Q6XPR3 (RPTN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Repetin

Gene names

Name:

RPTN

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	784 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium.
Subcellular location	Secreted › extracellular space › extracellular matrix.
Tissue specificity	Expression is scattered in the normal epidermis but strong in the acrosyringium, the inner hair root sheath and in the filiform papilli of the tongue. Ref.2
Domain	Can be divided into a N-terminal domain with significant homology to S100-like calcium-binding proteins, a central domain containing a series of short tandem repeats, and two flanking segments with low homology to the consensus sequences of the central repeats.
Post-translational modification	Potential substrate of transglutaminase. Some arginines are probably converted to citrullines by peptidylarginine deimidase.
Sequence similarities	Belongs to the S100-fused protein family. Contains 2 EF-hand domains.

Ontologies

Keywords
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Polymorphism
Domain	Repeat
Ligand	Calcium Metal-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cornified envelope Inferred from electronic annotation. Source: Compara proteinaceous extracellular matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 784	784	Repetin		PRO_0000144040
Regions
	Domain	13 – 48	36	EF-hand 1
	Domain	49 – 84	36	EF-hand 2
	Calcium binding	22 – 33	12	1; low affinity Potential
	Calcium binding	62 – 73	12	2; high affinity Potential
	Region	1 – 91	91	S-100-like By similarity
	Compositional bias	100 – 783	684	Gln-rich
Amino acid modifications
	Modified residue	460	1	Phosphoserine By similarity
	Modified residue	484	1	Phosphoserine By similarity
	Modified residue	550	1	Phosphothreonine By similarity
Natural variations
	Natural variant	320	1	S → G. Corresponds to variant rs12117644 [ dbSNP | Ensembl ].		VAR_059177

Sequences

	Sequence		Length	Mass (Da)
	Q6XPR3 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: B4B031B4778EBAA3	FASTA	784	90,731
	10 20 30 40 50 60 MAQLLNSILS VIDVFHKYAK GNGDCALLCK EELKQLLLAE FGDILQRPND PETVETILNL 70 80 90 100 110 120 LDQDRDGHID FHEYLLLVFQ LVQACYHKLD NKSHGGRTSQ QERGQEGAQD CKFPGNTGRQ 130 140 150 160 170 180 HRQRHEEERQ NSHHSQPERQ DGDSHHGQPE RQDRDSHHGQ SEKQDRDSHH SQPERQDRDS 190 200 210 220 230 240 HHNQSERQDK DFSFDQSERQ SQDSSSGKKV SHKSTSGQAK WQGHIFALNR CEKPIQDSHY 250 260 270 280 290 300 GQSERHTQQS ETLGQASHFN QTNQQKSGSY CGQSERLGQE LGCGQTDRQG QSSHYGQTDR 310 320 330 340 350 360 QDQSYHYGQT DRQGQSSHYS QTDRQGQSSH YSQPDRQGQS SHYGQMDRKG QCYHYDQTNR 370 380 390 400 410 420 QGQGSHYSQP NRQGQSSHYG QPDTQDQSSH YGQTDRQDQS SHYGQTERQG QSSHYSQMDR 430 440 450 460 470 480 QGQGSHYGQT DRQGQSSHYG QPDRQGQNSH YGQTDRQGQS SHYGQTDRQG QSSHYSQPDK 490 500 510 520 530 540 QGQSSHYGKI DRQDQSYHYG QPDGQGQSSH YGQTDRQGQS FHYGQPDRQG QSSHYSQMDR 550 560 570 580 590 600 QGQSSHYGQT DRQGQSSHYG QTDRQGQSYH YGQTDRQGQS SHYIQSQTGE IQGQNKYFQG 610 620 630 640 650 660 TEGTRKASYV EQSGRSGRLS QQTPGQEGYQ NQGQGFQSRD SQQNGHQVWE PEEDSQHHQH 670 680 690 700 710 720 KLLAQIQQER PLCHKGRDWQ SCSSEQGHRQ AQTRQSHGEG LSHWAEEEQG HQTWDRHSHE 730 740 750 760 770 780 SQEGPCGTQD RRTHKDEQNH QRRDRQTHEH EQSHQRRDRQ THEDKQNRQR RDRQTHEDEQ NHQR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human intermediate filament-associated protein family." Wu Z., Schroeder J.M. Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Skin.
[2]	"Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex." Huber M., Siegenthaler G., Mirancea N., Marenholz I., Nizetic D., Breitkreutz D., Mischke D., Hohl D. J. Invest. Dermatol. 124:998-1007(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], CALCIUM-BINDING, TISSUE SPECIFICITY.
[3]	"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].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY396742 mRNA. Translation: AAR91620.1. AY219924 Genomic DNA. Translation: AAP48705.1. AL589986 Genomic DNA. Translation: CAX15197.1.
IPI	IPI00455626.
RefSeq	NP_001116437.1. NM_001122965.1.
UniGene	Hs.376144.
3D structure databases
ProteinModelPortal	Q6XPR3.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6XPR3. 3 interactions.
STRING	9606.ENSP00000317895.
PTM databases
PhosphoSite	Q6XPR3.
Polymorphism databases
DMDM	68566036.
Proteomic databases
PaxDb	Q6XPR3.
PRIDE	Q6XPR3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000316073; ENSP00000317895; ENSG00000215853.
GeneID	126638.
KEGG	hsa:126638.
UCSC	uc001ezs.1. human.
Organism-specific databases
CTD	126638.
GeneCards	GC01M152126.
HGNC	HGNC:26809. RPTN.
HPA	HPA030485.
MIM	613259. gene.
neXtProt	NX_Q6XPR3.
PharmGKB	PA142670970.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG266503.
HOGENOM	HOG000082449.
InParanoid	Q6XPR3.
OMA	YGQSGRQ.
OrthoDB	EOG4HQDHR.
Gene expression databases
ArrayExpress	Q6XPR3.
Bgee	Q6XPR3.
CleanEx	HS_RPTN.
Genevestigator	Q6XPR3.
GermOnline	ENSG00000197915. Homo sapiens.
Family and domain databases
Gene3D	1.10.238.10. 1 hit.
InterPro	IPR011992. EF-hand-like_dom. IPR018247. EF_Hand_1_Ca_BS. IPR002048. EF_hand_dom. IPR001751. S100/CaBP-9k_CS. IPR013787. S100_Ca-bd_sub. [Graphical view]
Pfam	PF01023. S_100. 1 hit. [Graphical view]
PROSITE	PS00018. EF_HAND_1. 1 hit. PS50222. EF_HAND_2. 1 hit. PS00303. S100_CABP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	126638.
NextBio	81869.
SOURCE	Search...

Entry information

Entry name

RPTN_HUMAN

Accession

Primary (citable) accession number: Q6XPR3
Secondary accession number(s): B7ZBZ3

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 5, 2005
Last sequence update:	July 5, 2004
Last modified:	May 1, 2013
This is version 78 of the entry and version 1 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.