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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
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Genomic context

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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

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