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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FAM189A1 Gene

protein-coding GIFtS: 39
GCID: GC15M029412

family with sequence similarity 189, member A1

Search for FAM189A1
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
Family With Sequence Similarity 189, Member A1¹ ²
TMEM228¹ ² ³
KIAA0574¹ ³
Transmembrane Protein 228² ³
Protein FAM189A1²

External Ids:	HGNC: 29075¹	Entrez Gene: 23359²	Ensembl: ENSG00000104059⁷	UniProtKB: O60320³

Export aliases for FAM189A1 gene to outside databases

Previous GC identifer: GC15M007069

(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_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for FAM189A1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for FAM189A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM189A1

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

Entrez Gene cytogenetic band: 15q13.1 Ensembl cytogenetic band: 15q13.1 HGNC cytogenetic band: 15q12

FAM189A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM189A1 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M029412: view genomic region (about GC identifiers)

Start:	29,412,455 bp from pter	End:	29,862,927 bp from pter
Size:	450,473 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: F1891_HUMAN, O60320 (See protein sequence)

Recommended Name: Protein FAM189A1

Size: 539 amino acids; 56544 Da

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

Sequence caution: Sequence=BC127817; Type=Frameshift; Positions=177; Sequence=BG752856; Type=Frameshift;

Positions=Several;

Secondary accessions: A0PK09

Alternative splicing: 2 isoforms: O60320-1 O60320-2

Explore the universe of human proteins at neXtProt for FAM189A1: NX_O60320

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O60320

FAM189A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_056122.1

ENSEMBL proteins:

ENSP00000261275 ENSP00000452860

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	Uscn Proteins for FAM189A1

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	--

FAM189A1 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

FAM189A1 for domains About GeneDecksing

1 InterPro domain/family:

IPR007237 CD20-like

Graphical View of Domain Structure for InterPro Entry O60320

ProtoNet protein and cluster: O60320

UniProtKB/Swiss-Prot: F1891_HUMAN, O60320

Similarity: Belongs to the FAM189 family

(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 FAM189A1

(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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Search CenterWatch for drugs/clinical trials and news about FAM189A1 / F1891

(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 FAM189A1 gene:

NM_015307.1

Unigene Cluster for FAM189A1:

Family with sequence similarity 189, member A1

Hs.383564 [show with all ESTs]

Unigene Representative Sequence: NM_015307

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

ENST00000261275(uc001zcn.2 uc010azk.1) ENST00000560021 ENST00000560082

ENST00000560050

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Additional cDNA sequence:

AB011146.1 AK295622.1 BC127817.1

3 DOTS entries:

DT.112667 DT.121070301 DT.304846

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

FAM189A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

FAM189A1 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)

Bone

Zeugopod Epiphyseal End

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FAM189A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM189A1

SOURCE GeneReport for Unigene cluster: Hs.383564

SABiosciences Custom PCR Arrays for FAM189A1

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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 chordates.

Orthologs for FAM189A1 gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fam189a1^{1 , 5}	family with sequence similarity 189, member A1^{1, 5}	81.13(n)¹ 80.93(a)¹		7 (34.70 cM)⁵ 70638¹ NM_183087.4¹ NP_898910.2¹ 64756113⁵
chicken (Gallus gallus)	Aves	FAM189A1¹	family with sequence similarity 189, member A1	67.32(n) 66.81(a)		415387 XM_413772.3 XP_413772.3
lizard (Anolis carolinensis)	Reptilia	FAM189A1⁶	--	61(a)	1 ↔ 1	GL343644.1(271847-299379)
zebrafish (Danio rerio)	Actinopterygii	fam189a1¹	family with sequence similarity 189, member A1	59.95(n) 59.48(a)		436705 XM_003198968.1 XP_003199016.1

ENSEMBL Gene Tree for FAM189A1 (if available)
TreeFam Gene Tree for FAM189A1 (if available)

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

Paralogs for FAM189A1 gene

FAM189A2² FAM189B²

1 SIMAP similar gene for FAM189A1 using alignment to 2 protein entries: F1891_HUMAN (see all proteins):

FAM189B

FAM189A1 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 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs59230279^1,2	C,	--	7102281(+)	`ATGAG-/CCGAGG`	1	--	int¹		1		NA	2
rs111742143^1,2	C,	--	29411973(+)	`GGAAT-/GAAGA GAAAT`	1	--	int¹		1		CSA	2
rs11638181^1,2	C,F,A,H,	--	29412047(+)	`CCTGCT/CGTGCC`	1	--	int¹		24		NS EA NA WA CSA	2330
rs11634274^1,2	C,H,	--	29412064(+)	`AAGGCA/GGGGAA`	1	--	int¹		10		NA WA CSA EA	370
rs11634275^1,2	C,F,A,H,	--	29412079(+)	`GTCCCA/GGGGAG`	1	--	int¹		15		NS EA NA WA CSA	786
rs141929398^1,2		--	29412084(+)	`GGGGAA/GAGAGC`	1	--	int¹		0	--	--	--	--
rs115616433^1,2		--	29412097(+)	`TGGCTA/GGCTGA`	1	--	int¹		1		WA	118
rs11634309^1,2	C,F,A,H,	--	29412162(+)	`TTAAGA/GAAACA`	1	--	int¹		11		WA NA CSA EA	372
rs11638217^1,2	C,A,H,	--	29412169(+)	`AACATT/CTGAGC`	1	--	int¹		14		NA WA CSA EA	377
rs189021014^1,2		--	29412180(+)	`CATGGC/TCTGCA`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FAM189A1 (29412455 - 29662455 bp, first 250kb of FAM189A1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 41 variations for FAM189A1
15/38 CNVs (see all 38): 87562 4884 35301 53189 102066 102069 5774 0445 87561 87553 76880 30693 49507 35300 102068
3 Indels: 60169 102067 49509

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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

FAM189A1 for disorders About MalaCards

FAM189A1 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: FAM189A1 (4 documents)

Export disorders for FAM189A1 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 FAM189A1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM189A1)

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

Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)^{1, 2, 3} Nagase T....Ohara O. (1998)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)^{1, 2} Kimura K.... Sugano S. (2006)
Genome-wide association of implantable cardioverter-de fibrillator activation with life-threatening arrhythmias. (PubMed id 22247754)¹ Murray S.S....Topol E.J. (2012)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)¹ Bailey S.D....Anand S. (2010)
Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)
Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)² Zody M.C....Nusbaum C. (2006)
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)

(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: 23359	HGNC: 29075	Ensembl:ENSG00000104059	euGenes: HUgn23359	ECgene: FAM189A1
H-InvDB: FAM189A1

(According to HUGE)
About This Section

HUGE: KIAA0574

(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 FAM189A1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FAM189A1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FAM189A1 gene:
Search GeneIP for patents involving FAM189A1

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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About This Section


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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
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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

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

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FAM189A1 Gene

family with sequence similarity 189, member A1

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FAM189A1 Gene

family with sequence similarity 189, member A1

Aliasesfor FAM189A1 gene

Summariesfor FAM189A1 gene

Genomic Viewsfor FAM189A1 gene

Proteinsfor FAM189A1 gene

Protein Domains /Familiesfor FAM189A1 gene

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Genome Databases showing FAM189A1 gene

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Specialized Databases showing FAM189A1 gene

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Aliases
for FAM189A1 gene

Summaries
for FAM189A1 gene

Genomic Views
for FAM189A1 gene

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for FAM189A1 gene

Protein Domains /
Families
for FAM189A1 gene

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for FAM189A1 gene

Pathways & Interactions
for FAM189A1 gene

Drugs & Compounds
for FAM189A1 gene

Transcripts
for FAM189A1 gene

Expression
for FAM189A1 gene

Orthologs
for FAM189A1 gene

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for FAM189A1 gene

Genomic Variants
for FAM189A1 gene

Disorders / Diseases
for FAM189A1 gene

Publications
for FAM189A1 gene

Intellectual Property
for FAM189A1 gene

Products
for FAM189A1 gene