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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GRAMD1B Gene

protein-coding GIFtS: 45
GCID: GC11P123396

GRAM domain containing 1B

Explore 4 diseases affiliated with
GRAMD1B 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
GRAM Domain Containing 1B¹ ²
KIAA1201¹ ³
GRAM Domain-Containing Protein 1B²

External Ids:	HGNC: 29214¹	Entrez Gene: 57476²	Ensembl: ENSG00000023171⁷	UniProtKB: Q3KR37³

Export aliases for GRAMD1B gene to outside databases

Previous GC identifers: GC11P122903 GC11U900713 GC11P119338

(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_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GRAMD1B gene promoter:
Bach1 AhR Pax-5 Lmo2 POU6F1 (c2) MIF-1 Nkx2-5 Arnt FOXL1 GATA-2
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for GRAMD1B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GRAMD1B

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

Entrez Gene cytogenetic band: 11q24.1 Ensembl cytogenetic band: 11q24.1 HGNC cytogenetic band: 11q24.1

GRAMD1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRAMD1B gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P123396: view genomic region (about GC identifiers)

Start:	123,396,344 bp from pter	End:	123,498,482 bp from pter
Size:	102,139 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: GRM1B_HUMAN, Q3KR37 (See protein sequence)

Recommended Name: GRAM domain-containing protein 1B

Size: 738 amino acids; 85400 Da

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

Sequence caution: Sequence=BAA86515.1; Type=Erroneous initiation;

Secondary accessions: Q6UW85 Q9ULL9

Alternative splicing: 3 isoforms: Q3KR37-1 Q3KR37-2 Q3KR37-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GRAMD1B: NX_Q3KR37

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q3KR37

GRAMD1B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_065767.1

ENSEMBL proteins:

ENSP00000402457 ENSP00000436500 ENSP00000432987 ENSP00000434214 ENSP00000388458

ENSP00000325628

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	Uscn Proteins for GRAMD1B

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	--

GRAMD1B 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

GRAMD1B for domains About GeneDecksing

1 InterPro domain/family:

IPR004182 GRAM

Graphical View of Domain Structure for InterPro Entry Q3KR37

ProtoNet protein and cluster: Q3KR37

1 Blocks protein family: IPB004182 GRAM domain

UniProtKB/Swiss-Prot: GRM1B_HUMAN, Q3KR37

Similarity: Contains 1 GRAM domain

(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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1 GenomeRNAi human phenotype for GRAMD1B:

Decreased Salmonella enterica

Animal Models:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Gramd1b):

no phenotypic analysis

GRAMD1B for phenotypes About GeneDecksing

(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 GRAMD1B

(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

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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 GRAMD1B gene:

NM_020716.1

Unigene Clusters for GRAMD1B:

GRAM domain containing 1B

Hs.144725 [show with all ESTs], Hs.732509 [show with all ESTs]

Unigene Representative Sequences: AB033027, BC011969

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

ENST00000456860 ENST00000529750(uc001pyx.2 uc001pyw.2) ENST00000532581(uc010rzw.2)

ENST00000529432(uc010rzx.1) ENST00000534764(uc009zbe.1) ENST00000450171(uc001pyy.2)

ENST00000525945 ENST00000322282

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Additional cDNA sequence: BC011969.1

9 DOTS entries:

DT.445219 DT.75153863 DT.95334339 DT.100709027 DT.100735549 DT.100709026 DT.99968391 DT.456164

DT.95352591

24/66 AceView cDNA sequences (see all 66):

CB158013 CR617890 BQ918177 CD518630 AI025782 AA322415 AI815988 AA292208

AA434319 CD370066 AY358924 BF223219 BF057222 AA322925 BX103405 AA349972

BU186895 BG470330 BX350541 BV185808 BX390828 AA433967 BC075859 BU171727

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

GRAMD1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAAGTACAGT

About this image
See GRAMD1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GRAMD1B

SOURCE GeneReport for Unigene clusters: Hs.144725 Hs.732509

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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 eukaryotes.

Orthologs for GRAMD1B gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GRAMD1B¹	GRAM domain containing 1B	81.64(n) 91.13(a)		769528 XM_003642600.1 XP_003642648.1
lizard (Anolis carolinensis)	Reptilia	GRAMD1B⁶	--	89(a)	1 ↔ 1	LGa(3310449-3389024)
zebrafish (Danio rerio)	Actinopterygii	gramd1b¹	GRAM domain containing 1B	71.24(n) 76.95(a)		100332318 XM_002665412.2 XP_002665458.2
fruit fly (Drosophila melanogaster)	Insecta	CG30284⁶ CG34394⁶	--	22(a) 18(a)	many ↔ many many ↔ many	2R(17538325-17539504) 2L(3358640-3373372)
worm (Caenorhabditis elegans)	Secernentea	ZC328.3¹	Protein ZC328.3	44.76(n) 31.93(a)		172343 NM_001047251.3 NP_001040716.1
rice (Oryza sativa)	Liliopsida	--	expressed protein	16(a)	1 → many	7(18320789-18323700)

ENSEMBL Gene Tree for GRAMD1B (if available)
TreeFam Gene Tree for GRAMD1B (if available)

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

Paralogs for GRAMD1B gene

GRAMD1C² GRAMD2² GRAMD3² GRAMD1A²

2 SIMAP similar genes for GRAMD1B using alignment to 4 protein entries: GRM1B_HUMAN (see all proteins):

GRAMD1A GRAMD1C

GRAMD1B 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 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs186876295^1,2		--	123394561(+)	`TACAGG/TCTCCA`	1	--	us2k¹		0	--	--	--	--
rs191721971^1,2		--	123394571(+)	`AGGAGA/CTTTGA`	1	--	us2k¹		0	--	--	--	--
rs77502336^1,2	C,	--	123394636(+)	`ATGGGG/CCTATG`	1	--	us2k¹		4		WA NA EA	360
rs34378731^1,2	C,	--	123394723(+)	`CTTTCG/ATTTTT`	1	--	us2k¹		1		NA	2
rs115457608^1,2	F,	--	123394791(+)	`CCACGT/AGGACA`	1	--	us2k¹		1		WA	118
rs185590856^1,2		--	123394824(+)	`TAGTTC/TGGTTT`	1	--	us2k¹		0	--	--	--	--
rs190247457^1,2		--	123394847(+)	`TTAAAC/TGCTTG`	1	--	us2k¹		0	--	--	--	--
rs55981535^1,2	C,	--	123394863(+)	`AGTACC/ACTACA`	1	--	us2k¹		1		WA	2
rs142421891^1,2		--	123394875(+)	`TCCCC-/AAGCCC`	1	--	us2k¹		0	--	--	--	--
rs187732278^1,2		--	123394915(+)	`GAATGA/GCACAC`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GRAMD1B (123396344 - 123498482 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for GRAMD1B
1 CNV: 3868
1 Indel: 101363

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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

GRAMD1B for disorders About GeneDecksing

4 diseases for GRAMD1B: About MalaCards

chronic lymphocytic leukemia lymphocytic leukemia leukemia retinitis

Human Genome Epidemiology (HuGE) Navigator: GRAMD1B (2 documents)

Export disorders for GRAMD1B 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 GRAMD1B gene integrated from 9 sources:
(articles sorted by number of sources associating them with GRAMD1B)

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

Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)^{1, 2, 3} Nagase T.... Ohara O. (1999)
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2} Clark H.F.... Gray A.M. (2003)
Genetic susceptibility for chronic lymphocytic leukem ia among Chinese in Hong Kong. (PubMed id 20731705)¹ Lan Q....Rothman N. (2010)
Genetic susceptibility variants for chronic lymphocyt ic leukemia. (PubMed id 20332261)¹ Slager S.L....Cerhan J.R. (2010)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia. (PubMed id 18758461)¹ Di Bernardo M.C....Houlston R.S. (2008)
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)
Expressed sequence tag analysis of human retina for the NEIBank project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts. (PubMed id 12107411)¹ Wistow G.... Peterson K. (2002)
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: 57476	HGNC: 29214	AceView: KIAA1201	Ensembl:ENSG00000023171	euGenes: HUgn57476
ECgene: GRAMD1B	H-InvDB: GRAMD1B

(According to HUGE)
About This Section

HUGE: KIAA1201

(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 GRAMD1B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GRAMD1B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for GRAMD1B gene:
Search GeneIP for patents involving GRAMD1B

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: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 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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GRAMD1B Gene

GRAM domain containing 1B

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Export list of displayed genes

GRAMD1B Gene

GRAM domain containing 1B

Aliasesfor GRAMD1B gene

Summariesfor GRAMD1B gene

Genomic Viewsfor GRAMD1B gene

Proteinsfor GRAMD1B gene

Protein Domains /Familiesfor GRAMD1B gene

Functionfor GRAMD1B gene

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Expression for GRAMD1B gene

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for GRAMD1B gene

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for GRAMD1B gene

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for GRAMD1B gene

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for GRAMD1B gene

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for GRAMD1B gene

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