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Entry version 122 (18 Sep 2019)
Sequence version 2 (11 Sep 2007)
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Protein

VWFA and cache domain-containing protein 1

Gene

CACHD1

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

Annotation score:3 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 transcript 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

May regulate voltage-dependent calcium channels.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 - Molecular functioni

<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 processCalcium transport, Ion transport, Transport
LigandCalcium

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.18.2.2 the ca(2+) channel auxiliary subunit Alpha2Delta types 1-4 (cca-Alpha2Delta) family

<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:
VWFA and cache domain-containing protein 1
Short name:
Cache domain-containing protein 1
<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:CACHD1
Synonyms:KIAA1573, VWCD1
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29314 CACHD1

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5VU97

<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 domaini36 – 1095ExtracellularSequence analysisAdd BLAST1060
<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>Transmembranei1096 – 1116HelicalSequence analysisAdd BLAST21
Topological domaini1117 – 1274CytoplasmicSequence analysisAdd BLAST158

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
57685

Open Targets

More...
OpenTargetsi
ENSG00000158966

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672211

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5VU97

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CACHD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
158563905

<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 – 35Sequence analysisAdd BLAST35
<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_000030466136 – 1274VWFA and cache domain-containing protein 1Add BLAST1239

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Glycosylationi145N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5VU97

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5VU97

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5VU97

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q5VU97

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

More...
PaxDbi
Q5VU97

PeptideAtlas

More...
PeptideAtlasi
Q5VU97

PRoteomics IDEntifications database

More...
PRIDEi
Q5VU97

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
65401 [Q5VU97-1]
65402 [Q5VU97-2]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1901

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5VU97

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

More...
PhosphoSitePlusi
Q5VU97

<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

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5VU97 baseline and differential

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA017202

<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)

More...
BioGridi
121712, 16 interactors

Protein interaction database and analysis system

More...
IntActi
Q5VU97, 13 interactors

Molecular INTeraction database

More...
MINTi
Q5VU97

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000290039

<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>Domaini228 – 443VWFAPROSITE-ProRule annotationAdd BLAST216
Domaini453 – 532Cache 1Add BLAST80
Domaini772 – 853Cache 2Add BLAST82

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 biasi943 – 982Cys-richAdd BLAST40
Compositional biasi1243 – 1260His-richAdd BLAST18

<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

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2353 Eukaryota
ENOG410XPDX LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157568

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5VU97

Database of Orthologous Groups

More...
OrthoDBi
260352at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5VU97

TreeFam database of animal gene trees

More...
TreeFami
TF315824

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.410, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029151 Sensor-like_sf
IPR013608 VWA_N
IPR002035 VWF_A
IPR036465 vWFA_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00092 VWA, 1 hit
PF08399 VWA_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103190 SSF103190, 1 hit
SSF53300 SSF53300, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50234 VWFA, 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>. 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

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

Isoform 1 (identifier: Q5VU97-1) [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
MARQPEEEET AVARARRPPL WLLCLVACWL LGAGAEADFS ILDEAQVLAS
60 70 80 90 100
QMRRLAAEEL GVVTMQRIFN SFVYTEKISN GESEVQQLAK KIREKFNRYL
110 120 130 140 150
DVVNRNKQVV EASYTAHLTS PLTAIQDCCT IPPSMMEFDG NFNTNVSRTI
160 170 180 190 200
SCDRLSTTVN SRAFNPGRDL NSVLADNLKS NPGIKWQYFS SEEGIFTVFP
210 220 230 240 250
AHKFRCKGSY EHRSRPIYVS TVRPQSKHIV VILDHGASVT DTQLQIAKDA
260 270 280 290 300
AQVILSAIDE HDKISVLTVA DTVRTCSLDQ CYKTFLSPAT SETKRKMSTF
310 320 330 340 350
VSSVKSSDSP TQHAVGFQKA FQLIRSTNNN TKFQANTDMV IIYLSAGITS
360 370 380 390 400
KDSSEEDKKA TLQVINEENS FLNNSVMILT YALMNDGVTG LKELAFLRDL
410 420 430 440 450
AEQNSGKYGV PDRMALPVIK GSMMVLNQLS NLETTVGRFY TNLPNRMIDE
460 470 480 490 500
AVFSLPFSDE MGDGLIMTVS KPCYFGNLLL GIVGVDVNLA YILEDVTYYQ
510 520 530 540 550
DSLASYTFLI DDKGYTLMHP SLTRPYLLSE PPLHTDIIHY ENIPKFELVR
560 570 580 590 600
QNILSLPLGS QIIAVPVNSS LSWHINKLRE TGKEAYNVSY AWKMVQDTSF
610 620 630 640 650
ILCIVVIQPE IPVKQLKNLN TVPSSKLLYH RLDLLGQPSA CLHFKQLATL
660 670 680 690 700
ESPTIMLSAG SFSSPYEHLS QPETKRMVEH YTAYLSDNTR LIANPGLKFS
710 720 730 740 750
VRNEVMATSH VTDEWMTQME MSSLNTYIVR RYIATPNGVL RIYPGSLMDK
760 770 780 790 800
AFDPTRRQWY LHAVANPGLI SLTGPYLDVG GAGYVVTISH TIHSSSTQLS
810 820 830 840 850
SGHTVAVMGI DFTLRYFYKV LMDLLPVCNQ DGGNKIRCFI MEDRGYLVAH
860 870 880 890 900
PTLIDPKGHA PVEQQHITHK EPLVANDILN HPNFVKKNLC NSFSDRTVQR
910 920 930 940 950
FYKFNTSLAG DLTNLVHGSH CSKYRLARIP GTNAFVGIVN ETCDSLAFCA
960 970 980 990 1000
CSMVDRLCLN CHRMEQNECE CPCECPLEVN ECTGNLTNAE NRNPSCEVHQ
1010 1020 1030 1040 1050
EPVTYTAIDP GLQDALHQCV NSRCSQRLES GDCFGVLDCE WCMVDSDGKT
1060 1070 1080 1090 1100
HLDKPYCAPQ KECFGGIVGA KSPYVDDMGA IGDEVITLNM IKSAPVGPVA
1110 1120 1130 1140 1150
GGIMGCIMVL VLAVYAYRHQ IHRRSHQHMS PLAAQEMSVR MSNLENDRDE
1160 1170 1180 1190 1200
RDDDSHEDRG IISNTRFIAA VIERHAHSPE RRRRYWGRSG TESDHGYSTM
1210 1220 1230 1240 1250
SPQEDSENPP CNNDPLSAGV DVGNHDEDLD LDTPPQTAAL LSHKFHHYRS
1260 1270
HHPTLHHSHH LQAAVTVHTV DAEC
Note: No experimental confirmation available.
Length:1,274
Mass (Da):142,290
Last modified:September 11, 2007 - 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:iC20F8657C456A755
GO
Isoform 2 (identifier: Q5VU97-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-296: Missing.

Show »
Length:978
Mass (Da):109,139
Checksum:iC4E1C78617DE3DBD
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
A0A0A0MQY7A0A0A0MQY7_HUMAN
VWFA and cache domain-containing pr...
CACHD1
1,223Annotation 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>
A0A3B3ISH2A0A3B3ISH2_HUMAN
VWFA and cache domain-containing pr...
CACHD1
1,140Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB14105 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB14860 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti1000Q → L in CAD97793 (PubMed:17974005).Curated1

Natural variant

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_035052414M → T3 PublicationsCorresponds to variant dbSNP:rs6588100Ensembl.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_0280721 – 296Missing in isoform 2. 2 PublicationsAdd BLAST296

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
AL833000 mRNA Translation: CAH56312.1
BX537603 mRNA Translation: CAD97793.1
AC099678 Genomic DNA No translation available.
AL355515 Genomic DNA No translation available.
AL590405 Genomic DNA No translation available.
BC039301 mRNA Translation: AAH39301.1
AB046793 mRNA Translation: BAB13399.1
AK022571 mRNA Translation: BAB14105.1 Different initiation.
AK024256 mRNA Translation: BAB14860.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS628.2 [Q5VU97-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001280203.1, NM_001293274.1 [Q5VU97-2]
NP_065976.2, NM_020925.2 [Q5VU97-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000651257; ENSP00000498498; ENSG00000158966 [Q5VU97-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
57685

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57685

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AL833000 mRNA Translation: CAH56312.1
BX537603 mRNA Translation: CAD97793.1
AC099678 Genomic DNA No translation available.
AL355515 Genomic DNA No translation available.
AL590405 Genomic DNA No translation available.
BC039301 mRNA Translation: AAH39301.1
AB046793 mRNA Translation: BAB13399.1
AK022571 mRNA Translation: BAB14105.1 Different initiation.
AK024256 mRNA Translation: BAB14860.1 Different initiation.
CCDSiCCDS628.2 [Q5VU97-1]
RefSeqiNP_001280203.1, NM_001293274.1 [Q5VU97-2]
NP_065976.2, NM_020925.2 [Q5VU97-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi121712, 16 interactors
IntActiQ5VU97, 13 interactors
MINTiQ5VU97
STRINGi9606.ENSP00000290039

Protein family/group databases

TCDBi8.A.18.2.2 the ca(2+) channel auxiliary subunit Alpha2Delta types 1-4 (cca-Alpha2Delta) family

PTM databases

GlyConnecti1901
iPTMnetiQ5VU97
PhosphoSitePlusiQ5VU97

Polymorphism and mutation databases

BioMutaiCACHD1
DMDMi158563905

Proteomic databases

EPDiQ5VU97
jPOSTiQ5VU97
MassIVEiQ5VU97
MaxQBiQ5VU97
PaxDbiQ5VU97
PeptideAtlasiQ5VU97
PRIDEiQ5VU97
ProteomicsDBi65401 [Q5VU97-1]
65402 [Q5VU97-2]

Genome annotation databases

EnsembliENST00000651257; ENSP00000498498; ENSG00000158966 [Q5VU97-1]
GeneIDi57685
KEGGihsa:57685

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57685
DisGeNETi57685

GeneCards: human genes, protein and diseases

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GeneCardsi
CACHD1
HGNCiHGNC:29314 CACHD1
HPAiHPA017202
neXtProtiNX_Q5VU97
OpenTargetsiENSG00000158966
PharmGKBiPA142672211

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2353 Eukaryota
ENOG410XPDX LUCA
GeneTreeiENSGT00940000157568
InParanoidiQ5VU97
OrthoDBi260352at2759
PhylomeDBiQ5VU97
TreeFamiTF315824

Miscellaneous databases

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

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ChiTaRSi
CACHD1 human

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

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GenomeRNAii
57685
PharosiQ5VU97

Protein Ontology

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PROi
PR:Q5VU97

Gene expression databases

ExpressionAtlasiQ5VU97 baseline and differential

Family and domain databases

Gene3Di3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR029151 Sensor-like_sf
IPR013608 VWA_N
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF00092 VWA, 1 hit
PF08399 VWA_N, 1 hit
SUPFAMiSSF103190 SSF103190, 1 hit
SSF53300 SSF53300, 1 hit
PROSITEiView protein in PROSITE
PS50234 VWFA, 1 hit

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 nameiCAHD1_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: Q5VU97
Secondary accession number(s): Q49AE9
, Q658T4, Q7Z3P2, Q9H7W4, Q9H9W3, Q9HCJ9
<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: September 11, 2007
Last sequence update: September 11, 2007
Last modified: September 18, 2019
This is version 122 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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