PHF7
E3 ubiquitin-protein ligase PHF7
Also known as: HSPC226, NYD-SP6, PHF7_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BWX1
- Gene
- PHF7
- Ensembl
- ENSG00000010318
- Chromosome
- 3
- Canonical length
- 381 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear speckles,Golgi apparatus
OverviewNCBI Gene
Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Canonical amino-acid sequenceUniProt
381 residues, UniProt reviewed canonical sequence.
>Q9BWX1|PHF7
1 MKTVKEKKEC QRLRKSAKTR RVTQRKPSSG PVCWLCLREP GDPEKLGEFL QKDNISVHYF
61 CLILSSKLPQ RGQSNRGFHG FLPEDIKKEA ARASRKICFV CKKKGAAINC QKDQCLRNFH
121 LPCGQERGCL SQFFGEYKSF CDKHRPTQNI QHGHVGEESC ILCCEDLSQQ SVENIQSPCC
181 SQAIYHRKCI QKYAHTSAKH FFKCPQCNNR KEFPQEMLRM GIHIPDRDAA WELEPGAFSD
241 LYQRYQHCDA PICLYEQGRD SFEDEGRWCL ILCATCGSHG THRDCSSLRS NSKKWECEEC
301 SPAAATDYIP ENSGDIPCCS STFHPEEHFC RDNTLEENPG LSWTDWPEPS LLEKPESSRG
361 RRSYSWRSKG VRITNSCKKS KLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PHF7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 1,149 nTPM
Expression across tissuesHPA
Tissue
- testis: 1,149 nTPM
- parathyroid gland: 5.3 nTPM
- skin: 4.8 nTPM
- breast: 4.7 nTPM
- liver: 4.7 nTPM
- adipose tissue: 4.6 nTPM
Single-cell type
- late spermatids: 12,449 nCPM
- late primary spermatocytes: 3,497 nCPM
- early spermatids: 2,532 nCPM
- early primary spermatocytes: 681 nCPM
- sertoli cells: 62 nCPM
- differentiating spermatogonia: 57 nCPM
Immune cell
- memory B-cell: 3.4 nTPM
- T-reg: 2.5 nTPM
- eosinophil: 1.8 nTPM
- naive B-cell: 1.8 nTPM
- memory CD8 T-cell: 1.6 nTPM
- naive CD8 T-cell: 1.6 nTPM
Brain region
- cerebral cortex: 2.8 nTPM
- cerebellum: 2.4 nTPM
- pons: 2.4 nTPM
- midbrain: 2.3 nTPM
- white matter: 2.3 nTPM
- medulla oblongata: 2.2 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.68
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.14
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PHF7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PHF7 as an antibody target. Whether an autoantibody or antibody against PHF7 could matter depends on whether native PHF7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PHF7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PHF7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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