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

Gene ID: 51751, updated on 1-Jun-2020

Summary

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
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

Genomic context

See HIGD1B in Genome Data Viewer
Location:
17q21.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (44844281..44850480)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42923721..42927848)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase domain 11 Neighboring gene gap junction protein gamma 1 Neighboring gene elongation factor Tu GTP binding domain containing 2 Neighboring gene RNA, 7SL, cytoplasmic 405, pseudogene 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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
mitochondrial respiratory chain supercomplex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
HIG1 domain family member 1B

NCBI Reference Sequences (RefSeq)

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_001271880.2NP_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
    Q9P298
    Related
    ENSP00000468511.1, ENST00000591513.5
    Conserved Domains (1) summary
    pfam04588
    Location:2977
    HIG_1_N; Hypoxia induced protein conserved region
  2. NM_016438.4NP_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
    Q9P298
    Related
    ENSP00000253410.1, ENST00000253410.3
    Conserved Domains (1) summary
    pfam04588
    Location:2977
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    44844281..44850480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524891.2XP_011523193.1  HIG1 domain family member 1B isoform X1

    See identical proteins and their annotated locations for XP_011523193.1

    UniProtKB/Swiss-Prot
    Q9P298
    Conserved Domains (1) summary
    pfam04588
    Location:2977
    HIG_1_N; Hypoxia induced protein conserved region
  2. XM_017024743.1XP_016880232.1  HIG1 domain family member 1B isoform X1

    UniProtKB/Swiss-Prot
    Q9P298
    Conserved Domains (1) summary
    pfam04588
    Location:2977
    HIG_1_N; Hypoxia induced protein conserved region
  3. XM_006721948.3XP_006722011.1  HIG1 domain family member 1B isoform X1

    See identical proteins and their annotated locations for XP_006722011.1

    UniProtKB/Swiss-Prot
    Q9P298
    Conserved Domains (1) summary
    pfam04588
    Location:2977
    HIG_1_N; Hypoxia induced protein conserved region
  4. XM_017024742.2XP_016880231.1  HIG1 domain family member 1B isoform X1

    UniProtKB/Swiss-Prot
    Q9P298
    Conserved Domains (1) summary
    pfam04588
    Location:2977
    HIG_1_N; Hypoxia induced protein conserved region
  5. XM_006721947.4XP_006722010.1  HIG1 domain family member 1B isoform X1

    See identical proteins and their annotated locations for XP_006722010.1

    UniProtKB/Swiss-Prot
    Q9P298
    Conserved Domains (1) summary
    pfam04588
    Location:2977
    HIG_1_N; Hypoxia induced protein conserved region
  6. XM_006721946.2XP_006722009.1  HIG1 domain family member 1B isoform X1

    See identical proteins and their annotated locations for XP_006722009.1

    UniProtKB/Swiss-Prot
    Q9P298
    Conserved Domains (1) summary
    pfam04588
    Location:2977
    HIG_1_N; Hypoxia induced protein conserved region
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