Gene Gene information from NCBI Gene database.
Entrez ID 114827
Gene name Forkhead associated phosphopeptide binding domain 1
Gene symbol FHAD1
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p36.21
miRNA miRNA information provided by mirtarbase database.
140
miRTarBase ID miRNA Experiments Reference
MIRT996334 hsa-miR-1297 CLIP-seq
MIRT996335 hsa-miR-26a CLIP-seq
MIRT996336 hsa-miR-26b CLIP-seq
MIRT996337 hsa-miR-3646 CLIP-seq
MIRT996338 hsa-miR-3663-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005929 Component Cilium IEA
GO:0031514 Component Motile cilium IEA
GO:0036126 Component Sperm flagellum IDA 31429579
GO:0042995 Component Cell projection IEA
GO:0097722 Process Sperm motility IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620889 29408 ENSG00000142621
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
B1AJZ9
Protein name Forkhead-associated domain-containing protein 1 (FHA domain-containing protein 1)
Protein function Regulator of sperm motility and spermatocyte meiosis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00498 FHA 18 85 FHA domain Family
Tissue specificity TISSUE SPECIFICITY: Testis (at protein level). {ECO:0000269|PubMed:31429579}.
Sequence
MKAYLKSAEGFFVLNKSTTIGRHENSDLVLQSPDIDNHHALIEYNEAECSFVLQDFNSRN
GTFVNECHIQNVAVKLIPGDILRFG
SAGLTYELVIENPPPVSFPWMRGPAPWPGPQPPRA
TQQPNQAPPPSHIPFHQGVQPAPMQRSWSQAFPRPTVVLPASHRRPVSANKEMFSFVVDD
ARKPPVIKQVWTNAMKLSEKSVAEGIPGAVPPAEIYVEEDLAQQDKDEIILLLGKEVSRL
SDYEIESKYKDVIIANLQNEVAELSQKVSETTTSRQNEKEISQKCQVLDEDIDAKQKEIQ
SLKSQISALQKGYSKVLCQTLSERNSEITSLKNEGENLKRDNAITSGMVSSLQKDILAKD
EQVQQLKEEVSHLKSQNKDKDHQLEALGSRCSVLKEELKQEDAHRELREAQEKELKLCKT
QIQDMEKEMKKLRAELRKSCTEQSVISRTLREKSKVEEKLQEDSRRKLLQLQEMGNRESV
IKINLERAVGQLEHFRSQVIKATYGRAKPFRDKPVTDQQLIEKITQVTEDNINFQQKKWT
LQKETQLSNSKQEETTENIEKLRTSLDSCQACMKISCCSHDLKKEVDLLQHLQVSPPVSG
LQKVVLDVLRHALSWLEEVEQLLRDLGILPSSPNKDQVQQFSGNSAVFTAGKAAGASGRE
GEAERGEARARGEAQSQNQATDGREGGKALEEYITQERNRAKETLEEERKRMQELESLLA
QQKKALAKSITQEKNRVKEALEEEQTRVQELEERLARQKEVLESSIAHEKRKAKEALESE
KRKVQDLENHLTQQKEISESNIAYEKRKAKEAMEKEKKKVQDLENRLTKQKEELELKEQK
EDVLNNKLSDALAMVEETQKTKATESLKAESLALKLNETLAELETTKTKMIMVEERLILQ
QKMVKALQDEQESQRHGFEEEIMEYKEQIKQHAQTIVSLEEKLQKVTQHHKKIEGEIATL
KDNDPAPKEERPQDPLVAPMTESSAKDMAYEHLIDDLLAAQKEILSQQEVIMKLRKDLTE
AHSRMSDLRGELNEKQKMELEQNVVLVQQQSKELSVLKEKMAQMSSLVEKKDRELKALEE
ALRASQEKHRLQLNTEKEQKPRKKTQTCDTSVQIEPVHTEAFSSSQEQQSFSDLGVRCKG
SRHEEVIQRQKKALSELRARIKELEKARSPDHKDHQNESFLDLKNLRMENNVQKILLDAK
PDLPTLSRIEILAPQNGLCNARFGSAMEKSGKMDVAEALELSEKLYLDMSKTLGSLMNIK
NMSGHVSMKYLSRQEREKVNQLRQRDLDLVFDKITQLKNQLGRKEELLRGYEKDVEQLRR
SKVSIEMYQSQVAKLEDDIYKEAEEKALLKEALERMEHQLCQEKRINRAIRQQKVGTRKA
SLKMDQEREMLRKETSSKSSQSLLHSKPSGKY
Sequence length 1412
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE 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
Congestive heart failure Congestive Heart Failure BEFREE 31127295
★☆☆☆☆
Found in Text Mining only
Coronary Aneurysm Coronary Aneurysm GWASCAT_DG 27171184
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Heart failure Heart Failure BEFREE 31127295
★☆☆☆☆
Found in Text Mining only
Heart Failure Heart failure Pubtator 31127295 Associate
★☆☆☆☆
Found in Text Mining only
Mucocutaneous Lymph Node Syndrome Kawasaki disease GWASCAT_DG 27171184
★☆☆☆☆
Found in Text Mining only
Pelvic Organ Prolapse Pelvic Organ Prolapse GWASCAT_DG 26545240
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms Prostatic neoplasm Pubtator 27358489 Associate
★☆☆☆☆
Found in Text Mining only