Gene Gene information from NCBI Gene database.
Entrez ID 221061
Gene name Family with sequence similarity 171 member A1
Gene symbol FAM171A1
Synonyms (NCBI Gene)
APCNC10orf38
Chromosome 10
Chromosome location 10p13
miRNA miRNA information provided by mirtarbase database.
57
miRTarBase ID miRNA Experiments Reference
MIRT022483 hsa-miR-124-3p Microarray 18668037
MIRT027016 hsa-miR-103a-3p Sequencing 20371350
MIRT027931 hsa-miR-96-5p Sequencing 20371350
MIRT037282 hsa-miR-877-5p CLASH 23622248
MIRT981948 hsa-miR-139-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 30312582, 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 30312582
GO:0005886 Component Plasma membrane IEA
GO:0008360 Process Regulation of cell shape IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VUB5
Protein name Protein FAM171A1 (Astroprincin) (APCN)
Protein function Involved in the regulation of the cytoskeletal dynamics, plays a role in actin stress fiber formation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10577 UPF0560 34 888 Uncharacterised protein family UPF0560 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, brain, liver, skeletal muscle, kidney and pancreas (PubMed:30312582). In brain, expressed by glia, pyramidal neurons and astrocytes (at protein level) (PubMed:30312582). Highly expressed in placental trophoblasts (P
Sequence
MSRSATLLLCLLGCHVWKAVTKTLREPGAGAQEVTLKVHISDASTHQPVADALIEIFTNQ
ASIASGTSGTDGVAFIKFQYKLGSQLIVTASKHAYVPNSAPWKPIRLPVFSSLSLGLLPE
RSATLMVYEDVVQIVSGFQGARPQPRVHFQRRALRLPENTSYSDLTAFLTAASSPSEVDS
FPYLRGLDGNGTGNSTRHDLTPVTAVSVHLLSSNGTPVLVDGPIYVTVPLATQSSLRHNA
YVAAWRFDQKLGTWLKSGLGLVHQEGSQLTWTYIAPQLGYWVAAMSPPIPGPVVTQDITT
YHTVFLLAILGGMAFILLVLLCLLLYYCRRKCLKPRQHHRKLQLPAGLESSKRDQSTSMS
HINLLFSRRASEFPGPLSVTSHGRPEAPGTKELMSGVHLEMMSPGGEGDLHTPMLKLSYS
TSQEFSSREELLSCKEEDKSQISFDNLTPSGTLGKDYHKSVEVFPLKARKSMEREGYESS
GNDDYRGSYNTVLSQPLFEKQDREGPASTGSKLTIQEHLYPAPSSPEKEQLLDRRPTECM
MSRSVDHLERPTSFPRPGQLICCSSVDQVNDSVYRKVLPALVIPAHYMKLPGDHSYVSQP
LVVPADQQLEIERLQAELSNPHAGIFPHPSSQIQPQPLSSQAISQQHLQDAGTREWSPQN
ASMSESLSIPASLNDAALAQMNSEVQLLTEKALMELGGGKPLPHPRAWFVSLDGRSNAHV
RHSYIDLQRAGRNGSNDASLDSGVDMNEPKSARKGRGDALSLQQNYPPVQEHQQKEPRAP
DSTAYTQLVYLDDVEQSGSECGTTVCTPEDSALRCLLEGSSRRSGGQLPSLQEETTRRTA
DAPSEPAASPHQRRSAHEEEEDDDDDDQGEDKKSPWQKREERPLMAFN
IK
Sequence length 890
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART MALFORMATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Activated Protein C Resistance Activated Protein C Resistance BEFREE 18703228
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30631046
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34481452 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 30631046
★☆☆☆☆
Found in Text Mining only
Narcolepsy Narcolepsy GWASDB_DG 19629137
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 30631046
★☆☆☆☆
Found in Text Mining only
Sarcopenia Sarcopenia Pubtator 36050999, 36147639 Associate
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Triple Negative Breast Neoplasms BEFREE 30631046, 31649243
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Triple negative breast cancer Pubtator 31649243 Associate
★☆☆☆☆
Found in Text Mining only