Q5VU97 (CAHD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
VWFA and cache domain-containing protein 1
Short name=Cache domain-containing protein 1

Gene names

Name:	CACHD1
Synonyms:	KIAA1573, VWCD1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1274 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May regulate voltage-dependent calcium channels By similarity.
Subcellular location	Membrane; Single-pass type I membrane protein Potential.
Sequence similarities	Belongs to the calcium channel subunit alpha-2/delta family. Contains 2 cache domains. Contains 1 VWFA domain.
Sequence caution	The sequence BAB14105.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB14860.1 differs from that shown. Reason: Erroneous initiation. The sequence CAH70309.1 differs from that shown. Reason: Erroneous initiation. The sequence CAI22137.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Calcium transport Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Signal Transmembrane Transmembrane helix
Ligand	Calcium
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	calcium ion transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5VU97-1)

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.

Note: No experimental confirmation available.

Isoform 2 (identifier: Q5VU97-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 35	35	Potential
	Chain	36 – 1274	1239	VWFA and cache domain-containing protein 1		PRO_0000304661
Regions
	Topological domain	36 – 1095	1060	Extracellular Potential
	Transmembrane	1096 – 1116	21	Helical; Potential
	Topological domain	1117 – 1274	158	Cytoplasmic Potential
	Domain	228 – 443	216	VWFA
	Domain	453 – 532	80	Cache 1
	Domain	772 – 853	82	Cache 2
	Compositional bias	943 – 982	40	Cys-rich
	Compositional bias	1243 – 1260	18	His-rich
Amino acid modifications
	Glycosylation	145	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 296	296	Missing in isoform 2.		VSP_028072
	Natural variant	414	1	M → T. Ref.1 Ref.3 Ref.4 Corresponds to variant rs6588100 [ dbSNP | Ensembl ].		VAR_035052
Experimental info
	Sequence conflict	1000	1	Q → L in CAD97793. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 11, 2007. Version 2. Checksum: C20F8657C456A755	FASTA	1,274	142,290
	10 20 30 40 50 60 MARQPEEEET AVARARRPPL WLLCLVACWL LGAGAEADFS ILDEAQVLAS QMRRLAAEEL 70 80 90 100 110 120 GVVTMQRIFN SFVYTEKISN GESEVQQLAK KIREKFNRYL DVVNRNKQVV EASYTAHLTS 130 140 150 160 170 180 PLTAIQDCCT IPPSMMEFDG NFNTNVSRTI SCDRLSTTVN SRAFNPGRDL NSVLADNLKS 190 200 210 220 230 240 NPGIKWQYFS SEEGIFTVFP AHKFRCKGSY EHRSRPIYVS TVRPQSKHIV VILDHGASVT 250 260 270 280 290 300 DTQLQIAKDA AQVILSAIDE HDKISVLTVA DTVRTCSLDQ CYKTFLSPAT SETKRKMSTF 310 320 330 340 350 360 VSSVKSSDSP TQHAVGFQKA FQLIRSTNNN TKFQANTDMV IIYLSAGITS KDSSEEDKKA 370 380 390 400 410 420 TLQVINEENS FLNNSVMILT YALMNDGVTG LKELAFLRDL AEQNSGKYGV PDRMALPVIK 430 440 450 460 470 480 GSMMVLNQLS NLETTVGRFY TNLPNRMIDE AVFSLPFSDE MGDGLIMTVS KPCYFGNLLL 490 500 510 520 530 540 GIVGVDVNLA YILEDVTYYQ DSLASYTFLI DDKGYTLMHP SLTRPYLLSE PPLHTDIIHY 550 560 570 580 590 600 ENIPKFELVR QNILSLPLGS QIIAVPVNSS LSWHINKLRE TGKEAYNVSY AWKMVQDTSF 610 620 630 640 650 660 ILCIVVIQPE IPVKQLKNLN TVPSSKLLYH RLDLLGQPSA CLHFKQLATL ESPTIMLSAG 670 680 690 700 710 720 SFSSPYEHLS QPETKRMVEH YTAYLSDNTR LIANPGLKFS VRNEVMATSH VTDEWMTQME 730 740 750 760 770 780 MSSLNTYIVR RYIATPNGVL RIYPGSLMDK AFDPTRRQWY LHAVANPGLI SLTGPYLDVG 790 800 810 820 830 840 GAGYVVTISH TIHSSSTQLS SGHTVAVMGI DFTLRYFYKV LMDLLPVCNQ DGGNKIRCFI 850 860 870 880 890 900 MEDRGYLVAH PTLIDPKGHA PVEQQHITHK EPLVANDILN HPNFVKKNLC NSFSDRTVQR 910 920 930 940 950 960 FYKFNTSLAG DLTNLVHGSH CSKYRLARIP GTNAFVGIVN ETCDSLAFCA CSMVDRLCLN 970 980 990 1000 1010 1020 CHRMEQNECE CPCECPLEVN ECTGNLTNAE NRNPSCEVHQ EPVTYTAIDP GLQDALHQCV 1030 1040 1050 1060 1070 1080 NSRCSQRLES GDCFGVLDCE WCMVDSDGKT HLDKPYCAPQ KECFGGIVGA KSPYVDDMGA 1090 1100 1110 1120 1130 1140 IGDEVITLNM IKSAPVGPVA GGIMGCIMVL VLAVYAYRHQ IHRRSHQHMS PLAAQEMSVR 1150 1160 1170 1180 1190 1200 MSNLENDRDE RDDDSHEDRG IISNTRFIAA VIERHAHSPE RRRRYWGRSG TESDHGYSTM 1210 1220 1230 1240 1250 1260 SPQEDSENPP CNNDPLSAGV DVGNHDEDLD LDTPPQTAAL LSHKFHHYRS HHPTLHHSHH 1270 LQAAVTVHTV DAEC
	Isoform 2 [UniParc]. Checksum: C4E1C78617DE3DBD	FASTA	978	109,139
	10 20 30 40 50 60 MSTFVSSVKS SDSPTQHAVG FQKAFQLIRS TNNNTKFQAN TDMVIIYLSA GITSKDSSEE 70 80 90 100 110 120 DKKATLQVIN EENSFLNNSV MILTYALMND GVTGLKELAF LRDLAEQNSG KYGVPDRMAL 130 140 150 160 170 180 PVIKGSMMVL NQLSNLETTV GRFYTNLPNR MIDEAVFSLP FSDEMGDGLI MTVSKPCYFG 190 200 210 220 230 240 NLLLGIVGVD VNLAYILEDV TYYQDSLASY TFLIDDKGYT LMHPSLTRPY LLSEPPLHTD 250 260 270 280 290 300 IIHYENIPKF ELVRQNILSL PLGSQIIAVP VNSSLSWHIN KLRETGKEAY NVSYAWKMVQ 310 320 330 340 350 360 DTSFILCIVV IQPEIPVKQL KNLNTVPSSK LLYHRLDLLG QPSACLHFKQ LATLESPTIM 370 380 390 400 410 420 LSAGSFSSPY EHLSQPETKR MVEHYTAYLS DNTRLIANPG LKFSVRNEVM ATSHVTDEWM 430 440 450 460 470 480 TQMEMSSLNT YIVRRYIATP NGVLRIYPGS LMDKAFDPTR RQWYLHAVAN PGLISLTGPY 490 500 510 520 530 540 LDVGGAGYVV TISHTIHSSS TQLSSGHTVA VMGIDFTLRY FYKVLMDLLP VCNQDGGNKI 550 560 570 580 590 600 RCFIMEDRGY LVAHPTLIDP KGHAPVEQQH ITHKEPLVAN DILNHPNFVK KNLCNSFSDR 610 620 630 640 650 660 TVQRFYKFNT SLAGDLTNLV HGSHCSKYRL ARIPGTNAFV GIVNETCDSL AFCACSMVDR 670 680 690 700 710 720 LCLNCHRMEQ NECECPCECP LEVNECTGNL TNAENRNPSC EVHQEPVTYT AIDPGLQDAL 730 740 750 760 770 780 HQCVNSRCSQ RLESGDCFGV LDCEWCMVDS DGKTHLDKPY CAPQKECFGG IVGAKSPYVD 790 800 810 820 830 840 DMGAIGDEVI TLNMIKSAPV GPVAGGIMGC IMVLVLAVYA YRHQIHRRSH QHMSPLAAQE 850 860 870 880 890 900 MSVRMSNLEN DRDERDDDSH EDRGIISNTR FIAAVIERHA HSPERRRRYW GRSGTESDHG 910 920 930 940 950 960 YSTMSPQEDS ENPPCNNDPL SAGVDVGNHD EDLDLDTPPQ TAALLSHKFH HYRSHHPTLH 970 HSHHLQAAVT VHTVDAEC

References

[1]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] 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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00289083. IPI00396062.
RefSeq	NP_065976.2. NM_020925.2.
UniGene	Hs.443891.
3D structure databases
ProteinModelPortal	Q5VU97.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q5VU97. 4 interactions.
STRING	9606.ENSP00000290039.
PTM databases
PhosphoSite	Q5VU97.
Polymorphism databases
DMDM	158563905.
Proteomic databases
PaxDb	Q5VU97.
PRIDE	Q5VU97.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000290039; ENSP00000290039; ENSG00000158966. ENST00000371073; ENSP00000360113; ENSG00000158966.
GeneID	57685.
KEGG	hsa:57685.
UCSC	uc001dbo.1. human.
Organism-specific databases
CTD	57685.
GeneCards	GC01P064936.
H-InvDB	HIX0000668.
HGNC	HGNC:29314. CACHD1.
HPA	HPA017202.
neXtProt	NX_Q5VU97.
PharmGKB	PA142672211.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG264510.
HOVERGEN	HBG059120.
InParanoid	Q5VU97.
OMA	SGTESDH.
Gene expression databases
Bgee	Q5VU97.
CleanEx	HS_CACHD1.
Genevestigator	Q5VU97.
Family and domain databases
InterPro	IPR004010. Cache_domain. IPR013608. VWA_N. IPR002035. VWF_A. [Graphical view]
Pfam	PF02743. Cache_1. 2 hits. PF08399. VWA_N. 1 hit. [Graphical view]
SMART	SM00327. VWA. 1 hit. [Graphical view]
PROSITE	PS50234. VWFA. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57685.
NextBio	64510.

Entry information

Entry name

CAHD1_HUMAN

Accession

Primary (citable) accession number: Q5VU97
Secondary accession number(s): Q49AE9 , Q658T4, Q7Z3P2, Q9H7W4, Q9H9W3, Q9HCJ9

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	September 11, 2007
Last modified:	April 3, 2013
This is version 73 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.