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    PHTF1 putative homeodomain transcription factor 1 [ Homo sapiens (human) ]

    Gene ID: 10745, updated on 15-Jun-2019

    Summary

    Official Symbol
    PHTF1provided by HGNC
    Official Full Name
    putative homeodomain transcription factor 1provided by HGNC
    Primary source
    HGNC:HGNC:8939
    See related
    Ensembl:ENSG00000116793 MIM:604950
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PHTF
    Expression
    Broad expression in testis (RPKM 15.3), gall bladder (RPKM 3.5) and 22 other tissues See more
    Orthologs

    Genomic context

    See PHTF1 in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (113697202..113759888, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (114239824..114302165, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene membrane associated guanylate kinase, WW and PDZ domain containing 3 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene Neighboring gene MT-ND5 pseudogene 20 Neighboring gene ribosomal protein S2 pseudogene 14 Neighboring gene round spermatid basic protein 1 Neighboring gene AP4B1 antisense RNA 1 Neighboring gene protein tyrosine phosphatase non-receptor type 22

    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
    Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
    NHGRI GWA Catalog
    Genetic variants associated with disordered eating.
    NHGRI GWA Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
    NHGRI GWA Catalog
    Novel associations for hypothyroidism include known autoimmune risk loci.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cis-Golgi network IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    putative homeodomain transcription factor 1

    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_001323041.1NP_001309970.1  putative homeodomain transcription factor 1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Consensus CDS
      CCDS861.1
      UniProtKB/Swiss-Prot
      Q9UMS5
      Conserved Domains (1) summary
      pfam12129
      Location:5149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    2. NM_001323042.1NP_001309971.1  putative homeodomain transcription factor 1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Consensus CDS
      CCDS861.1
      UniProtKB/Swiss-Prot
      Q9UMS5
      Conserved Domains (1) summary
      pfam12129
      Location:5149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    3. NM_001323043.2NP_001309972.1  putative homeodomain transcription factor 1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Consensus CDS
      CCDS861.1
      UniProtKB/Swiss-Prot
      Q9UMS5
      Related
      ENSP00000358617.1, ENST00000369604.6
      Conserved Domains (1) summary
      pfam12129
      Location:5149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    4. NM_001323044.1NP_001309973.1  putative homeodomain transcription factor 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Conserved Domains (1) summary
      pfam12129
      Location:1107
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    5. NM_001323045.1NP_001309974.1  putative homeodomain transcription factor 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Conserved Domains (1) summary
      pfam12129
      Location:1107
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    6. NM_001323046.1NP_001309975.1  putative homeodomain transcription factor 1 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
    7. NM_001323047.1NP_001309976.1  putative homeodomain transcription factor 1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Consensus CDS
      CCDS81359.1
      UniProtKB/Swiss-Prot
      Q9UMS5
      Related
      ENSP00000350428.2, ENST00000357783.6
      Conserved Domains (1) summary
      pfam12129
      Location:6149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    8. NM_001323048.1NP_001309977.1  putative homeodomain transcription factor 1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Consensus CDS
      CCDS81359.1
      UniProtKB/Swiss-Prot
      Q9UMS5
      Conserved Domains (1) summary
      pfam12129
      Location:6149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    9. NM_001323049.1NP_001309978.1  putative homeodomain transcription factor 1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Consensus CDS
      CCDS81359.1
      UniProtKB/Swiss-Prot
      Q9UMS5
      Conserved Domains (1) summary
      pfam12129
      Location:6149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    10. NM_001323050.1NP_001309979.1  putative homeodomain transcription factor 1 isoform e

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
    11. NM_001323051.2NP_001309980.1  putative homeodomain transcription factor 1 isoform f

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
    12. NM_001323052.2NP_001309981.1  putative homeodomain transcription factor 1 isoform g

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Conserved Domains (1) summary
      pfam12129
      Location:5149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    13. NM_001323053.2NP_001309982.1  putative homeodomain transcription factor 1 isoform g

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Conserved Domains (1) summary
      pfam12129
      Location:5149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    14. NM_006608.2NP_006599.2  putative homeodomain transcription factor 1 isoform a

      See identical proteins and their annotated locations for NP_006599.2

      Status: VALIDATED

      Source sequence(s)
      AJ011863, AK126773, BC002447, CX763183, DA728266, DB457884
      Consensus CDS
      CCDS861.1
      UniProtKB/Swiss-Prot
      Q9UMS5
      Related
      ENSP00000377025.2, ENST00000393357.6
      Conserved Domains (1) summary
      pfam12129
      Location:5149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor

    RNA

    1. NR_136564.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
    2. NR_136565.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
    3. NR_136566.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
    4. NR_136567.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
    5. NR_136568.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321

    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.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      113696831..113759888 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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