U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 10745, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:8939
    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
    Summary
    Predicted to be located in cis-Golgi network membrane and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 15.3), gall bladder (RPKM 3.5) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PHTF1 in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (113696831..113759888, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (113708467..113771550, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (114239453..114302510, 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 Sharpr-MPRA regulatory region 10793 Neighboring gene MT-ND5 pseudogene 20 Neighboring gene NANOG hESC enhancer GRCh37_chr1:114181286-114181787 Neighboring gene Sharpr-MPRA regulatory region 12988 Neighboring gene NANOG hESC enhancer GRCh37_chr1:114223507-114224045 Neighboring gene ribosomal protein S2 pseudogene 14 Neighboring gene Sharpr-MPRA regulatory region 5734 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:114295082-114295283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:114299147-114299702 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1215 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:114301981-114302560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1216 Neighboring gene Sharpr-MPRA regulatory region 4295 Neighboring gene round spermatid basic protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:114353909-114354438 Neighboring gene NANOG-H3K27ac hESC enhancers GRCh37_chr1:114354439-114354968 and GRCh37_chr1:114354969-114355498 Neighboring gene AP4B1 antisense RNA 1 Neighboring gene protein tyrosine phosphatase non-receptor type 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1538

    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?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001323041.2NP_001309970.1  protein PHTF1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Consensus CDS
      CCDS861.1
      UniProtKB/Swiss-Prot
      Q5VWP7, Q5VWP8, Q9BUP2, Q9H1X8, Q9UMS5
      UniProtKB/TrEMBL
      Q5TCQ5
      Conserved Domains (1) summary
      pfam12129
      Location:5149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    2. NM_001323042.2NP_001309971.1  protein PHTF1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Consensus CDS
      CCDS861.1
      UniProtKB/Swiss-Prot
      Q5VWP7, Q5VWP8, Q9BUP2, Q9H1X8, Q9UMS5
      UniProtKB/TrEMBL
      Q5TCQ5
      Conserved Domains (1) summary
      pfam12129
      Location:5149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    3. NM_001323043.2NP_001309972.1  protein PHTF1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Consensus CDS
      CCDS861.1
      UniProtKB/Swiss-Prot
      Q5VWP7, Q5VWP8, Q9BUP2, Q9H1X8, Q9UMS5
      UniProtKB/TrEMBL
      Q5TCQ5
      Related
      ENSP00000358617.1, ENST00000369604.6
      Conserved Domains (1) summary
      pfam12129
      Location:5149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    4. NM_001323044.2NP_001309973.1  protein PHTF1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      UniProtKB/TrEMBL
      Q5TCQ5
      Conserved Domains (1) summary
      pfam12129
      Location:1107
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    5. NM_001323045.2NP_001309974.1  protein PHTF1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      UniProtKB/TrEMBL
      Q5TCQ5
      Conserved Domains (1) summary
      pfam12129
      Location:1107
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    6. NM_001323046.2NP_001309975.1  protein PHTF1 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
    7. NM_001323047.2NP_001309976.1  protein PHTF1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Consensus CDS
      CCDS81359.1
      UniProtKB/TrEMBL
      Q5TCQ5
      Related
      ENSP00000350428.2, ENST00000357783.6
      Conserved Domains (1) summary
      pfam12129
      Location:6149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    8. NM_001323048.2NP_001309977.1  protein PHTF1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Consensus CDS
      CCDS81359.1
      UniProtKB/TrEMBL
      Q5TCQ5
      Conserved Domains (1) summary
      pfam12129
      Location:6149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    9. NM_001323049.2NP_001309978.1  protein PHTF1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
      Consensus CDS
      CCDS81359.1
      UniProtKB/TrEMBL
      Q5TCQ5
      Conserved Domains (1) summary
      pfam12129
      Location:6149
      Phtf-FEM1B_bdg; Male germ-cell putative homeodomain transcription factor
    10. NM_001323050.2NP_001309979.1  protein PHTF1 isoform e

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
    11. NM_001323051.2NP_001309980.1  protein PHTF1 isoform f

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
    12. NM_001323052.2NP_001309981.1  protein PHTF1 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  protein PHTF1 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_006608.3NP_006599.2  protein PHTF1 isoform a

      See identical proteins and their annotated locations for NP_006599.2

      Status: VALIDATED

      Source sequence(s)
      AJ011863, AK126773, AL133517, AL365321, BC002447, CX763183, DA728266, DB457884
      Consensus CDS
      CCDS861.1
      UniProtKB/Swiss-Prot
      Q5VWP7, Q5VWP8, Q9BUP2, Q9H1X8, Q9UMS5
      UniProtKB/TrEMBL
      Q5TCQ5
      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_136564.2 RNA Sequence

      Status: VALIDATED

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

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
    3. NR_136566.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
    4. NR_136567.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321
    5. NR_136568.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133517, AL365321

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      113708467..113771550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)