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    HIGD1B HIG1 hypoxia inducible domain family member 1B [ Homo sapiens (human) ]

    Gene ID: 51751, updated on 5-Mar-2024

    Summary

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    Official Symbol
    HIGD1Bprovided by HGNC
    Official Full Name
    HIG1 hypoxia inducible domain family member 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:24318
    See related
    Ensembl:ENSG00000131097 MIM:620420; AllianceGenome:HGNC:24318
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLST11240; CLST11240-15
    Summary
    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]
    Expression
    Biased expression in placenta (RPKM 9.3), lung (RPKM 4.3) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HIGD1B in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44844860..44850476)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45698796..45704370)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42923697..42927844)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42835997-42836548 Neighboring gene ADAM metallopeptidase domain 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42853416-42853916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42856011-42856852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8601 Neighboring gene gap junction protein gamma 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8602 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:42907313-42908286 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42908287-42909260 Neighboring gene elongation factor Tu GTP binding domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:42943931-42944112 Neighboring gene RNA, 7SL, cytoplasmic 405, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:42969539-42970081 Neighboring gene coiled-coil domain containing 103 Neighboring gene family with sequence similarity 187 member A Neighboring gene glial fibrillary acidic protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Analysis of differential gene expression by bead-based fiber-optic array in growth-hormone-secreting pituitary adenomas. Jiang Z, et al. Exp Ther Med, 2010 Sep. PMID 22993617, Free PMC Article
    2. Analysis of differential gene expression in plurihormonal pituitary adenomas using bead-based fiber-optic arrays. Jiang Z, et al. J Neurooncol, 2012 Jul. PMID 22588334
    3. Differential gene expression by fiber-optic beadarray and pathway in adrenocorticotrophin-secreting pituitary adenomas. Jiang ZQ, et al. Chin Med J (Engl), 2010 Dec. PMID 22166531
    4. Analysis of differential gene expression by bead-based fiber-optic array in nonfunctioning pituitary adenomas. Jiang Z, et al. Horm Metab Res, 2011 May. PMID 21351040
    5. HIGD‑1B inhibits hypoxia‑induced mitochondrial fragmentation by regulating OPA1 cleavage in cardiomyocytes. Pang Y, et al. Mol Med Rep, 2021 Aug. PMID 34080026, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HIGD1B inhibits hypoxiainduced mitochondrial fragmentation by regulating OPA1 cleavage in cardiomyocytes.
      Title: HIGD‑1B inhibits hypoxia‑induced mitochondrial fragmentation by regulating OPA1 cleavage in cardiomyocytes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in mitochondrial respirasome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    HIG1 domain family member 1B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001271880.2 → NP_001258809.1  HIG1 domain family member 1B

      See identical proteins and their annotated locations for NP_001258809.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC015936, BC020667, BE041447, BQ017345
      Consensus CDS
      CCDS11488.1
      UniProtKB/Swiss-Prot
      D3DX57, Q9P297, Q9P298
      Related
      ENSP00000468511.1, ENST00000591513.5
      Conserved Domains (1) summary
      pfam04588
      Location:29 → 79
      HIG_1_N; Hypoxia induced protein conserved region

    2. NM_016438.4 → NP_057522.1  HIG1 domain family member 1B

      See identical proteins and their annotated locations for NP_057522.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC015936, BC020667, BE041447, BG573492, BM503772
      Consensus CDS
      CCDS11488.1
      UniProtKB/Swiss-Prot
      D3DX57, Q9P297, Q9P298
      Related
      ENSP00000253410.1, ENST00000253410.3
      Conserved Domains (1) summary
      pfam04588
      Location:29 → 79
      HIG_1_N; Hypoxia induced protein conserved region

    RNA

    1. NR_073504.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein is very short and not supported by experimental evidence.
      Source sequence(s)
      AC015936, AW207459, BE041447, BG573492, BM503772, BM876435, BQ292861
      Related
      ENST00000587021.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      44844860..44850476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524891.3 → XP_011523193.1  HIG1 domain family member 1B isoform X1

      See identical proteins and their annotated locations for XP_011523193.1

      UniProtKB/Swiss-Prot
      D3DX57, Q9P297, Q9P298
      Conserved Domains (1) summary
      pfam04588
      Location:29 → 79
      HIG_1_N; Hypoxia induced protein conserved region

    2. XM_017024743.2 → XP_016880232.1  HIG1 domain family member 1B isoform X1

      UniProtKB/Swiss-Prot
      D3DX57, Q9P297, Q9P298
      Conserved Domains (1) summary
      pfam04588
      Location:29 → 79
      HIG_1_N; Hypoxia induced protein conserved region

    3. XM_006721948.4 → XP_006722011.1  HIG1 domain family member 1B isoform X1

      See identical proteins and their annotated locations for XP_006722011.1

      UniProtKB/Swiss-Prot
      D3DX57, Q9P297, Q9P298
      Conserved Domains (1) summary
      pfam04588
      Location:29 → 79
      HIG_1_N; Hypoxia induced protein conserved region

    4. XM_006721946.3 → XP_006722009.1  HIG1 domain family member 1B isoform X1

      See identical proteins and their annotated locations for XP_006722009.1

      UniProtKB/Swiss-Prot
      D3DX57, Q9P297, Q9P298
      Conserved Domains (1) summary
      pfam04588
      Location:29 → 79
      HIG_1_N; Hypoxia induced protein conserved region

    5. XM_017024742.3 → XP_016880231.1  HIG1 domain family member 1B isoform X1

      UniProtKB/Swiss-Prot
      D3DX57, Q9P297, Q9P298
      Conserved Domains (1) summary
      pfam04588
      Location:29 → 79
      HIG_1_N; Hypoxia induced protein conserved region

    6. XM_006721947.5 → XP_006722010.1  HIG1 domain family member 1B isoform X1

      See identical proteins and their annotated locations for XP_006722010.1

      UniProtKB/Swiss-Prot
      D3DX57, Q9P297, Q9P298
      Conserved Domains (1) summary
      pfam04588
      Location:29 → 79
      HIG_1_N; Hypoxia induced protein conserved region

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      45698796..45704370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316448.1 → XP_054172423.1  HIG1 domain family member 1B isoform X1

    2. XM_054316446.1 → XP_054172421.1  HIG1 domain family member 1B isoform X1

    3. XM_054316445.1 → XP_054172420.1  HIG1 domain family member 1B isoform X1

    4. XM_054316444.1 → XP_054172419.1  HIG1 domain family member 1B isoform X1

    5. XM_054316447.1 → XP_054172422.1  HIG1 domain family member 1B isoform X1

    6. XM_054316443.1 → XP_054172418.1  HIG1 domain family member 1B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P298.1 GenPept UniProtKB/Swiss-Prot:Q9P298

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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