MRFAP1 Morf4 family associated protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MRFAP1provided by HGNC
Official Full Name: Morf4 family associated protein 1provided by HGNC
Primary source: HGNC:HGNC:24549
See related: Ensembl:ENSG00000179010 MIM:616905; AllianceGenome:HGNC:24549
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PGR1; PAM14
Summary: This gene encodes an intracellular protein that interacts with members of the MORF4/MRG (mortality factor on chromosome 4/MORF4 related gene) family and the tumor suppressor Rb (retinoblastoma protein.) The protein may play a role in senescence, cell growth and immortalization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Expression: Ubiquitous expression in brain (RPKM 146.3), adrenal (RPKM 117.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p16.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (6640685..6642729)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (6617045..6619089)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (6642412..6644456)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

The results suggest that nucleus-localized Sedlin may play a role in regulation of transcriptional activities of the MRG family of transcription factors via binding to PAM14.
Title: Interaction of Sedlin with PAM14.
identify MRG15 residues that form a shallow hydrophobic pocket to interact with the N-terminal 50 residues of PAM14 through primarily hydrophobic interactions.
Title: The MRG domain of human MRG15 uses a shallow hydrophobic pocket to interact with the N-terminal region of PAM14.

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-24755 (e-PCR)
- UniSTS:32552

SHGC-59176 (e-PCR)
- UniSTS:23352

DXS6765 (e-PCR)
- UniSTS:149832

SHGC-67772 (e-PCR)
- UniSTS:86610

G32212 (e-PCR)
- UniSTS:116819

A005A19 (e-PCR)
- UniSTS:67944

SHGC-68198 (e-PCR)
- UniSTS:49332

SHGC-59806 (e-PCR)
- UniSTS:72185

Homology

Homologs of the MRFAP1 gene: The MRFAP1 gene is conserved in Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 91 organisms have orthologs with human gene MRFAP1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: MORF4 family-associated protein 1

Names: Mof4 family associated protein 1; T-cell activation protein; protein associated with MRG of 14 kDa

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_001272053.2 → NP_001258982.1 MORF4 family-associated protein 1 isoform a

See identical proteins and their annotated locations for NP_001258982.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode isoform a.

Source sequence(s)

AK123360, BG255189

Consensus CDS

CCDS3389.1

UniProtKB/Swiss-Prot

D3DVT3, Q9Y605

Related

ENSP00000318352.4, ENST00000320912.8

Conserved Domains (1) summary

pfam15155
Location:1 → 127

MRFAP1; MORF4 family-associated protein1
NM_033296.3 → NP_150638.1 MORF4 family-associated protein 1 isoform a

See identical proteins and their annotated locations for NP_150638.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode isoform a.

Source sequence(s)

AK074496, AK123360, BG255189

Consensus CDS

CCDS3389.1

UniProtKB/Swiss-Prot

D3DVT3, Q9Y605

UniProtKB/TrEMBL

B3KQA0

Related

ENSP00000372024.4, ENST00000382581.5

Conserved Domains (1) summary

pfam15155
Location:1 → 127

MRFAP1; MORF4 family-associated protein1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

6640685..6642729

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

6617045..6619089

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001272054.1: Suppressed sequence

Description

NM_001272054.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.