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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C12orf44 Gene

protein-coding   GIFtS: 48
GCID: GC12P052463

Chromosome 12 Open Reading Frame 44

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromosome 12 Open Reading Frame 441 2
ATG1012
Atg13-Interacting Protein2
Autophagy-Related Protein 1012

External Ids:    HGNC: 256791   Entrez Gene: 606732   Ensembl: ENSG000001233957   OMIM: 6150895   UniProtKB: Q9BSB43   

Export aliases for C12orf44 gene to outside databases

Previous GC identifers: GC12P050751 GC12P049496


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

GeneCards Summary for C12orf44 Gene: 
C12orf44 (chromosome 12 open reading frame 44) is a protein-coding gene. Diseases associated with C12orf44 include intrahepatic cholangiocarcinoma, and cholangiocarcinoma. GO annotations related to this gene include protein complex binding and identical protein binding.

UniProtKB/Swiss-Prot: ATGA1_HUMAN, Q9BSB4
Function: Autophagy factor required for autophagosome formation. Stabilizes ATG13, protecting it from proteasomal
degradation

Gene Wiki entry for C12orf44 (Autophagy-related protein 101) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C12orf44 gene promoter:
         SRF   Max1   SRF (504 AA)   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   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: 12q13.13

C12orf44 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf44 gene location

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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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. Associates with a complex composed of ATG13, ULK1 and RB1CC1; the association with
this complex requires the presence of ATG13
Subcellular location: Cytoplasm. Preautophagosomal structure. Note=Under starvation conditions, it is localized to
puncate structures primarily representing the isolation membrane; the isolation membrane sequesters a portion of
the cytoplasm resulting in autophagosome formation
Sequence caution: Sequence=AAG17273.1; Type=Frameshift; Positions=110;
Secondary accessions: Q9HAE2 Q9HBN1

Explore the universe of human proteins at neXtProt for C12orf44: NX_Q9BSB4

Explore proteomics data for C12orf44 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BSB4

  • C12orf44 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C12orf44 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001092143.1  NP_068753.2  

    ENSEMBL proteins: 
     ENSP00000338990   ENSP00000454613   ENSP00000450088   ENSP00000449935  

    Human Recombinant Protein Products for C12orf44: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000407pre-autophagosomal structure IDA19597335

    C12orf44 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR012445 ATG101

    Graphical View of Domain Structure for InterPro Entry Q9BSB4

    ProtoNet protein and cluster: Q9BSB4

    1 Blocks protein domain: IPB012445 Protein of unknown function DUF1649

    UniProtKB/Swiss-Prot: ATGA1_HUMAN, Q9BSB4
    Similarity: Belongs to the ATG101 family


    C12orf44 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATGA1_HUMAN, Q9BSB4
    Function: Autophagy factor required for autophagosome formation. Stabilizes ATG13, protecting it from proteasomal
    degradation

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0032403protein complex binding IPI19597335
    GO:0042802identical protein binding IPI--
         
    C12orf44 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidC12orf44 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 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 Oct 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)

    5/621 Interacting proteins for C12orf44 (Q9BSB41, 2, 3 ENSP000003389904) via UniProtKB, MINT, STRING, and/or I2D (see all 621)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    ENSG00000232804P081073I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly IMP19597335

    C12orf44 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 C12orf44 (ATGA1)

    Search CenterWatch for drugs/clinical trials and news about C12orf44 / ATGA1

    (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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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: BM911475
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000547409 ENST00000336854(uc001rzu.4 uc009zmd.3) ENST00000552544
    ENST00000550604 ENST00000553049 ENST00000552947 ENST00000548915
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    hsa-miR-3128 hsa-miR-196a* hsa-miR-4306 hsa-let-7a-2* hsa-miR-545 hsa-miR-520a-5p hsa-miR-525-5p hsa-miR-185
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    Additional mRNA 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):

    CR599287 BU856493 BC009937 BU526664 BU521621 BM982167 BQ950255 BE501153 
    BE386194 AI689039 BQ637704 BE260612 BM975792 BQ918275 AI919450 AA604822 
    BC064533 CF131035 BC005151 AI687423 BM852913 BQ012993 AU119457 CA415815 

    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

    (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 <intensity>2/3
    CGAP TAG: AGTTTGGGCT
    C12orf44 Expression
    About this image


    See C12orf44 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C12orf44

    SOURCE GeneReport for Unigene cluster: Hs.9911
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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 C12orf44 gene from 6/13 species (see all 13)    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
    Uncharacterized protein
    94(a)
    1 ↔ 1
    2(92921376-92924197)
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C12orf44 gene
    1 SIMAP similar gene for C12orf44 using alignment to 3 protein entries:     F8VQD9_HUMAN (see all proteins):
    ATG101

    C12orf44 for paralogs           About GeneDecksing



    (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) 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

    10/244 SNPs in C12orf44 are shown (see all 244)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1851442901,2
    --49494962(+) TTATAG/TGTACA 2 -- us2k10--------
    rs107834871,2
    C,F,A,H--52461819(+) CATGTG/ATTAGA 2 -- us2k120Minor allele frequency- A:0.24NS EA NA WA 2344
    rs1898483331,2
    --52461822(+) GTGTTA/GGAAAA 2 -- us2k10--------
    rs1999725451,2
    C--52461860(+) AGGGT-/TCCTCTC 2 -- us2k10--------
    rs128245361,2
    C,F--52462105(+) agtacC/Tgggat 2 -- us2k18Minor allele frequency- T:0.26NA WA EA 368
    rs1832761891,2
    --52462268(+) AAGTAA/GCTGGG 2 -- us2k10--------
    rs79766981,2
    C,F,H--52462330(+) agatgG/Agagtc 2 -- us2k110Minor allele frequency- A:0.05NS EA NA WA 1172
    rs1864845381,2
    --52462389(+) TCTGTC/GCTAAG 2 -- us2k10--------
    rs1924415181,2
    C--52462411(+) GTTGGC/GATCAC 2 -- us2k10--------
    rs1833320711,2
    C--52462705(+) AGGAGA/GCGGAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for C12orf44 (52463030 - 52471279 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for C12orf44:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1425n71CNV Loss21882294
    nsv899082CNV Loss21882294
    nsv832409CNV Loss17160897
    nsv470292CNV Loss18288195
    nsv899079CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 615089    OMIM disorders: --

    2 diseases for C12orf44:    About MalaCards
    intrahepatic cholangiocarcinoma    cholangiocarcinoma


    C12orf44 for disorders           About GeneDecksing


    Export disorders for C12orf44 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 C12orf44 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with C12orf44)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Atg101, a novel mammalian autophagy protein interacting with Atg13. (PubMed id 19597335)1, 2, 3 Hosokawa N....Mizushima N. (2009)
    2. A novel, human Atg13 binding protein, Atg101, interacts with ULK1 and is essential for macroautophagy. (PubMed id 19287211)1, 2 Mercer C.A.... Dennis P.B. (2009)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Lacritin rescues stressed epithelia via rapid forkhead box O3 (FOXO3)-associated autophagy that restores metabolism. (PubMed id 23640897)1 Wang N....Laurie G.W. (2013)
    5. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    8. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 60673 HGNC: 25679 AceView: FLJ11773 Ensembl:ENSG00000123395 euGenes: HUgn60673
    ECgene: C12orf44 H-InvDB: C12orf44

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for C12orf44 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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



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