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

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 138474
• Gene name: TATA-box binding protein associated factor 1 like
• Gene symbol: TAF1L
• Synonyms (NCBI Gene): TAF(II)210, TAF2A2
• 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

miRNA Show/Hide all (86)

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO) Show/Hide all (22)

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

Other IDs

• MIM: 607798
• HGNC: 18056
• e!Ensembl: ENSG00000122728

Protein

• UniProt ID: 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
  PF00439	Bromodomain	1530 → 1614	Bromodomain	Domain
  PF00439	Bromodomain	1408 → 1491	Bromodomain	Domain
  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

• 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

Pathways

KEGG Pathway	Reactome Pathway
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

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
GASTROINTESTINAL DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	29610475	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (13)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27571988	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27571988		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27571988	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34015961	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27571988		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27571988		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29351916		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24007313	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

TAF7L 7 shared pathwaysBasal 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 Related via 7 shared pathways including Basal transcription factors, RNA Polymerase II Pre-transcription Events. TAF1 7 shared pathwaysBasal 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 Related via 7 shared pathways including Basal transcription factors, RNA Polymerase II Pre-transcription Events. TAF2 7 shared pathwaysBasal 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 Related via 7 shared pathways including Basal transcription factors, RNA Polymerase II Pre-transcription Events. TAF4 7 shared pathwaysBasal 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 Related via 7 shared pathways including Basal transcription factors, RNA Polymerase II Pre-transcription Events. TAF4B 7 shared pathwaysBasal 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 Related via 7 shared pathways including Basal transcription factors, RNA Polymerase II Pre-transcription Events.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TAF7L	0	[]	7	["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"]	0	[]
TAF1	0	[]	7	["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"]	0	[]
TAF2	0	[]	7	["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"]	0	[]
TAF4	0	[]	7	["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"]	0	[]
TAF4B	0	[]	7	["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"]	0	[]

Diseases Linked via Similar Genes

Intellectual developmental disorder Linked via 3 of 5 related genesTAF1, TAF2, TAF4 Neurodevelopmental disorder Linked via 2 of 5 related genesTAF2, TAF4 Autism Linked via 1 of 5 related genesTAF1 Congenital heart disease Linked via 1 of 5 related genesTAF1 Dystonia Linked via 1 of 5 related genesTAF1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Intellectual developmental disorder	3	["TAF1","TAF2","TAF4"]
Neurodevelopmental disorder	2	["TAF2","TAF4"]
Autism	1	["TAF1"]
Congenital heart disease	1	["TAF1"]
Dystonia	1	["TAF1"]