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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RPTN Gene

protein-coding GIFtS: 47
GCID: GC01M152126

repetin

Explore 1 disease affiliated with
RPTN via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Repetin¹
FLJ39117¹
Intermediate Filament-Associated Protein²

External Ids:	HGNC: 26809¹	Entrez Gene: 126638²	Ensembl: ENSG00000215853⁷	OMIM: 613259⁵	UniProtKB: Q6XPR3³

Export aliases for RPTN gene to outside databases

Previous GC identifers: GC01M148940 GC01M150394 GC01M123503

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RPTN_HUMAN, Q6XPR3

Function: Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds

calcium

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RPTN gene promoter:
AML1a GATA-3 POU2F1 POU2F1a GATA-1 GATA-2 Evi-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for RPTN

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPTN

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.3 Ensembl cytogenetic band: 1q21.3 HGNC cytogenetic band: 1q21.3

RPTN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPTN gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M152126: view genomic region (about GC identifiers)

Start:	152,126,071 bp from pter	End:	152,131,704 bp from pter
Size:	5,634 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RPTN_HUMAN, Q6XPR3 (See protein sequence)

Recommended Name: Repetin

Size: 784 amino acids; 90731 Da

Subcellular location: Secreted, extracellular space, extracellular matrix

Secondary accessions: B7ZBZ3

Explore the universe of human proteins at neXtProt for RPTN: NX_Q6XPR3

Post-translational modifications:

Potential substrate of transglutaminase. Some arginines are probably converted to citrullines by peptidylarginine

deimidase¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6XPR3

RPTN Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001116437.1

ENSEMBL proteins:

ENSP00000317895

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001533	cornified envelope	IEA	--
GO:0005578	proteinaceous extracellular matrix	IEA	--

RPTN for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RPTN for domains About GeneDecksing

5 InterPro domains/families:

IPR018247 EF_Hand_1_Ca_BS

IPR011992 EF-hand-like_dom

IPR002048 EF_hand_Ca-bd

IPR013787 S100_Ca-bd_sub

IPR001751 S100/CaBP-9k_CS

Graphical View of Domain Structure for InterPro Entry Q6XPR3

ProtoNet protein and cluster: Q6XPR3

1 Blocks protein family: IPB001751 Calcium-binding protein

UniProtKB/Swiss-Prot: RPTN_HUMAN, Q6XPR3

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

Similarity: Belongs to the S100-fused protein family

Similarity: Contains 2 EF-hand domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: RPTN_HUMAN, Q6XPR3

Function: Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds

calcium

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--

RPTN for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for RPTN:

Decreased Tat-dependent transc

Decreased p24 protein expressi

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RPTN

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

5/27 Interacting proteins for RPTN (Q6XPR3³ ENSP00000317895⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
OTUD4	Q01804³, ENSP00000409279⁴	I2D: score=1 STRING: ENSP00000409279
AMBRA1	Q9C0C7³	I2D: score=1
ATG3	Q9NT62³	I2D: score=1
ATG7	O95352³	I2D: score=1
C12orf44	Q9BSB4³	I2D: score=1

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RPTN

1 HMDB Compound for RPTN About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

Search CenterWatch for drugs/clinical trials and news about RPTN

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for RPTN gene (2 alternative transcripts):

NM_152364.1 NM_001122965.1

Unigene Cluster for RPTN:

Repetin

Hs.376144 [show with all ESTs]

Unigene Representative Sequence: AY396742

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000316073(uc001ezs.1)

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Additional cDNA sequence:

AK096436.1 AY396742.1 BC112216.1 BC112218.1

2 DOTS entries:

DT.75106896 DT.99998922

1 AceView cDNA sequence:

AK096436

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RPTN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAAGAGGATG

About this image

RPTN expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Early limb mesenchymal cells (ELM cells) (Primary Cell)

Bone, Cartilage, Limb

Late limb mesenchymal cells (LLM cells) (Primary Cell)

Bone, Cartilage, Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RPTN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RPTN

SOURCE GeneReport for Unigene cluster: Hs.376144

UniProtKB/Swiss-Prot: RPTN_HUMAN, Q6XPR3

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

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for RPTN gene from 1/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	TCHHL1⁶	--	14(a)	1 → many	GL343369.1(7-2795)

ENSEMBL Gene Tree for RPTN (if available)
TreeFam Gene Tree for RPTN (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RPTN gene

FLG2² FLG² CRNN² HRNR² TCHHL1²

14 SIMAP similar genes for RPTN using alignment to 3 protein entries: RPTN_HUMAN (see all proteins):

FLG S100B S100A1 S100G S100A4 S100A8

S100P S100A9 S100A11 S100A12 S100A6 S100Z

S100A2 S100A10

RPTN for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11204926^1,2	C,F,A,H,	--	152125626(+)	`CCTGTC/TATGTG`	1	--	ds500¹		11		NS EA NA	976
rs188909802^1,2		--	152125759(+)	`GGAGAC/TGTGAG`	1	--	ds500¹		0	--	--	--	--
rs139071596^1,2		--	152125785(+)	`TATGGA/GGATGT`	1	--	ds500¹		0	--	--	--	--
rs181932249^1,2		--	152125860(+)	`ACTCAC/GTAGAG`	1	--	ds500¹		0	--	--	--	--
rs186236945^1,2		--	152125923(+)	`ATTTGG/TTTTGT`	1	--	ds500¹		0	--	--	--	--
rs115166098^1,2	C,F,	--	152126061(+)	`AGGAGT/ACATGA`	1	--	ds500¹		1		WA	118
rs191477825^1,2		--	152126067(+)	`CATGAA/CAGTTA`	1	--	ds500¹		0	--	--	--	--
rs183145618^1,2		--	152126194(+)	`ATTTGC/TAAACA`	1	--	ut3¹		0	--	--	--	--
rs184998513^1,2		--	152126219(+)	`TCTCTC/TTATTT`	1	--	ut3¹		0	--	--	--	--
rs189902321^1,2		--	152126377(+)	`CTCTTA/GTAGCA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RPTN (152126071 - 152131704 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RPTN: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RPTN for disorders           About GeneDecksing

OMIM gene information: 613259    OMIM disorders: --

1 disease for RPTN:    About MalaCards

ichthyosis

Human Genome Epidemiology (HuGE) Navigator: RPTN (1 document)

Export disorders for RPTN gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RPTN gene integrated from 9 sources:
(articles sorted by number of sources associating them with RPTN)

Utopia: connect your pdf to the dynamic
world of online information

Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex. (PubMed id 15854042)^{1, 2, 3, 9} Huber M.... Hohl D. (2005)
Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)¹ Sowa M.E....Harper J.W. (2009)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)² Gregory S.G.... Bentley D.R. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)
Permeability barrier dysfunction in transgenic mice overexpressing claudin 6. (PubMed id 11923212)⁹ Turksen K. and Troy T.C. (2002)
Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants. (PubMed id 19122646)⁹ de Juanes S....Krieg P. (2009)
Effects of fibroblasts and microenvironment on epidermal regeneration and tissue function in long-term skin equivalents. (PubMed id 17292509)⁹ Boehnke K....Stark H.J. (2007)
Cornulin, a new member of the 'fused gene' family, is expressed during epidermal differentiation. (PubMed id 15854041)⁹ Contzler R.... Hohl D. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 126638	HGNC: 26809	AceView: FLJ39117	Ensembl:ENSG00000215853	euGenes: HUgn126638
ECgene: RPTN	H-InvDB: RPTN

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RPTN	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RPTN gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RPTN gene:
Search GeneIP for patents involving RPTN

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
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About This Section


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	GenScript Custom Purified and Recombinant Proteins Services for RPTN		GenScript cDNA clones with any tag delivered in your preferred vector for RPTN
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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RPTN Gene

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