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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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini36 – 10951060ExtracellularSequence analysisAdd
BLAST
Transmembranei1096 – 111621HelicalSequence analysisAdd
BLAST
Topological domaini1117 – 1274158CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672211.

Polymorphism and mutation databases

BioMutaiCACHD1.
DMDMi158563905.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3535Sequence analysisAdd
BLAST
Chaini36 – 12741239VWFA and cache domain-containing protein 1PRO_0000304661Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi145 – 1451N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ5VU97.
MaxQBiQ5VU97.
PaxDbiQ5VU97.
PeptideAtlasiQ5VU97.
PRIDEiQ5VU97.

PTM databases

iPTMnetiQ5VU97.
PhosphoSiteiQ5VU97.

Expressioni

Gene expression databases

BgeeiQ5VU97.
CleanExiHS_CACHD1.

Organism-specific databases

HPAiHPA017202.

Interactioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ5VU97.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini228 – 443216VWFAPROSITE-ProRule annotationAdd
BLAST
Domaini453 – 53280Cache 1Add
BLAST
Domaini772 – 85382Cache 2Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi943 – 98240Cys-richAdd
BLAST
Compositional biasi1243 – 126018His-richAdd
BLAST

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.
OrthoDBiEOG7FFMQS.
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 BAB14105.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAB14860.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAH70309.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAI22137.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1000 – 10001Q → L in CAD97793 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti414 – 4141M → T.3 Publications
Corresponds to variant rs6588100 [ dbSNP | Ensembl ].
VAR_035052

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 296296Missing in isoform 2. 2 PublicationsVSP_028072Add
BLAST

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 interactions.
IntActiQ5VU97. 6 interactions.
MINTiMINT-7969304.
STRINGi9606.ENSP00000290039.

PTM databases

iPTMnetiQ5VU97.
PhosphoSiteiQ5VU97.

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

Phylogenomic databases

eggNOGiKOG2353. Eukaryota.
ENOG410XPDX. LUCA.
HOVERGENiHBG059120.
InParanoidiQ5VU97.
OrthoDBiEOG7FFMQS.
PhylomeDBiQ5VU97.
TreeFamiTF315824.

Miscellaneous databases

GenomeRNAii57685.
PROiQ5VU97.

Gene expression databases

BgeeiQ5VU97.
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...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT THR-414.
    Tissue: Fetal kidney and Stomach.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT THR-414.
    Tissue: Testis.
  4. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
    DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 90-1274 (ISOFORM 1), VARIANT THR-414.
    Tissue: Brain.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 542-1274.
    Tissue: Teratocarcinoma.

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: July 6, 2016
This is version 99 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.