Q96DB9 (FXYD5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
FXYD domain-containing ion transport regulator 5

Alternative name(s):
Dysadherin

Gene names

Name:	FXYD5
Synonyms:	DYSAD, IWU1
ORF Names:	HSPC113, UNQ2561/PRO6241

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	178 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in down-regulation of E-cadherin which results in reduced cell adhesion. Promotes metastasis. Ref.2
Subcellular location	Membrane; Single-pass type I membrane protein Potential.
Post-translational modification	Glycosylated. Ref.2
Sequence similarities	Belongs to the FXYD family.

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Molecular function	Ionic channel
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	microvillus assembly Non-traceable author statement Ref.2. Source: UniProtKB negative regulation of calcium-dependent cell-cell adhesion Non-traceable author statement Ref.2. Source: UniProtKB
Cellular component	integral to membrane Inferred from direct assay Ref.2. Source: UniProtKB
Molecular function	actin binding Inferred from direct assay Ref.2. Source: UniProtKB cadherin binding Inferred from direct assay Ref.2. Source: UniProtKB ion channel activity 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: Q96DB9-1)

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.

Isoform 2 (identifier: Q96DB9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: MSPSGRLCLL...DPETHKSTKA → MQTLSNIPCFCLHGSLLPSTDLATLS

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 21	21	Potential
	Chain	22 – 178	157	FXYD domain-containing ion transport regulator 5		PRO_0000010369
Regions
	Topological domain	22 – 145	124	Extracellular Potential
	Transmembrane	146 – 164	19	Helical; Potential
	Topological domain	165 – 178	14	Cytoplasmic Potential
Amino acid modifications
	Modified residue	112	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 97	97	MSPSG…KSTKA → MQTLSNIPCFCLHGSLLPST DLATLS in isoform 2.		VSP_001584
	Natural variant	35	1	S → A. Corresponds to variant rs1688005 [ dbSNP | Ensembl ].		VAR_012349
	Natural variant	176	1	R → H. Ref.1 Ref.2 Ref.3 Ref.5 Ref.7 Corresponds to variant rs12110 [ dbSNP | Ensembl ].		VAR_027959
Experimental info
	Sequence conflict	140 – 141	2	HT → SH in AAF29077. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 2, 2010. Version 2. Checksum: 7429C04838B75AA1	FASTA	178	19,472
	10 20 30 40 50 60 MSPSGRLCLL TIVGLILPTR GQTLKDTTSS SSADSTIMDI QVPTRAPDAV YTELQPTSPT 70 80 90 100 110 120 PTWPADETPQ PQTQTQQLEG TDGPLVTDPE THKSTKAAHP TDDTTTLSER PSPSTDVQTD 130 140 150 160 170 PQTLKPSGFH EDDPFFYDEH TLRKRGLLVA AVLFITGIII LTSGKCRQLS RLCRNRCR
	Isoform 2 [UniParc]. Checksum: 121958DF3334315C	FASTA	107	11,888
	10 20 30 40 50 60 MQTLSNIPCF CLHGSLLPST DLATLSAHPT DDTTTLSERP SPSTDVQTDP QTLKPSGFHE 70 80 90 100 DDPFFYDEHT LRKRGLLVAA VLFITGIIIL TSGKCRQLSR LCRNRCR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A cDNA from human bone marrow encoding a protein exhibiting homology to the ATP11/PLM/MAT8 family of transmembrane proteins." Omasa T., Chen Y.G., Mantalaris A., Wu J.H.D. Biochim. Biophys. Acta 1517:307-310(2001) [PubMed: 11342114] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT HIS-176. Tissue: Bone marrow.
[2]	"Dysadherin, a cancer-associated cell membrane glycoprotein, down-regulates E-cadherin and promotes metastasis." Ino Y., Gotoh M., Sakamoto M., Tsukagoshi K., Hirohashi S. Proc. Natl. Acad. Sci. U.S.A. 99:365-370(2002) [PubMed: 11756660] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, GLYCOSYLATION, VARIANT HIS-176. Tissue: Leukocyte.
[3]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed: 11042152] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT HIS-176. Tissue: Umbilical cord blood.
[4]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT HIS-176.
[6]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT HIS-176. Tissue: Pancreas.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF177940 mRNA. Translation: AAG09301.1. AB072911 mRNA. Translation: BAB83766.1. AF161462 mRNA. Translation: AAF29077.1. AY358991 mRNA. Translation: AAQ89350.1. BT007343 mRNA. Translation: AAP36007.1. AC002390 Genomic DNA. No translation available. AC020907 Genomic DNA. No translation available. BC009642 mRNA. Translation: AAH09642.1.
IPI	IPI00220419. IPI00419588.
RefSeq	NP_001158077.1. NM_001164605.1. NP_054883.3. NM_014164.5. NP_659003.1. NM_144779.2.
UniGene	Hs.333418.
3D structure databases
ProteinModelPortal	Q96DB9.
SMR	Q96DB9. Positions 133-163.
ModBase	Search...
Protein-protein interaction databases
STRING	Q96DB9.
Protein family/group databases
TCDB	1.A.27.3.1. phospholemman (PLM) family.
Polymorphism databases
DMDM	311033386.
Proteomic databases
PRIDE	Q96DB9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000342879; ENSP00000344254; ENSG00000089327. ENST00000392219; ENSP00000376053; ENSG00000089327.
GeneID	53827.
KEGG	hsa:53827.
UCSC	uc002nyg.1. human. uc002nyi.1. human.
Organism-specific databases
CTD	53827.
GeneCards	GC19P035645.
H-InvDB	HIX0015022.
HGNC	HGNC:4029. FXYD5.
HPA	HPA010817.
MIM	606669. gene.
neXtProt	NX_Q96DB9.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG15182.
GeneTree	ENSGT00410000026316.
HOVERGEN	HBG051678.
InParanoid	Q96DB9.
OMA	TWPADET.
PhylomeDB	Q96DB9.
Gene expression databases
ArrayExpress	Q96DB9.
Bgee	Q96DB9.
CleanEx	HS_FXYD5.
Genevestigator	Q96DB9.
GermOnline	ENSG00000089327. Homo sapiens.
Family and domain databases
InterPro	IPR000272. Ion-transport_regulator_FXYD. [Graphical view]
KO	K13362.
Pfam	PF02038. ATP1G1_PLM_MAT8. 1 hit. [Graphical view]
ProDom	PD005989. PD005989. 1 hit. [Graphical view] [Entries sharing at least one domain]
PROSITE	PS01310. FXYD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

FXYD5_HUMAN

Accession

Primary (citable) accession number: Q96DB9
Secondary accession number(s): B7WNZ8 , Q6UW44, Q9HC34, Q9P039

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2002
Last sequence update:	November 2, 2010
Last modified:	January 25, 2012
This is version 96 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.