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

    Gene ID: 729830, updated on 5-Mar-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, Apr 2022]
    Expression
    Broad expression in skin (RPKM 6.6), thyroid (RPKM 3.3) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4q31.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (151409176..151670503)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (154733031..154993605)
    105.20220307 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 LOC105377488-LOC127898556 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
    • 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 (19) 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_2023_10

    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

    Gene LinkOut

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