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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FHIP1A
FHF complex subunit HOOK interacting protein 1A
Chromosome 4 Β· 4q31.3
NCBI Gene: 729830Ensembl: ENSG00000164142.17HGNC: HGNC:34237UniProt: Q05DH4
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein localization to perinuclear region of cytoplasmprotein transport along microtubulegastroesophageal reflux diseaseAbruptio Placentaemathematical abilityintelligence
✦AI Summary

Based on limited published evidence, FHIP1A is a probable component of the FTS/Hook/FHIP (FHF) complex that promotes AP-4 complex distribution to the perinuclear region 1. The protein participates in protein binding and transport along microtubules to facilitate perinuclear protein localization. A genomic region near FHIP1A shows association with LDL cholesterol levels in African populations 2. Additionally, the divergent transcript FHIP1A-DT functions as a long non-coding RNA with potential diagnostic and prognostic significance in colorectal cancer 3.

Sources cited
1
FHIP1A is a component of the FHF complex that promotes AP-4 distribution to perinuclear region
PMID: 32073997
2
FHIP1A genomic region associates with LDL cholesterol levels in sub-Saharan African populations
PMID: 35546142
3
FHIP1A-DT lncRNA has diagnostic and prognostic potential in colorectal cancer
PMID: 37703762
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
gastroesophageal reflux diseaseOpen Targets
0.24Weak
Abruptio PlacentaeOpen Targets
0.20Weak
mathematical abilityOpen Targets
0.20Weak
intelligenceOpen Targets
0.13Weak
Alzheimer diseaseOpen Targets
0.13Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
insomniaOpen Targets
0.10Weak
TinnitusOpen Targets
0.09Suggestive
Blackfan-Diamond anemiaOpen Targets
0.09Suggestive
dyslexiaOpen Targets
0.08Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.07Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.07Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.06Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.06Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.06Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.06Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.06Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
FHIP2AShared pathway50%FHIP1BShared pathway33%HOOK1Shared pathway25%HOOK2Shared pathway22%AKTIPShared pathway20%HOOK3Shared pathway18%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
33%
Ovary
24%
Lung
22%
Brain
22%
Liver
13%
Gene Interaction Network
Click a node to explore
FHIP1AFHIP2AFHIP1BHOOK1HOOK2AKTIPHOOK3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q05DH4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.88LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.56–0.88]
RankingsWhere FHIP1A stands among ~20K protein-coding genes
  • #13,907of 20,598
    Most Researched21
  • #7,777of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedFHIP1A
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits.
PMID: 35546142
Nat Commun Β· 2022
1.00
2
FHIP1A-DT is a potential novel diagnostic, prognostic, and therapeutic biomarker of colorectal cancer: A pan-cancer analysis.
PMID: 37703762
Biochem Biophys Res Commun Β· 2023
0.50