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HSFY1 heat shock transcription factor Y-linked 1 [ Homo sapiens (human) ]

Gene ID: 86614, updated on 5-Jan-2022

Summary

Official Symbol
HSFY1provided by HGNC
Official Full Name
heat shock transcription factor Y-linked 1provided by HGNC
Primary source
HGNC:HGNC:18568
See related
Ensembl:ENSG00000172468 MIM:400029
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
HSFY; HSF2L
Summary
This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 15.9) See more
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Genomic context

See HSFY1 in Genome Data Viewer
Location:
Yq11.222
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) Y NC_000024.10 (18529678..18588963)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (20708577..20750849)

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene USP9Y pseudogene 5 Neighboring gene XK related, Y-linked pseudogene 1 Neighboring gene PTPN13 like Y-linked pseudogene 5 Neighboring gene elongin C pseudogene 7 Neighboring gene USP9Y pseudogene 1 Neighboring gene glycoprotein M6B pseudogene 1 Neighboring gene AZFb P4.1 recombination region Neighboring gene OFD1 pseudogene 5 Y-linked Neighboring gene testis-specific transcript, Y-linked 9B Neighboring gene RAB9A, member RAS oncogene family pseudogene 4

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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • AC022486.1

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
heat shock transcription factor, Y-linked
Names
heat shock transcription factor 2-like protein

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.

Genomic

  1. NG_012030.1 RefSeqGene

    Range
    5004..47276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NG_004636.1 

    Range
    1030593..1072868
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_033108.3NP_149099.2  heat shock transcription factor, Y-linked isoform 1

    See identical proteins and their annotated locations for NP_149099.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1) of this protein. Isoform 1 has an HSF-type DNA-binding motif.
    Source sequence(s)
    BC036567, BX281920
    Consensus CDS
    CCDS35475.1
    UniProtKB/Swiss-Prot
    Q96LI6
    Related
    ENSP00000303599.2, ENST00000307393.3
    Conserved Domains (1) summary
    pfam00447
    Location:80194
    HSF_DNA-bind; HSF-type DNA-binding
  2. NM_152584.1NP_689797.1  heat shock transcription factor, Y-linked isoform 2

    See identical proteins and their annotated locations for NP_689797.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes a different exon in the 3' coding region, resulting in a frameshift and earlier termination codon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1. Isoform 2 lacks the HFS-type DNA-binding domain found in isoform 1.
    Source sequence(s)
    AF332226
    Consensus CDS
    CCDS14790.1
    UniProtKB/Swiss-Prot
    Q96LI6
    Related
    ENSP00000311166.4, ENST00000309834.8
    Conserved Domains (1) summary
    pfam00447
    Location:86154
    HSF_DNA-bind; HSF-type DNA-binding

RNA

  1. NR_003510.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 3' splice pattern, compared to variant 1. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the transcript is a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AJ566404
    Related
    ENST00000338876.8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p13 Primary Assembly

    Range
    18529678..18588963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017030085.2XP_016885574.1  heat shock transcription factor, Y-linked isoform X1

  2. XM_005262565.4XP_005262622.1  heat shock transcription factor, Y-linked isoform X2

    See identical proteins and their annotated locations for XP_005262622.1

    Conserved Domains (1) summary
    pfam00447
    Location:8116
    HSF_DNA-bind; HSF-type DNA-binding

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001001871.1: Suppressed sequence

    Description
    NM_001001871.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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