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Aliases for KIAA1324 Gene

Aliases for KIAA1324 Gene

  • KIAA1324 2 3
  • Estrogen-Induced Gene 121 Protein 3 4
  • EIG121 3 4
  • Estrogen Induced Gene 121 2
  • UPF0577 Protein KIAA1324 3
  • Maba1 3

External Ids for KIAA1324 Gene

Previous GeneCards Identifiers for KIAA1324 Gene

  • GC01P110135
  • GC01P108659
  • GC01P108758
  • GC01P108955
  • GC01P109368
  • GC01P109458
  • GC01P109656
  • GC01P107550

Summaries for KIAA1324 Gene

Entrez Gene Summary for KIAA1324 Gene

  • 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]

GeneCards Summary for KIAA1324 Gene

KIAA1324 (KIAA1324) is a Protein Coding gene. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is KIAA1324L.

UniProtKB/Swiss-Prot for KIAA1324 Gene

  • May protect cells from cell death by inducing cytosolic vacuolization and upregulating the autophagy pathway.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1324 Gene

Genomics for KIAA1324 Gene

Regulatory Elements for KIAA1324 Gene

Enhancers for KIAA1324 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F109161 1.1 Ensembl ENCODE 54.3 +49.5 49535 4.4 CTCF PKNOX1 CEBPG RAD21 ZKSCAN1 IRF9 E2F1 ZNF664 GATA3 CTBP1 KIAA1324 SARS TMEM167B GC01M109207 C1orf194
GH01F109179 1.2 Ensembl ENCODE 44.1 +67.4 67355 3.1 ARID4B SIN3A FEZF1 YY1 GATA2 SP5 PPARG KAT8 MIER3 RCOR2 KIAA1324 GC01M109207 C1orf194
GH01F109196 1.3 Ensembl ENCODE 29.6 +84.2 84239 2.8 HDGF PKNOX1 ARID4B SIN3A FOS ZNF263 SP3 SP5 SMARCB1 KAT8 KIAA1324 ENSG00000258634 PRPF38B CELSR2 GC01M109207 C1orf194
GH01F109167 0.7 Ensembl 42.8 +53.9 53922 1.2 SP1 ZFHX2 MTA2 EED IKZF1 CEBPB EBF1 PRDM1 GABPA EGR2 KIAA1324 SCARNA2 GC01M109207 C1orf194
GH01F109200 1.1 Ensembl ENCODE 20.8 +87.7 87666 1.1 CTCF KLF1 TFAP4 ARNT JUN KLF17 EBF1 RAD21 ZFHX2 ZNF316 KIAA1324 GC01M109207 C1orf194
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KIAA1324 on UCSC Golden Path with GeneCards custom track

Promoters for KIAA1324 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001748301 321 401 ATF1 PKNOX1 CREB3L1 SIN3A BMI1 ZNF48 RCOR1 EGR2 ZNF263 ZBTB11
ENSR00001748300 -479 801 HDGF PKNOX1 CREB3L1 ARID4B SIN3A ZNF2 YY1 ZNF143 KLF13 ZNF263

Genomic Location for KIAA1324 Gene

Chromosome:
1
Start:
109,113,679 bp from pter
End:
109,206,781 bp from pter
Size:
93,103 bases
Orientation:
Plus strand

Genomic View for KIAA1324 Gene

Genes around KIAA1324 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA1324 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA1324 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1324 Gene

Proteins for KIAA1324 Gene

  • Protein details for KIAA1324 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXG2-K1324_HUMAN
    Recommended name:
    UPF0577 protein KIAA1324
    Protein Accession:
    Q6UXG2
    Secondary Accessions:
    • Q08AE6
    • Q5T5C9
    • Q5T5D0
    • Q5T5D1
    • Q9P2M2

    Protein attributes for KIAA1324 Gene

    Size:
    1013 amino acids
    Molecular mass:
    111382 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI13596.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI13597.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI13598.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22280.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA1324 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA1324 Gene

Post-translational modifications for KIAA1324 Gene

  • Glycosylation at Asn 153, Asn 404, Asn 576, Asn 672, and Asn 717
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIAA1324 Gene

Domains & Families for KIAA1324 Gene

Protein Domains for KIAA1324 Gene

Suggested Antigen Peptide Sequences for KIAA1324 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UXG2

UniProtKB/Swiss-Prot:

K1324_HUMAN :
  • Belongs to the UPF0577 family.
Family:
  • Belongs to the UPF0577 family.
genes like me logo Genes that share domains with KIAA1324: view

No data available for Gene Families for KIAA1324 Gene

Function for KIAA1324 Gene

Molecular function for KIAA1324 Gene

UniProtKB/Swiss-Prot Function:
May protect cells from cell death by inducing cytosolic vacuolization and upregulating the autophagy pathway.
UniProtKB/Swiss-Prot Induction:
By estrogen replacement therapy.

Gene Ontology (GO) - Molecular Function for KIAA1324 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with KIAA1324: view
genes like me logo Genes that share phenotypes with KIAA1324: view

Animal Models for KIAA1324 Gene

MGI Knock Outs for KIAA1324:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KIAA1324 Gene

Localization for KIAA1324 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA1324 Gene

Cell membrane; Single-pass type I membrane protein. Late endosome membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIAA1324 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 3
golgi apparatus 3
endosome 3
nucleus 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KIAA1324 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 colocalizes_with lysosome IEA,IDA 21072319
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
GO:0005770 colocalizes_with late endosome IDA 21072319
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with KIAA1324: view

Pathways & Interactions for KIAA1324 Gene

SuperPathways for KIAA1324 Gene

No Data Available

Interacting Proteins for KIAA1324 Gene

Selected Interacting proteins: Q6UXG2-K1324_HUMAN for KIAA1324 Gene via IID

Gene Ontology (GO) - Biological Process for KIAA1324 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IMP 21072319
GO:0006914 autophagy IEA --
GO:0009267 cellular response to starvation IMP 21072319
GO:0044090 positive regulation of vacuole organization IMP 21072319
GO:2000786 positive regulation of autophagosome assembly IMP 21072319
genes like me logo Genes that share ontologies with KIAA1324: view

No data available for Pathways by source and SIGNOR curated interactions for KIAA1324 Gene

Transcripts for KIAA1324 Gene

Unigene Clusters for KIAA1324 Gene

KIAA1324:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1324 Gene

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:

Relevant External Links for KIAA1324 Gene

GeneLoc Exon Structure for
KIAA1324
ECgene alternative splicing isoforms for
KIAA1324

Expression for KIAA1324 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIAA1324 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIAA1324 Gene

This gene is overexpressed in Pancreas (x10.4), Pituitary (x6.9), Minor Salivary Gland (x6.8), and Stomach (x6.1).

Protein differential expression in normal tissues from HIPED for KIAA1324 Gene

This gene is overexpressed in Nasal epithelium (29.6), Islet of Langerhans (13.1), and Salivary gland (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIAA1324 Gene



NURSA nuclear receptor signaling pathways regulating expression of KIAA1324 Gene:

KIAA1324

SOURCE GeneReport for Unigene cluster for KIAA1324 Gene:

Hs.708190

mRNA Expression by UniProt/SwissProt for KIAA1324 Gene:

Q6UXG2-K1324_HUMAN
Tissue specificity: Expressed in normal endometrium but overexpressed in endometroid tumors.
genes like me logo Genes that share expression patterns with KIAA1324: view

Primer Products

No data available for Protein tissue co-expression partners for KIAA1324 Gene

Orthologs for KIAA1324 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA1324 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1324 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1324 34 35
  • 91.05 (n)
cow
(Bos Taurus)
Mammalia KIAA1324 34 35
  • 90.49 (n)
mouse
(Mus musculus)
Mammalia 5330417C22Rik 34 16 35
  • 87.38 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA1324 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1324 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1324 34 35
  • 70.03 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA1324 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1324 34
  • 64.96 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-163l21.8 34 35
  • 61.39 (n)
worm
(Caenorhabditis elegans)
Secernentea Y73F8A.5 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
Species where no ortholog for KIAA1324 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIAA1324 Gene

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

Paralogs for KIAA1324 Gene

Paralogs for KIAA1324 Gene

(1) SIMAP similar genes for KIAA1324 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with KIAA1324: view

Variants for KIAA1324 Gene

Sequence variations from dbSNP and Humsavar for KIAA1324 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_035751 A breast cancer sample
rs10158318 -- 109,166,300(+) cacct(G/T)cctca intron-variant
rs10158326 -- 109,166,410(+) CAAAT(A/G)CTGTG intron-variant
rs10159093 -- 109,167,734(+) cctcc(C/T)gcgta intron-variant
rs10494103 -- 109,131,659(+) TATAA(C/T)GCACG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA1324 Gene

Variant ID Type Subtype PubMed ID
nsv831026 CNV loss 17160897
nsv547468 CNV loss 21841781
nsv520456 CNV loss 19592680
nsv463128 CNV loss 19166990
nsv1012267 CNV gain 25217958
nsv1009592 CNV loss 25217958
nsv1008458 CNV gain 25217958
esv3894001 CNV gain 25118596
esv3587149 CNV loss 21293372
esv3578078 CNV loss 25503493
esv3578077 CNV loss 25503493
esv3411231 CNV duplication 20981092
esv3302633 CNV tandem duplication 20981092
esv2750798 CNV loss 17911159
esv2661978 CNV deletion 23128226

Variation tolerance for KIAA1324 Gene

Residual Variation Intolerance Score: 49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.51; 55.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA1324 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA1324

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1324 Gene

Disorders for KIAA1324 Gene

Relevant External Links for KIAA1324

Genetic Association Database (GAD)
KIAA1324
Human Genome Epidemiology (HuGE) Navigator
KIAA1324
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA1324

No disorders were found for KIAA1324 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KIAA1324 Gene

Publications for KIAA1324 Gene

  1. Identification of a novel estrogen-regulated gene, EIG121, induced by hormone replacement therapy and differentially expressed in type I and type II endometrial cancer. (PMID: 16322283) Deng L. … Davies P.J.A. (Clin. Cancer Res. 2005) 2 3 4 64
  2. 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. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The novel estrogen-induced gene EIG121 regulates autophagy and promotes cell survival under stress. (PMID: 21072319) Deng L. … Broaddus R.R. (Cell Death Dis 2010) 3 4 64
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64

Products for KIAA1324 Gene

Sources for KIAA1324 Gene

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