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Entry version 157 (13 Nov 2019)
Sequence version 3 (14 Oct 2008)
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Protein

Protein disulfide isomerase CRELD1

Gene

CRELD1

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

Protein disulfide isomerase (By similarity). Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane (By similarity).By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<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 - Molecular functioni

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 functionIsomerase
LigandCalcium

<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:
Protein disulfide isomerase CRELD1Curated (EC:5.3.4.1By similarity)
Alternative name(s):
Cysteine-rich with EGF-like domain protein 1Curated
<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:CRELD1
Synonyms:CIRRIN
ORF Names:UNQ188/PRO214
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14630 CRELD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607170 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96HD1

<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

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 domaini30 – 362ExtracellularSequence analysisAdd BLAST333
<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>Transmembranei363 – 383HelicalSequence analysisAdd BLAST21
Topological domaini384CytoplasmicSequence analysis1
Transmembranei385 – 405HelicalSequence analysisAdd BLAST21
Topological domaini406 – 420ExtracellularSequence analysisAdd BLAST15

Keywords - Cellular componenti

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

Atrioventricular septal defect 2 (AVSD2)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.
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_023764107R → H in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs28941780EnsemblClinVar.1
Natural variantiVAR_023765162P → A in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs121912626EnsemblClinVar.1
Natural variantiVAR_023766311T → I in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs28942092EnsemblClinVar.1
Natural variantiVAR_023767329R → C in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs28942091EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
78987

MalaCards human disease database

More...
MalaCardsi
CRELD1
MIMi606217 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000163703

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

More...
Orphaneti
99066 Complete atrioventricular canal-left heart obstruction syndrome
99068 Complete atrioventricular canal-tetralogy of Fallot syndrome
99067 Complete atrioventricular canal-ventricle hypoplasia syndrome
1330 Partial atrioventricular canal

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26870

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96HD1

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CRELD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
209572751

<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 – 29Sequence analysisAdd BLAST29
<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_000004278130 – 420Protein disulfide isomerase CRELD1Add BLAST391

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 bondi46 ↔ 49Redox-activeBy similarity
<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>Glycosylationi79N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi155 ↔ 169PROSITE-ProRule annotation
Disulfide bondi163 ↔ 181PROSITE-ProRule annotation
Disulfide bondi183 ↔ 192PROSITE-ProRule annotation
Glycosylationi205N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi278 ↔ 281Redox-activeBy similarity
Disulfide bondi309 ↔ 321PROSITE-ProRule annotation
Disulfide bondi314 ↔ 330PROSITE-ProRule annotation
Disulfide bondi332 ↔ 343PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96HD1

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96HD1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96HD1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96HD1

PeptideAtlas

More...
PeptideAtlasi
Q96HD1

PRoteomics IDEntifications database

More...
PRIDEi
Q96HD1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
76734 [Q96HD1-1]
76735 [Q96HD1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96HD1

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

More...
PhosphoSitePlusi
Q96HD1

<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

Highly expressed in fetal lung, liver, kidney, adult heart, brain and skeletal muscle. Weakly expressed in placenta, fetal brain, and adult lung, liver, kidney and pancreas.1 Publication

<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

Up-regulated by inducers of the unfolded protein response (UPR), including tunicamycin and thapsigargin.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000163703 Expressed in 204 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96HD1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96HD1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA026964

<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%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
P35348-13EBI-713009,EBI-21288891

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122458, 23 interactors

Protein interaction database and analysis system

More...
IntActi
Q96HD1, 23 interactors

Molecular INTeraction database

More...
MINTi
Q96HD1

<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>Domaini153 – 193EGF-like 1PROSITE-ProRule annotationAdd BLAST41
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati208 – 256FU 1Add BLAST49
Repeati268 – 315FU 2Add BLAST48
Domaini305 – 344EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST40

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>Motifi46 – 49CXXCBy similarity4
Motifi278 – 281CXXCBy similarity4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi3 – 45Pro-richAdd BLAST43

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CRELD family.Curated

Keywords - Domaini

EGF-like domain, Redox-active center, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

Ensembl GeneTree

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GeneTreei
ENSGT00940000160255

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000004778

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96HD1

Identification of Orthologs from Complete Genome Data

More...
OMAi
QTAPCQT

Database of Orthologous Groups

More...
OrthoDBi
883628at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96HD1

TreeFam database of animal gene trees

More...
TreeFami
TF316507

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00064 FU, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR021852 DUF3456
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR006212 Furin_repeat
IPR009030 Growth_fac_rcpt_cys_sf
IPR002049 Laminin_EGF

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF11938 DUF3456, 1 hit
PF07645 EGF_CA, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 4 hits
SM00179 EGF_CA, 2 hits
SM00261 FU, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57184 SSF57184, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 2 hits
PS01187 EGF_CA, 2 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_length">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 (2+)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 2 <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
Note: Additional isoforms seem to exist.

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96HD1-1) [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
MAPWPPKGLV PAMLWGLSLF LNLPGPIWLQ PSPPPQSSPP PQPHPCHTCR
60 70 80 90 100
GLVDSFNKGL ERTIRDNFGG GNTAWEEENL SKYKDSETRL VEVLEGVCSK
110 120 130 140 150
SDFECHRLLE LSEELVESWW FHKQQEAPDL FQWLCSDSLK LCCPAGTFGP
160 170 180 190 200
SCLPCPGGTE RPCGGYGQCE GEGTRGGSGH CDCQAGYGGE ACGQCGLGYF
210 220 230 240 250
EAERNASHLV CSACFGPCAR CSGPEESNCL QCKKGWALHH LKCVDIDECG
260 270 280 290 300
TEGANCGADQ FCVNTEGSYE CRDCAKACLG CMGAGPGRCK KCSPGYQQVG
310 320 330 340 350
SKCLDVDECE TEVCPGENKQ CENTEGGYRC ICAEGYKQME GICVKEQIPE
360 370 380 390 400
SAGFFSEMTE DELVVLQQMF FGIIICALAT LAAKGDLVFT AIFIGAVAAM
410 420
TGYWLSERSD RVLEGFIKGR
Length:420
Mass (Da):45,440
Last modified:October 14, 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:iEEAAD0D143A0D35A
GO
Isoform 2 (identifier: Q96HD1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     350-420: ESAGFFSEMT...RVLEGFIKGR → GAFPILTDLT...IHSQQASSQR

Show »
Length:422
Mass (Da):45,942
Checksum:i3FC9B9BC52BE6DA1
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 are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WBY3F8WBY3_HUMAN
Protein disulfide isomerase CRELD1
CRELD1
101Annotation 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>
H7C2L3H7C2L3_HUMAN
Protein disulfide isomerase CRELD1
CRELD1
100Annotation 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 conflicti126E → G in CAB43376 (PubMed:11230166).Curated1
Sequence conflicti153L → P in CAG33661 (Ref. 5) Curated1
Sequence conflicti186G → S in BAG36806 (PubMed:14702039).Curated1
Sequence conflicti229C → R in CAG33661 (Ref. 5) Curated1
Sequence conflicti336Y → C in CAB43376 (PubMed:11230166).Curated1
Sequence conflicti348I → V in BAG36806 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04665313M → V6 PublicationsCorresponds to variant dbSNP:rs279552Ensembl.1
Natural variantiVAR_023764107R → H in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs28941780EnsemblClinVar.1
Natural variantiVAR_046654128P → R. Corresponds to variant dbSNP:rs2302787EnsemblClinVar.1
Natural variantiVAR_023765162P → A in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs121912626EnsemblClinVar.1
Natural variantiVAR_023766311T → I in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs28942092EnsemblClinVar.1
Natural variantiVAR_023767329R → C in AVSD2; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs28942091EnsemblClinVar.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_016091350 – 420ESAGF…FIKGR → GAFPILTDLTPETTRRWKLG SHPHSTYVKMKMQRDEATFP GLYGKQVAKLGSQSRQSDRG TRLIHSQQASSQR in isoform 2. 2 PublicationsAdd BLAST71

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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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
AF452623 mRNA Translation: AAM75206.1
AL050275 mRNA Translation: CAB43376.1
AY358363 mRNA Translation: AAQ88729.1
AK314113 mRNA Translation: BAG36806.1
CR457380 mRNA Translation: CAG33661.1
AC018809 Genomic DNA No translation available.
BC008720 mRNA Translation: AAH08720.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2593.1 [Q96HD1-1]
CCDS33693.1 [Q96HD1-2]

Protein sequence database of the Protein Information Resource

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PIRi
T08724

NCBI Reference Sequences

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RefSeqi
NP_001026887.1, NM_001031717.3 [Q96HD1-2]
NP_001070883.1, NM_001077415.2 [Q96HD1-1]
NP_056328.2, NM_015513.4 [Q96HD1-1]
XP_016862664.1, XM_017007175.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000326434; ENSP00000321856; ENSG00000163703 [Q96HD1-2]
ENST00000383811; ENSP00000373322; ENSG00000163703 [Q96HD1-1]
ENST00000397170; ENSP00000380355; ENSG00000163703 [Q96HD1-1]
ENST00000452070; ENSP00000393643; ENSG00000163703 [Q96HD1-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
78987

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:78987

UCSC genome browser

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UCSCi
uc003buf.4 human [Q96HD1-1]

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
AF452623 mRNA Translation: AAM75206.1
AL050275 mRNA Translation: CAB43376.1
AY358363 mRNA Translation: AAQ88729.1
AK314113 mRNA Translation: BAG36806.1
CR457380 mRNA Translation: CAG33661.1
AC018809 Genomic DNA No translation available.
BC008720 mRNA Translation: AAH08720.1
CCDSiCCDS2593.1 [Q96HD1-1]
CCDS33693.1 [Q96HD1-2]
PIRiT08724
RefSeqiNP_001026887.1, NM_001031717.3 [Q96HD1-2]
NP_001070883.1, NM_001077415.2 [Q96HD1-1]
NP_056328.2, NM_015513.4 [Q96HD1-1]
XP_016862664.1, XM_017007175.1

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi122458, 23 interactors
IntActiQ96HD1, 23 interactors
MINTiQ96HD1

PTM databases

iPTMnetiQ96HD1
PhosphoSitePlusiQ96HD1

Polymorphism and mutation databases

BioMutaiCRELD1
DMDMi209572751

Proteomic databases

EPDiQ96HD1
jPOSTiQ96HD1
MassIVEiQ96HD1
MaxQBiQ96HD1
PeptideAtlasiQ96HD1
PRIDEiQ96HD1
ProteomicsDBi76734 [Q96HD1-1]
76735 [Q96HD1-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
78987

Genome annotation databases

EnsembliENST00000326434; ENSP00000321856; ENSG00000163703 [Q96HD1-2]
ENST00000383811; ENSP00000373322; ENSG00000163703 [Q96HD1-1]
ENST00000397170; ENSP00000380355; ENSG00000163703 [Q96HD1-1]
ENST00000452070; ENSP00000393643; ENSG00000163703 [Q96HD1-1]
GeneIDi78987
KEGGihsa:78987
UCSCiuc003buf.4 human [Q96HD1-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
78987
DisGeNETi78987

GeneCards: human genes, protein and diseases

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GeneCardsi
CRELD1
HGNCiHGNC:14630 CRELD1
HPAiHPA026964
MalaCardsiCRELD1
MIMi606217 phenotype
607170 gene
neXtProtiNX_Q96HD1
OpenTargetsiENSG00000163703
Orphaneti99066 Complete atrioventricular canal-left heart obstruction syndrome
99068 Complete atrioventricular canal-tetralogy of Fallot syndrome
99067 Complete atrioventricular canal-ventricle hypoplasia syndrome
1330 Partial atrioventricular canal
PharmGKBiPA26870

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

GeneTreeiENSGT00940000160255
HOGENOMiHOG000004778
InParanoidiQ96HD1
OMAiQTAPCQT
OrthoDBi883628at2759
PhylomeDBiQ96HD1
TreeFamiTF316507

Miscellaneous databases

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

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ChiTaRSi
CRELD1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CRELD1

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

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GenomeRNAii
78987
PharosiQ96HD1

Protein Ontology

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PROi
PR:Q96HD1

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000163703 Expressed in 204 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiQ96HD1 baseline and differential
GenevisibleiQ96HD1 HS

Family and domain databases

CDDicd00064 FU, 1 hit
InterProiView protein in InterPro
IPR021852 DUF3456
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR006212 Furin_repeat
IPR009030 Growth_fac_rcpt_cys_sf
IPR002049 Laminin_EGF
PfamiView protein in Pfam
PF11938 DUF3456, 1 hit
PF07645 EGF_CA, 2 hits
SMARTiView protein in SMART
SM00181 EGF, 4 hits
SM00179 EGF_CA, 2 hits
SM00261 FU, 2 hits
SUPFAMiSSF57184 SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 2 hits
PS01187 EGF_CA, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiCREL1_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: Q96HD1
Secondary accession number(s): A8MX90
, B2RAA9, Q6I9X5, Q8NFT4, Q9Y409
<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: November 8, 2005
Last sequence update: October 14, 2008
Last modified: November 13, 2019
This is version 157 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

Complete proteome, Reference proteome

Documents

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