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FHIP1A FHF complex subunit HOOK interacting protein 1A [ Homo sapiens (human) ]

Gene ID: 729830, updated on 2-Nov-2024

Summary

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Official Symbol
FHIP1Aprovided by HGNC
Official Full Name
FHF complex subunit HOOK interacting protein 1Aprovided by HGNC
Primary source
HGNC:HGNC:34237
See related
Ensembl:ENSG00000164142 AllianceGenome:HGNC:34237
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FHIP-L; FAM160A1
Summary
Involved in protein localization to perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in skin (RPKM 6.6), thyroid (RPKM 3.3) and 17 other tissues See more
Orthologs
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Genomic context

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See FHIP1A in Genome Data Viewer
Location:
4q31.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (151409176..151670503)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (154733031..154993605)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (152330328..152591655)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene SH3 domain containing 19 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:152236121-152237320 Neighboring gene RNA, U6 small nuclear 1282, pseudogene Neighboring gene Sharpr-MPRA regulatory region 2958 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:152312507-152313010 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr4:152328899-152329598 and GRCh37_chr4:152329599-152330298 Neighboring gene FHIP1A divergent transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:152405062-152405718 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:152405719-152406374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:152406474-152407173 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:152407174-152407872 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:152409975-152410608 Neighboring gene NANOG hESC enhancer GRCh37_chr4:152445639-152446203 Neighboring gene RN7SK pseudogene 35 Neighboring gene NANOG hESC enhancer GRCh37_chr4:152567291-152567852 Neighboring gene uncharacterized LOC107986197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:152593699-152594498 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:152608614-152609114 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:152609115-152609615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22022 Neighboring gene glutamyl-tRNA amidotransferase subunit B Neighboring gene uncharacterized LOC105377488 Neighboring gene uncharacterized LOC127898557 Neighboring gene NANOG hESC enhancer GRCh37_chr4:152732461-152732962

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma. Chan JY, et al. Blood Cancer J, 2018 Nov 12. PMID 30420729, Free PMC Article
  2. Identification of nine genes as novel susceptibility loci for early-onset ischemic stroke, intracerebral hemorrhage, or subarachnoid hemorrhage. Yamada Y, et al. Biomed Rep, 2018 Jul. PMID 29930801, Free PMC Article
  3. The FTS-Hook-FHIP (FHF) complex interacts with AP-4 to mediate perinuclear distribution of AP-4 and its cargo ATG9A. Mattera R, et al. Mol Biol Cell, 2020 Apr 15. PMID 32073997, Free PMC Article
  4. Cytoplasmic dynein-1 cargo diversity is mediated by the combinatorial assembly of FTS-Hook-FHIP complexes. Christensen JR, et al. Elife, 2021 Dec 9. PMID 34882091, Free PMC Article
  5. The MYO6 interactome reveals adaptor complexes coordinating early endosome and cytoskeletal dynamics. O'Loughlin T, et al. EMBO Rep, 2018 Apr. PMID 29467281, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. this report implicates a novel recessive germline mutation in FAM160A1 with familial NKTL.
    Title: Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ43373

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein localization to perinuclear region of cytoplasm IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
FHF complex subunit HOOK-interacting protein 1A
Names
FTS and Hook-interacting protein like
family with sequence similarity 160 member A1
protein FAM160A1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001109977.3 → NP_001103447.1  FHF complex subunit HOOK-interacting protein 1A

    See identical proteins and their annotated locations for NP_001103447.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC079795, AC092611, AC097455
    Consensus CDS
    CCDS47146.1
    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2
    Related
    ENSP00000413196.1, ENST00000435205.6
    Conserved Domains (1) summary
    pfam10257
    Location:88 → 411
    RAI16-like; Retinoic acid induced 16-like protein

  2. NM_001348694.2 → NP_001335623.1  FHF complex subunit HOOK-interacting protein 1A

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC079795, AC092611, AC097455
    Consensus CDS
    CCDS47146.1
    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2
    Conserved Domains (1) summary
    pfam10257
    Location:88 → 411
    RAI16-like; Retinoic acid induced 16-like protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    151409176..151670503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454201.2 → XP_024309969.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2
    Conserved Domains (1) summary
    pfam10257
    Location:88 → 411
    RAI16-like; Retinoic acid induced 16-like protein

  2. XM_047416127.1 → XP_047272083.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2

  3. XM_011532221.3 → XP_011530523.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    See identical proteins and their annotated locations for XP_011530523.1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2
    Conserved Domains (1) summary
    pfam10257
    Location:88 → 411
    RAI16-like; Retinoic acid induced 16-like protein

  4. XM_005263199.2 → XP_005263256.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    See identical proteins and their annotated locations for XP_005263256.1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2
    Conserved Domains (1) summary
    pfam10257
    Location:88 → 411
    RAI16-like; Retinoic acid induced 16-like protein

  5. XM_011532223.3 → XP_011530525.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    See identical proteins and their annotated locations for XP_011530525.1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2
    Conserved Domains (1) summary
    pfam10257
    Location:88 → 411
    RAI16-like; Retinoic acid induced 16-like protein

  6. XM_011532220.3 → XP_011530522.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    See identical proteins and their annotated locations for XP_011530522.1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2
    Related
    ENSP00000421580.1, ENST00000505231.1
    Conserved Domains (1) summary
    pfam10257
    Location:88 → 411
    RAI16-like; Retinoic acid induced 16-like protein

  7. XM_011532224.3 → XP_011530526.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    See identical proteins and their annotated locations for XP_011530526.1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2
    Conserved Domains (1) summary
    pfam10257
    Location:88 → 411
    RAI16-like; Retinoic acid induced 16-like protein

  8. XM_017008583.1 → XP_016864072.1  FHF complex subunit HOOK-interacting protein 1A isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    154733031..154993605
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350780.1 → XP_054206755.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2

  2. XM_054350784.1 → XP_054206759.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2

  3. XM_054350781.1 → XP_054206756.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2

  4. XM_054350782.1 → XP_054206757.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2

  5. XM_054350783.1 → XP_054206758.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2

  6. XM_054350785.1 → XP_054206760.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2

  7. XM_054350786.1 → XP_054206761.1  FHF complex subunit HOOK-interacting protein 1A isoform X1

    UniProtKB/Swiss-Prot
    Q05DH4, Q6ZUS2

  8. XM_054350787.1 → XP_054206762.1  FHF complex subunit HOOK-interacting protein 1A isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q05DH4.2 GenPept UniProtKB/Swiss-Prot:Q05DH4

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