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

Gene ID: 10745, updated on 22-Sep-2022

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 and endoplasmic reticulum membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 15.3), gall bladder (RPKM 3.5) and 22 other tissues See more
Orthologs
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Genomic context

See PHTF1 in Genome Data Viewer
Location:
1p13.2
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (113696831..113759888, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (113708467..113771550, complement)
105.20220307 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 MT-ND5 pseudogene 20 Neighboring gene Sharpr-MPRA regulatory region 12988 Neighboring gene ribosomal protein S2 pseudogene 14 Neighboring gene Sharpr-MPRA regulatory region 5734 Neighboring gene Sharpr-MPRA regulatory region 4295 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 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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cis-Golgi network IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 

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
    Q9H1X8, Q9UMS5
    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
    Q9H1X8, Q9UMS5
    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
    Q9H1X8, 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_001323044.2NP_001309973.1  protein PHTF1 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_001323045.2NP_001309974.1  protein PHTF1 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_001323046.2NP_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/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_001323048.2NP_001309977.1  protein PHTF1 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_001323049.2NP_001309978.1  protein PHTF1 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_001323050.2NP_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
    Q9H1X8, 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_136564.2 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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)