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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-Experimental evidence at transcript leveli

Functioni

May regulate voltage-dependent calcium channels.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium

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.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

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...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ5VU97.
MaxQBiQ5VU97.
PaxDbiQ5VU97.
PeptideAtlasiQ5VU97.
PRIDEiQ5VU97.

PTM databases

iPTMnetiQ5VU97.
PhosphoSitePlusiQ5VU97.

Expressioni

Gene expression databases

BgeeiENSG00000158966.
CleanExiHS_CACHD1.

Organism-specific databases

HPAiHPA017202.

Interactioni

Protein-protein interaction databases

BioGridi121712. 11 interactors.
IntActiQ5VU97. 6 interactors.
MINTiMINT-7969304.
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

Contains 2 cache domains.Curated
Contains 1 VWFA domain.PROSITE-ProRule annotation

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. 2 hits.
InterProiIPR029151. Sensor-like.
IPR013608. VWA_N.
IPR002035. VWF_A.
[Graphical view]
PfamiPF00092. VWA. 1 hit.
PF08399. VWA_N. 1 hit.
[Graphical view]
SUPFAMiSSF103190. SSF103190. 1 hit.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50234. VWFA. 1 hit.
[Graphical view]

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

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

Sequence cautioni

The sequence BAB14105 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB14860 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH70309 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI22137 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 → T.3 PublicationsCorresponds to variant rs6588100dbSNPEnsembl.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.
AL590405, AC099678, AL355515 Genomic DNA. Translation: CAH70309.1. Different initiation.
AL355515, AC099678, AL590405 Genomic DNA. Translation: CAI22137.1. Different initiation.
BC039301 mRNA. Translation: AAH39301.1.
AB046793 mRNA. Translation: BAB13399.1.
AK022571 mRNA. Translation: BAB14105.1. Different initiation.
AK024256 mRNA. Translation: BAB14860.1. Different initiation.
RefSeqiNP_001280203.1. NM_001293274.1. [Q5VU97-2]
NP_065976.2. NM_020925.2.
UniGeneiHs.443891.

Genome annotation databases

EnsembliENST00000371073; ENSP00000360113; ENSG00000158966.
GeneIDi57685.
KEGGihsa:57685.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL833000 mRNA. Translation: CAH56312.1.
BX537603 mRNA. Translation: CAD97793.1.
AL590405, AC099678, AL355515 Genomic DNA. Translation: CAH70309.1. Different initiation.
AL355515, AC099678, AL590405 Genomic DNA. Translation: CAI22137.1. Different initiation.
BC039301 mRNA. Translation: AAH39301.1.
AB046793 mRNA. Translation: BAB13399.1.
AK022571 mRNA. Translation: BAB14105.1. Different initiation.
AK024256 mRNA. Translation: BAB14860.1. Different initiation.
RefSeqiNP_001280203.1. NM_001293274.1. [Q5VU97-2]
NP_065976.2. NM_020925.2.
UniGeneiHs.443891.

3D structure databases

ProteinModelPortaliQ5VU97.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121712. 11 interactors.
IntActiQ5VU97. 6 interactors.
MINTiMINT-7969304.
STRINGi9606.ENSP00000290039.

PTM databases

iPTMnetiQ5VU97.
PhosphoSitePlusiQ5VU97.

Polymorphism and mutation databases

BioMutaiCACHD1.
DMDMi158563905.

Proteomic databases

EPDiQ5VU97.
MaxQBiQ5VU97.
PaxDbiQ5VU97.
PeptideAtlasiQ5VU97.
PRIDEiQ5VU97.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371073; ENSP00000360113; ENSG00000158966.
GeneIDi57685.
KEGGihsa:57685.

Organism-specific databases

CTDi57685.
DisGeNETi57685.
GeneCardsiCACHD1.
H-InvDBHIX0000668.
HGNCiHGNC:29314. CACHD1.
HPAiHPA017202.
neXtProtiNX_Q5VU97.
PharmGKBiPA142672211.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2353. Eukaryota.
ENOG410XPDX. LUCA.
HOVERGENiHBG059120.
InParanoidiQ5VU97.
PhylomeDBiQ5VU97.
TreeFamiTF315824.

Miscellaneous databases

GenomeRNAii57685.
PROiQ5VU97.

Gene expression databases

BgeeiENSG00000158966.
CleanExiHS_CACHD1.

Family and domain databases

Gene3Di3.40.50.410. 2 hits.
InterProiIPR029151. Sensor-like.
IPR013608. VWA_N.
IPR002035. VWF_A.
[Graphical view]
PfamiPF00092. VWA. 1 hit.
PF08399. VWA_N. 1 hit.
[Graphical view]
SUPFAMiSSF103190. SSF103190. 1 hit.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50234. VWFA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCAHD1_HUMAN
AccessioniPrimary (citable) accession number: Q5VU97
Secondary accession number(s): Q49AE9
, Q658T4, Q7Z3P2, Q9H7W4, Q9H9W3, Q9HCJ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 11, 2007
Last modified: November 2, 2016
This is version 102 of the entry and version 2 of the sequence. [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. 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.