TAFA1 (TAFA chemokine like family member 1)

Gene

• Entrez ID: 407738
• Gene name: TAFA chemokine like family member 1
• Gene symbol: TAFA1
• Synonyms (NCBI Gene): FAM19A1, TAFA-1
• Chromosome: 3
• Chromosome location: 3p14.1
• Summary: This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	29453251
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0007165	Process	Signal transduction	IEA
GO:0010469	Process	Regulation of signaling receptor activity	ISS
GO:0014016	Process	Neuroblast differentiation	IBA
GO:0014016	Process	Neuroblast differentiation	IEA
GO:0014016	Process	Neuroblast differentiation	ISS
GO:0048018	Function	Receptor ligand activity	IBA
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048018	Function	Receptor ligand activity	ISS
GO:1902692	Process	Regulation of neuroblast proliferation	IBA
GO:1902692	Process	Regulation of neuroblast proliferation	IEA
GO:1902692	Process	Regulation of neuroblast proliferation	ISS

Other IDs

• MIM: 617495
• HGNC: 21587
• e!Ensembl: ENSG00000183662

Protein

• UniProt ID: Q7Z5A9
• Protein name: Chemokine-like protein TAFA-1
• Protein function: Regulatory factor which is ligand for CMKLR2 and is involved in the modulation of neural stem-cell proliferation and differentiation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12020	TAFA	41 → 129	TAFA family	Family

• Tissue specificity: TISSUE SPECIFICITY: Brain-specific. {ECO:0000269|PubMed:15028294}.
• Sequence:

  MAMVSAMSWVLYLWISACAMLLCHGSLQHTFQQHHLHRPEGGTCEVIAAHRCCNKNRIEE
  RSQTVKCSCLPGKVAGTTRNRPSCVDASIVIGKWWCEMEPCLEGEECKTLPDNSGWMCAT
  GNKIKTTRIHPRT

• Sequence length: 133

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	Evidence Score
CONGENITAL HEART MALFORMATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cataract	Cataract	Pubtator	20664687	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20664687	Associate	★☆☆☆☆ Found in Text Mining only