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FHL5 four and a half LIM domains 5 [ Homo sapiens (human) ]

Gene ID: 9457, updated on 9-Dec-2018

Summary

Official Symbol
FHL5provided by HGNC
Official Full Name
four and a half LIM domains 5provided by HGNC
Primary source
HGNC:HGNC:17371
See related
Ensembl:ENSG00000112214 MIM:605126
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
ACT; FHL-5; dJ393D12.2; 1700027G07Rik
Summary
The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Polymorphisms in this gene may be associated with susceptibility for migraine headaches. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Apr 2016]
Expression
Broad expression in testis (RPKM 16.0), fat (RPKM 12.3) and 18 other tissues See more
Orthologs

Genomic context

See FHL5 in Genome Data Viewer
Location:
6q16.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (96562525..96618626)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (97010406..97067806)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene UFL1 antisense RNA 1 Neighboring gene UFM1 specific ligase 1 Neighboring gene RNA, U4 small nuclear 70, pseudogene Neighboring gene ribosomal protein S7 pseudogene 8

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?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.
NHGRI GWA Catalog
Genome-wide association analysis identifies susceptibility loci for migraine without aura.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of four and a half LIM domains 5 (FHL5) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33049, KIAA0776

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
four and a half LIM domains protein 5
Names
LIM protein ACT
activator of cAMP-responsive element modulator (CREM) in testis
activator of cAMP-responsive element modulator in testis

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_001170807.2NP_001164278.1  four and a half LIM domains protein 5

    See identical proteins and their annotated locations for NP_001164278.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 all encode the same protein.
    Source sequence(s)
    AK223539, AL132776, BC021723, BX118342, HY020942
    Consensus CDS
    CCDS5035.1
    UniProtKB/Swiss-Prot
    Q5TD97
    Related
    ENSP00000442357.1, ENST00000541107.5
    Conserved Domains (5) summary
    cd09343
    Location:3795
    LIM1_FHL; The first LIM domain of Four and a half LIM domains protein (FHL)
    cd09346
    Location:163214
    LIM3_FHL; The third LIM domain of Four and a half LIM domains protein (FHL)
    cd09347
    Location:222277
    LIM4_FHL; The fourth LIM domain of Four and a half LIM domains protein (FHL)
    cd09428
    Location:102155
    LIM2_FHL5; The second LIM domain of Four and a half LIM domains protein 5 (FHL5)
    cl02475
    Location:534
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  2. NM_001322466.1NP_001309395.1  four and a half LIM domains protein 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 all encode the same protein.
    Source sequence(s)
    AK223539, AL132776, BX118342, DA234984
    Consensus CDS
    CCDS5035.1
    UniProtKB/Swiss-Prot
    Q5TD97
    Conserved Domains (5) summary
    cd09343
    Location:3795
    LIM1_FHL; The first LIM domain of Four and a half LIM domains protein (FHL)
    cd09346
    Location:163214
    LIM3_FHL; The third LIM domain of Four and a half LIM domains protein (FHL)
    cd09347
    Location:222277
    LIM4_FHL; The fourth LIM domain of Four and a half LIM domains protein (FHL)
    cd09428
    Location:102155
    LIM2_FHL5; The second LIM domain of Four and a half LIM domains protein 5 (FHL5)
    cl02475
    Location:534
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  3. NM_001322467.1NP_001309396.1  four and a half LIM domains protein 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 all encode the same protein.
    Source sequence(s)
    AK223539, AL132776, BX118342, DA099831
    Consensus CDS
    CCDS5035.1
    UniProtKB/Swiss-Prot
    Q5TD97
    Conserved Domains (5) summary
    cd09343
    Location:3795
    LIM1_FHL; The first LIM domain of Four and a half LIM domains protein (FHL)
    cd09346
    Location:163214
    LIM3_FHL; The third LIM domain of Four and a half LIM domains protein (FHL)
    cd09347
    Location:222277
    LIM4_FHL; The fourth LIM domain of Four and a half LIM domains protein (FHL)
    cd09428
    Location:102155
    LIM2_FHL5; The second LIM domain of Four and a half LIM domains protein 5 (FHL5)
    cl02475
    Location:534
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
  4. NM_020482.5NP_065228.4  four and a half LIM domains protein 5

    See identical proteins and their annotated locations for NP_065228.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3 and 4 all encode the same protein.
    Source sequence(s)
    AK223539, AL132776, BX118342, HY020942
    Consensus CDS
    CCDS5035.1
    UniProtKB/Swiss-Prot
    Q5TD97
    Related
    ENSP00000326022.2, ENST00000326771.2
    Conserved Domains (5) summary
    cd09343
    Location:3795
    LIM1_FHL; The first LIM domain of Four and a half LIM domains protein (FHL)
    cd09346
    Location:163214
    LIM3_FHL; The third LIM domain of Four and a half LIM domains protein (FHL)
    cd09347
    Location:222277
    LIM4_FHL; The fourth LIM domain of Four and a half LIM domains protein (FHL)
    cd09428
    Location:102155
    LIM2_FHL5; The second LIM domain of Four and a half LIM domains protein 5 (FHL5)
    cl02475
    Location:534
    LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers

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_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    96562525..96618626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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