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HIC1 HIC ZBTB transcriptional repressor 1 [ Homo sapiens (human) ]

Gene ID: 3090, updated on 12-Mar-2019

Summary

Official Symbol
HIC1provided by HGNC
Official Full Name
HIC ZBTB transcriptional repressor 1provided by HGNC
Primary source
HGNC:HGNC:4909
See related
Ensembl:ENSG00000177374 MIM:603825
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
hic-1; ZBTB29; ZNF901
Summary
This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010]
Expression
Broad expression in fat (RPKM 8.9), endometrium (RPKM 4.9) and 19 other tissues See more
Orthologs

Genomic context

See HIC1 in Genome Data Viewer
Location:
17p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (2055099..2059687)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1957454..1962981)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984988 Neighboring gene microRNA 132 Neighboring gene microRNA 212 Neighboring gene SMG6 nonsense mediated mRNA decay factor Neighboring gene MCUR1 pseudogene 1

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat 47-59 peptide downregulates gene expression of hypermethylated in cancer 1 (HIC1) in U-937 macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
chromatin ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
hypermethylated in cancer 1 protein
Names
hypermethylated in cancer 1
zinc finger and BTB domain-containing protein 29

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.

Genomic

  1. NG_027689.1 RefSeqGene

    Range
    5001..9589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001098202.1NP_001091672.1  hypermethylated in cancer 1 protein isoform 2

    See identical proteins and their annotated locations for NP_001091672.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate in-frame exon in the 5' coding region and uses a downstream start codon, compared to variant 1. Isoform 2 has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC090617, BQ004706
    Consensus CDS
    CCDS42229.1
    UniProtKB/Swiss-Prot
    Q14526
    Related
    ENSP00000314080.3, ENST00000322941.3
    Conserved Domains (5) summary
    sd00017
    Location:537557
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:535557
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:37152
    BTB; BTB/POZ domain
    pfam13465
    Location:577602
    zf-H2C2_2; Zinc-finger double domain
    cl26464
    Location:223325
    Atrophin-1; Atrophin-1 family
  2. NM_006497.4NP_006488.2  hypermethylated in cancer 1 protein isoform 1

    See identical proteins and their annotated locations for NP_006488.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC090617, AJ583694, BC030208, BQ004706
    Consensus CDS
    CCDS42230.1
    UniProtKB/Swiss-Prot
    Q14526
    UniProtKB/TrEMBL
    A0PJI1
    Related
    ENSP00000382742.2, ENST00000399849.4
    Conserved Domains (6) summary
    COG5048
    Location:482594
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:518538
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:516538
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:18133
    BTB; BTB/POZ domain
    pfam13465
    Location:558583
    zf-H2C2_2; Zinc-finger double domain
    cl26464
    Location:204306
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    2055099..2059687
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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