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HIGD1B Gene

protein-coding   GIFtS: 42
GCID: GC17P042925

HIG1 Hypoxia Inducible Domain Family, Member 1B

(Previous names: HIG1 domain family, member 1B)
  See HIGD1B-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 1B1 2
HIG1 Domain Family, Member 1B1
CLST112402
CLST11240-152
HIG1 Domain Family Member 1B2
Protein CLST 112403

External Ids:    HGNC: 243181   Entrez Gene: 517512   Ensembl: ENSG000001310977   UniProtKB: Q9P2983   

Export aliases for HIGD1B gene to outside databases

Previous GC identifers: GC17P040281 GC17P038690


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HIGD1B Gene:
This gene encodes a member of the hypoxia inducible gene 1 (HIG1) domain family. The encoded protein is localized
to the cell membrane and has been linked to tumorigenesis and the progression of pituitary adenomas. Alternative
splicing results in multiple transcript variants. (provided by RefSeq, Dec 2012)

GeneCards Summary for HIGD1B Gene:
HIGD1B (HIG1 hypoxia inducible domain family, member 1B) is a protein-coding gene. Diseases associated with HIGD1B include hypoxia. An important paralog of this gene is HIGD1A.




(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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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HIGD1B gene promoter:
         Bach1   GATA-3   Pbx1a   AML1a   AP-4   GATA-2   GATA-1   RORalpha1   Ik-2   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHIGD1B promoter sequence
   Search Chromatin IP Primers for HIGD1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HIGD1B


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

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

HIGD1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIGD1B gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P042925:  view genomic region     (about GC identifiers)

Start:
42,923,721 bp from pter      End:
42,927,848 bp from pter
Size:
4,128 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HIG1B_HUMAN, Q9P298 (See protein sequence)
Recommended Name: HIG1 domain family member 1B  
Size: 99 amino acids; 11058 Da
1 PDB 3D structure from and Proteopedia for HIGD1B:
2LON (3D)    
Secondary accessions: D3DX57 Q9P297

Explore the universe of human proteins at neXtProt for HIGD1B: NX_Q9P298

Explore proteomics data for HIGD1B at MOPED


See HIGD1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001258809.1  NP_057522.1  

ENSEMBL proteins: 
 ENSP00000468511   ENSP00000253410   ENSP00000464703   ENSP00000465657  

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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 Q9P298

ProtoNet protein and cluster: Q9P298

UniProtKB/Swiss-Prot: HIG1B_HUMAN, Q9P298
Similarity: Contains 1 HIG1 domain


Find genes that share domains with HIGD1B           About GenesLikeMe


(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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HIGD1B
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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
HIG1B_HUMAN, Q9P298: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
extracellular1
peroxisome1

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

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

Find genes that share ontologies with HIGD1B           About GenesLikeMe


(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 HIGD1B
Interactions:

    Search GeneGlobe Interaction Network for HIGD1B

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

Selected Interacting proteins for HIGD1B (Q9P2982, 3 ENSP000002534104) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
InteractantInteraction Details
GeneCardExternal ID(s)
MYZAPP0CAP12, 3MINT-65215 I2D: score=4 
POLR2MP0CAP23I2D: score=3 
COX5BENSP000002584244STRING: ENSP00000258424
CYC1ENSP000003171594STRING: ENSP00000317159
FIP1L1ENSP000003367524STRING: ENSP00000336752
About this table

(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 HIGD1B (HIG1B)



(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for HIGD1B gene (2 alternative transcripts): 
NM_001271880.1  NM_016438.3  

Unigene Cluster for HIGD1B:

HIG1 hypoxia inducible domain family, member 1B
Hs.287963  [show with all ESTs]
Unigene Representative Sequence: BG573492
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000591513 ENST00000590423 ENST00000253410(uc002ihm.3) ENST00000587021
ENST00000586911
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  QuantiFast Probe-based Assays in human, mouse, rat HIGD1B

Additional mRNA sequence: 

AB038021.1 AB038022.1 BC020667.1 NR_073504.1 

7 DOTS entries:

DT.95173168  DT.97837462  DT.91756214  DT.95211553  DT.121000908  DT.100825646  DT.91986452 

Selected AceView cDNA sequences (see all 49):

AI185719 BI711221 BC020667 BM509921 AI186316 CK822679 AI202083 BQ581678 
NM_016438 AI089011 BQ017345 AW207459 BX502825 AI863592 AB038021 BM503772 
AI140020 AI650403 AB038022 AI700607 BE465413 AA903783 AI700585 AV708469 

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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HIGD1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTAGGTGCTG
HIGD1B Expression
About this image

HIGD1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HIGD1B Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.287963
    Custom PCR Arrays for HIGD1B
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIGD1B

(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 HIGD1B gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Higd1b1 , 5 HIG1 domain family, member 1B1, 5 82.99(n)1
79.17(a)1
  11 (66.48 cM)5
756891  NM_080846.11  NP_543122.11 
 1028358495 
lizard
(Anolis carolinensis)
Reptilia HIGD1B6
HIG1 hypoxia inducible domain family, member 1B
59(a)
1 ↔ 1
6(64295621-64298521)
tropical clawed frog
(Xenopus tropicalis)
Amphibia higd1b1 HIG1 hypoxia inducible domain family, member 1B 57.8(n)
56.38(a)
  100491892  XM_002935564.2  XP_002935610.1 
fruit fly
(Drosophila melanogaster)
Insecta CG118256
--
21(a)
1 → many
2R(6307919-6309196)


ENSEMBL Gene Tree for HIGD1B (if available)
TreeFam Gene Tree for HIGD1B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for HIGD1B gene
HIGD1A2  HIGD1C2  
4 SIMAP similar genes for HIGD1B using alignment to 3 protein entries:     HIG1B_HUMAN (see all proteins):
HIGD1C    HIGD1A    HIGD2B    HIGD2A

Find genes that share paralogs with HIGD1B           About GenesLikeMe



(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 HIGD1B (see all 135)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1927992511,2
--42921864(+) TGCTGC/TGACCC 1 -- us2k10--------
rs1407813901,2
C--42921905(+) GGAGAA/GAAAAG 1 -- us2k10--------
rs782535831,2
F--42922005(+) CTGGGA/GTAGAG 1 -- us2k11Minor allele frequency- G:0.02WA 118
rs1444496251,2
--42922012(+) AGAGTA/GGGATC 1 -- us2k10--------
rs1473996681,2
--42922033(+) ACCCTA/GTCTTT 1 -- us2k10--------
rs1392259211,2
--42922083(+) AGGGTG/TCCAGG 1 -- us2k10--------
rs1499558331,2
--42922091(+) AGGATA/GTACTA 1 -- us2k10--------
rs1450512791,2
--42922135(+) GCTTCC/TGTTTA 1 -- us2k10--------
rs1847042111,2
--42922136(+) CTTCCA/GTTTAA 1 -- us2k10--------
rs1490382621,2
C--42922146(+) ACCAGA/CCCCCT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for HIGD1B (42923721 - 42927848 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for HIGD1B:    About this table    
Variant IDTypeSubtypePubMed ID
esv2715966CNV Deletion23290073

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing HIGD1B
DNA2.0 Custom Variant and Variant Library Synthesis for HIGD1B

(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.)
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1 disease for HIGD1B:    
About MalaCards
hypoxia


Find genes that share disorders with HIGD1B           About GenesLikeMe


Export disorders for HIGD1B 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 HIGD1B gene integrated from 10 sources:
(articles sorted by number of sources associating them with HIGD1B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  3. Facile backbone structure determination of human membrane proteins by NMR spectroscopy. (PubMed id 22609626)2 Klammt C.... Choe S. (Nat. Methods 2012)
  4. Analysis of differential gene expression in plurihormonal pituitary adenomas using bead-based fiber-optic arrays. (PubMed id 22588334)1 Jiang Z....Zhang Y. (J. Neurooncol. 2012)
  5. Analysis of differential gene expression by bead-based fiber-optic array in nonfunctioning pituitary adenomas. (PubMed id 21351040)1 Jiang Z....Zhang Y. (Horm. Metab. Res. 2011)
  6. Differential gene expression by fiber-optic beadarray and pathway in adrenocorticotrophin-secreting pituitary adenomas. (PubMed id 22166531)1 Jiang Z.Q....Zhang Y.Z. (Chin. Med. J. 2010)
  7. Analysis of differential gene expression by bead-based fiber-optic array in growth-hormone-secreting pituitary adenomas. (PubMed id 22993617)1 Jiang Z....Zhang Y. (Exp Ther Med 2010)
  8. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
  9. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1 Dias Neto E....Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000)
  10. (PubMed id )2 

(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: 51751 HGNC: 24318 AceView: CLST11240 Ensembl:ENSG00000131097 euGenes: HUgn51751
ECgene: HIGD1B H-InvDB: HIGD1B

(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 HIGD1B 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 HIGD1B gene:
Search GeneIP for patents involving HIGD1B

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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 , 21 Aug 2014 , 8 Sep 2014

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