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UBALD1 Gene

protein-coding GIFtS: 34
GCID: GC16M004656

UBA-Like Domain Containing 1

(Previous names: family with sequence similarity 100, member A)
(Previous symbol: FAM100A)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
UBA-Like Domain Containing 1¹ ²
FAM100A¹ ² ³
Family With Sequence Similarity 100, Member A¹ ²
Protein FAM100A²
UBA-Like Domain-Containing Protein 1²

External Ids:	HGNC: 29576¹	Entrez Gene: 124402²	Ensembl: ENSG00000153443⁷	UniProtKB: Q8TB05³

Export aliases for UBALD1 gene to outside databases

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for UBALD1 Gene:

UBALD1 (UBA-like domain containing 1) is a protein-coding gene. An important paralog of this gene is UBALD2.

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000016.9 NC_018927.2 NT_010393.17

Regulatory elements:

Search for regulatory transcription factor binding sites for UBALD1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: UBALD1 promoter sequence

Search Chromatin IP Primers for UBALD1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UBALD1

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

Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3

UBALD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBALD1 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M004656: view genomic region (about GC identifiers)

Start:	4,658,884 bp from pter	End:	4,665,028 bp from pter
Size:	6,145 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: UBAD1_HUMAN, Q8TB05 (See protein sequence)

Recommended Name: UBA-like domain-containing protein 1

Size: 177 amino acids; 18954 Da

Secondary accessions: Q71MF6

Alternative splicing: 2 isoforms: Q8TB05-1 Q8TB05-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UBALD1: NX_Q8TB05

Explore proteomics data for UBALD1 at MOPED

See UBALD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_660296.1

ENSEMBL proteins:

ENSP00000465706 ENSP00000466361 ENSP00000467671 ENSP00000283474 ENSP00000464725

ENSP00000465041 ENSP00000466404 ENSP00000465745 ENSP00000465847

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:

IPR009060 UBA-like

Graphical View of Domain Structure for InterPro Entry Q8TB05

ProtoNet protein and cluster: Q8TB05

UniProtKB/Swiss-Prot: UBAD1_HUMAN, Q8TB05

Similarity: Belongs to the UBALD family

Find genes that share domains with UBALD1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--

Find genes that share ontologies with UBALD1 About GenesLikeMe

Phenotypes:
3 GenomeRNAi human phenotypes for UBALD1:

Decreased Wnt reporter activit

Decreased viability with pacli

Increased gamma-H2AX phosphory

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for UBALD1

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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for UBALD1
Interactions:

Search GeneGlobe Interaction Network for UBALD1

5 Interacting proteins for UBALD1 (Q8TB05³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RPL9	P32969³	I2D: score=3
RPL9P7	P32969³	I2D: score=3
RPL9P8	P32969³	I2D: score=3
RPL9P9	P32969³	I2D: score=3
MED8	Q96G25³	I2D: score=3

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for UBALD1 (UBAD1)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for UBALD1 gene:

NM_145253.2

Unigene Cluster for UBALD1:

UBA-like domain containing 1

Hs.513313 [show with all ESTs]

Unigene Representative Sequence: AK123636

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

ENST00000590891 ENST00000590965 ENST00000591401 ENST00000283474(uc002cwx.2)

ENST00000591897 ENST00000588691 ENST00000587615 ENST00000587649 ENST00000591113

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Additional mRNA sequence:

AF370434.1 AK055785.1 AK056747.1 AK123636.1 BC008681.1 BC012018.1 BC025327.1 BC040160.1

BC062534.1

8 DOTS entries:

DT.91979584 DT.91702998 DT.95269094 DT.95320502 DT.100693593 DT.102824868 DT.102824870 DT.75154845

Selected AceView cDNA sequences (see all 121):

BM673763 AI926801 AW015675 BQ669438 CR608937 BE856719 F37812 AI801861

BM785544 AA679059 AA701309 AA482549 AI961676 BM677675 NM_145253 BQ061245

BQ887900 AI417947 BM765099 AA285012 BQ962361 BI962821 BC025327 AF447881

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for UBALD1 (see all 6) About this scheme

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

ECgene alternative splicing isoforms for UBALD1

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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UBALD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

UBALD1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

UBALD1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.513313

Custom PCR Arrays for UBALD1

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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)
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This gene was present in the common ancestor of chordates.

Orthologs for UBALD1 gene from Selected species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Ubald1^{1 , 5}	family with sequence similarity 100, member A⁵ UBA-like domain containing 1¹	90.67(n)¹ 93.14(a)¹	16 (2.48 cM)⁵ 207740¹ NM_145359.2¹ NP_663334.1¹ 4874778⁵
chicken (Gallus gallus)	Aves	FAM100A¹	family with sequence similarity 100, member A	68.14(n) 66.18(a)	416661 XM_414958.4 XP_414958.4
zebrafish (Danio rerio)	Actinopterygii	Dr.14752²	Transcribed sequences	74.14(n)	CF998871.1

ENSEMBL Gene Tree for UBALD1 (if available)
TreeFam Gene Tree for UBALD1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for UBALD1 gene

UBALD2²

2 SIMAP similar genes for UBALD1 using alignment to 6 protein entries: UBAD1_HUMAN (see all proteins):

FAM100A UBALD2

Find genes that share paralogs with UBALD1 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs146017239^1,2		--	4625509(+)	`AGGCCA/GGGCTC`	1	--	int¹		0	--	--	--	--
rs189512471^1,2		--	4625537(+)	`CCCAGA/CCACTG`	1	--	int¹		0	--	--	--	--
rs192969039^1,2		--	4625547(+)	`GGAGCC/TGAGAC`	1	--	int¹		0	--	--	--	--
rs2279408^1,2	C,F,A,H	--	4625571(+)	`GAGATA/GAAACC`	1	--	int¹		24		EA NS NA WA	4006
rs114703251^1,2	F	--	4625600(+)	`GTGTGA/GGCCCT`	1	--	int¹		1		WA	118
rs139992140^1,2	C	--	4625737(+)	`AGCACA/GCTGTG`	1	--	int¹		0	--	--	--	--
rs141741238^1,2		--	4625784(+)	`GAGGCG/TCGGGG`	1	--	int¹		0	--	--	--	--
rs79411261^1,2	C,F	--	4625785(+)	`AGGCTC/TGGGGT`	1	--	int¹		1		NA	120
rs59591276^1,2	C	--	4625823(+)	`AGAACC/GAGCTG`	1	--	int¹		0	--	--	--	--
rs11641419^1,2	C,H	--	4626254(+)	`GGCCCC/TCAAGG`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for UBALD1 (4658884 - 4665028 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for UBALD1: --

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing UBALD1

DNA2.0 Custom Variant and Variant Library Synthesis for UBALD1

(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.)
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(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)
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PubMed articles for UBALD1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with UBALD1)

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

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)^{1, 2} Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (Genomics 2007)
A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)¹ Stelzl U.... Wanker E.E. (Cell 2005)
The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)² Martin J.... Pennacchio L.A. (Nature 2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 124402	HGNC: 29576	AceView: LOC124402	Ensembl:ENSG00000153443	euGenes: HUgn124402
ECgene: UBALD1	H-InvDB: UBALD1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for UBALD1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for UBALD1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for UBALD1 gene:
Search GeneIP for patents involving UBALD1

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 2 Nov 2014 , 8 Jan 2015

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UBALD1 Gene

UBA-Like Domain Containing 1

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Export list of displayed genes

UBALD1 Gene

UBA-Like Domain Containing 1

Aliasesfor UBALD1 gene

Summariesfor UBALD1 gene

Genomic Viewsfor UBALD1 gene

Proteinsfor UBALD1 gene

UBALD1 Human Recombinant Protein Products:

UBALD1 Antibody Products:

UBALD1 Assay Products:

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Transcriptsfor UBALD1 gene

Expression for UBALD1 gene

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External Searches for UBALD1 gene

Genome Databases showing UBALD1 gene

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Specialized Databases showing UBALD1 gene

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Aliases
for UBALD1 gene

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for UBALD1 gene

Genomic Views
for UBALD1 gene

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for UBALD1 gene

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Families
for UBALD1 gene

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for UBALD1 gene

Localization
for UBALD1 gene

Pathways & Interactions
for UBALD1 gene

Drugs & Compounds
for UBALD1 gene

Transcripts
for UBALD1 gene

Expression
for UBALD1 gene

Orthologs
for UBALD1 gene

Paralogs
for UBALD1 gene

Genomic Variants
for UBALD1 gene

Disorders / Diseases
for UBALD1 gene

Publications
for UBALD1 gene

Intellectual Property
for UBALD1 gene

Products
for UBALD1 gene