GTSF1L

Summary

GTSF1L (gametocyte specific factor 1 like, HGNC:16198) is a protein-coding gene on chromosome 20q13.12, encoding Gametocyte-specific factor 1-like (Q9H1H1).

Predicted to enable zinc ion binding activity.

Source: NCBI Gene 149699 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 22 total
• MANE Select transcript: NM_176791

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16198
Approved symbol	GTSF1L
Name	gametocyte specific factor 1 like
Location	20q13.12
Locus type	gene with protein product
Status	Approved
Aliases	dJ1028D15.4
Ensembl gene	ENSG00000124196
Ensembl biotype	protein_coding
Entrez	149699

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000373003, ENST00000373005

RefSeq mRNA: 2 — MANE Select: NM_176791 NM_001008901, NM_176791

CCDS: CCDS13323, CCDS33471

Canonical transcript exons

ENST00000373003 — 1 exons

Exon	Start	End
ENSE00001459278	43726164	43727002

Expression profiles

Bgee: expression breadth ubiquitous, 114 present calls, max score 98.34.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4972 / max 440.2589, expressed in 10 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187304	0.3638	9
187305	0.1148	3
209117	0.0187	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	98.34	gold quality
left testis	UBERON:0004533	97.69	gold quality
right testis	UBERON:0004534	97.69	gold quality
adult organism	UBERON:0007023	95.98	gold quality
testis	UBERON:0000473	95.07	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.63	gold quality
kidney epithelium	UBERON:0004819	88.73	gold quality
vena cava	UBERON:0004087	83.38	silver quality
superficial temporal artery	UBERON:0001614	82.07	silver quality
nasal cavity epithelium	UBERON:0005384	80.72	gold quality
upper arm skin	UBERON:0004263	80.68	gold quality
epithelial cell of pancreas	CL:0000083	80.40	gold quality
tendon of biceps brachii	UBERON:0008188	80.28	silver quality
cerebellar vermis	UBERON:0004720	79.10	silver quality
lower lobe of lung	UBERON:0008949	78.70	silver quality
gingival epithelium	UBERON:0001949	77.15	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	76.22	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	75.86	silver quality
epithelium of mammary gland	UBERON:0003244	74.78	gold quality
biceps brachii	UBERON:0001507	74.66	silver quality
mammary duct	UBERON:0001765	74.65	gold quality
epithelium of nasopharynx	UBERON:0001951	73.93	silver quality
gingiva	UBERON:0001828	73.36	silver quality
oocyte	CL:0000023	73.29	silver quality
mucosa of paranasal sinus	UBERON:0005030	72.93	silver quality
lateral nuclear group of thalamus	UBERON:0002736	72.87	gold quality
pharyngeal mucosa	UBERON:0000355	72.31	silver quality
cardia of stomach	UBERON:0001162	72.18	silver quality
trachea	UBERON:0003126	71.53	gold quality
superior surface of tongue	UBERON:0007371	71.30	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	2074.49
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gtsf1	ENSDARG00000000887
danio_rerio		ENSDARG00000099586
mus_musculus	Gtsf1l	ENSMUSG00000070708
rattus_norvegicus	Gtsf1l	ENSRNOG00000069924
drosophila_melanogaster	arx	FBGN0036826

Paralogs (2): SNRNP48 (ENSG00000168566), GTSF1 (ENSG00000170627)

Protein

Protein identifiers

Gametocyte-specific factor 1-like — Q9H1H1 (reviewed: Q9H1H1)

Alternative names: Protein FAM112A

All UniProt accessions (1): Q9H1H1

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the UPF0224 (FAM112) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H1H1-1	1	yes
Q9H1H1-2	2

RefSeq proteins (2): NP_001008901, NP_789761* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022776	TRM13/UPF0224_CHHC_Znf_dom	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR051591	UPF0224_FAM112_RNA_Proc	Family

Pfam: PF05253

UniProt features (15 total): binding site 8, zinc finger region 2, chain 1, splice variant 1, sequence variant 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H1H1-F1	75.73	0.43

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (8): 49; 59; 63; 9; 15; 25; 29; 43

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 27 (showing top): FOSTER_KDM1A_TARGETS_UP, GOMF_PROTEIN_CONTAINING_COMPLEX_BINDING, TFEB_TARGET_GENES, GSE10239_MEMORY_VS_KLRG1HIGH_EFF_CD8_TCELL_UP, GSE10147_IL3_AND_HIVP17_VS_IL3_AND_CPG_STIM_PDC_UP, GSE15324_ELF4_KO_VS_WT_ACTIVATED_CD8_TCELL_DN, OUILLETTE_CLL_13Q14_DELETION_DN, GSE17721_PAM3CSK4_VS_CPG_0.5H_BMDC_DN, GSE17721_PAM3CSK4_VS_CPG_24H_BMDC_UP, GSE17721_CPG_VS_GARDIQUIMOD_0.5H_BMDC_UP, SYATTGTG_UNKNOWN, NOTCH3_TARGET_GENES, GSE17721_4_VS_24H_CPG_BMDC_UP, GSE17974_CTRL_VS_ACT_IL4_AND_ANTI_IL12_0.5H_CD4_TCELL_UP, GSE9946_IMMATURE_VS_PROSTAGLANDINE2_TREATED_MATURE_DC_DN

GO Biological Process (0):

GO Molecular Function (4): zinc ion binding (GO:0008270), protein-containing complex binding (GO:0044877), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
transition metal ion binding	1
cation binding	1

Protein interactions and networks

STRING

414 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GTSF1L	TMEM225	Q6GV28	641
GTSF1L	TMEM270	Q6UE05	572
GTSF1L	GARIN1B	Q96KD3	505
GTSF1L	C5orf58	C9J3I9	503
GTSF1L	FAM151B	Q6UXP7	490
GTSF1L	HEATR9	A2RTY3	476
GTSF1L	FSCN3	Q9NQT6	472
GTSF1L	SPATS1	Q496A3	471
GTSF1L	TDRD1	Q9BXT4	458
GTSF1L	SPATA3	Q8NHX4	448
GTSF1L	RSPRY1	Q96DX4	437
GTSF1L	SPACA4	Q8TDM5	431
GTSF1L	SNRNP48	Q6IEG0	407
GTSF1L	FAM25A	B3EWG3	400
GTSF1L	ARMC1	Q9NVT9	398

IntAct

8 interactions, top by confidence:

A	B	Type	Score
GSC2	GTSF1L	psi-mi:“MI:0915”(physical association)	0.560
GTSF1L	HELLS	psi-mi:“MI:0915”(physical association)	0.560
GTSF1L	VPS26B	psi-mi:“MI:0914”(association)	0.350
GTSF1L	GSC2	psi-mi:“MI:0915”(physical association)	0.000
HELLS	GTSF1L	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): GTSF1L (Two-hybrid), GTSF1L (Two-hybrid), VPS26B (Affinity Capture-MS), THUMPD3 (Affinity Capture-MS), WDR54 (Affinity Capture-MS), PRUNE (Affinity Capture-MS)

ESM2 similar proteins: A0JMR6, A4IIA7, A5WW08, O60934, P14629, P55265, P79457, Q13434, Q149N8, Q2YDS5, Q3B7T1, Q3KQ71, Q3SZU0, Q3T026, Q3UDK1, Q4R8M9, Q4VBT5, Q561R3, Q5FWP4, Q5R4U2, Q5RCV3, Q5RGA4, Q5RL73, Q5VVJ2, Q66J91, Q69Z66, Q6A098, Q6IEG0, Q6P256, Q6PFK1, Q7TN31, Q7ZZ00, Q8JFF3, Q8K2X2, Q8N302, Q8S4P6, Q8WW33, Q93073, Q96T68, Q99MM4

Diamond homologs: Q3T026, Q9CWD0, Q9H1H1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

223 predictions. Top by Δscore:

Variant	Effect	Δscore
20:43726456:A:AC	donor_gain	0.9500
20:43726457:C:CC	donor_gain	0.9500
20:43726460:T:A	donor_gain	0.7800
20:43726358:G:A	donor_gain	0.7400
20:43726457:CTTT:C	donor_gain	0.7300
20:43726721:A:AC	donor_gain	0.7300
20:43726722:C:CC	donor_gain	0.7300
20:43726486:T:TA	donor_gain	0.7200
20:43726518:ATGTT:A	donor_gain	0.7000
20:43726323:C:CC	acceptor_gain	0.6900
20:43726522:T:TA	donor_gain	0.6900
20:43726382:T:A	donor_gain	0.6300
20:43726319:CAAC:C	acceptor_gain	0.6100
20:43726368:AGCG:A	donor_gain	0.6100
20:43726418:G:A	donor_gain	0.6000
20:43726717:T:TA	donor_gain	0.6000
20:43726984:A:AC	donor_gain	0.6000
20:43726985:C:CC	donor_gain	0.6000
20:43726321:ACC:A	acceptor_loss	0.5800
20:43726322:CCT:C	acceptor_loss	0.5800
20:43726326:T:TC	acceptor_gain	0.5800
20:43726477:T:TA	donor_gain	0.5800
20:43726544:C:CT	donor_gain	0.5800
20:43726722:CTG:C	donor_gain	0.5700
20:43726355:CATG:C	donor_gain	0.5600
20:43726496:T:A	donor_gain	0.5600
20:43726510:ACAG:A	donor_gain	0.5600
20:43726511:CAGC:C	donor_gain	0.5600
20:43726369:G:C	donor_gain	0.5500
20:43726443:A:C	donor_gain	0.5500

AlphaMissense

988 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:43726548:G:C	H49Q	0.982
20:43726548:G:T	H49Q	0.982
20:43726620:G:C	H25Q	0.980
20:43726620:G:T	H25Q	0.980
20:43726622:G:C	H25D	0.980
20:43726652:G:C	H15D	0.979
20:43726574:C:G	A41P	0.976
20:43726670:A:G	C9R	0.975
20:43726650:G:C	H15Q	0.971
20:43726650:G:T	H15Q	0.971
20:43726561:T:G	Y45S	0.966
20:43726609:C:G	C29S	0.966
20:43726610:A:T	C29S	0.966
20:43726568:A:G	C43R	0.965
20:43726622:G:T	H25N	0.964
20:43726557:G:C	N46K	0.960
20:43726557:G:T	N46K	0.960
20:43726632:T:A	R21S	0.958
20:43726632:T:G	R21S	0.958
20:43726562:A:C	Y45D	0.957
20:43726567:C:G	C43S	0.955
20:43726568:A:T	C43S	0.955
20:43726652:G:T	H15N	0.954
20:43726669:C:G	C9S	0.952
20:43726670:A:T	C9S	0.952
20:43726518:A:C	H59Q	0.950
20:43726518:A:T	H59Q	0.950
20:43726630:A:G	F22S	0.950
20:43726664:A:C	Y11D	0.949
20:43726618:A:G	L26P	0.948

dbSNP variants (sampled 300 via entrez): RS1000295175 (20:43727160 TTTTTTG>T,TTTTTTGTTTTTG), RS1000779207 (20:43726879 T>A), RS1001652071 (20:43727378 G>A), RS1002019368 (20:43727585 A>G), RS1005086506 (20:43728190 T>C), RS1005629066 (20:43727763 C>T), RS1007263098 (20:43728618 T>C,G), RS1007800288 (20:43726853 CTG>C), RS1009222553 (20:43727961 A>G), RS1013375212 (20:43726172 G>A), RS1014154957 (20:43727231 G>A,T), RS1014385398 (20:43727359 G>A), RS1016899118 (20:43725927 CAT>C), RS1018310587 (20:43726868 T>C), RS1018902476 (20:43727967 A>C)

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

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	increases expression	1
terbufos	increases methylation	1
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
clothianidin	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Fonofos	increases methylation	1
Parathion	increases methylation	1

Clinical trials (associated diseases)

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