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Protein

VWFA and cache domain-containing protein 1

Gene

CACHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

May regulate voltage-dependent calcium channels.By similarity

GO - Molecular functioni

  • voltage-gated calcium channel activity Source: GO_Central

Keywordsi

Biological processCalcium transport, Ion transport, Transport
LigandCalcium

Names & Taxonomyi

Protein namesi
Recommended name:
VWFA and cache domain-containing protein 1
Short name:
Cache domain-containing protein 1
Gene namesi
Name:CACHD1
Synonyms:KIAA1573, VWCD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:29314 CACHD1
neXtProtiNX_Q5VU97

Subcellular locationi

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini36 – 1095ExtracellularSequence analysisAdd BLAST1060
Transmembranei1096 – 1116HelicalSequence analysisAdd BLAST21
Topological domaini1117 – 1274CytoplasmicSequence analysisAdd BLAST158

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi57685
PharmGKBiPA142672211

Polymorphism and mutation databases

BioMutaiCACHD1
DMDMi158563905

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 35Sequence analysisAdd BLAST35
ChainiPRO_000030466136 – 1274VWFA and cache domain-containing protein 1Add BLAST1239

Amino acid modifications

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

Keywords - PTMi

Glycoprotein

Proteomic databases

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

PTM databases

GlyConnecti1901
iPTMnetiQ5VU97
PhosphoSitePlusiQ5VU97

Expressioni

Gene expression databases

CleanExiHS_CACHD1

Organism-specific databases

HPAiHPA017202

Interactioni

Protein-protein interaction databases

BioGridi121712, 14 interactors
IntActiQ5VU97, 6 interactors
MINTiQ5VU97
STRINGi9606.ENSP00000290039

Structurei

3D structure databases

ProteinModelPortaliQ5VU97
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini228 – 443VWFAPROSITE-ProRule annotationAdd BLAST216
Domaini453 – 532Cache 1Add BLAST80
Domaini772 – 853Cache 2Add BLAST82

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi943 – 982Cys-richAdd BLAST40
Compositional biasi1243 – 1260His-richAdd BLAST18

Sequence similaritiesi

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2353 Eukaryota
ENOG410XPDX LUCA
HOVERGENiHBG059120
InParanoidiQ5VU97
PhylomeDBiQ5VU97
TreeFamiTF315824

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

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5VU97-1) [UniParc]FASTAAdd to basket

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

« Hide
        10         20         30         40         50
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
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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform 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:

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035052414M → T3 PublicationsCorresponds to variant dbSNP:rs6588100Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0280721 – 296Missing in isoform 2. 2 PublicationsAdd BLAST296

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]
UniGeneiHs.443891

Genome annotation databases

EnsembliENST00000371073; ENSP00000360113; ENSG00000158966
GeneIDi57685
KEGGihsa:57685

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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]
UniGeneiHs.443891

3D structure databases

ProteinModelPortaliQ5VU97
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121712, 14 interactors
IntActiQ5VU97, 6 interactors
MINTiQ5VU97
STRINGi9606.ENSP00000290039

PTM databases

GlyConnecti1901
iPTMnetiQ5VU97
PhosphoSitePlusiQ5VU97

Polymorphism and mutation databases

BioMutaiCACHD1
DMDMi158563905

Proteomic databases

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

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371073; ENSP00000360113; ENSG00000158966
GeneIDi57685
KEGGihsa:57685

Organism-specific databases

CTDi57685
DisGeNETi57685
GeneCardsiCACHD1
H-InvDBiHIX0000668
HGNCiHGNC:29314 CACHD1
HPAiHPA017202
neXtProtiNX_Q5VU97
PharmGKBiPA142672211
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2353 Eukaryota
ENOG410XPDX LUCA
HOVERGENiHBG059120
InParanoidiQ5VU97
PhylomeDBiQ5VU97
TreeFamiTF315824

Miscellaneous databases

ChiTaRSiCACHD1 human
GenomeRNAii57685
PROiPR:Q5VU97

Gene expression databases

CleanExiHS_CACHD1

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
ProtoNetiSearch...

Entry informationi

Entry nameiCAHD1_HUMAN
AccessioniPrimary (citable) accession number: Q5VU97
Secondary accession number(s): Q49AE9
, Q658T4, Q7Z3P2, Q9H7W4, Q9H9W3, Q9HCJ9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 11, 2007
Last modified: November 7, 2018
This is version 114 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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