PFN4 profilin family member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PFN4provided by HGNC
Official Full Name: profilin family member 4provided by HGNC
Primary source: HGNC:HGNC:31103
See related: Ensembl:ENSG00000176732 MIM:620046; AllianceGenome:HGNC:31103
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
Summary: Predicted to enable actin monomer binding activity. Predicted to be involved in sequestering of actin monomers and spermatid development. Predicted to be located in cytoplasm. Predicted to be active in cell cortex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 24.5) See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (24114809..24123491, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (24149512..24158188, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (24337679..24346204, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
Porfilin 4 bound to selected phosphoinositides but not to poly-L-proline, proline-rich proteins, or actin.
Title: Testis-expressed profilins 3 and 4 show distinct functional characteristics and localize in the acroplaxome-manchette complex in spermatids.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin monomer binding	IBA Inferred from Biological aspect of Ancestor more info
enables lipid binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in acrosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in manchette assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in sequestering of actin monomers	IBA Inferred from Biological aspect of Ancestor more info
involved_in sperm flagellum assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: profilin-4

Names: profilin IV

NCBI Reference Sequences (RefSeq)

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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)

NM_199346.3 → NP_955378.1 profilin-4

See identical proteins and their annotated locations for NP_955378.1

Status: VALIDATED

Source sequence(s)

AC008073, AK292601

Consensus CDS

CCDS1709.1

UniProtKB/Swiss-Prot

Q53TL9, Q8NHR9

Related

ENSP00000322170.4, ENST00000313213.5

Conserved Domains (1) summary

cd00148
Location:14 → 129

PROF; Profilin binds actin monomers, membrane polyphosphoinositides such as PI(4,5)P2, and poly-L-proline. Profilin can inhibit actin polymerization into F-actin by binding to monomeric actin (G-actin) and terminal F-actin subunits, but - as a regulator of the ...

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

24114809..24123491 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006712007.5 → XP_006712070.1 profilin-4 isoform X1

See identical proteins and their annotated locations for XP_006712070.1

UniProtKB/Swiss-Prot

Q53TL9, Q8NHR9

Conserved Domains (1) summary

cd00148
Location:14 → 129

PROF; Profilin binds actin monomers, membrane polyphosphoinositides such as PI(4,5)P2, and poly-L-proline. Profilin can inhibit actin polymerization into F-actin by binding to monomeric actin (G-actin) and terminal F-actin subunits, but - as a regulator of the ...
XM_047444226.1 → XP_047300182.1 profilin-4 isoform X1

UniProtKB/Swiss-Prot

Q53TL9, Q8NHR9
XM_005264292.3 → XP_005264349.1 profilin-4 isoform X1

See identical proteins and their annotated locations for XP_005264349.1

UniProtKB/Swiss-Prot

Q53TL9, Q8NHR9

Conserved Domains (1) summary

cd00148
Location:14 → 129

PROF; Profilin binds actin monomers, membrane polyphosphoinositides such as PI(4,5)P2, and poly-L-proline. Profilin can inhibit actin polymerization into F-actin by binding to monomeric actin (G-actin) and terminal F-actin subunits, but - as a regulator of the ...
XM_011532823.3 → XP_011531125.1 profilin-4 isoform X1

See identical proteins and their annotated locations for XP_011531125.1

UniProtKB/Swiss-Prot

Q53TL9, Q8NHR9

Conserved Domains (1) summary

cd00148
Location:14 → 129

PROF; Profilin binds actin monomers, membrane polyphosphoinositides such as PI(4,5)P2, and poly-L-proline. Profilin can inhibit actin polymerization into F-actin by binding to monomeric actin (G-actin) and terminal F-actin subunits, but - as a regulator of the ...