SCYGR1

Summary

SCYGR1 (small cysteine and glycine repeat containing 1, HGNC:34218) is a protein-coding gene on chromosome 2q36.3, encoding Small cysteine and glycine repeat-containing protein 1 (A0A286YEY9). In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-link….

Predicted to be located in intermediate filament.

Source: NCBI Gene 112441428 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001395402

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34218
Approved symbol	SCYGR1
Name	small cysteine and glycine repeat containing 1
Location	2q36.3
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP28-1
Ensembl gene	ENSG00000284629
Ensembl biotype	protein_coding
Entrez	112441428

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641359

RefSeq mRNA: 1 — MANE Select: NM_001395402 NM_001395402

CCDS: CCDS92952

Canonical transcript exons

ENST00000641359 — 1 exons

Exon	Start	End
ENSE00003812659	227387683	227387949

Expression profiles

Bgee: expression breadth broad, 41 present calls, max score 44.17.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	44.17	gold quality
corpus callosum	UBERON:0002336	39.04	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
Ammon’s horn	UBERON:0001954	36.55	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
substantia nigra	UBERON:0002038	35.83	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
prefrontal cortex	UBERON:0000451	32.72	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
Brodmann (1909) area 9	UBERON:0013540	31.56	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
superior frontal gyrus	UBERON:0002661	30.74	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
temporal lobe	UBERON:0001871	28.99	gold quality
hypothalamus	UBERON:0001898	28.99	gold quality
amygdala	UBERON:0001876	28.94	gold quality
cerebral cortex	UBERON:0000956	28.91	gold quality
monocyte	CL:0000576	28.84	gold quality
leukocyte	CL:0000738	28.73	gold quality
frontal cortex	UBERON:0001870	28.59	gold quality
putamen	UBERON:0001874	28.55	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
caudate nucleus	UBERON:0001873	27.46	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.99

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Small cysteine and glycine repeat-containing protein 1 — A0A286YEY9 (reviewed: A0A286YEY9)

Alternative names: Keratin-associated protein 28-1

All UniProt accessions (1): A0A286YEY9

UniProt curated annotations — full annotation on UniProt →

Function. In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

Miscellaneous. Human have a similar number of genes as other primates despite the relative hairlessness of humans.

Similarity. Belongs to the KRTAP type 28 family.

RefSeq proteins (1): NP_001382331* (*=MANE)

Domains & families (InterPro)

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A286YEY9-F1	40.12	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 9 (showing top): MARTINEZ_RB1_TARGETS_DN, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, RB_P130_DN.V1_UP, GOCC_SUPRAMOLECULAR_POLYMER, MARTINEZ_RB1_AND_TP53_TARGETS_DN, chr2q36, MARTINEZ_TP53_TARGETS_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): intermediate filament (GO:0005882)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

98 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SCYGR1	KRTAP20-1	Q3LI63	874
SCYGR1	KRTAP20-2	Q3LI61	870
SCYGR1	KRTAP24-1	Q3LI83	822
SCYGR1	KRTAP15-1	Q3LI76	799
SCYGR1	KRTAP22-1	Q3MIV0	794
SCYGR1	KRTAP25-1	Q3LHN0	791
SCYGR1	KRTAP6-2	Q3LI66	790
SCYGR1	KRTAP27-1	Q3LI81	773
SCYGR1	KRTAP26-1	Q6PEX3	772
SCYGR1	KRTAP6-3	Q3LI67	772
SCYGR1	KRTAP13-3	Q3SY46	771
SCYGR1	KRTAP6-1	Q3LI64	720
SCYGR1	KRTAP8-1	Q8IUC2	720
SCYGR1	KRTAP7-1	Q8IUC3	720
SCYGR1	SCYGR7	A0A286YF01	712

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A286YEV6, A0A286YEX9, A0A286YEY9, A0A286YF01, A0A286YF46, A0A286YF60, A0A286YF77, A0A286YFB4, A0A286YFG1, O14633, P02438, P04459, P05687, P05688, P08131, P08175, P0DSO2, P20730, Q01642, Q01643, Q01644, Q01645, Q07627, Q3LI58, Q3LI59, Q3V2C1, Q5T750, Q5T752, Q5T754, Q5TA78, Q5TA79, Q5TA81, Q5TA82, Q5TCM9, Q8IUC1, Q8IUG1, Q9BQ66, Q9BYP8, Q9BYQ5, Q9BYQ6

Diamond homologs: A0A286YEV6, A0A286YEX9, A0A286YEY9, A0A286YF01, A0A286YF60, A0A286YF77, A0A286YFB4, A0A286YFG1, P0DSO2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

570 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:227387778:A:G	C58R	0.941
2:227387859:A:G	C31R	0.935
2:227387776:G:C	C58W	0.929
2:227387857:G:C	C31W	0.920
2:227387829:A:G	C41R	0.918
2:227387827:G:C	C41W	0.913
2:227387794:G:C	C52W	0.908
2:227387818:G:C	C44W	0.908
2:227387777:C:G	C58S	0.906
2:227387778:A:T	C58S	0.906
2:227387796:A:G	C52R	0.905
2:227387811:A:G	C47R	0.901
2:227387820:A:G	C44R	0.900
2:227387823:A:G	C43R	0.899
2:227387856:A:C	Y32D	0.896
2:227387799:A:G	C51R	0.894
2:227387786:G:T	P55H	0.888
2:227387858:C:G	C31S	0.888
2:227387859:A:T	C31S	0.888
2:227387821:G:C	C43W	0.879
2:227387832:A:G	C40R	0.878
2:227387852:C:G	R33P	0.874
2:227387777:C:T	C58Y	0.872
2:227387830:G:C	C40W	0.872
2:227387809:G:C	C47W	0.865
2:227387839:G:C	C37W	0.864
2:227387795:C:T	C52Y	0.860
2:227387865:A:G	C29R	0.860
2:227387806:A:C	C48W	0.858
2:227387828:C:T	C41Y	0.851

dbSNP variants (sampled 300 via entrez): RS1003840160 (2:227388887 C>T), RS1003951982 (2:227389751 A>G), RS1003983079 (2:227389457 C>A,T), RS1004939001 (2:227387920 ACCACAACCT>A,ACCACAACCTCCACAACCT), RS1004955719 (2:227388485 C>A,T), RS1004990030 (2:227388230 C>T), RS1005962206 (2:227387588 A>G), RS1007209398 (2:227387193 T>C,G), RS1009849074 (2:227387391 C>A), RS1011591026 (2:227387884 G>A), RS1013395735 (2:227387845 G>A), RS1013599453 (2:227389179 A>T), RS1014086175 (2:227388152 C>A), RS1015409875 (2:227389536 C>G,T), RS1015441252 (2:227389165 C>T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:189800

GenCC curated gene-disease

Mondo (1): preeclampsia (MONDO:0005081)

Orphanet (1): Preeclampsia (Orphanet:275555)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011225	Pre-Eclampsia	C12.050.703.395.249

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00117546	PHASE4	UNKNOWN	Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia
NCT00567957	PHASE4	UNKNOWN	Remifentanil for General Anesthesia in Preeclamptics
NCT01030627	PHASE4	COMPLETED	Treatment Approaches to Preeclampsia
NCT01352234	PHASE4	COMPLETED	Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia
NCT01361425	PHASE4	UNKNOWN	Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape)
NCT01729468	PHASE4	COMPLETED	Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers
NCT01761916	PHASE4	COMPLETED	Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure
NCT01912677	PHASE4	COMPLETED	Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy
NCT02025426	PHASE4	TERMINATED	Phenylephrine Versus Ephedrine in Pre-eclampsia
NCT02091401	PHASE4	COMPLETED	A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen
NCT02163655	PHASE4	COMPLETED	Diuretics for Postpartum High Blood Pressure in Preeclampsia
NCT02338687	PHASE4	COMPLETED	Low Dose Calcium to Prevent Preeclampsia
NCT02396030	PHASE4	TERMINATED	Different Schemes of Magnesium Sulfate for Preeclampsia
NCT02531490	PHASE4	UNKNOWN	Early Vascular Adjustments During Hypertensive Pregnancy
NCT02699827	PHASE4	COMPLETED	Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia
NCT02835339	PHASE4	COMPLETED	Magnesium Sulfate in Obese Preeclamptics
NCT02891174	PHASE4	COMPLETED	The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy
NCT02911701	PHASE4	COMPLETED	Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features
NCT03171480	PHASE4	COMPLETED	Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia
NCT03233880	PHASE4	UNKNOWN	Impact of Antichlamydial Treatment on the Rate of Preeclampsia
NCT03237000	PHASE4	UNKNOWN	Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients
NCT03506724	PHASE4	COMPLETED	Response to Anti-hypertensives in Pregnant and Postpartum Patients
NCT03674606	PHASE4	COMPLETED	Trial of Early Screening Test for Pre-eclampsia and Growth Restriction
NCT03735433	PHASE4	TERMINATED	The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia
NCT03824119	PHASE4	UNKNOWN	Postpartum NSAIDS and Maternal Hypertension
NCT04051567	PHASE4	UNKNOWN	Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies
NCT04077853	PHASE4	COMPLETED	Progesterone in Expectantly Managed Early-onset Preeclampsia
NCT04158830	PHASE4	WITHDRAWN	Aspirin (ASA) Therapy and Preeclampsia Prevention
NCT04424693	PHASE4	UNKNOWN	Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36
NCT04631627	PHASE4	UNKNOWN	Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort
NCT04656665	PHASE4	UNKNOWN	The Effectiveness of Aspirin on Preventing Pre-eclampsia
NCT04797949	PHASE4	WITHDRAWN	Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia
NCT04908982	PHASE4	UNKNOWN	Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension
NCT05221164	PHASE4	UNKNOWN	162 mg of Aspirin for Prevention of Preeclampsia
NCT05294952	PHASE4	UNKNOWN	co Ihibtory Receptor in Preeclampsia
NCT05514847	PHASE4	ACTIVE_NOT_RECRUITING	Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients
NCT05586373	PHASE4	COMPLETED	Ibuprofen vs Dipyrone After C-section in Preeclampsia
NCT06069102	PHASE4	COMPLETED	Optimal Blood Pressure Treatment Thresholds Postpartum
NCT06107335	PHASE4	NOT_YET_RECRUITING	Effect of Albumin Versus Routine Care on Hemodynamic Response and Stability in Patients With Preeclampsia Guided by a Non-invasive Hemodynamic Monitoring System During Cesarean Delivery With Spinal Anesthesia
NCT06281665	PHASE4	RECRUITING	Treatment With Aspirin After Preeclampsia: TAP Trial