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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	134265
Gene name	Actin filament associated protein 1 like 1
Gene symbol	AFAP1L1
Synonyms (NCBI Gene)	-
Chromosome	5
Chromosome location	5q32

Show/Hide all (63)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022265	hsa-miR-124-3p	Microarray	18668037
MIRT026274	hsa-miR-192-5p	Microarray	19074876
MIRT770884	hsa-miR-1252	CLIP-seq
MIRT770885	hsa-miR-1343	CLIP-seq
MIRT770886	hsa-miR-139-5p	CLIP-seq
MIRT770887	hsa-miR-140-5p	CLIP-seq
MIRT770888	hsa-miR-1911	CLIP-seq
MIRT770889	hsa-miR-27a	CLIP-seq
MIRT770890	hsa-miR-27b	CLIP-seq
MIRT770891	hsa-miR-3199	CLIP-seq
MIRT770892	hsa-miR-3202	CLIP-seq
MIRT770893	hsa-miR-371-5p	CLIP-seq
MIRT770894	hsa-miR-371b-5p	CLIP-seq
MIRT770895	hsa-miR-378g	CLIP-seq
MIRT770896	hsa-miR-4437	CLIP-seq
MIRT770897	hsa-miR-4438	CLIP-seq
MIRT770898	hsa-miR-4533	CLIP-seq
MIRT770899	hsa-miR-4674	CLIP-seq
MIRT770900	hsa-miR-5095	CLIP-seq
MIRT770901	hsa-miR-513a-5p	CLIP-seq
MIRT770902	hsa-miR-633	CLIP-seq
MIRT1545176	hsa-miR-3130-3p	CLIP-seq
MIRT1545177	hsa-miR-3977	CLIP-seq
MIRT1545178	hsa-miR-767-5p	CLIP-seq
MIRT1927399	hsa-miR-122	CLIP-seq
MIRT770884	hsa-miR-1252	CLIP-seq
MIRT770885	hsa-miR-1343	CLIP-seq
MIRT770887	hsa-miR-140-5p	CLIP-seq
MIRT1545176	hsa-miR-3130-3p	CLIP-seq
MIRT1927400	hsa-miR-3135b	CLIP-seq
MIRT770892	hsa-miR-3202	CLIP-seq
MIRT1927401	hsa-miR-3652	CLIP-seq
MIRT1927402	hsa-miR-3688-5p	CLIP-seq
MIRT770895	hsa-miR-378g	CLIP-seq
MIRT1927403	hsa-miR-3929	CLIP-seq
MIRT1545177	hsa-miR-3977	CLIP-seq
MIRT1927404	hsa-miR-4419b	CLIP-seq
MIRT1927405	hsa-miR-4430	CLIP-seq
MIRT770896	hsa-miR-4437	CLIP-seq
MIRT1927406	hsa-miR-4478	CLIP-seq
MIRT770898	hsa-miR-4533	CLIP-seq
MIRT770899	hsa-miR-4674	CLIP-seq
MIRT1927407	hsa-miR-4755-5p	CLIP-seq
MIRT1545178	hsa-miR-767-5p	CLIP-seq
MIRT1927399	hsa-miR-122	CLIP-seq
MIRT2168165	hsa-miR-1245b-3p	CLIP-seq
MIRT770884	hsa-miR-1252	CLIP-seq
MIRT2168166	hsa-miR-1271	CLIP-seq
MIRT770887	hsa-miR-140-5p	CLIP-seq
MIRT1927400	hsa-miR-3135b	CLIP-seq
MIRT770892	hsa-miR-3202	CLIP-seq
MIRT1927401	hsa-miR-3652	CLIP-seq
MIRT1927402	hsa-miR-3688-5p	CLIP-seq
MIRT2168167	hsa-miR-383	CLIP-seq
MIRT1927403	hsa-miR-3929	CLIP-seq
MIRT1927404	hsa-miR-4419b	CLIP-seq
MIRT1927405	hsa-miR-4430	CLIP-seq
MIRT1927406	hsa-miR-4478	CLIP-seq
MIRT770898	hsa-miR-4533	CLIP-seq
MIRT2168168	hsa-miR-4715-5p	CLIP-seq
MIRT2168169	hsa-miR-4772-5p	CLIP-seq
MIRT2168170	hsa-miR-595	CLIP-seq
MIRT2168171	hsa-miR-96	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IEA
GO:0002102	Component	Podosome	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0042995	Component	Cell projection	IEA
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
614410	26714	ENSG00000157510

Q8TED9

Protein name

Actin filament-associated protein 1-like 1 (AFAP1-like protein 1)

Protein function

May be involved in podosome and invadosome formation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00169	PH	222 → 316	PH domain	Domain
PF00169	PH	414 → 507	PH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in breast, colon and brain. In all 3 tissues, expressed in the microvasculature (at protein level). In addition, in the breast, found in the contractile myoepithelial cell layer which surrounds the breast ducts (at protein le

Sequence

MDRGQVLEQLLPELTGLLSLLDHEYLSDTTLEKKMAVASILQSLQPLPAKEVSYLYVNTA
DLHSGPSFVESLFEEFDCDLSDLRDMPEDDGEPSKGASPELAKSPRLRNAADLPPPLPNK
PPPEDYYEEALPLGPGKSPEYISSHNGCSPSHSIVDGYYEDADSSYPATRVNGELKSSYN
DSDAMSSSYESYDEEEEEGKSPQPRHQWPSEEASMHLVRECRICAFLLRKKRFGQWAKQL
TVIREDQLLCYKSSKDRQPHLRLALDTCSIIYVPKDSRHKRHELRFTQGATEVLVLALQS
REQAEEWLKVIREVSKPVGGAEGVEVPRSPVLLCKLDLDKRLSQEKQTSDSDSVGVGDNC
STLGRRETCDHGKGKKSSLAELKGSMSRAAGRKITRIIGFSKKKTLADDLQTSSTEEEVP
CCGYLNVLVNQGWKERWCRLKCNTLYFHKDHMDLRTHVNAIALQGCEVAPGFGPRHPFAF
RILRNRQEVAILEASCSEDMGRWLGLLLVEMGSRVTPEALHYDYVDVETLTSIVSAGRNS
FLYARSCQNQWPEPRVYDDVPYEKMQDEEPERPTGAQVKRHASSCSEKSHRVDPQVKVKR
HASSANQYKYGKNRAEEDARRYLVEKEKLEKEKETIRTELIALRQEKRELKEAIRSSPGA
KLKALEEAVATLEAQCRAKEERRIDLELKLVAVKERLQQSLAGGPALGLSVSSKPKSGET
ANKPQNSVPEQPLPVNCVSELRKRSPSIVASNQGRVLQKAKEWEMKKT

Sequence length

768

Interactions

View interactions

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 (6)

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.
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma of lung	Lung carcinoma	BEFREE	29323101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24723436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29323101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29323101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24723436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21516130, 24723436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29323101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	24723436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	21516130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	23326307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	BEFREE	21516130, 24723436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36631800	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

AFAP1L1 (actin filament associated protein 1 like 1)