MRFAP1L1

Summary

MRFAP1L1 (Morf4 family associated protein 1 like 1, HGNC:28796) is a protein-coding gene on chromosome 4p16.1, encoding MORF4 family-associated protein 1-like 1 (Q96HT8).

Enables identical protein binding activity.

Source: NCBI Gene 114932 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_203462

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28796
Approved symbol	MRFAP1L1
Name	Morf4 family associated protein 1 like 1
Location	4p16.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC9651
Ensembl gene	ENSG00000178988
Ensembl biotype	protein_coding
Entrez	114932

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron

ENST00000320848, ENST00000500563, ENST00000906128, ENST00000906129, ENST00000933030

RefSeq mRNA: 1 — MANE Select: NM_203462 NM_203462

CCDS: CCDS3392

Canonical transcript exons

ENST00000320848 — 2 exons

Exon	Start	End
ENSE00001281212	6707701	6708643
ENSE00001415694	6709231	6709865

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 98.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.6623 / max 717.6807, expressed in 1801 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51269	33.6623	1801

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	98.04	gold quality
calcaneal tendon	UBERON:0003701	97.53	gold quality
ganglionic eminence	UBERON:0004023	97.10	gold quality
pons	UBERON:0000988	96.74	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.68	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.66	gold quality
prefrontal cortex	UBERON:0000451	96.64	gold quality
hypothalamus	UBERON:0001898	96.63	gold quality
cerebellar vermis	UBERON:0004720	96.63	gold quality
tendon	UBERON:0000043	96.57	gold quality
caudate nucleus	UBERON:0001873	96.54	gold quality
medial globus pallidus	UBERON:0002477	96.54	gold quality
nucleus accumbens	UBERON:0001882	96.51	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.38	gold quality
putamen	UBERON:0001874	96.36	gold quality
amygdala	UBERON:0001876	96.35	gold quality
globus pallidus	UBERON:0001875	96.33	gold quality
cerebellar cortex	UBERON:0002129	96.32	gold quality
cerebellum	UBERON:0002037	96.31	gold quality
cerebellar hemisphere	UBERON:0002245	96.30	gold quality
cingulate cortex	UBERON:0003027	96.25	gold quality
anterior cingulate cortex	UBERON:0009835	96.22	gold quality
right frontal lobe	UBERON:0002810	96.14	gold quality
spinal cord	UBERON:0002240	96.10	gold quality
palpebral conjunctiva	UBERON:0001812	96.08	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.08	gold quality
telencephalon	UBERON:0001893	96.01	gold quality
ventricular zone	UBERON:0003053	95.99	gold quality
brain	UBERON:0000955	95.98	gold quality
central nervous system	UBERON:0001017	95.98	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6075	no	768.47
E-MTAB-6142	no	214.55
E-CURD-112	no	2.79
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mrfap1	ENSMUSG00000055302

Paralogs (2): MRFAP1L2 (ENSG00000170846), MRFAP1 (ENSG00000179010)

Protein

Protein identifiers

MORF4 family-associated protein 1-like 1 — Q96HT8 (reviewed: Q96HT8)

All UniProt accessions (2): Q96HT8, A0A075DDR2

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the MORF4 family-associated protein family.

RefSeq proteins (1): NP_982287* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029254	MRFAP1	Family

Pfam: PF15155

UniProt features (3 total): chain 1, coiled-coil region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96HT8-F1	83.07	0.43

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 85 (showing top): WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, GENTILE_UV_HIGH_DOSE_DN, chr4p16, GENTILE_UV_RESPONSE_CLUSTER_D5, SCHLOSSER_SERUM_RESPONSE_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, RIGGINS_TAMOXIFEN_RESISTANCE_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, FORTSCHEGGER_PHF8_TARGETS_DN, SHEN_SMARCA2_TARGETS_UP, GUCY1B1_TARGET_GENES, KAT2A_TARGET_GENES, KAT5_TARGET_GENES, TASOR_TARGET_GENES, ZNF175_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	1
binding	1

Protein interactions and networks

STRING

494 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRFAP1L1	TSNAX	Q99598	596
MRFAP1L1	MAGEB10	Q96LZ2	505
MRFAP1L1	GOLGA8K	D6RF30	447
MRFAP1L1	CT45A2	Q5DJT8	432
MRFAP1L1	CACFD1	Q9UGQ2	427
MRFAP1L1	GOLGA8T	H3BQL2	405
MRFAP1L1	RETREG3	Q86VR2	402
MRFAP1L1	XAGE3	Q8WTP9	391
MRFAP1L1	FAM163A	Q96GL9	378
MRFAP1L1	C1orf35	Q9BU76	376
MRFAP1L1	ODF2L	Q9ULJ1	370
MRFAP1L1	ZNF175	Q9Y473	368
MRFAP1L1	SMIM14	Q96QK8	367
MRFAP1L1	SIRAL2	Q9NWS6	356
MRFAP1L1	MINDY2	Q8NBR6	355

IntAct

322 interactions, top by confidence:

A	B	Type	Score
MRFAP1L1	MORF4L1	psi-mi:“MI:0915”(physical association)	0.900
MORF4L1	MRFAP1L1	psi-mi:“MI:0915”(physical association)	0.900
MORF4L1	MRFAP1L1	psi-mi:“MI:0407”(direct interaction)	0.900
MRFAP1	MRFAP1L1	psi-mi:“MI:0915”(physical association)	0.870
MRFAP1L1	MRFAP1	psi-mi:“MI:0915”(physical association)	0.870
BYSL	MRFAP1L1	psi-mi:“MI:0915”(physical association)	0.840
MRFAP1L1	BYSL	psi-mi:“MI:0915”(physical association)	0.840

BioGRID (157): MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid), MRFAP1L1 (Two-hybrid)

ESM2 similar proteins: A0A346LU63, A1SSV2, B8YB65, O06637, O28053, O28257, O28409, O29015, O29215, O29321, O29469, O30189, O31893, O66423, O66435, O67784, O67844, P17171, P39101, Q2Y2M5, Q3V4Q8, Q3V4U9, Q3V4V5, Q4JAJ6, Q4JB44, Q57694, Q57780, Q58013, Q58266, Q58305, Q58551, Q58858, Q58934, Q5RC01, Q60347, Q68Y31, Q70LE4, Q8QL44, Q8RAH3, Q8SVP2

Diamond homologs: B2RBV5, Q3ZC61, Q5M820, Q5RC01, Q96HT8, Q9CQL7, Q9Y605

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

2 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

204 predictions. Top by Δscore:

Variant	Effect	Δscore
4:6708296:G:C	acceptor_gain	0.9900
4:6708302:C:CT	acceptor_gain	0.9900
4:6708303:A:T	acceptor_gain	0.9900
4:6708302:C:T	acceptor_gain	0.9600
4:6709242:T:TA	donor_gain	0.9100
4:6709230:C:CT	donor_gain	0.9000
4:6708549:A:C	acceptor_gain	0.8800
4:6709151:A:C	donor_gain	0.8700
4:6708352:A:T	acceptor_gain	0.8500
4:6709230:CCA:C	donor_gain	0.8400
4:6709231:C:CT	donor_gain	0.8200
4:6708296:G:GC	acceptor_gain	0.7900
4:6709227:TTACC:T	donor_gain	0.7700
4:6709228:TACC:T	donor_gain	0.7400
4:6709229:ACCA:A	donor_gain	0.7400
4:6709223:G:T	donor_gain	0.7300
4:6708360:A:T	acceptor_gain	0.7100
4:6708368:A:T	acceptor_gain	0.7100
4:6708318:C:CT	acceptor_gain	0.6800
4:6708639:TGAAC:T	acceptor_loss	0.6700
4:6708640:GAACC:G	acceptor_loss	0.6700
4:6708641:AACC:A	acceptor_loss	0.6700
4:6708644:CTAAA:C	acceptor_loss	0.6700
4:6708645:T:A	acceptor_loss	0.6700
4:6708652:C:CT	acceptor_loss	0.6700
4:6708653:A:T	acceptor_loss	0.6700
4:6708654:A:AC	acceptor_loss	0.6600
4:6708655:T:TC	acceptor_loss	0.6600
4:6709258:G:A	donor_gain	0.6600
4:6708646:A:C	acceptor_loss	0.6500

AlphaMissense

843 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:6709448:T:A	D61V	0.997
4:6709439:A:G	L64P	0.994
4:6709439:A:T	L64H	0.994
4:6709448:T:G	D61A	0.992
4:6709299:C:G	A111P	0.991
4:6709449:C:G	D61H	0.991
4:6709550:A:G	F27S	0.991
4:6709449:C:A	D61Y	0.990
4:6709280:A:G	L117P	0.989
4:6709549:G:C	F27L	0.987
4:6709549:G:T	F27L	0.987
4:6709551:A:G	F27L	0.987
4:6709517:T:A	D38V	0.986
4:6709322:T:A	K103I	0.985
4:6709413:C:G	A73P	0.984
4:6709427:T:A	K68I	0.984
4:6709547:A:G	L28P	0.984
4:6709547:A:T	L28Q	0.982
4:6709289:A:G	L114P	0.981
4:6709517:T:G	D38A	0.979
4:6709421:T:G	Q70P	0.978
4:6709535:A:T	I32N	0.978
4:6709559:A:G	F24S	0.978
4:6709518:C:G	D38H	0.977
4:6709439:A:C	L64R	0.976
4:6709462:C:A	K56N	0.976
4:6709462:C:G	K56N	0.976
4:6709535:A:C	I32S	0.976
4:6709410:A:G	S74P	0.975
4:6709451:A:C	M60R	0.975

dbSNP variants (sampled 300 via entrez): RS1000413906 (4:6707635 C>A,G,T), RS1000612794 (4:6708736 A>G), RS1000771655 (4:6709020 G>A,T), RS1000990603 (4:6708899 A>C,G), RS1001167363 (4:6707738 G>A), RS1001593032 (4:6710031 C>A,G,T), RS1001770599 (4:6710333 C>G), RS1003422096 (4:6707431 C>G,T), RS1003479785 (4:6707286 C>G,T), RS1003741082 (4:6710347 C>G), RS1004508071 (4:6709591 C>T), RS1004831874 (4:6708537 G>A,C), RS1004858362 (4:6709816 G>A,C), RS1005248336 (4:6710633 A>C,G), RS1005436022 (4:6709829 T>C,G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
dicrotophos	decreases expression	1
arsenite	increases methylation	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
MT19c compound	increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Doxorubicin	increases expression	1
Lipopolysaccharides	affects expression, affects response to substance	1
Thiram	decreases expression	1
Valproic Acid	decreases methylation	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.