Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	138474
Gene name	TATA-box binding protein associated factor 1 like
Gene symbol	TAF1L
Synonyms (NCBI Gene)	TAF(II)210TAF2A2
Chromosome	9
Chromosome location	9p21.1
Summary	This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ cells, and the product has been shown to function interc

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miRTarBase ID	miRNA	Experiments
MIRT1409274	hsa-miR-1228	CLIP-seq
MIRT1409275	hsa-miR-3135b	CLIP-seq
MIRT1409276	hsa-miR-3652	CLIP-seq
MIRT1409277	hsa-miR-4430	CLIP-seq
MIRT1409278	hsa-miR-4438	CLIP-seq
MIRT1409279	hsa-miR-4450	CLIP-seq
MIRT1409280	hsa-miR-4667-5p	CLIP-seq
MIRT1409281	hsa-miR-4700-5p	CLIP-seq
MIRT1409282	hsa-miR-5095	CLIP-seq
MIRT1409283	hsa-miR-637	CLIP-seq
MIRT1409284	hsa-miR-767-5p	CLIP-seq
MIRT1921390	hsa-miR-1280	CLIP-seq
MIRT1921391	hsa-miR-1302	CLIP-seq
MIRT1921392	hsa-miR-4286	CLIP-seq
MIRT1921393	hsa-miR-4287	CLIP-seq
MIRT1921394	hsa-miR-4298	CLIP-seq
MIRT1921395	hsa-miR-4469	CLIP-seq
MIRT1921396	hsa-miR-4685-3p	CLIP-seq
MIRT2122742	hsa-miR-3680	CLIP-seq
MIRT2122743	hsa-miR-4695-3p	CLIP-seq
MIRT2122744	hsa-miR-4772-3p	CLIP-seq
MIRT2122745	hsa-miR-498	CLIP-seq
MIRT1409275	hsa-miR-3135b	CLIP-seq
MIRT2345113	hsa-miR-3155	CLIP-seq
MIRT2345114	hsa-miR-3155b	CLIP-seq
MIRT1409276	hsa-miR-3652	CLIP-seq
MIRT2122742	hsa-miR-3680	CLIP-seq
MIRT2345115	hsa-miR-4268	CLIP-seq
MIRT1409277	hsa-miR-4430	CLIP-seq
MIRT2345116	hsa-miR-4464	CLIP-seq
MIRT2345117	hsa-miR-4506	CLIP-seq
MIRT2345118	hsa-miR-450b-3p	CLIP-seq
MIRT2345119	hsa-miR-4691-5p	CLIP-seq
MIRT2122743	hsa-miR-4695-3p	CLIP-seq
MIRT2345120	hsa-miR-4713-3p	CLIP-seq
MIRT2345121	hsa-miR-4748	CLIP-seq
MIRT2345122	hsa-miR-4772-5p	CLIP-seq
MIRT2345123	hsa-miR-484	CLIP-seq
MIRT2345124	hsa-miR-638	CLIP-seq
MIRT2345125	hsa-miR-769-3p	CLIP-seq
MIRT1409274	hsa-miR-1228	CLIP-seq
MIRT2461067	hsa-miR-1976	CLIP-seq
MIRT2461068	hsa-miR-3157-5p	CLIP-seq
MIRT2461069	hsa-miR-370	CLIP-seq
MIRT2461070	hsa-miR-3977	CLIP-seq
MIRT2461071	hsa-miR-4279	CLIP-seq
MIRT1409278	hsa-miR-4438	CLIP-seq
MIRT1409279	hsa-miR-4450	CLIP-seq
MIRT2461072	hsa-miR-4532	CLIP-seq
MIRT2461073	hsa-miR-4794	CLIP-seq
MIRT2122745	hsa-miR-498	CLIP-seq
MIRT1409282	hsa-miR-5095	CLIP-seq
MIRT1409284	hsa-miR-767-5p	CLIP-seq
MIRT1409274	hsa-miR-1228	CLIP-seq
MIRT2461067	hsa-miR-1976	CLIP-seq
MIRT2638175	hsa-miR-3149	CLIP-seq
MIRT2461069	hsa-miR-370	CLIP-seq
MIRT2461070	hsa-miR-3977	CLIP-seq
MIRT2638176	hsa-miR-411	CLIP-seq
MIRT2461071	hsa-miR-4279	CLIP-seq
MIRT1409278	hsa-miR-4438	CLIP-seq
MIRT1409279	hsa-miR-4450	CLIP-seq
MIRT2461072	hsa-miR-4532	CLIP-seq
MIRT2638177	hsa-miR-4735-5p	CLIP-seq
MIRT2638178	hsa-miR-4775	CLIP-seq
MIRT2461073	hsa-miR-4794	CLIP-seq
MIRT2122745	hsa-miR-498	CLIP-seq
MIRT1409282	hsa-miR-5095	CLIP-seq
MIRT2638179	hsa-miR-590-3p	CLIP-seq
MIRT1409284	hsa-miR-767-5p	CLIP-seq
MIRT1409274	hsa-miR-1228	CLIP-seq
MIRT2461067	hsa-miR-1976	CLIP-seq
MIRT2638175	hsa-miR-3149	CLIP-seq
MIRT2461069	hsa-miR-370	CLIP-seq
MIRT2461070	hsa-miR-3977	CLIP-seq
MIRT2461071	hsa-miR-4279	CLIP-seq
MIRT1409278	hsa-miR-4438	CLIP-seq
MIRT1409279	hsa-miR-4450	CLIP-seq
MIRT2461072	hsa-miR-4532	CLIP-seq
MIRT2638177	hsa-miR-4735-5p	CLIP-seq
MIRT2638178	hsa-miR-4775	CLIP-seq
MIRT2461073	hsa-miR-4794	CLIP-seq
MIRT2122745	hsa-miR-498	CLIP-seq
MIRT1409282	hsa-miR-5095	CLIP-seq
MIRT2638179	hsa-miR-590-3p	CLIP-seq
MIRT1409284	hsa-miR-767-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0004402	Function	Histone acetyltransferase activity	IEA
GO:0004402	Function	Histone acetyltransferase activity	ISS	12217962
GO:0004674	Function	Protein serine/threonine kinase activity	ISS	12217962
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005669	Component	Transcription factor TFIID complex	IBA
GO:0005669	Component	Transcription factor TFIID complex	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006352	Process	DNA-templated transcription initiation	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	12217962
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007140	Process	Male meiotic nuclear division	IEP	12217962
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IBA
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IEA
GO:0017025	Function	TBP-class protein binding	IBA
GO:0017025	Function	TBP-class protein binding	IEA
GO:0017025	Function	TBP-class protein binding	IPI	12217962
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	12217962
GO:0051123	Process	RNA polymerase II preinitiation complex assembly	IBA
GO:0140566	Function	Histone reader activity	IDA	22464331

MIM	HGNC	e!Ensembl
607798	18056	ENSG00000122728

Q8IZX4

Protein name

Transcription initiation factor TFIID subunit 1-like (TAF(II)210) (TBP-associated factor 1-like) (TBP-associated factor 210 kDa) (Transcription initiation factor TFIID 210 kDa subunit)

Protein function

May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced.

PDB

3HMH , 5IGL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09247	TBP-binding	22 → 85	TATA box-binding protein binding	Domain
PF12157	DUF3591	584 → 1047	Protein of unknown function (DUF3591)	Family
PF15288	zf-CCHC_6	1280 → 1319	Zinc knuckle	Domain
PF00439	Bromodomain	1408 → 1491	Bromodomain	Domain
PF00439	Bromodomain	1530 → 1614	Bromodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Testis specific, expressed apparently in germ cells.

Sequence

MRPGCDLLLRAAATVTAAIMSDSDSEEDSSGGGPFTLAGILFGNISGAGQLEGESVLDDE
CKKHLAGLGALGLGSLITELTANEELTGTGGALVNDEGWIRSTEDAVDYSDINEVAEDES
QRHQQTMGSLQPLYHSDYDEDDYDADCEDIDCKLMPPPPPPPGPMKKDKDQDAITCVSES
GEDIILPSIIAPSFLASEKVDFSSYSDSESEMGPQEATQAESEDGKLTLPLAGIMQHDAT
KLLPSVTELFPEFRPGKVLRFLHLFGPGKNVPSVWRSARRKRKKHRELIQEEQIQEVECS
VESEVSQKSLWNYDYAPPPPPEQCLADDEITMMVPVESKFSQSTGDVDKVTDTKPRVAEW
RYGPARLWYDMLGVSEDGSGFDYGFKLRKTQHEPVIKSRMMEEFRKLEESNGTDLLADEN
FLMVTQLHWEDSIIWDGEDIKHKGTKPQGASLAGWLPSIKTRNVMAYNVQQGFAPTLDDD
KPWYSIFPIDNEDLVYGRWEDNIIWDAQAMPRLLEPPVLALDPNDENLILEIPDEKEEAT
SNSPSKESKKESSLKKSRILLGKTGVIREEPQQNMSQPEVKDPWNLSNDEYYFPKQQGLR
GTFGGNIIQHSIPAMELWQPFFPTHMGPIKIRQFHRPPLKKYSFGALSQPGPHSVQPLLK
HIKKKAKMREQERQASGGGELFFMRTPQDLTGKDGDLILAEYSEENGPLMMQVGMATKIK
NYYKRKPGKDPGAPDCKYGETVYCHTSPFLGSLHPGQLLQALENNLFRAPVYLHKMPETD
FLIIRTRQGYYIRELVDIFVVGQQCPLFEVPGPNSRRANMHIRDFLQVFIYRLFWKSKDR
PRRIRMEDIKKAFPSHSESSIRKRLKLCADFKRTGMDSNWWVLKSDFRLPTEEEIRAKVS
PEQCCAYYSMIAAKQRLKDAGYGEKSFFAPEEENEEDFQMKIDDEVHAAPWNTTRAFIAA
MKGKCLLEVTGVADPTGCGEGFSYVKIPNKPTQQKDDKEPQAVKKTVTGTDADLRRLSLK
NAKQLLRKFGVPEEEIKKLSRWEVIDVVRTMSTEQAHSGEGPMSKFARGSRFSVAEHQER
YKEECQRIFDLQNKVLSSTEVLSTDTDSISAEDSDFEEMGKNIENMLQNKKTSSQLSREW
EEQERKELRRMLLVAGSAASGNNHRDDVTASMTSLKSSATGHCLKIYRTFRDEEGKEYVR
CETVRKPAVIDAYVRIRTTKDEKFIQKFALFDEKHREEMRKERRRIQEQLRRLKRNQEKE
KLKGPPEKKPKKMKERPDLKLKCGACGAIGHMRTNKFCPLYYQTNVPPSKPVAMTEEQEE
ELEKTVIHNDNEELIKVEGTKIVFGKQLIENVHEVRRKSLVLKFPKQQLPPKKKRRVGTT
VHCDYLNIPHKSIHRRRTDPMVTLSSILESIINDMRDLPNTHPFHTPVNAKVVKDYYKII
TRPMDLQTLRENVRKCLYPSREEFREHLELIVKNSATYNGPKHSLTQISQSMLDLCDEKL
KEKEDKLARLEKAINPLLDDDDQVAFSFILDNIVTQKMMAVPDSWPFHHPVNKKFVPDYY
KMIVNPVDLETIRKNISKHKYQSRESFLDDVNLILANSVKYNGPESQYTKTAQEIVNICY
QTITEYDEHLTQLEKDICTAKEAALEEAELESLDPMTPGPYTSQPPDMYDTNTSLSTSRD
ASVFQDESNLSVLDISTATPEKQMCQGQGRLGEEDSDVDVEGYDDEEEDGKPKPPAPEGG
DGDLADEEEGTVQQPEASVLYEDLLISEGEDDEEDAGSDEEGDNPFSAIQLSESGSDSDV
GYGGIRPKQPFMLQHASGEHKDGHGK

Sequence length

1826

Interactions

View interactions

	KEGG		Reactome
	Basal transcription factors		RNA Polymerase II Pre-transcription Events Regulation of TP53 Activity through Phosphorylation RNA Polymerase II Promoter Escape RNA Polymerase II Transcription Pre-Initiation And Promoter Opening RNA Polymerase II Transcription Initiation RNA Polymerase II Transcription Initiation And Promoter Clearance

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GASTROINTESTINAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Carcinogenesis	Associate	27571988	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	27571988	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	34015961	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microsatellite Instability	Associate	27571988	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	24007313, 27571988	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	24007313	★★★★★ ★☆☆☆☆ Found in Text Mining only

TAF1L (TATA-box binding protein associated factor 1 like)