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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C1orf194 Gene

protein-coding GIFtS: 38
GCID: GC01M109648

chromosome 1 open reading frame 194

Search for C1orf194
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
Chromosome 1 Open Reading Frame 194¹ ²
Uncharacterized Protein C1orf194²

External Ids:	HGNC: 32331¹	Entrez Gene: 127003²	Ensembl: ENSG00000179902⁷	UniProtKB: Q5T5A4³

Export aliases for C1orf194 gene to outside databases

Previous GC identifers: GC01M109450 GC01M107541

(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_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C1orf194 gene promoter:
AML1a FOXF2 Pax-6 Lmo2 HNF-4alpha1 Max Sox9 Pax-4a c-Myc
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for C1orf194

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1orf194

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

Entrez Gene cytogenetic band: 1p13.3 Ensembl cytogenetic band: 1p13.3 HGNC cytogenetic band: 1p13.3

C1orf194 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf194 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M109648: view genomic region (about GC identifiers)

Start:	109,648,573 bp from pter	End:	109,656,479 bp from pter
Size:	7,907 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: CA194_HUMAN, Q5T5A4 (See protein sequence)

Recommended Name: Uncharacterized protein C1orf194

Size: 169 amino acids; 19350 Da

Secondary accessions: Q5T5A3

Alternative splicing: 2 isoforms: Q5T5A4-1 Q5T5A4-2

Explore the universe of human proteins at neXtProt for C1orf194: NX_Q5T5A4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5T5A4

C1orf194 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001116433.1

ENSEMBL proteins:

ENSP00000358964 ENSP00000435090 ENSP00000358965 ENSP00000358961 ENSP00000435947

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

C1orf194 for domains About GeneDecksing

1 InterPro domain/family:

IPR022179 DUF3695

Graphical View of Domain Structure for InterPro Entry Q5T5A4

ProtoNet protein and cluster: Q5T5A4

(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

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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 C1orf194

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/11 Interacting proteins for C1orf194 (ENSP00000358965⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C1orf112	ENSP00000286031⁴	STRING: ENSP00000286031
LCE2B	ENSP00000357769⁴	STRING: ENSP00000357769
MAGOH	ENSP00000360525⁴	STRING: ENSP00000360525
MINOS1	ENSP00000325562⁴	STRING: ENSP00000325562
NBL1	ENSP00000289749⁴	STRING: ENSP00000289749

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 C1orf194
Search CenterWatch for drugs/clinical trials and news about C1orf194 / CA194

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for C1orf194 gene:

NM_001122961.1

Unigene Cluster for C1orf194:

Chromosome 1 open reading frame 194

Hs.446962 [show with all ESTs]

Unigene Representative Sequence: BG717688

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

ENST00000369948(uc009wev.3 uc001dwp.4) ENST00000462402 ENST00000369949(uc009wew.3)

ENST00000369945 ENST00000460065 ENST00000369942

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Additional cDNA sequence:

BC127904.1 BC127905.1 BC141949.1 BC141950.1 BC150515.1

7 DOTS entries:

DT.87046617 DT.70104291 DT.121446925 DT.75179716 DT.121446923 DT.102821631 DT.91850242

24/30 AceView cDNA sequences (see all 30):

BU741182 AI922083 BF062410 AA923015 AA383487 AI652292 AI206643 AI017264

AI341999 AI671838 BU570568 BG772797 BM726900 BG717688 BU854028 BI828829

AI699502 BG199404 BG196327 BG204023 BG207693 BI462496 BG217752 BG717906

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for C1orf194 About this scheme

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

ECgene alternative splicing isoforms for C1orf194

(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

C1orf194 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTCCCACCC

About this image

C1orf194 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: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C1orf194 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C1orf194

SOURCE GeneReport for Unigene cluster: Hs.446962

SABiosciences Custom PCR Arrays for C1orf194

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In Situ
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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 animals.

Orthologs for C1orf194 gene from 3/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	1700013F07Rik^{1 , 5}	RIKEN cDNA 1700013F07 gene^{1, 5}	84.06(n)¹ 77.54(a)¹		3 (47.27 cM)⁵ 75504¹ NM_029314.1¹ NP_083590.1¹ 108534150⁵
zebrafish (Danio rerio)	Actinopterygii	si:ch211-163l21.7¹	si:ch211-163l21.7	53.99(n) 45.77(a)		567726 NM_001113610.1 NP_001107082.1
fruit fly (Drosophila melanogaster)	Insecta	CG5435⁶	--	21(a)	1 ↔ 1	2L(12429827-12430866)

ENSEMBL Gene Tree for C1orf194 (if available)
TreeFam Gene Tree for C1orf194 (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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs145735704^1,2		--	109648104(+)	`GACTGC/TTGTTG`	1	--	int¹		0	--	--	--	--
rs185371436^1,2		--	109648186(+)	`AGATGC/GGTAAT`	1	--	int¹		0	--	--	--	--
rs640106^1,2	C,A,	--	109648188(+)	`ATGGGT/CAATTT`	1	--	int¹		1		NA	2
rs111902136^1,2	C,F,	--	109648452(+)	`TGACCC/TGAGAT`	1	--	int¹		3		WA NA CSA	6
rs150611714^1,2	C,	--	109648608(+)	`TGGGCC/TGCAGT`	1	--	ut3¹		0	--	--	--	--
rs17641032^1,2	C,F,H,	--	109648794(+)	`NNNNAA/GTACAT`	1	--	int¹		16		NA NS EA	2116
rs533212^1,2	C,F,A,	--	109648870(-)	`TATAAC/GTACCT`	1	--	int¹		9		EA NA CSA WA	459
rs142913047^1,2		--	109648913(+)	`TAAATA/GTTTGT`	1	--	int¹		0	--	--	--	--
rs654458^1,2	C,F,O,A,	--	109649048(-)	`AGGATA/TTCTGT`	1	--	int¹		7		NA WA CSA	131
rs654464^1,2	C,F,A,H,	--	109649053(-)	`GATGAA/GGGATA`	1	--	int¹		16		NS EA NA CSA	2104

HapMap Linkage Disequilibrium report for C1orf194 (109648573 - 109656479 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for C1orf194
1 CNV: 4241

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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 C1orf194 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C1orf194)

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

The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)² Gregory S.G.... Bentley D.R. (2006)
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)
Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)¹ Harrington J.J.... Ducar M. (2001)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)² Bonaldo M.F.... Soares M.B. (1996)

(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: 127003	HGNC: 32331	AceView: LOC127003	Ensembl:ENSG00000179902	euGenes: HUgn127003
ECgene: C1orf194	H-InvDB: C1orf194

(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 C1orf194	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C1orf194 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C1orf194 gene:
Search GeneIP for patents involving C1orf194

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),
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C1orf194 Proteins, Antibodies, CLIAs, and ELISAs

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf194

	Browse SwitchGear 3'UTR luciferase reporter plasmids for C1orf194
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Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C1orf194

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

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C1orf194 Gene

chromosome 1 open reading frame 194

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C1orf194 Gene

chromosome 1 open reading frame 194

Aliasesfor C1orf194 gene

Summariesfor C1orf194 gene

Genomic Viewsfor C1orf194 gene

Proteinsfor C1orf194 gene

Protein Domains /Familiesfor C1orf194 gene

Functionfor C1orf194 gene

Pathways & Interactionsfor C1orf194 gene

Drugs & Compoundsfor C1orf194 gene

Transcriptsfor C1orf194 gene

Expression for C1orf194 gene

Orthologsfor C1orf194 gene

Paralogsfor C1orf194 gene

Genomic Variantsfor C1orf194 gene

Disorders / Diseasesfor C1orf194 gene

Publicationsfor C1orf194 gene

External Searches for C1orf194 gene

Genome Databases showing C1orf194 gene

Other Databases showing C1orf194 gene

Specialized Databases showing C1orf194 gene

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Aliases
for C1orf194 gene

Summaries
for C1orf194 gene

Genomic Views
for C1orf194 gene

Proteins
for C1orf194 gene

Protein Domains /
Families
for C1orf194 gene

Function
for C1orf194 gene

Pathways & Interactions
for C1orf194 gene

Drugs & Compounds
for C1orf194 gene

Transcripts
for C1orf194 gene

Expression
for C1orf194 gene

Orthologs
for C1orf194 gene

Paralogs
for C1orf194 gene

Genomic Variants
for C1orf194 gene

Disorders / Diseases
for C1orf194 gene

Publications
for C1orf194 gene

Intellectual Property
for C1orf194 gene

Products
for C1orf194 gene