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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CYSTM1 Gene

protein-coding GIFtS: 37
GCID: GC05P139555

cysteine-rich transmembrane module containing 1

(Previous name: chromosome 5 open reading frame 32 )
(Previous symbol: C5orf32)

Search for CYSTM1
in

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
Cysteine-Rich Transmembrane Module Containing 1¹ ²		Cysteine-Rich And Transmembrane Domain-Containing Protein 1²
C5orf32¹ ² ³		Putative Nuclear Protein ORF1-FL49²
ORF1-FL49¹		UPF0467 Protein C5orf32²
Chromosome 5 Open Reading Frame 32¹

External Ids:	HGNC: 30239¹	Entrez Gene: 84418²	Ensembl: ENSG00000120306⁷	UniProtKB: Q9H1C7³

Export aliases for CYSTM1 gene to outside databases

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

(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_000005.9 NC_018916.1 NT_029289.11

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for CYSTM1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CYSTM1 promoter sequence

Search SABiosciences Chromatin IP Primers for CYSTM1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYSTM1

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

Entrez Gene cytogenetic band: 5q31.3 Ensembl cytogenetic band: 5q31.3 HGNC cytogenetic band: 5q31.3

CYSTM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYSTM1 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P139555: view genomic region (about GC identifiers)

Start:	139,554,227 bp from pter	End:	139,661,637 bp from pter
Size:	107,411 bases	Orientation:	plus 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: CYTM1_HUMAN, Q9H1C7 (See protein sequence)

Recommended Name: Cysteine-rich and transmembrane domain-containing protein 1

Size: 97 amino acids; 10631 Da

Subcellular location: Membrane; Single-pass membrane protein (Potential)

Secondary accessions: Q8TBA5

Explore the universe of human proteins at neXtProt for CYSTM1: NX_Q9H1C7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H1C7

CYSTM1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_115788.1

ENSEMBL proteins:

ENSP00000261811

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

CYSTM1 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

ProtoNet protein and cluster: Q9H1C7

UniProtKB/Swiss-Prot: CYTM1_HUMAN, Q9H1C7

Similarity: Belongs to the CYSTM1 family

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

Animal Models:

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In Situ Assay
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(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 CYSTM1

(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

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(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 CYSTM1 gene:

NM_032412.3

Unigene Cluster for CYSTM1:

Cysteine-rich transmembrane module containing 1

Hs.529798 [show with all ESTs]

Unigene Representative Sequence: BM462754

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000261811(uc003lfd.3) ENST00000509589 ENST00000504227 ENST00000509789(uc010jfi.3)

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Additional cDNA sequence:

AJ245877.1 AK225992.1 AK311640.1 AK312045.1 BC013643.1 BC023982.1

15 DOTS entries:

DT.95206765 DT.118278 DT.92012576 DT.100812460 DT.86847889 DT.120860595 DT.100812455 DT.120860585

DT.100682398 DT.100812457 DT.120860586 DT.120860616 DT.120860674 DT.100007987 DT.95210505

24/388 AceView cDNA sequences (see all 388):

BI829735 BX336771 BQ649574 BF437302 BI324936 AA548343 CA413542 BM919999

BM838876 BI821302 CA444248 CR615127 AI304524 AI128352 AA320196 AW117892

CF126417 CD672959 BE710168 BX956385 BU950238 BU077913 BP343055 BG033922

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for CYSTM1 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5a	·	5b	·	5c	·	5d	^	6
SP1:									-				-		-		-
SP2:									-
SP3:					-				-
SP4:
SP5:							-		-

ECgene alternative splicing isoforms for CYSTM1

(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

CYSTM1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAATGATTTC

About this image

CYSTM1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CYSTM1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYSTM1

SOURCE GeneReport for Unigene cluster: Hs.529798

SABiosciences Custom PCR Arrays for CYSTM1

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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 eukaryotes.

Orthologs for CYSTM1 gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cystm1^{1 , 5}	RIKEN cDNA 0610010O12 gene⁵ cysteine-rich transmembrane module containing 1¹	77.78(n)¹ 80.21(a)¹		18 (19.46 cM)⁵ 66060¹ NM_001081365.1¹ NP_001074834.1¹ 36345619⁵
chicken (Gallus gallus)	Aves	CYSTM1¹	chromosome 13 open reading frame, human C5orf32	71.18(n) 81.25(a)		769167 XM_001232390.2 XP_001232391.2
African clawed frog (Xenopus laevis)	Amphibia	Xl.8223²	Xenopus laevis transcribed sequence with weak similarity more	75.53(n)		48055255
zebrafish (Danio rerio)	Actinopterygii	LOC792922¹	UPF0467 protein C5orf32 homolog	63.14(n) 67.06(a)		792922 XM_001332529.3 XP_001332565.2
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G67600⁶ AT2G41420⁶ (see all 4)	proline-rich uncharacterized protein (see all 4)	27(a) 26(a) (see all 4)	possible ortholog many → 1 (see all 4)	5(26959569-26960323) 2(17266477-17268024)
rice (Oryza sativa)	Liliopsida	-- -- (see all 5)	UV-induced protein uvi15, putative, expressed (see all 5)	25(a) 24(a) (see all 5)	many → 1 possible ortholog (see all 5)	4(31034709-31035908) 7(23781112-23782902)

ENSEMBL Gene Tree for CYSTM1 (if available)
TreeFam Gene Tree for CYSTM1 (if available)

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

(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 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs184645254^1,2		--	139552850(+)	`GGGTGC/TAGTTA`	1	--	us2k¹		0	--	--	--	--
rs189149133^1,2		--	139552861(+)	`TGGACA/GTGCCT`	1	--	us2k¹		0	--	--	--	--
rs7710593^1,2	C,F,A,H	--	139552975(+)	`GAGGCG/AAACAG`	1	--	us2k¹		15		NS EA NA WA CSA	788
rs149530661^1,2	C	--	139552995(+)	`CTTCT-/CCCCCAAC`	1	--	us2k¹		0	--	--	--	--
rs72796788^1,2		--	139553093(+)	`CTTTTC/TTGTAG`	1	--	us2k¹		0	--	--	--	--
rs80095796^1,2	C,F	--	139553173(+)	`TTCAGC/TAACTC`	1	--	us2k¹		1		WA	118
rs142426841^1,2		--	139553183(+)	`CCTTCC/TCAAAC`	1	--	us2k¹		0	--	--	--	--
rs181924416^1,2		--	139553219(+)	`AATCCC/TTCCTC`	1	--	us2k¹		0	--	--	--	--
rs6874491^1,2	C,F,H	--	139553321(+)	`CTGCCA/GAACAC`	1	--	us2k¹		6		NS NA WA	910
rs150904493^1,2		--	139553462(+)	`TCTCTA/GCCTTT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CYSTM1 (139554227 - 139661637 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CYSTM1: --

SABiosciences Cancer Mutation PCR Assays

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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

(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 CYSTM1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CYSTM1)

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

CYSTM, a novel cysteine-rich transmembrane module wit h a role in stress tolerance across eukaryotes. (PubMed id 19933165)^{1, 3} Venancio T.M. and Aravind L. (2010)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (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)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)
Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)¹ Maruyama K. and Sugano S. (1994)

(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: 84418	HGNC: 30239	AceView: ORF1-FL49	Ensembl:ENSG00000120306	euGenes: HUgn84418
ECgene: CYSTM1	H-InvDB: CYSTM1

(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 CYSTM1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CYSTM1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CYSTM1 gene:
Search GeneIP for patents involving CYSTM1

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

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About This Section


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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 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

Hot genes Disease genes CYSTM1 gene at Home site.

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CYSTM1 Gene

cysteine-rich transmembrane module containing 1

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CYSTM1 Gene

cysteine-rich transmembrane module containing 1

Aliasesfor CYSTM1 gene

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