C12orf44 Gene
protein-coding GIFtS: 48
GCID: GC12P052463
|
|
chromosome 12 open reading frame 44
| |
Aliases
for C12orf44 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromosome 12 Open Reading Frame 441 2 | | ATG1011 2 | | FLJ117731 | | Atg13-Interacting Protein2 | | Autophagy-Related Protein 1012 |
Export aliases for C12orf44 gene to outside databasesPrevious GC identifers: GC12P050751 GC12P049496 |
Summaries
for C12orf44 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: ATGA1_HUMAN, Q9BSB4Function: Autophagy factor required for autophagosome formation
Gene Wiki entry for C12orf44 (Autophagy-related protein 101)
|
Genomic Views
for C12orf44 gene
(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_000012.11 NC_018923.1 NT_029419.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C12orf44 gene promoter:
SRF Max1 SRF (504 AA) c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for C12orf44
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf44 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q13.13 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q13.13C12orf44 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P052463: view genomic region
(about GC identifiers)
Start:
|
52,463,030 bp from pter |
End:
|
52,471,279 bp from pter |
Size:
|
8,250 bases |
Orientation:
|
plus strand |
|
Proteins
for C12orf44 gene
(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: ATGA1_HUMAN, Q9BSB4 (See
protein sequence)Recommended Name: Autophagy-related protein 101 Size: 218 amino acids; 25003 Da
Subunit: Interacts with ATG13/KIAA0652. Associates with a complex composed of ATG13, ULK1 and RB1CC1
Subcellular location: Cytoplasm. Preautophagosomal structure. Note=Under starvation conditions, it is localized topuncate structures primarily representing the isolation membrane; the isolation membrane sequesters a portion of thecytoplasm resulting in autophagosome formation
Sequence caution: Sequence=AAG17273.1; Type=Frameshift; Positions=110;
Secondary accessions: Q9HAE2 Q9HBN1Explore the universe of human proteins at neXtProt for C12orf44: NX_Q9BSB4
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BSB4
C12orf44 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001092143.1 NP_068753.2
ENSEMBL proteins: ENSP00000338990 ENSP00000454613 ENSP00000450088 ENSP00000449935
Human Recombinant Protein Products for C12orf44:
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:0000407 | pre-autophagosomal structure |
IDA | 19597335 |
C12orf44 for ontologies About GeneDecksing
C12orf44 Antibody Products:
Assay Products for C12orf44: |
Protein
Domains /
Families
for C12orf44 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
C12orf44 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9BSB4ProtoNet protein and cluster: Q9BSB4 1 Blocks protein family: IPB012445 Protein of unknown function DUF1649
UniProtKB/Swiss-Prot: ATGA1_HUMAN, Q9BSB4Similarity: Belongs to the ATG101 family |
Function
for C12orf44 gene
(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: ATGA1_HUMAN, Q9BSB4Function: Autophagy factor required for autophagosome formation Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
C12orf44 for ontologies About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf44 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf44 (see all 2)
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Synthesis Service for C12orf44 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf44 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf44 |
|
Pathways & Interactions
for C12orf44 gene
(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 CentralTM Interacting Genes and Proteins Networks for C12orf44
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/574 Interacting proteins for C12orf44 (Q9BSB41, 2, 3 ENSP000003389904) via UniProtKB, MINT, STRING, and/or I2D (see all 574)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table
C12orf44 for ontologies About GeneDecksing
|
Drugs & Compounds
for C12orf44 gene(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 Tocris compounds for C12orf44
Search CenterWatch for drugs/clinical trials and news about C12orf44 / ATGA1
|
Transcripts
for C12orf44 gene(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,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
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 C12orf44 gene (2 alternative transcripts): NM_001098673.1 NM_021934.4 Unigene Cluster for C12orf44: Chromosome 12 open reading frame 44 Hs.9911 [show with all ESTs]Unigene Representative Sequence: BM9114757 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000547409 ENST00000336854(uc001rzu.4 uc009zmd.3) ENST00000552544
ENST00000550604 ENST00000553049 ENST00000552947 ENST00000548915
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf44 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf44 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): C12orf44 (NM_021934) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C12orf44 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf44 |
Additional cDNA sequence: AF218031.1 AK021835.1 BC005151.2 BC009937.2 BC064533.1 9 DOTS entries: DT.444467 DT.92436145 DT.101971010 DT.100805669 DT.95176182 DT.92436144 DT.95091519 DT.95142223 DT.95282959 24/235 AceView cDNA sequences (see all 235): BQ428007 CA489643 CR599287 BM852913 BI333391 AI919450 BQ012993 BE501153 BM982167 CF131035 BF969275 BM822012 CB137838 BQ773633 CA415815 BC064533 BU856493 AU119457 BE386194 BM975792 AW405864 AA579904 AI689039 NM_021934
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for C12orf44 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b |
|---|
|
| SP1: | | | | | | | | | | | - | | | | | | | | | | |
| SP2: | | | | | | | - | | | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | - | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for C12orf44
|
Expression
for C12orf44 gene
(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
| C12orf44 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGTTTGGGCT
About this image
See C12orf44 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C12orf44
SOURCE GeneReport for Unigene cluster: Hs.9911
SABiosciences Custom PCR Arrays for C12orf44
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C12orf44
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf44 |
Orthologs
for C12orf44 gene
(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 C12orf44 gene from 6/19 species (see all 19) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
9430023L20Rik1 , 5 |
RIKEN cDNA 9430023L20 gene1, 5 |
91.13(n)1
98.62(a)1 |
|
15 (56.67 cM)5
681181 NM_026566.21 NP_080842.11
1012843015 |
lizard
(Anolis carolinensis) |
Reptilia |
C12orf446 |
-- |
94(a) |
1 ↔ 1 |
2(92921409-92923060) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.116352 |
Xenopus laevis transcribed sequence with moderate similarity more |
78.53(n) |
|
BX849689.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.122422 |
Transcribed sequence with moderate similarity to protein more |
83.47(n) |
|
BG728092.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG70531 |
CG7053 |
61.77(n)
50.92(a) |
|
32871 NM_133098.3 NP_573326.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
CELE_Y69A2AR.71 |
Protein Y69A2AR.7 |
51.28(n)
38.97(a) |
|
177040 NM_171287.3 NP_741338.1 |
ENSEMBL Gene Tree for C12orf44 (if available)
TreeFam Gene Tree for C12orf44 (if available) |
Paralogs
for C12orf44 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C12orf44 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for C12orf44 (52463030 - 52471279 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C12orf44: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C12orf44 |
|
Disorders
/ Diseases
for C12orf44 gene
(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
|
C12orf44 for disorders About GeneDecksing
OMIM gene information: 615089
OMIM disorders: --
2  diseases for C12orf44: About MalaCardsintrahepatic cholangiocarcinoma cholangiocarcinoma
Export disorders for C12orf44 gene to outside databases
|
Publications
for C12orf44 gene (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 C12orf44 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with C12orf44) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Atg101, a novel mammalian autophagy protein interacting with Atg13. (PubMed id 19597335)1, 2, 3 Hosokawa N....Mizushima N. (2009)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
- Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
- A novel, human Atg13 binding protein, Atg101, interacts with ULK1 and is essential for macroautophagy. (PubMed id 19287211)1 Mercer C.A.... Dennis P.B. (2009)
- 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)
- Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
|
External Searches for C12orf44 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C12orf44 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C12orf44 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C12orf44 gene(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 C12orf44 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for C12orf44 gene:
Search GeneIP for patents involving C12orf44
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C12orf44 gene(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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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| | Antibodies & Assays for C12orf44 (ATG101) |
| | | |  |  |  |  | | | | |
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