000101938.14

GeneCards: human genes, protein and diseases

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GeneCardsi
CHRDL1
HGNCiHGNC:29861 CHRDL1
HPAiENSG00000101938 Low tissue specificity
MalaCardsiCHRDL1
MIMi300350 gene
309300 phenotype
neXtProtiNX_Q9BU40
OpenTargetsiENSG00000101938
Orphaneti91489 Isolated congenital megalocornea
PharmGKBiPA134933380

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF8R Eukaryota
ENOG410YI5E LUCA
GeneTreeiENSGT00940000160983
HOGENOMiCLU_048288_0_0_1
InParanoidiQ9BU40
OMAiLPYFKQI
OrthoDBi454087at2759
PhylomeDBiQ9BU40
TreeFamiTF106451

Enzyme and pathway databases

ReactomeiR-HSA-201451 Signaling by BMP
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
91851 2 hits in 408 CRISPR screens

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

More...
ChiTaRSi
CHRDL1 human

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

More...
GenomeRNAii
91851
PharosiQ9BU40 Tbio

Protein Ontology

More...
PROi
PR:Q9BU40
RNActiQ9BU40 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000101938 Expressed in adipose tissue and 218 other tissues
ExpressionAtlasiQ9BU40 baseline and differential
GenevisibleiQ9BU40 HS

Family and domain databases

InterProiView protein in InterPro
IPR001007 VWF_dom
PfamiView protein in Pfam
PF00093 VWC, 3 hits
SMARTiView protein in SMART
SM00214 VWC, 3 hits
PROSITEiView protein in PROSITE
PS01208 VWFC_1, 3 hits
PS50184 VWFC_2, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiCRDL1_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: Q9BU40
Secondary accession number(s): B1AKD0
, B4DMP3, D3DUY6, E9PGS5, Q539E4, Q9Y3H7
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: April 10, 2019
Last modified: June 17, 2020
This is version 148 of the entry and version 2 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

Reference proteome

Documents

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