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HIGD1C Gene

protein-coding   GIFtS: 32
GCID: GC12P051347

HIG1 Hypoxia Inducible Domain Family, Member 1C

(Previous names: HIG1 domain family, member 1C)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
HIG1 Hypoxia Inducible Domain Family, Member 1C1 2
HIG1 Domain Family, Member 1C1 2
GM9212
HIG1 Domain Family Member 1C2
UBIE3
UBIE23

External Ids:    HGNC: 280441   Entrez Gene: 6132272   Ensembl: ENSG000002145117   UniProtKB: A8MV813   

Export aliases for HIGD1C gene to outside databases

Previous GC identifers: GC12U900528 GC12P049636 GC12P048380


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HIGD1C Gene:
HIGD1C (HIG1 hypoxia inducible domain family, member 1C) is a protein-coding gene. Diseases associated with HIGD1C include hypoxia. An important paralog of this gene is HIGD1B.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the HIGD1C gene promoter:
         HEN1   FOXJ2 (long isoform)   Brachyury   FOXJ2   Evi-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for HIGD1C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HIGD1C


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

Entrez Gene cytogenetic band: 12q13.12   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13.12

HIGD1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIGD1C gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P051347:  view genomic region     (about GC identifiers)

Start:
51,347,705 bp from pter      End:
51,364,289 bp from pter
Size:
16,585 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HIG1C_HUMAN, A8MV81 (See protein sequence)
Recommended Name: HIG1 domain family member 1C  
Size: 97 amino acids; 11079 Da

Explore the universe of human proteins at neXtProt for HIGD1C: NX_A8MV81

Explore proteomics data for HIGD1C at MOPED


See HIGD1C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001103089.1  
ENSEMBL proteins: 
 ENSP00000381473  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR007667 Hypoxia_induced_domain

Graphical View of Domain Structure for InterPro Entry A8MV81

ProtoNet protein and cluster: A8MV81

UniProtKB/Swiss-Prot: HIG1C_HUMAN, A8MV81
Similarity: Contains 1 HIG1 domain


HIGD1C 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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
HIG1C_HUMAN, A8MV81: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane2
cytosol1
endoplasmic reticulum1
golgi apparatus1
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

HIGD1C for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HIGD1C
Interactions:

    Search GeneGlobe Interaction Network for HIGD1C

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

Selected Interacting proteins for HIGD1C (ENSP000003814734) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
InteractantInteraction Details
GeneCardExternal ID(s)
COX5BENSP000002584244STRING: ENSP00000258424
CYC1ENSP000003171594STRING: ENSP00000317159
FIP1L1ENSP000003367524STRING: ENSP00000336752
MT-CO1ENSP000003544994STRING: ENSP00000354499
MT-CO2ENSP000003548764STRING: ENSP00000354876
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for HIGD1C (HIG1C)



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for HIGD1C gene: 
NM_001109619.1  

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000398455(uc010smw.2)
miRNA
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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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HIGD1C expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGAGTTGCTG
HIGD1C Expression
About this image

HIGD1C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HIGD1C Protein Expression
    Custom PCR Arrays for HIGD1C
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIGD1C

(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)
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This gene was present in the common ancestor of animals.

Orthologs for HIGD1C gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Higd1c1 , 5 HIG1 domain family, member 1C1, 5 84.37(n)1
82.29(a)1
  15 (56.28 cM)5
3809751  NM_001002900.11  NP_001002900.11 
 1003645425 
chicken
(Gallus gallus)
Aves HIGD1A6
Gallus gallus HIG1 hypoxia inducible domain family...
57(a)
1 ↔ 1
2(2061655-2066620)
lizard
(Anolis carolinensis)
Reptilia HIGD1C6
HIG1 hypoxia inducible domain family, member 1C
66(a)
1 ↔ 1
2(67297916-67302569)
tropical clawed frog
(Xenopus tropicalis)
Amphibia higd1c1 HIG1 hypoxia inducible domain family, member 1C 67.03(n)
56.99(a)
  496791  NM_001011329.2  NP_001011329.1 
fruit fly
(Drosophila melanogaster)
Insecta CG118256
--
30(a)
1 → many
2R(6307919-6309196)


ENSEMBL Gene Tree for HIGD1C (if available)
TreeFam Gene Tree for HIGD1C (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for HIGD1C gene
HIGD1B2  HIGD1A2  
4 SIMAP similar genes for HIGD1C using alignment to 1 protein entry:     HIG1C_HUMAN:
HIGD1A    HIGD1B    HIGD2A    HIGD2B

HIGD1C for paralogs           About GeneDecksing


Selected Pseudogenes.org Pseudogenes for HIGD1C (see all 9)
PGOHUM00000244196 PGOHUM00000244228 PGOHUM00000244233 PGOHUM00000244979 PGOHUM00000244980


(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HIGD1C (see all 412)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 12 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs353792201,2
C,F--51345784(+) GGAGAC/TTAAAG 1 -- us2k110Minor allele frequency- T:0.22NA WA CSA EA 372
rs1880528531,2
--51345803(+) CAACTA/GAATGC 1 -- us2k10--------
rs8661501,2
H--51345893(+) actggT/Ggaata 1 -- us2k17Minor allele frequency- G:0.00MN NS EA NA 606
rs1491265801,2
--51345962(+) AACACC/TGTACT 1 -- us2k10--------
rs1432477681,2
--51346001(+) ATGCAC/TACAAA 1 -- us2k10--------
rs101609411,2
C,H--51346018(+) tggaaG/Aaaaag 1 -- us2k14Minor allele frequency- A:0.00NS EA 416
rs1925128271,2
--51346105(+) GGGTAC/TCAGAC 1 -- us2k10--------
rs1853826351,2
--51346116(+) ACACAA/GTTCTT 1 -- us2k10--------
rs1879109071,2
--51346142(+) ACTTTC/TCTATA 1 -- us2k10--------
rs1172348401,2
C,F--51346403(+) CAGGGA/GCTAGC 1 -- us2k11Minor allele frequency- G:0.04NA 120

HapMap Linkage Disequilibrium report for HIGD1C (51347705 - 51364289 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for HIGD1C:    About this table    
Variant IDTypeSubtypePubMed ID
esv34039CNV Loss18971310

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing HIGD1C
DNA2.0 Custom Variant and Variant Library Synthesis for HIGD1C

(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.)
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1 disease for HIGD1C:    
About MalaCards
hypoxia


HIGD1C for disorders           About GeneDecksing

Genetic Association Database (GAD): HIGD1C

Export disorders for HIGD1C 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)
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PubMed articles for HIGD1C gene integrated from 10 sources:
(articles sorted by number of sources associating them with HIGD1C)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. (PubMed id 17554300)1, 4 (Nature 2007)
  2. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)1, 2 Scherer S.E.... Gibbs R.A. (Nature 2006)
  3. A scan for positively selected genes in the genomes of humans and chimpanzees. (PubMed id 15869325)1 Nielsen R....Cargill M. (PLoS Biol. 2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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)
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Entrez Gene: 613227 HGNC: 28044 Ensembl:ENSG00000214511 euGenes: HUgn613227 ECgene: HIGD1C
H-InvDB: HIGD1C

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for HIGD1C Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for HIGD1C gene:
Search GeneIP for patents involving HIGD1C

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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The GeneCards human gene database gene index: 1 3 5 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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