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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA1324 Gene

protein-coding GIFtS: 47
GCID: GC01P109656

KIAA1324

Explore 5 diseases affiliated with
KIAA1324 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
KIAA1324¹ ²
EIG121¹ ² ³
Maba1¹
Estrogen-Induced Gene 121 Protein² ³
Estrogen Induced Gene 121²
UPF0577 Protein KIAA1324²

External Ids:	HGNC: 29618¹	Entrez Gene: 57535²	Ensembl: ENSG00000116299⁷	OMIM: 611298⁵	UniProtKB: Q6UXG2³

Export aliases for KIAA1324 gene to outside databases

Previous GC identifers: GC01P110135 GC01P108659 GC01P108758 GC01P108955 GC01P109368 GC01P109458 GC01P107550

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

Entrez Gene summary for KIAA1324:

Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane

protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and

may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript

variants. (provided by RefSeq, May 2012)

UniProtKB/Swiss-Prot: K1324_HUMAN, Q6UXG2

Function: May play a role as a marker of hyperestrogenic state and estrogen-related type I endometrial carcinoma

(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 KIAA1324 gene promoter:
C/EBPbeta AML1a FOXF2 Pax-6 Lmo2 Max FOXO4 Sox9 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KIAA1324 promoter sequence

Search SABiosciences Chromatin IP Primers for KIAA1324

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1324

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

KIAA1324 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1324 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P109656: view genomic region (about GC identifiers)

Start:	109,656,301 bp from pter	End:	109,749,403 bp from pter
Size:	93,103 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: K1324_HUMAN, Q6UXG2 (See protein sequence)

Recommended Name: UPF0577 protein KIAA1324 precursor

Size: 1013 amino acids; 111382 Da

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

Sequence caution: Sequence=CAI13596.1; Type=Erroneous gene model prediction; Sequence=CAI13597.1; Type=Erroneous gene

model prediction; Sequence=CAI13598.1; Type=Erroneous gene model prediction; Sequence=CAI22280.1; Type=Erroneous gene

model prediction;

Secondary accessions: Q08AE6 Q5T5C9 Q5T5D0 Q5T5D1 Q9P2M2

Alternative splicing: 4 isoforms: Q6UXG2-1 Q6UXG2-2 Q6UXG2-3 Q6UXG2-4

Explore the universe of human proteins at neXtProt for KIAA1324: NX_Q6UXG2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6UXG2

KIAA1324 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001253977.1 NP_001253978.1 NP_065826.2

ENSEMBL proteins:

ENSP00000431134 ENSP00000431349 ENSP00000432164 ENSP00000435066 ENSP00000358955

ENSP00000393964 ENSP00000434595 ENSP00000432023 ENSP00000433420

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	Uscn Proteins for KIAA1324

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	colocalizes with lysosome	IDA	--
GO:0005770	colocalizes with late endosome	IDA	--
GO:0005802	colocalizes with trans-Golgi network	IDA	--
GO:0005887	integral to plasma membrane	IDA	--

KIAA1324 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

KIAA1324 for domains About GeneDecksing

2 InterPro domains/families:

IPR009011 Man6P_isomerase_rcpt-bd_dom

IPR009030 Growth_fac_rcpt

Graphical View of Domain Structure for InterPro Entry Q6UXG2

ProtoNet protein and cluster: Q6UXG2

UniProtKB/Swiss-Prot: K1324_HUMAN, Q6UXG2

Similarity: Belongs to the UPF0577 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

Molecular Function:

UniProtKB/Swiss-Prot Summary: K1324_HUMAN, Q6UXG2

Function: May play a role as a marker of hyperestrogenic state and estrogen-related type I endometrial carcinoma

Induction: By estrogen replacement therapy

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--

KIAA1324 for ontologies About GeneDecksing

Phenotypes:
1 MGI phenotypic allele

for 5330417C22Rik (no phenotypes)

KIAA1324 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out 5330417C22Rik^tm1Lex for KIAA1324

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for KIAA1324

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		hsa-miR-194* hsa-miR-579 hsa-miR-4307 hsa-miR-938 hsa-miR-650 hsa-miR-3916 hsa-miR-1304 hsa-miR-3161

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1324

(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 KIAA1324

1 Interacting protein for KIAA1324 (Q6UXG2³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RANBP2	P49792³	I2D: score=2

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016236	macroautophagy	IMP	--
GO:0042981	regulation of apoptotic process	IMP	--
GO:0044090	positive regulation of vacuole organization	IMP	--
GO:2000786	positive regulation of autophagic vacuole assembly	IMP	--

KIAA1324 for ontologies About GeneDecksing

(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 KIAA1324
Search CenterWatch for drugs/clinical trials and news about KIAA1324 / K1324

(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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KIAA1324 gene (3 alternative transcripts):

NM_001267048.1 NM_001267049.1 NM_020775.4

Unigene Cluster for KIAA1324:

KIAA1324

Hs.708190 [show with all ESTs]

Unigene Representative Sequence: NM_020775

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

ENST00000533147 ENST00000531664 ENST00000534476 ENST00000526264 ENST00000369939(uc009wex.2)

ENST00000457623(uc001dws.1 uc009wez.1) ENST00000529753 ENST00000527996

ENST00000490758 ENST00000533374 ENST00000369938 ENST00000369936(uc010ovg.2 uc021orb.1 uc009wey.3 uc001dwr.3)

ENST00000464345 ENST00000527501 ENST00000486065

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		hsa-miR-194* hsa-miR-579 hsa-miR-4307 hsa-miR-938 hsa-miR-650 hsa-miR-3916 hsa-miR-1304 hsa-miR-3161

		SwitchGear 3'UTR luciferase reporter plasmid: KIAA1324 3' UTR sequence

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Additional cDNA sequence:

AB037745.1 AJ512825.1 AJ512826.1 AK026832.1 AK057647.1 AK122934.1 AK297221.1 AK297478.1

AK301598.1 AK304003.1 AY358366.1 BC031648.1 BC125208.1 NR_049773.1 NR_049774.1

9 DOTS entries:

DT.101983974 DT.100786740 DT.65286967 DT.100027754 DT.92037242 DT.312554 DT.97843309 DT.95168581

DT.95302967

24/185 AceView cDNA sequences (see all 185):

CA842196 CD723729 BU073321 CB049304 BE673343 NM_020775 AJ512825 AA570637

AI623092 BQ269992 AI687545 AI363749 AI696598 BU790537 CD723693 AJ512826

BI962840 AI683001 BQ271027 AB037745 BE046818 AL708707 AI301140 AI889507

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1324 About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23a	·	23b	^
SP1:																					-		-
SP2:																	-				-		-
SP3:																							-
SP4:
SP5:			-

ExUns:	24
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for KIAA1324

(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

KIAA1324 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCACTTTTTT

About this image

KIAA1324 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KIAA1324 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA1324

SOURCE GeneReport for Unigene cluster: Hs.708190

UniProtKB/Swiss-Prot: K1324_HUMAN, Q6UXG2

Tissue specificity: Expressed in normal endometrium but overexpressed in endometroid tumors

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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 KIAA1324 gene from 6/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	5330417C22Rik^{1 , 5}	RIKEN cDNA 5330417C22 gene^{1, 5}	87.38(n)¹ 90.78(a)¹		3 (47.14 cM)⁵ 229722¹ NM_001033304.1¹ NP_001028476.1¹ 108455694⁵
chicken (Gallus gallus)	Aves	LOC429496¹	UPF0577 protein KIAA1324-like	70.11(n) 70.39(a)		429496 XM_427052.3 XP_427052.2
lizard (Anolis carolinensis)	Reptilia	KIAA1324⁶	--	76(a)	1 ↔ 1	4(124852470-124891776)
tropical clawed frog (Xenopus tropicalis)	Amphibia	137723989²	--	69.59(n)		137723989
zebrafish (Danio rerio)	Actinopterygii	si:ch211-163l21.8¹	si:ch211-163l21.8	61.34(n) 57.72(a)		449761 XM_690959.2 XP_696051.1
worm (Caenorhabditis elegans)	Secernentea	Y73F8A.5⁶	--	29(a)	possible ortholog	IV(15259881-15269013)

ENSEMBL Gene Tree for KIAA1324 (if available)
TreeFam Gene Tree for KIAA1324 (if available)

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

Paralogs for KIAA1324 gene

KIAA1324L²

1 SIMAP similar gene for KIAA1324 using alignment to 8 protein entries: K1324_HUMAN (see all proteins):

KIAA1324L

KIAA1324 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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs139799222^1,2		--	109654588(+)	`CTTGGC/TGTTTA`	4	--	int¹ us2k¹		0	--	--	--	--
rs181070407^1,2		--	109654754(+)	`AAATCA/GGTGTC`	4	--	int¹ us2k¹		0	--	--	--	--
rs72986849^1,2	C	--	109654782(+)	`CACACA/GTAACA`	4	--	int¹ us2k¹		2		WA	120
rs637466^1,2	C,F,A	--	109654794(+)	`ACATAT/CTGTGG`	4	--	us2k¹ int¹		8		WA NA CSA EA	366
rs186311966^1,2		--	109654815(+)	`AAGACA/GGAGAC`	4	--	us2k¹ int¹		0	--	--	--	--
rs150061828^1,2	C	--	109654944(+)	`AGGAAC/TCTGGG`	4	--	us2k¹ int¹		0	--	--	--	--
rs145383583^1,2		--	109655008(+)	`CTCTAG/TACTAG`	4	--	int¹ us2k¹		0	--	--	--	--
rs648749^1,2	C,F	--	109655015(+)	`CTAGAA/GCTCTA`	4	--	int¹ us2k¹		10		EA NA WA CSA	266
rs149201998^1,2		--	109655044(+)	`CGCCTC/TTGAAA`	4	--	us2k¹ int¹		0	--	--	--	--
rs142401350^1,2		--	109655134(+)	`GAGTCC/TTTTAT`	4	--	us2k¹ int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KIAA1324 (109656301 - 109749403 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for KIAA1324
2 CNVs: 4241 8922

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIAA1324

DNA2.0 Custom Variant and Variant Library Synthesis for KIAA1324

(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

KIAA1324 for disorders           About GeneDecksing

OMIM gene information: 611298    OMIM disorders: --

5 diseases for KIAA1324:    About MalaCards

carcinoma intrahepatic cholangiocarcinoma cholangiocarcinoma endometrial carcinoma

endometrial cancer

Human Genome Epidemiology (HuGE) Navigator: KIAA1324 (1 document)

Export disorders for KIAA1324 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 KIAA1324 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with KIAA1324)

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

Identification of a novel estrogen-regulated gene, EIG121, induced by hormone replacement therapy and differentially expressed in type I and type II endometrial cancer. (PubMed id 16322283)^{1, 2, 3} Deng L.... Davies P.J.A. (2005)
Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)^{1, 2, 3} Nagase T.... Ohara O. (2000)
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)
Molecular clustering based on ERI+ and EIG121 predicts survival in high-grade serous carcinoma of the ovary/peritoneum. (PubMed id 21102415)¹ Schlumbrecht M.P....Broaddus R.R. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
The novel estrogen-induced gene EIG121 regulates auto phagy and promotes cell survival under stress. (PubMed id 21072319)¹ Deng L....Broaddus R.R. (2010)
Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)¹ Wang A.G....Kim N.S. (2006)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (2006)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)² Gregory S.G.... Bentley D.R. (2006)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 57535	HGNC: 29618	AceView: KIAA1324	Ensembl:ENSG00000116299	euGenes: HUgn57535
ECgene: KIAA1324	H-InvDB: KIAA1324

(According to HUGE)
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HUGE: KIAA1324

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for KIAA1324	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIAA1324 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 KIAA1324 gene:
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GeneCards and IP:
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